Incidental Mutation 'R9612:Grip1'
| ID |
724323 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Grip1
|
| Ensembl Gene |
ENSMUSG00000034813 |
| Gene Name |
glutamate receptor interacting protein 1 |
| Synonyms |
4931400F03Rik, eb |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9612 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
119289810-119923172 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 119874569 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 778
(E778K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123234
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041962]
[ENSMUST00000077871]
[ENSMUST00000081260]
[ENSMUST00000105261]
[ENSMUST00000105262]
[ENSMUST00000130387]
[ENSMUST00000138410]
[ENSMUST00000144825]
[ENSMUST00000144959]
[ENSMUST00000147356]
[ENSMUST00000147454]
[ENSMUST00000148954]
[ENSMUST00000154238]
|
| AlphaFold |
Q925T6 |
| PDB Structure |
Solution Structure of the PDZ Domain from Mouse Glutamate Receptor Interacting Protein 1A-L (GRIP1) Homolog [SOLUTION NMR]
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041962
AA Change: E727K
PolyPhen 2
Score 0.120 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000042436
Gene: ENSMUSG00000034813
AA Change: E727K
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
63 |
137 |
4.86e-13 |
SMART |
|
PDZ
|
161 |
239 |
6.4e-22 |
SMART |
|
PDZ
|
262 |
337 |
1.97e-13 |
SMART |
|
low complexity region
|
354 |
367 |
N/A |
INTRINSIC |
|
low complexity region
|
388 |
405 |
N/A |
INTRINSIC |
|
low complexity region
|
413 |
424 |
N/A |
INTRINSIC |
|
PDZ
|
429 |
509 |
6.36e-17 |
SMART |
|
PDZ
|
530 |
606 |
1.11e-16 |
SMART |
|
PDZ
|
629 |
703 |
1.73e-18 |
SMART |
|
PDZ
|
947 |
1019 |
2.79e-13 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000077871
AA Change: E700K
PolyPhen 2
Score 0.423 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000077033
Gene: ENSMUSG00000034813
AA Change: E700K
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
36 |
110 |
4.86e-13 |
SMART |
|
PDZ
|
134 |
212 |
6.4e-22 |
SMART |
|
PDZ
|
235 |
310 |
1.97e-13 |
SMART |
|
low complexity region
|
327 |
340 |
N/A |
INTRINSIC |
|
low complexity region
|
361 |
378 |
N/A |
INTRINSIC |
|
low complexity region
|
386 |
397 |
N/A |
INTRINSIC |
|
PDZ
|
402 |
482 |
6.36e-17 |
SMART |
|
PDZ
|
503 |
579 |
1.11e-16 |
SMART |
|
PDZ
|
602 |
676 |
1.73e-18 |
SMART |
|
PDZ
|
920 |
992 |
2.79e-13 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000081260
|
| SMART Domains |
Protein: ENSMUSP00000080016
Gene: ENSMUSG00000034813
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
49 |
60 |
N/A |
INTRINSIC |
|
PDZ
|
65 |
145 |
3e-19 |
SMART |
|
PDZ
|
166 |
242 |
5.2e-19 |
SMART |
|
PDZ
|
265 |
339 |
8.4e-21 |
SMART |
|
PDZ
|
518 |
590 |
1.4e-15 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105261
|
| SMART Domains |
Protein: ENSMUSP00000100896
Gene: ENSMUSG00000034813
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
49 |
60 |
N/A |
INTRINSIC |
|
PDZ
|
65 |
145 |
6.36e-17 |
SMART |
|
PDZ
|
166 |
242 |
1.11e-16 |
SMART |
|
PDZ
|
265 |
339 |
1.73e-18 |
SMART |
|
PDZ
|
518 |
590 |
2.79e-13 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000105262
AA Change: E726K
PolyPhen 2
Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000100897
Gene: ENSMUSG00000034813
AA Change: E726K
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
62 |
136 |
4.86e-13 |
SMART |
|
PDZ
|
160 |
238 |
6.4e-22 |
SMART |
|
PDZ
|
261 |
336 |
1.97e-13 |
SMART |
|
low complexity region
|
353 |
366 |
N/A |
INTRINSIC |
|
low complexity region
|
387 |
404 |
N/A |
INTRINSIC |
|
low complexity region
|
412 |
423 |
N/A |
INTRINSIC |
|
PDZ
|
428 |
508 |
6.36e-17 |
SMART |
|
PDZ
|
529 |
605 |
1.11e-16 |
SMART |
|
PDZ
|
628 |
702 |
1.73e-18 |
SMART |
|
PDZ
|
946 |
1018 |
2.79e-13 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000130387
AA Change: E363K
PolyPhen 2
Score 0.850 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000123288
Gene: ENSMUSG00000034813
AA Change: E363K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
49 |
60 |
N/A |
INTRINSIC |
|
PDZ
|
65 |
145 |
6.36e-17 |
SMART |
|
PDZ
|
166 |
242 |
1.11e-16 |
SMART |
|
PDZ
|
265 |
339 |
1.73e-18 |
SMART |
|
PDZ
|
583 |
655 |
2.79e-13 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000138410
AA Change: E778K
PolyPhen 2
Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000123234
Gene: ENSMUSG00000034813
AA Change: E778K
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
62 |
136 |
4.86e-13 |
SMART |
|
PDZ
|
160 |
238 |
6.4e-22 |
SMART |
|
PDZ
|
261 |
336 |
1.97e-13 |
SMART |
|
low complexity region
|
393 |
421 |
N/A |
INTRINSIC |
|
low complexity region
|
439 |
456 |
N/A |
INTRINSIC |
|
low complexity region
|
464 |
475 |
N/A |
INTRINSIC |
|
PDZ
|
480 |
560 |
6.36e-17 |
SMART |
|
PDZ
|
581 |
657 |
1.11e-16 |
SMART |
|
PDZ
|
680 |
754 |
1.73e-18 |
SMART |
|
PDZ
|
1013 |
1085 |
2.79e-13 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144825
AA Change: E699K
PolyPhen 2
Score 0.396 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000121670
Gene: ENSMUSG00000034813
AA Change: E699K
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
35 |
109 |
4.86e-13 |
SMART |
|
PDZ
|
133 |
211 |
6.4e-22 |
SMART |
|
PDZ
|
234 |
309 |
1.97e-13 |
SMART |
|
low complexity region
|
326 |
339 |
N/A |
INTRINSIC |
|
low complexity region
|
360 |
377 |
N/A |
INTRINSIC |
|
low complexity region
|
385 |
396 |
N/A |
INTRINSIC |
|
PDZ
|
401 |
481 |
6.36e-17 |
SMART |
|
PDZ
|
502 |
578 |
1.11e-16 |
SMART |
|
PDZ
|
601 |
675 |
1.73e-18 |
SMART |
|
PDZ
|
919 |
991 |
2.79e-13 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000144959
AA Change: E778K
PolyPhen 2
Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000122323
Gene: ENSMUSG00000034813
AA Change: E778K
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
62 |
136 |
4.86e-13 |
SMART |
|
PDZ
|
160 |
238 |
6.4e-22 |
SMART |
|
PDZ
|
261 |
336 |
1.97e-13 |
SMART |
|
low complexity region
|
393 |
421 |
N/A |
INTRINSIC |
|
low complexity region
|
439 |
456 |
N/A |
INTRINSIC |
|
low complexity region
|
464 |
475 |
N/A |
INTRINSIC |
|
PDZ
|
480 |
560 |
6.36e-17 |
SMART |
|
PDZ
|
581 |
657 |
1.11e-16 |
SMART |
|
PDZ
|
680 |
754 |
1.73e-18 |
SMART |
|
PDZ
|
998 |
1070 |
2.79e-13 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147356
AA Change: E779K
PolyPhen 2
Score 0.298 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000115478
Gene: ENSMUSG00000034813
AA Change: E779K
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
63 |
137 |
4.86e-13 |
SMART |
|
PDZ
|
161 |
239 |
6.4e-22 |
SMART |
|
PDZ
|
262 |
337 |
1.97e-13 |
SMART |
|
low complexity region
|
394 |
422 |
N/A |
INTRINSIC |
|
low complexity region
|
440 |
457 |
N/A |
INTRINSIC |
|
low complexity region
|
465 |
476 |
N/A |
INTRINSIC |
|
PDZ
|
481 |
561 |
6.36e-17 |
SMART |
|
PDZ
|
582 |
658 |
1.11e-16 |
SMART |
|
PDZ
|
681 |
755 |
1.73e-18 |
SMART |
|
PDZ
|
999 |
1071 |
2.79e-13 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000147454
AA Change: E778K
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000118073
Gene: ENSMUSG00000034813
AA Change: E778K
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
62 |
136 |
4.86e-13 |
SMART |
|
PDZ
|
160 |
238 |
6.4e-22 |
SMART |
|
PDZ
|
261 |
336 |
1.97e-13 |
SMART |
|
low complexity region
|
393 |
421 |
N/A |
INTRINSIC |
|
low complexity region
|
439 |
456 |
N/A |
INTRINSIC |
|
low complexity region
|
464 |
475 |
N/A |
INTRINSIC |
|
PDZ
|
480 |
560 |
6.36e-17 |
SMART |
|
PDZ
|
581 |
657 |
1.11e-16 |
SMART |
|
PDZ
|
680 |
754 |
1.73e-18 |
SMART |
|
PDZ
|
998 |
1070 |
2.79e-13 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148954
AA Change: E726K
PolyPhen 2
Score 0.241 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000118397
Gene: ENSMUSG00000034813
AA Change: E726K
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
62 |
136 |
4.86e-13 |
SMART |
|
PDZ
|
160 |
238 |
6.4e-22 |
SMART |
|
PDZ
|
261 |
336 |
1.97e-13 |
SMART |
|
low complexity region
|
353 |
366 |
N/A |
INTRINSIC |
|
low complexity region
|
387 |
404 |
N/A |
INTRINSIC |
|
low complexity region
|
412 |
423 |
N/A |
INTRINSIC |
|
PDZ
|
428 |
508 |
6.36e-17 |
SMART |
|
PDZ
|
529 |
605 |
1.11e-16 |
SMART |
|
PDZ
|
628 |
702 |
1.73e-18 |
SMART |
|
PDZ
|
961 |
1033 |
2.79e-13 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154238
AA Change: E363K
PolyPhen 2
Score 0.328 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000122349
Gene: ENSMUSG00000034813
AA Change: E363K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
49 |
60 |
N/A |
INTRINSIC |
|
PDZ
|
65 |
145 |
6.36e-17 |
SMART |
|
PDZ
|
166 |
242 |
1.11e-16 |
SMART |
|
PDZ
|
265 |
339 |
1.73e-18 |
SMART |
|
PDZ
|
598 |
670 |
2.79e-13 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a protein containing multiple PDZ (post synaptic density protein, Drosophila disc large tumor suppressor, and zonula occludens-1 protein) domains. The encoded protein acts as a mediator between cytoskeletal and membrane proteins, particularly in neuronal cells, and facilitates complex formation at the cell membrane. Mutation of this gene can cause embryonic lethality resulting from defects of the dermo-epidermal junction. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]
PHENOTYPE: Homozygous ablation of gene function results in embryonic lethality and blistering skin lesions. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 96 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610021A01Rik |
T |
C |
7: 41,276,327 (GRCm39) |
S677P |
possibly damaging |
Het |
| 5730480H06Rik |
A |
G |
5: 48,531,872 (GRCm39) |
I67V |
probably benign |
Het |
| Adam15 |
T |
A |
3: 89,249,247 (GRCm39) |
Y736F |
probably damaging |
Het |
| Adam29 |
A |
T |
8: 56,325,118 (GRCm39) |
F445L |
possibly damaging |
Het |
| Adgrv1 |
A |
G |
13: 81,641,082 (GRCm39) |
Y3318H |
probably damaging |
Het |
| Akap6 |
A |
G |
12: 52,958,690 (GRCm39) |
Y815C |
probably damaging |
Het |
| Ankar |
T |
A |
1: 72,704,294 (GRCm39) |
D876V |
possibly damaging |
Het |
| Atp6v1g2 |
G |
A |
17: 35,456,733 (GRCm39) |
V106I |
probably benign |
Het |
| Bdp1 |
A |
G |
13: 100,214,370 (GRCm39) |
S490P |
probably benign |
Het |
| Bet1 |
A |
T |
6: 4,077,918 (GRCm39) |
V107D |
probably damaging |
Het |
| Bri3bp |
T |
C |
5: 125,531,390 (GRCm39) |
V112A |
probably damaging |
Het |
| Cage1 |
T |
A |
13: 38,216,351 (GRCm39) |
D33V |
probably damaging |
Het |
| Ccdc146 |
G |
T |
5: 21,535,577 (GRCm39) |
A159E |
probably damaging |
Het |
| Ccnl1 |
C |
A |
3: 65,865,404 (GRCm39) |
G49V |
probably damaging |
Het |
| Cdk13 |
A |
C |
13: 17,926,440 (GRCm39) |
F787V |
|
Het |
| Cdk5r1 |
T |
C |
11: 80,368,480 (GRCm39) |
V49A |
probably benign |
Het |
| Cdon |
G |
A |
9: 35,398,201 (GRCm39) |
V973I |
probably damaging |
Het |
| Cfap298 |
A |
T |
16: 90,724,275 (GRCm39) |
M166K |
probably benign |
Het |
| Chd1l |
T |
A |
3: 97,488,463 (GRCm39) |
K518* |
probably null |
Het |
| Col24a1 |
A |
G |
3: 145,250,960 (GRCm39) |
D1653G |
probably benign |
Het |
| Cstf3 |
G |
T |
2: 104,483,370 (GRCm39) |
V359F |
possibly damaging |
Het |
| Dchs2 |
T |
C |
3: 83,178,193 (GRCm39) |
I1082T |
probably damaging |
Het |
| Dlec1 |
A |
T |
9: 118,956,533 (GRCm39) |
I736F |
probably damaging |
Het |
| Dnah9 |
T |
C |
11: 65,818,475 (GRCm39) |
N3288D |
probably benign |
Het |
| Dpcd |
G |
T |
19: 45,560,422 (GRCm39) |
E82* |
probably null |
Het |
| Ehbp1 |
T |
C |
11: 22,119,124 (GRCm39) |
D182G |
probably damaging |
Het |
| Eif1ad13 |
A |
G |
12: 87,762,507 (GRCm39) |
I76V |
probably benign |
Het |
| Evc2 |
G |
T |
5: 37,544,130 (GRCm39) |
E626D |
probably benign |
Het |
| Evi5 |
T |
C |
5: 107,943,578 (GRCm39) |
E589G |
probably benign |
Het |
| Exoc4 |
T |
C |
6: 33,226,161 (GRCm39) |
I25T |
probably benign |
Het |
| Extl2 |
T |
A |
3: 115,821,145 (GRCm39) |
*331R |
probably null |
Het |
| Fkbp8 |
G |
A |
8: 70,984,324 (GRCm39) |
R225H |
probably damaging |
Het |
| Foxred2 |
A |
T |
15: 77,836,206 (GRCm39) |
S384T |
probably damaging |
Het |
| Garre1 |
A |
T |
7: 33,947,656 (GRCm39) |
C451S |
probably damaging |
Het |
| Glmn |
T |
C |
5: 107,741,731 (GRCm39) |
E18G |
probably damaging |
Het |
| Gm7489 |
A |
C |
15: 53,749,369 (GRCm39) |
Q147P |
unknown |
Het |
| Gm7489 |
C |
A |
15: 53,749,368 (GRCm39) |
Q147K |
unknown |
Het |
| Gm8005 |
T |
A |
14: 42,260,355 (GRCm39) |
I94F |
|
Het |
| Golgb1 |
G |
A |
16: 36,739,967 (GRCm39) |
V2810M |
probably benign |
Het |
| Gpr21 |
T |
C |
2: 37,408,399 (GRCm39) |
L315P |
probably damaging |
Het |
| Herc6 |
T |
G |
6: 57,629,017 (GRCm39) |
S643A |
probably benign |
Het |
| Igkv14-100 |
T |
A |
6: 68,496,317 (GRCm39) |
I70N |
probably damaging |
Het |
| Kcnn3 |
A |
G |
3: 89,516,703 (GRCm39) |
M371V |
probably benign |
Het |
| Kif1a |
T |
A |
1: 92,953,416 (GRCm39) |
H1256L |
probably damaging |
Het |
| Klhdc4 |
A |
G |
8: 122,527,917 (GRCm39) |
S266P |
possibly damaging |
Het |
| Kmt2d |
CTGTTG |
CTG |
15: 98,743,057 (GRCm39) |
|
probably benign |
Het |
| Lefty2 |
T |
A |
1: 180,722,286 (GRCm39) |
L208Q |
probably damaging |
Het |
| Lingo2 |
T |
C |
4: 35,708,450 (GRCm39) |
Y510C |
probably damaging |
Het |
| Lrif1 |
T |
A |
3: 106,639,200 (GRCm39) |
V70D |
probably damaging |
Het |
| Lrrc74a |
A |
T |
12: 86,805,345 (GRCm39) |
K389I |
possibly damaging |
Het |
| Megf8 |
A |
T |
7: 25,054,488 (GRCm39) |
E1868V |
probably benign |
Het |
| Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
| Mmp8 |
A |
G |
9: 7,560,608 (GRCm39) |
D95G |
probably damaging |
Het |
| Mmrn1 |
T |
A |
6: 60,953,408 (GRCm39) |
I563N |
probably damaging |
Het |
| Mroh3 |
T |
C |
1: 136,118,713 (GRCm39) |
T535A |
probably benign |
Het |
| Mroh9 |
A |
G |
1: 162,866,498 (GRCm39) |
L715P |
probably damaging |
Het |
| Myh6 |
G |
T |
14: 55,201,054 (GRCm39) |
A136E |
probably benign |
Het |
| Myom1 |
G |
T |
17: 71,412,475 (GRCm39) |
E1231* |
probably null |
Het |
| Nod2 |
G |
T |
8: 89,397,101 (GRCm39) |
C837F |
probably benign |
Het |
| Nos2 |
T |
A |
11: 78,839,984 (GRCm39) |
W698R |
probably damaging |
Het |
| Nup210l |
C |
T |
3: 90,107,173 (GRCm39) |
P1570L |
probably benign |
Het |
| Oas1a |
A |
T |
5: 121,040,028 (GRCm39) |
S188T |
possibly damaging |
Het |
| Ogfr |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
2: 180,237,059 (GRCm39) |
|
probably benign |
Het |
| Opa1 |
T |
C |
16: 29,430,255 (GRCm39) |
M394T |
|
Het |
| Or1e1d-ps1 |
T |
A |
11: 73,819,375 (GRCm39) |
D108E |
possibly damaging |
Het |
| Or5an6 |
A |
T |
19: 12,371,983 (GRCm39) |
M119L |
probably damaging |
Het |
| Or5p66 |
A |
G |
7: 107,885,487 (GRCm39) |
M282T |
probably benign |
Het |
| Or7g21 |
T |
A |
9: 19,032,760 (GRCm39) |
S167T |
probably benign |
Het |
| Or7g29 |
A |
G |
9: 19,286,677 (GRCm39) |
S167P |
possibly damaging |
Het |
| Oxct2a |
T |
A |
4: 123,217,129 (GRCm39) |
D84V |
probably damaging |
Het |
| Oxct2b |
A |
C |
4: 123,011,019 (GRCm39) |
D313A |
probably damaging |
Het |
| Phldb3 |
G |
A |
7: 24,328,372 (GRCm39) |
V639M |
probably damaging |
Het |
| Plppr4 |
T |
A |
3: 117,115,610 (GRCm39) |
N749I |
probably benign |
Het |
| Pmp22 |
G |
T |
11: 63,024,065 (GRCm39) |
V25F |
probably benign |
Het |
| Pofut2 |
A |
T |
10: 77,101,763 (GRCm39) |
M267L |
probably benign |
Het |
| Ppp1r42 |
T |
A |
1: 10,039,067 (GRCm39) |
N351I |
possibly damaging |
Het |
| Prl2b1 |
T |
C |
13: 27,572,479 (GRCm39) |
E37G |
probably benign |
Het |
| Ptpro |
G |
T |
6: 137,391,318 (GRCm39) |
V813F |
probably benign |
Het |
| Rnaseh2c |
T |
C |
19: 5,652,343 (GRCm39) |
F99L |
probably benign |
Het |
| Scn9a |
T |
A |
2: 66,363,708 (GRCm39) |
I857F |
probably damaging |
Het |
| Slf1 |
A |
G |
13: 77,197,204 (GRCm39) |
|
probably null |
Het |
| Smyd2 |
T |
C |
1: 189,612,983 (GRCm39) |
*434W |
probably null |
Het |
| Spata31h1 |
T |
A |
10: 82,125,453 (GRCm39) |
N2519I |
possibly damaging |
Het |
| Stk40 |
A |
G |
4: 126,030,650 (GRCm39) |
D290G |
probably damaging |
Het |
| Tdo2 |
C |
A |
3: 81,879,001 (GRCm39) |
W82C |
probably damaging |
Het |
| Tmem101 |
A |
G |
11: 102,044,194 (GRCm39) |
V231A |
probably damaging |
Het |
| Tns2 |
G |
A |
15: 102,015,577 (GRCm39) |
E160K |
probably damaging |
Het |
| Trim31 |
A |
T |
17: 37,212,551 (GRCm39) |
D174V |
probably benign |
Het |
| Unc13d |
A |
T |
11: 115,961,144 (GRCm39) |
Y404* |
probably null |
Het |
| Ush2a |
C |
A |
1: 188,092,063 (GRCm39) |
Y531* |
probably null |
Het |
| Vapa |
G |
A |
17: 65,889,736 (GRCm39) |
P144S |
probably benign |
Het |
| Vmn1r212 |
C |
T |
13: 23,067,443 (GRCm39) |
V297M |
possibly damaging |
Het |
| Vmn2r80 |
A |
C |
10: 79,030,712 (GRCm39) |
N846T |
probably damaging |
Het |
| Zfp811 |
A |
G |
17: 33,017,740 (GRCm39) |
V100A |
probably benign |
Het |
| Zfp958 |
T |
A |
8: 4,678,298 (GRCm39) |
C108S |
probably damaging |
Het |
| Zic5 |
G |
A |
14: 122,697,100 (GRCm39) |
T505I |
unknown |
Het |
|
| Other mutations in Grip1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01309:Grip1
|
APN |
10 |
119,767,207 (GRCm39) |
nonsense |
probably null |
|
|
IGL01374:Grip1
|
APN |
10 |
119,885,273 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01592:Grip1
|
APN |
10 |
119,765,908 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02207:Grip1
|
APN |
10 |
119,911,214 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02222:Grip1
|
APN |
10 |
119,835,714 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02225:Grip1
|
APN |
10 |
119,885,358 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02447:Grip1
|
APN |
10 |
119,855,976 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02492:Grip1
|
APN |
10 |
119,765,945 (GRCm39) |
splice site |
probably benign |
|
|
IGL02522:Grip1
|
APN |
10 |
119,767,154 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02574:Grip1
|
APN |
10 |
119,778,818 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02718:Grip1
|
APN |
10 |
119,911,420 (GRCm39) |
makesense |
probably null |
|
|
IGL02751:Grip1
|
APN |
10 |
119,814,482 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL03221:Grip1
|
APN |
10 |
119,822,299 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03377:Grip1
|
APN |
10 |
119,890,937 (GRCm39) |
missense |
probably damaging |
0.98 |
|
PIT4403001:Grip1
|
UTSW |
10 |
119,765,833 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0304:Grip1
|
UTSW |
10 |
119,911,376 (GRCm39) |
missense |
probably benign |
0.31 |
|
R0681:Grip1
|
UTSW |
10 |
119,846,135 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0760:Grip1
|
UTSW |
10 |
119,853,983 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1457:Grip1
|
UTSW |
10 |
119,822,255 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1506:Grip1
|
UTSW |
10 |
119,814,356 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1541:Grip1
|
UTSW |
10 |
119,836,448 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1553:Grip1
|
UTSW |
10 |
119,890,756 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1709:Grip1
|
UTSW |
10 |
119,733,620 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2055:Grip1
|
UTSW |
10 |
119,885,416 (GRCm39) |
splice site |
probably benign |
|
|
R2059:Grip1
|
UTSW |
10 |
119,874,603 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R2261:Grip1
|
UTSW |
10 |
119,821,489 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2475:Grip1
|
UTSW |
10 |
119,814,401 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3777:Grip1
|
UTSW |
10 |
119,821,535 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3849:Grip1
|
UTSW |
10 |
119,765,863 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3956:Grip1
|
UTSW |
10 |
119,765,931 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4643:Grip1
|
UTSW |
10 |
119,856,006 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4693:Grip1
|
UTSW |
10 |
119,836,459 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4724:Grip1
|
UTSW |
10 |
119,874,588 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4843:Grip1
|
UTSW |
10 |
119,765,920 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4884:Grip1
|
UTSW |
10 |
119,911,211 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4912:Grip1
|
UTSW |
10 |
119,767,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5185:Grip1
|
UTSW |
10 |
119,767,164 (GRCm39) |
missense |
probably benign |
0.37 |
|
R5291:Grip1
|
UTSW |
10 |
119,922,874 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5293:Grip1
|
UTSW |
10 |
119,733,640 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5296:Grip1
|
UTSW |
10 |
119,765,833 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5302:Grip1
|
UTSW |
10 |
119,855,982 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5541:Grip1
|
UTSW |
10 |
119,908,623 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5792:Grip1
|
UTSW |
10 |
119,821,385 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5861:Grip1
|
UTSW |
10 |
119,765,875 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5905:Grip1
|
UTSW |
10 |
119,821,397 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5949:Grip1
|
UTSW |
10 |
119,886,147 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6112:Grip1
|
UTSW |
10 |
119,829,137 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6166:Grip1
|
UTSW |
10 |
119,908,623 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6167:Grip1
|
UTSW |
10 |
119,733,702 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6193:Grip1
|
UTSW |
10 |
119,874,219 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6218:Grip1
|
UTSW |
10 |
119,822,251 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6267:Grip1
|
UTSW |
10 |
119,911,369 (GRCm39) |
nonsense |
probably null |
|
|
R6296:Grip1
|
UTSW |
10 |
119,911,369 (GRCm39) |
nonsense |
probably null |
|
|
R6490:Grip1
|
UTSW |
10 |
119,822,329 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6543:Grip1
|
UTSW |
10 |
119,821,499 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6558:Grip1
|
UTSW |
10 |
119,290,288 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6995:Grip1
|
UTSW |
10 |
119,822,375 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7122:Grip1
|
UTSW |
10 |
119,871,279 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R7157:Grip1
|
UTSW |
10 |
119,781,061 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7410:Grip1
|
UTSW |
10 |
119,855,925 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7447:Grip1
|
UTSW |
10 |
119,922,871 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7539:Grip1
|
UTSW |
10 |
119,890,776 (GRCm39) |
missense |
probably benign |
0.17 |
|
R7586:Grip1
|
UTSW |
10 |
119,913,043 (GRCm39) |
splice site |
probably null |
|
|
R7768:Grip1
|
UTSW |
10 |
119,874,302 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7831:Grip1
|
UTSW |
10 |
119,854,011 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7896:Grip1
|
UTSW |
10 |
119,814,450 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R8103:Grip1
|
UTSW |
10 |
119,814,440 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8254:Grip1
|
UTSW |
10 |
119,890,810 (GRCm39) |
nonsense |
probably null |
|
|
