Incidental Mutation 'R7768:Grip1'
| ID |
598401 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Grip1
|
| Ensembl Gene |
ENSMUSG00000034813 |
| Gene Name |
glutamate receptor interacting protein 1 |
| Synonyms |
4931400F03Rik, eb |
| MMRRC Submission |
045824-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7768 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
119289810-119923172 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 119874302 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 745
(T745A)
|
| 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: T694A
PolyPhen 2
Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000042436
Gene: ENSMUSG00000034813
AA Change: T694A
| 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 |
possibly damaging
Transcript: ENSMUST00000077871
AA Change: T667A
PolyPhen 2
Score 0.770 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000077033
Gene: ENSMUSG00000034813
AA Change: T667A
| 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 damaging
Transcript: ENSMUST00000081260
AA Change: T330A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000080016
Gene: ENSMUSG00000034813
AA Change: T330A
| 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 |
possibly damaging
Transcript: ENSMUST00000105261
AA Change: T330A
PolyPhen 2
Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000100896
Gene: ENSMUSG00000034813
AA Change: T330A
| 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 |
probably benign
Transcript: ENSMUST00000105262
AA Change: T693A
PolyPhen 2
Score 0.251 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000100897
Gene: ENSMUSG00000034813
AA Change: T693A
| 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 |
probably benign
Transcript: ENSMUST00000130387
AA Change: T330A
PolyPhen 2
Score 0.273 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000123288
Gene: ENSMUSG00000034813
AA Change: T330A
| 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 |
probably damaging
Transcript: ENSMUST00000138410
AA Change: T745A
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000123234
Gene: ENSMUSG00000034813
AA Change: T745A
| 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 damaging
Transcript: ENSMUST00000144825
AA Change: T666A
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000121670
Gene: ENSMUSG00000034813
AA Change: T666A
| 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: T745A
PolyPhen 2
Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000122323
Gene: ENSMUSG00000034813
AA Change: T745A
| 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 |
possibly damaging
Transcript: ENSMUST00000147356
AA Change: T746A
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000115478
Gene: ENSMUSG00000034813
AA Change: T746A
| 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 |
possibly damaging
Transcript: ENSMUST00000147454
AA Change: T745A
PolyPhen 2
Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000118073
Gene: ENSMUSG00000034813
AA Change: T745A
| 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: T693A
PolyPhen 2
Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000118397
Gene: ENSMUSG00000034813
AA Change: T693A
| 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: T330A
PolyPhen 2
Score 0.430 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000122349
Gene: ENSMUSG00000034813
AA Change: T330A
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 87 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn2 |
A |
G |
13: 12,297,480 (GRCm39) |
V479A |
possibly damaging |
Het |
| Acy1 |
G |
A |
9: 106,310,817 (GRCm39) |
T317M |
possibly damaging |
Het |
| Adgrg6 |
A |
T |
10: 14,307,410 (GRCm39) |
D797E |
probably benign |
Het |
| Ank1 |
C |
T |
8: 23,588,013 (GRCm39) |
A552V |
probably benign |
Het |
| Ankrd13c |
A |
G |
3: 157,694,284 (GRCm39) |
T262A |
probably benign |
Het |
| Ap4e1 |
A |
T |
2: 126,888,854 (GRCm39) |
N468Y |
probably damaging |
Het |
| Apbb1 |
T |
C |
7: 105,216,295 (GRCm39) |
I367V |
probably benign |
Het |
| Arl6 |
A |
G |
16: 59,452,699 (GRCm39) |
I33T |
probably damaging |
Het |
| Asgr2 |
T |
C |
11: 69,996,242 (GRCm39) |
I228T |
probably damaging |
Het |
| Aspn |
A |
G |
13: 49,710,871 (GRCm39) |
H172R |
probably damaging |
Het |
| Bclaf1 |
T |
A |
10: 20,215,517 (GRCm39) |
F868L |
probably benign |
Het |
| Cacna1i |
G |
A |
15: 80,265,389 (GRCm39) |
R1547H |
probably damaging |
Het |
| Celsr1 |
G |
T |
15: 85,816,610 (GRCm39) |
Q1778K |
probably benign |
Het |
| Cep250 |
T |
C |
2: 155,827,929 (GRCm39) |
L42S |
|
Het |
| Clnk |
C |
A |
5: 38,925,501 (GRCm39) |
R100L |
probably damaging |
Het |
| Cpvl |
A |
G |
6: 53,873,476 (GRCm39) |
V420A |
possibly damaging |
Het |
| Dicer1 |
C |
A |
12: 104,672,956 (GRCm39) |
G825V |
probably damaging |
Het |
| Dmxl2 |
T |
C |
9: 54,288,223 (GRCm39) |
Y2628C |
probably damaging |
Het |
| Dnah7b |
T |
A |
1: 46,176,634 (GRCm39) |
H751Q |
probably benign |
Het |
| Dnhd1 |
C |
A |
7: 105,370,302 (GRCm39) |
R4576S |
possibly damaging |
Het |
| Dzip1 |
A |
T |
14: 119,116,910 (GRCm39) |
D775E |
probably benign |
Het |
| Erich3 |
T |
A |
3: 154,453,968 (GRCm39) |
M381K |
probably benign |
Het |
| Fam193a |
A |
G |
5: 34,623,135 (GRCm39) |
D1241G |
possibly damaging |
Het |
| Gbx2 |
A |
G |
1: 89,856,706 (GRCm39) |
L228P |
probably benign |
Het |
| Ggt7 |
A |
T |
2: 155,348,421 (GRCm39) |
M77K |
possibly damaging |
Het |
| Gpr26 |
T |
A |
7: 131,576,077 (GRCm39) |
I247K |
probably damaging |
Het |
| Gusb |
A |
T |
5: 130,029,246 (GRCm39) |
H178Q |
probably benign |
Het |
| Hacl1 |
T |
C |
14: 31,338,437 (GRCm39) |
Y380C |
probably damaging |
Het |
| Hdac9 |
T |
C |
12: 34,440,239 (GRCm39) |
H380R |
possibly damaging |
Het |
| Icam4 |
T |
A |
9: 20,941,290 (GRCm39) |
L143Q |
probably damaging |
Het |
| Ikbkb |
T |
A |
8: 23,185,252 (GRCm39) |
I43F |
probably damaging |
Het |
| Ints11 |
G |
T |
4: 155,971,396 (GRCm39) |
K303N |
probably damaging |
Het |
| Itpa |
A |
T |
2: 130,509,836 (GRCm39) |
N16I |
probably damaging |
Het |
| Kank1 |
GCGAACG |
GCG |
19: 25,388,569 (GRCm39) |
|
probably null |
Het |
| Kat6a |
T |
A |
8: 23,393,228 (GRCm39) |
N235K |
probably damaging |
Het |
| Kmt2a |
C |
T |
9: 44,731,900 (GRCm39) |
V2806I |
unknown |
Het |
| Loxhd1 |
T |
A |
18: 77,472,637 (GRCm39) |
F1051L |
probably damaging |
Het |
| Map2 |
A |
G |
1: 66,453,642 (GRCm39) |
E844G |
possibly damaging |
Het |
| Mmp7 |
T |
A |
9: 7,697,749 (GRCm39) |
Y261* |
probably null |
Het |
| Muc4 |
A |
C |
16: 32,576,568 (GRCm39) |
M2023L |
unknown |
Het |
| Mybpc1 |
C |
A |
10: 88,378,234 (GRCm39) |
G688V |
probably damaging |
Het |
| Myo3a |
A |
G |
2: 22,245,954 (GRCm39) |
T34A |
probably damaging |
Het |
| Nrxn2 |
A |
G |
19: 6,531,409 (GRCm39) |
T683A |
possibly damaging |
Het |
| Nup160 |
A |
G |
2: 90,530,460 (GRCm39) |
I444V |
probably damaging |
Het |
| Or2t29 |
A |
T |
11: 58,433,466 (GRCm39) |
S292T |
probably damaging |
Het |
| Or2t29 |
A |
T |
11: 58,433,693 (GRCm39) |
M216K |
possibly damaging |
Het |
| Or4f4-ps1 |
A |
C |
2: 111,330,198 (GRCm39) |
K200N |
possibly damaging |
Het |
| Or8w1 |
T |
C |
2: 87,465,657 (GRCm39) |
M145V |
probably benign |
Het |
| Pcdha1 |
A |
G |
18: 37,065,220 (GRCm39) |
E628G |
probably damaging |
Het |
| Pcdha12 |
T |
C |
18: 37,155,404 (GRCm39) |
S708P |
probably damaging |
Het |
| Pira2 |
A |
T |
7: 3,844,696 (GRCm39) |
F445Y |
probably benign |
Het |
| Pkd1l2 |
A |
G |
8: 117,781,599 (GRCm39) |
|
probably null |
Het |
| Pla2g6 |
T |
C |
15: 79,181,514 (GRCm39) |
D577G |
probably damaging |
Het |
| Pla2r1 |
G |
T |
2: 60,279,290 (GRCm39) |
D763E |
probably benign |
Het |
| Pramel18 |
A |
C |
4: 101,769,010 (GRCm39) |
I454L |
probably benign |
Het |
| Psg18 |
A |
T |
7: 18,079,953 (GRCm39) |
I416N |
probably damaging |
Het |
| Rapgef6 |
G |
T |
11: 54,517,414 (GRCm39) |
V369F |
probably damaging |
Het |
| Rasal3 |
T |
C |
17: 32,615,767 (GRCm39) |
E357G |
probably damaging |
Het |
| Rhbdl3 |
G |
A |
11: 80,221,447 (GRCm39) |
R195Q |
probably benign |
Het |
| Rnf216 |
A |
T |
5: 143,084,199 (GRCm39) |
M1K |
probably null |
Het |
| Rspry1 |
C |
A |
8: 95,356,469 (GRCm39) |
D165E |
probably damaging |
Het |
| Rwdd2b |
G |
A |
16: 87,233,633 (GRCm39) |
L156F |
probably benign |
Het |
| Scn11a |
T |
A |
9: 119,644,338 (GRCm39) |
I141F |
probably benign |
Het |
| Sirt2 |
A |
T |
7: 28,482,284 (GRCm39) |
T198S |
probably benign |
Het |
| Slc2a1 |
A |
G |
4: 118,989,644 (GRCm39) |
N94D |
probably damaging |
Het |
| Slc33a1 |
A |
G |
3: 63,855,039 (GRCm39) |
F407S |
possibly damaging |
Het |
| Slc38a4 |
A |
C |
15: 96,906,545 (GRCm39) |
L356R |
probably damaging |
Het |
| Slc43a1 |
T |
A |
2: 84,687,215 (GRCm39) |
L372Q |
probably damaging |
Het |
| Slc6a6 |
T |
A |
6: 91,716,946 (GRCm39) |
I274N |
probably damaging |
Het |
| Smchd1 |
C |
T |
17: 71,718,906 (GRCm39) |
G821D |
probably damaging |
Het |
| Spata33 |
T |
C |
8: 123,941,146 (GRCm39) |
F65S |
unknown |
Het |
| Spmip5 |
A |
T |
19: 58,781,174 (GRCm39) |
Y25N |
probably damaging |
Het |
| Stx19 |
A |
G |
16: 62,642,567 (GRCm39) |
T128A |
probably benign |
Het |
| Tas2r103 |
T |
C |
6: 133,013,812 (GRCm39) |
M85V |
probably benign |
Het |
| Tas2r117 |
C |
T |
6: 132,780,485 (GRCm39) |
L208F |
probably damaging |
Het |
| Tcirg1 |
A |
T |
19: 3,952,900 (GRCm39) |
I233N |
possibly damaging |
Het |
| Uba6 |
C |
A |
5: 86,300,779 (GRCm39) |
W192L |
probably benign |
Het |
| Ube3a |
T |
C |
7: 58,938,525 (GRCm39) |
I761T |
probably damaging |
Het |
| Unc80 |
T |
C |
1: 66,549,754 (GRCm39) |
S671P |
possibly damaging |
Het |
| Usp8 |
A |
G |
2: 126,593,043 (GRCm39) |
Q766R |
probably damaging |
Het |
| Vmn2r103 |
A |
G |
17: 20,032,314 (GRCm39) |
N696S |
probably damaging |
Het |
| Vmn2r14 |
G |
A |
5: 109,368,086 (GRCm39) |
T302I |
probably benign |
Het |
| Vmn2r50 |
G |
A |
7: 9,771,298 (GRCm39) |
A801V |
probably damaging |
Het |
| Vmn2r85 |
T |
G |
10: 130,254,562 (GRCm39) |
Q707H |
probably damaging |
Het |
| Wsb2 |
G |
A |
5: 117,501,787 (GRCm39) |
V51M |
probably benign |
Het |
| Xdh |
T |
C |
17: 74,246,831 (GRCm39) |
T78A |
probably benign |
Het |
| Zfp442 |
T |
C |
2: 150,250,241 (GRCm39) |
K554E |
possibly damaging |
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 |
|
|
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 |
|
R9612: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'- AGGGATTGTATCTACCTCCCC -3'
(R):5'- AGATTGGGCTTTACAGACAGGG -3'
Sequencing Primer
(F):5'- CCCTGTCTGGTGTGTCTACC -3'
(R):5'- CTTTACAGACAGGGAAACAGGGC -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation