Incidental Mutation 'R6426:Gm3604'
| ID |
518331 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm3604
|
| Ensembl Gene |
ENSMUSG00000094942 |
| Gene Name |
predicted gene 3604 |
| Synonyms |
|
| MMRRC Submission |
044565-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.128)
|
| Stock # |
R6426 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
62516142-62530991 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 62517436 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 307
(D307E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139845
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107989]
[ENSMUST00000187656]
[ENSMUST00000202194]
|
| AlphaFold |
A0A087WPN2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107989
AA Change: D306E
PolyPhen 2
Score 0.403 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000103623
Gene: ENSMUSG00000094942
AA Change: D306E
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
3 |
65 |
4.49e-17 |
SMART |
|
ZnF_C2H2
|
132 |
154 |
2.71e-2 |
SMART |
|
ZnF_C2H2
|
160 |
182 |
1.3e-4 |
SMART |
|
ZnF_C2H2
|
188 |
210 |
5.21e-4 |
SMART |
|
ZnF_C2H2
|
216 |
238 |
1.82e-3 |
SMART |
|
ZnF_C2H2
|
244 |
266 |
7.78e-3 |
SMART |
|
ZnF_C2H2
|
272 |
294 |
3.69e-4 |
SMART |
|
ZnF_C2H2
|
300 |
322 |
3.95e-4 |
SMART |
|
ZnF_C2H2
|
328 |
350 |
9.08e-4 |
SMART |
|
ZnF_C2H2
|
356 |
378 |
1.45e-2 |
SMART |
|
ZnF_C2H2
|
384 |
406 |
1.92e-2 |
SMART |
|
ZnF_C2H2
|
412 |
434 |
1.3e-4 |
SMART |
|
ZnF_C2H2
|
440 |
462 |
4.87e-4 |
SMART |
|
ZnF_C2H2
|
468 |
490 |
1.4e-4 |
SMART |
|
ZnF_C2H2
|
496 |
518 |
3.95e-4 |
SMART |
|
ZnF_C2H2
|
524 |
546 |
2.29e1 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000187656
AA Change: D307E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000139845
Gene: ENSMUSG00000094942
AA Change: D307E
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
4 |
66 |
1.9e-19 |
SMART |
|
ZnF_C2H2
|
133 |
155 |
1.2e-4 |
SMART |
|
ZnF_C2H2
|
161 |
183 |
5.5e-7 |
SMART |
|
ZnF_C2H2
|
189 |
211 |
2.3e-6 |
SMART |
|
ZnF_C2H2
|
217 |
239 |
7.5e-6 |
SMART |
|
ZnF_C2H2
|
245 |
267 |
3.4e-5 |
SMART |
|
ZnF_C2H2
|
273 |
295 |
1.5e-6 |
SMART |
|
ZnF_C2H2
|
301 |
323 |
1.7e-6 |
SMART |
|
ZnF_C2H2
|
329 |
351 |
3.7e-6 |
SMART |
|
ZnF_C2H2
|
357 |
379 |
6.3e-5 |
SMART |
|
ZnF_C2H2
|
385 |
407 |
7.8e-5 |
SMART |
|
ZnF_C2H2
|
413 |
435 |
5.5e-7 |
SMART |
|
ZnF_C2H2
|
441 |
463 |
2e-6 |
SMART |
|
ZnF_C2H2
|
469 |
491 |
5.8e-7 |
SMART |
|
ZnF_C2H2
|
497 |
519 |
1.6e-6 |
SMART |
|
ZnF_C2H2
|
525 |
547 |
9.6e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202194
|
| SMART Domains |
Protein: ENSMUSP00000144048
Gene: ENSMUSG00000094942
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
4 |
65 |
1.2e-19 |
SMART |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.7%
- 10x: 98.1%
- 20x: 93.5%
|
| Validation Efficiency |
100% (34/34) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abat |
C |
T |
16: 8,420,300 (GRCm39) |
|
probably benign |
Het |
| Adcyap1r1 |
T |
G |
6: 55,471,172 (GRCm39) |
L365R |
probably damaging |
Het |
| Adgre4 |
A |
G |
17: 56,109,196 (GRCm39) |
N401S |
probably benign |
Het |
| Adgrl3 |
A |
T |
5: 81,874,717 (GRCm39) |
S1073C |
probably damaging |
Het |
| Bicral |
G |
A |
17: 47,141,005 (GRCm39) |
P26S |
probably benign |
Het |
| Cst3 |
G |
T |
2: 148,713,917 (GRCm39) |
T129K |
probably benign |
Het |
| Cyp26a1 |
T |
C |
19: 37,687,753 (GRCm39) |
M287T |
probably benign |
Het |
| Daam2 |
C |
T |
17: 49,776,404 (GRCm39) |
E828K |
probably damaging |
Het |
| Dmxl1 |
T |
C |
18: 49,997,645 (GRCm39) |
V611A |
probably damaging |
Het |
| Fam149a |
C |
A |
8: 45,834,611 (GRCm39) |
A63S |
probably benign |
Het |
| Fhip2a |
T |
G |
19: 57,371,610 (GRCm39) |
L574R |
probably damaging |
Het |
| Foxred2 |
C |
G |
15: 77,837,508 (GRCm39) |
A243P |
probably damaging |
Het |
| Lca5 |
G |
A |
9: 83,277,707 (GRCm39) |
Q546* |
probably null |
Het |
| Mfsd4b1 |
T |
C |
10: 39,882,073 (GRCm39) |
T71A |
possibly damaging |
Het |
| Onecut1 |
A |
G |
9: 74,769,631 (GRCm39) |
H18R |
probably damaging |
Het |
| Or5a1 |
A |
G |
19: 12,097,212 (GRCm39) |
V288A |
probably benign |
Het |
| Paqr7 |
A |
G |
4: 134,234,278 (GRCm39) |
Y45C |
probably damaging |
Het |
| Pcsk5 |
G |
T |
19: 17,595,093 (GRCm39) |
Q414K |
probably damaging |
Het |
| Ppp4r2 |
T |
C |
6: 100,829,558 (GRCm39) |
Y77H |
probably damaging |
Het |
| Prr19 |