R8688:Grip1
|
UTSW |
10 |
119,835,809 (GRCm39) |
missense |
probably benign |
0.12 |
|
R8823:Grip1
|
UTSW |
10 |
119,811,856 (GRCm39) |
missense |
|
|
|
R8837:Grip1
|
UTSW |
10 |
119,765,940 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8885:Grip1
|
UTSW |
10 |
119,290,192 (GRCm39) |
start gained |
probably benign |
|
|
R8951:Grip1
|
UTSW |
10 |
119,874,509 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9042:Grip1
|
UTSW |
10 |
119,836,438 (GRCm39) |
missense |
probably benign |
0.14 |
|
R9045:Grip1
|
UTSW |
10 |
119,871,356 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9237:Grip1
|
UTSW |
10 |
119,911,310 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9254:Grip1
|
UTSW |
10 |
119,780,961 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9259:Grip1
|
UTSW |
10 |
119,874,569 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R9260:Grip1
|
UTSW |
10 |
119,874,569 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R9307:Grip1
|
UTSW |
10 |
119,821,454 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9379:Grip1
|
UTSW |
10 |
119,780,961 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9546:Grip1
|
UTSW |
10 |
119,874,569 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R9547:Grip1
|
UTSW |
10 |
119,874,569 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R9548:Grip1
|
UTSW |
10 |
119,874,569 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R9549:Grip1
|
UTSW |
10 |
119,874,569 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R9583:Grip1
|
UTSW |
10 |
119,874,569 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R9584:Grip1
|
UTSW |
10 |
119,874,569 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R9610:Grip1
|
UTSW |
10 |
119,874,569 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R9611:Grip1
|
UTSW |
10 |
119,874,569 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R9684:Grip1
|
UTSW |
10 |
119,874,569 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R9687:Grip1
|
UTSW |
10 |
119,874,569 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R9690:Grip1
|
UTSW |
10 |
119,874,569 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R9691:Grip1
|
UTSW |
10 |
119,874,569 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R9742:Grip1
|
UTSW |
10 |
119,874,569 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R9744:Grip1
|
UTSW |
10 |
119,874,569 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R9752:Grip1
|
UTSW |
10 |
119,871,256 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R9758:Grip1
|
UTSW |
10 |
119,874,569 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R9762:Grip1
|
UTSW |
10 |
119,811,906 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9764:Grip1
|
UTSW |
10 |
119,874,569 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
RF011:Grip1
|
UTSW |
10 |
119,767,220 (GRCm39) |
missense |
probably null |
0.97 |
|
Z1176:Grip1
|
UTSW |
10 |
119,655,388 (GRCm39) |
unclassified |
probably benign |
|
|
Z1177:Grip1
|
UTSW |
10 |
119,822,349 (GRCm39) |
missense |
probably benign |
0.06 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCTCCCCTAAAAGAGTGTGC -3'
(R):5'- CAGGTTGTTCACGGTAGACAC -3'
Sequencing Primer
(F):5'- TCCCCTAAAAGAGTGTGCAGTGTC -3'
(R):5'- GTTCACGGTAGACACATTGAGTC -3'
|
| Posted On |
2022-09-12 |
Incidental Mutation