A |
G |
7: 25,003,262 (GRCm39) |
D292G |
probably damaging |
Het |
| Pum1 |
G |
A |
4: 130,481,283 (GRCm39) |
R464H |
probably damaging |
Het |
| Rhoq |
G |
T |
17: 87,302,442 (GRCm39) |
R126L |
probably damaging |
Het |
| Sdhb |
A |
G |
4: 140,701,029 (GRCm39) |
K162E |
probably benign |
Het |
| Sema3d |
G |
A |
5: 12,613,231 (GRCm39) |
G436E |
probably damaging |
Het |
| Sf3b1 |
A |
T |
1: 55,038,814 (GRCm39) |
M823K |
probably benign |
Het |
| Smc1b |
C |
T |
15: 84,976,232 (GRCm39) |
R825Q |
probably benign |
Het |
| Syne2 |
G |
T |
12: 75,969,857 (GRCm39) |
E977D |
probably null |
Het |
| Tns2 |
A |
T |
15: 102,015,472 (GRCm39) |
M125L |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,542,313 (GRCm39) |
K31812* |
probably null |
Het |
| Ube4b |
G |
A |
4: 149,510,453 (GRCm39) |
|
probably benign |
Het |
| Vmn2r91 |
G |
A |
17: 18,355,865 (GRCm39) |
|
probably null |
Het |
| Zbtb49 |
G |
A |
5: 38,360,431 (GRCm39) |
|
probably null |
Het |
| Zswim8 |
T |
A |
14: 20,768,594 (GRCm39) |
S1035T |
probably damaging |
Het |
|
| Other mutations in Gm3604 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01869:Gm3604
|
APN |
13 |
62,517,954 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02601:Gm3604
|
APN |
13 |
62,517,990 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL03386:Gm3604
|
APN |
13 |
62,517,981 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1539:Gm3604
|
UTSW |
13 |
62,519,414 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R1771:Gm3604
|
UTSW |
13 |
62,517,888 (GRCm39) |
nonsense |
probably null |
|
|
R1776:Gm3604
|
UTSW |
13 |
62,517,888 (GRCm39) |
nonsense |
probably null |
|
|
R1919:Gm3604
|
UTSW |
13 |
62,517,756 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1954:Gm3604
|
UTSW |
13 |
62,517,025 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2093:Gm3604
|
UTSW |
13 |
62,517,420 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R2291:Gm3604
|
UTSW |
13 |
62,519,657 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2909:Gm3604
|
UTSW |
13 |
62,516,832 (GRCm39) |
missense |
probably benign |
0.43 |
|
R3195:Gm3604
|
UTSW |
13 |
62,517,868 (GRCm39) |
nonsense |
probably null |
|
|
R3196:Gm3604
|
UTSW |
13 |
62,517,868 (GRCm39) |
nonsense |
probably null |
|
|
R3924:Gm3604
|
UTSW |
13 |
62,518,044 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4328:Gm3604
|
UTSW |
13 |
62,517,079 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4543:Gm3604
|
UTSW |
13 |
62,517,970 (GRCm39) |
missense |
probably benign |
|
|
R4830:Gm3604
|
UTSW |
13 |
62,516,857 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5129:Gm3604
|
UTSW |
13 |
62,517,588 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5496:Gm3604
|
UTSW |
13 |
62,519,393 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6184:Gm3604
|
UTSW |
13 |
62,519,659 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6925:Gm3604
|
UTSW |
13 |
62,517,204 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7080:Gm3604
|
UTSW |
13 |
62,518,109 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7182:Gm3604
|
UTSW |
13 |
62,519,689 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7572:Gm3604
|
UTSW |
13 |
62,518,060 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7750:Gm3604
|
UTSW |
13 |
62,517,810 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7960:Gm3604
|
UTSW |
13 |
62,517,587 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8023:Gm3604
|
UTSW |
13 |
62,517,683 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8062:Gm3604
|
UTSW |
13 |
62,518,155 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8093:Gm3604
|
UTSW |
13 |
62,517,363 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8532:Gm3604
|
UTSW |
13 |
62,516,769 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R9262:Gm3604
|
UTSW |
13 |
62,517,697 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9659:Gm3604
|
UTSW |
13 |
62,519,724 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9673:Gm3604
|
UTSW |
13 |
62,517,969 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9788:Gm3604
|
UTSW |
13 |
62,519,724 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTTCTTCTATGAATGTGGAGATGAC -3'
(R):5'- TCACAGAAGAACACATACAGGAG -3'
Sequencing Primer
(F):5'- CTGTATTGGGAAAAGGCTTTATCAC -3'
(R):5'- AGCCTTTTCTGAGAAATGTAGTCTCC -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation