Incidental Mutation 'R9511:Gm19410'
| ID |
718170 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm19410
|
| Ensembl Gene |
ENSMUSG00000109372 |
| Gene Name |
predicted gene, 19410 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.163)
|
| Stock # |
R9511 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
36232944-36285201 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 36257848 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 762
(D762V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147162
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000207505]
|
| AlphaFold |
A0A140LJC7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000207505
AA Change: D762V
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
99% (69/70) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933409G03Rik |
A |
T |
2: 68,445,848 (GRCm39) |
|
probably benign |
Het |
| Abca13 |
T |
A |
11: 9,278,130 (GRCm39) |
S3103R |
probably benign |
Het |
| Alg9 |
A |
C |
9: 50,717,525 (GRCm39) |
Y436S |
probably damaging |
Het |
| Ankar |
G |
A |
1: 72,719,161 (GRCm39) |
R563C |
probably benign |
Het |
| Ankrd34a |
C |
A |
3: 96,505,401 (GRCm39) |
R202S |
probably benign |
Het |
| Art4 |
T |
A |
6: 136,831,613 (GRCm39) |
N176I |
possibly damaging |
Het |
| Bivm |
A |
G |
1: 44,182,250 (GRCm39) |
E486G |
possibly damaging |
Het |
| Ccdc168 |
T |
G |
1: 44,098,854 (GRCm39) |
D748A |
probably benign |
Het |
| Ccdc3 |
C |
A |
2: 5,143,090 (GRCm39) |
Q116K |
probably damaging |
Het |
| Cdc42bpb |
G |
A |
12: 111,261,372 (GRCm39) |
P1656S |
probably benign |
Het |
| Cdh6 |
T |
C |
15: 13,034,677 (GRCm39) |
D661G |
probably damaging |
Het |
| Chek1 |
T |
C |
9: 36,624,747 (GRCm39) |
N368S |
probably benign |
Het |
| Dnah11 |
A |
T |
12: 117,878,352 (GRCm39) |
F3924L |
probably damaging |
Het |
| Dusp7 |
T |
C |
9: 106,248,125 (GRCm39) |
I251T |
probably damaging |
Het |
| Dysf |
T |
A |
6: 84,090,650 (GRCm39) |
W988R |
probably damaging |
Het |
| Dzip1l |
T |
C |
9: 99,519,710 (GRCm39) |
V79A |
possibly damaging |
Het |
| Ebf1 |
A |
G |
11: 44,815,393 (GRCm39) |
I344V |
probably benign |
Het |
| Ern2 |
T |
C |
7: 121,776,823 (GRCm39) |
E336G |
probably benign |
Het |
| Fat4 |
T |
C |
3: 39,034,802 (GRCm39) |
L2818P |
probably damaging |
Het |
| Gjb3 |
T |
C |
4: 127,220,131 (GRCm39) |
S134G |
probably damaging |
Het |
| Gm10647 |
T |
C |
9: 66,705,756 (GRCm39) |
F108L |
unknown |
Het |
| Gper1 |
A |
G |
5: 139,412,138 (GRCm39) |
K161R |
probably benign |
Het |
| Grin1 |
A |
G |
2: 25,187,426 (GRCm39) |
M628T |
probably damaging |
Het |
| Gsdmc |
A |
T |
15: 63,649,897 (GRCm39) |
D331E |
probably benign |
Het |
| Haus3 |
C |
A |
5: 34,325,571 (GRCm39) |
W29C |
probably damaging |
Het |
| Il10ra |
T |
C |
9: 45,167,690 (GRCm39) |
E289G |
probably benign |
Het |
| Itpr3 |
G |
A |
17: 27,337,651 (GRCm39) |
|
probably benign |
Het |
| Kcnma1 |
T |
C |
14: 23,361,793 (GRCm39) |
T1133A |
possibly damaging |
Het |
| Ksr1 |
G |
A |
11: 78,924,094 (GRCm39) |
T458M |
possibly damaging |
Het |
| Mc5r |
T |
A |
18: 68,472,565 (GRCm39) |
M308K |
possibly damaging |
Het |
| Mis18a |
T |
C |
16: 90,518,525 (GRCm39) |
S146G |
possibly damaging |
Het |
| Mrpl50 |
G |
A |
4: 49,514,501 (GRCm39) |
R57* |
probably null |
Het |
| Mtfmt |
C |
T |
9: 65,343,147 (GRCm39) |
R18C |
probably benign |
Het |
| Nanos1 |
T |
A |
19: 60,745,413 (GRCm39) |
I237N |
probably damaging |
Het |
| Ncor1 |
TGC |
TGCGGC |
11: 62,324,449 (GRCm39) |
|
probably benign |
Het |
| Ndst3 |
T |
A |
3: 123,400,555 (GRCm39) |
E450D |
probably damaging |
Het |
| Nek10 |
C |
A |
14: 14,828,511 (GRCm38) |
T111K |
probably benign |
Het |
| Nipal2 |
T |
C |
15: 34,584,833 (GRCm39) |
Y245C |
probably damaging |
Het |
| Npat |
T |
A |
9: 53,473,406 (GRCm39) |
D399E |
probably benign |
Het |
| Opa1 |
A |
G |
16: 29,429,738 (GRCm39) |
S378G |
probably damaging |
Het |
| Or5b102 |
T |
C |
19: 13,041,119 (GRCm39) |
S115P |
probably damaging |
Het |
| Peg10 |
T |
TCCG |
6: 4,756,451 (GRCm39) |
|
probably benign |
Het |
| Pex16 |
A |
T |
2: 92,209,559 (GRCm39) |
|
probably null |
Het |
| Plec |
A |
T |
15: 76,058,897 (GRCm39) |
I3680N |
probably damaging |
Het |
| Plin3 |
A |
T |
17: 56,591,225 (GRCm39) |
V185E |
probably damaging |
Het |
| Prex1 |
T |
A |
2: 166,413,481 (GRCm39) |
D1512V |
probably damaging |
Het |
| Ptpn22 |
T |
A |
3: 103,792,913 (GRCm39) |
S355T |
probably benign |
Het |
| Ranbp3l |
A |
G |
15: 9,041,991 (GRCm39) |
|
probably benign |
Het |
| Scn5a |
A |
G |
9: 119,351,611 (GRCm39) |
I790T |
probably benign |
Het |
| Sema6d |
T |
C |
2: 124,499,943 (GRCm39) |
F340L |
probably damaging |
Het |
| Slc22a2 |
A |
G |
17: 12,828,916 (GRCm39) |
T341A |
probably damaging |
Het |
| Slc6a6 |
T |
C |
6: 91,721,921 (GRCm39) |
Y374H |
probably damaging |
Het |
| Slitrk3 |
T |
G |
3: 72,958,272 (GRCm39) |
S167R |
possibly damaging |
Het |
| Smchd1 |
G |
A |
17: 71,750,899 (GRCm39) |
H340Y |
possibly damaging |
Het |
| Sorcs1 |
C |
T |
19: 50,666,521 (GRCm39) |
R129Q |
probably benign |
Het |
| Sox9 |
A |
G |
11: 112,676,001 (GRCm39) |
T397A |
possibly damaging |
Het |
| Tnpo1 |
C |
A |
13: 99,003,621 (GRCm39) |
R245L |
possibly damaging |
Het |
| Traip |
T |
A |
9: 107,838,785 (GRCm39) |
M183K |
probably damaging |
Het |
| Trpc6 |
A |
T |
9: 8,680,419 (GRCm39) |
E882D |
probably benign |
Het |
| Uba6 |
C |
A |
5: 86,288,219 (GRCm39) |
G491V |
probably damaging |
Het |
| Uqcrfs1 |
A |
T |
13: 30,729,037 (GRCm39) |
V65E |
probably benign |
Het |
| Urgcp |
T |
C |
11: 5,668,128 (GRCm39) |
D113G |
probably damaging |
Het |
| Wdr76 |
C |
T |
2: 121,372,976 (GRCm39) |
T503M |
probably damaging |
Het |
| Zfp27 |
T |
C |
7: 29,593,641 (GRCm39) |
T775A |
possibly damaging |
Het |
| Zfp518b |
A |
T |
5: 38,829,395 (GRCm39) |
V870E |
possibly damaging |
Het |
| Zfp932 |
T |
A |
5: 110,155,177 (GRCm39) |
H63Q |
possibly damaging |
Het |
| Zkscan6 |
C |
A |
11: 65,712,817 (GRCm39) |
T250N |
probably damaging |
Het |
| Zmat2 |
A |
T |
18: 36,930,958 (GRCm39) |
K161N |
possibly damaging |
Het |
| Zyg11a |
A |
G |
4: 108,062,420 (GRCm39) |
L127P |
probably damaging |
Het |
|
| Other mutations in Gm19410 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
BB009:Gm19410
|
UTSW |
8 |
36,262,753 (GRCm39) |
missense |
probably damaging |
0.98 |
|
BB019:Gm19410
|
UTSW |
8 |
36,262,753 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0046:Gm19410
|
UTSW |
8 |
36,269,799 (GRCm39) |
missense |
probably benign |
0.31 |
|
R6026:Gm19410
|
UTSW |
8 |
36,279,580 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6039:Gm19410
|
UTSW |
8 |
36,276,518 (GRCm39) |
missense |
probably benign |
0.44 |
|
R6039:Gm19410
|
UTSW |
8 |
36,276,518 (GRCm39) |
missense |
probably benign |
0.44 |
|
R6185:Gm19410
|
UTSW |
8 |
36,274,664 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R6239:Gm19410
|
UTSW |
8 |
36,245,918 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6303:Gm19410
|
UTSW |
8 |
36,274,714 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R6377:Gm19410
|
UTSW |
8 |
36,270,736 (GRCm39) |
nonsense |
probably null |
|
|
R6545:Gm19410
|
UTSW |
8 |
36,257,652 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6700:Gm19410
|
UTSW |
8 |
36,274,664 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R6720:Gm19410
|
UTSW |
8 |
36,274,730 (GRCm39) |
missense |
probably benign |
0.12 |
|
R6795:Gm19410
|
UTSW |
8 |
36,262,676 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6808:Gm19410
|
UTSW |
8 |
36,239,733 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6810:Gm19410
|
UTSW |
8 |
36,239,733 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6811:Gm19410
|
UTSW |
8 |
36,239,733 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6966:Gm19410
|
UTSW |
8 |
36,285,127 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R7264:Gm19410
|
UTSW |
8 |
36,252,920 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7267:Gm19410
|
UTSW |
8 |
36,281,997 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7355:Gm19410
|
UTSW |
8 |
36,274,226 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7423:Gm19410
|
UTSW |
8 |
36,271,761 (GRCm39) |
missense |
probably benign |
0.28 |
|
R7494:Gm19410
|
UTSW |
8 |
36,262,684 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7516:Gm19410
|
UTSW |
8 |
36,263,433 (GRCm39) |
missense |
probably benign |
0.30 |
|
R7517:Gm19410
|
UTSW |
8 |
36,240,772 (GRCm39) |
missense |
possibly damaging |
0.45 |
|
R7526:Gm19410
|
UTSW |
8 |
36,257,766 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7527:Gm19410
|
UTSW |
8 |
36,269,386 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7545:Gm19410
|
UTSW |
8 |
36,269,779 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7549:Gm19410
|
UTSW |
8 |
36,266,500 (GRCm39) |
missense |
probably benign |
0.20 |
|
R7564:Gm19410
|
UTSW |
8 |
36,274,151 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7615:Gm19410
|
UTSW |
8 |
36,263,513 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7622:Gm19410
|
UTSW |
8 |
36,277,501 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7655:Gm19410
|
UTSW |
8 |
36,276,253 (GRCm39) |
missense |
probably benign |
|
|
R7656:Gm19410
|
UTSW |
8 |
36,276,253 (GRCm39) |
missense |
probably benign |
|
|
R7703:Gm19410
|
UTSW |
8 |
36,266,539 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7750:Gm19410
|
UTSW |
8 |
36,274,652 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R7760:Gm19410
|
UTSW |
8 |
36,269,491 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7837:Gm19410
|
UTSW |
8 |
36,276,134 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7932:Gm19410
|
UTSW |
8 |
36,262,753 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7942:Gm19410
|
UTSW |
8 |
36,238,940 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7970:Gm19410
|
UTSW |
8 |
36,282,801 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8088:Gm19410
|
UTSW |
8 |
36,273,995 (GRCm39) |
missense |
probably benign |
0.45 |
|
R8228:Gm19410
|
UTSW |
8 |
36,252,992 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R8382:Gm19410
|
UTSW |
8 |
36,276,302 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8757:Gm19410
|
UTSW |
8 |
36,276,119 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R8879:Gm19410
|
UTSW |
8 |
36,239,022 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9010:Gm19410
|
UTSW |
8 |
36,282,011 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9060:Gm19410
|
UTSW |
8 |
36,269,480 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9088:Gm19410
|
UTSW |
8 |
36,240,766 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9104:Gm19410
|
UTSW |
8 |
36,247,621 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9186:Gm19410
|
UTSW |
8 |
36,282,629 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9290:Gm19410
|
UTSW |
8 |
36,269,386 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9334:Gm19410
|
UTSW |
8 |
36,270,722 (GRCm39) |
nonsense |
probably null |
|
|
R9398:Gm19410
|
UTSW |
8 |
36,272,356 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9439:Gm19410
|
UTSW |
8 |
36,248,810 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9445:Gm19410
|
UTSW |
8 |
36,239,652 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R9520:Gm19410
|
UTSW |
8 |
36,262,637 (GRCm39) |
missense |
probably benign |
0.15 |
|
R9523:Gm19410
|
UTSW |
8 |
36,257,608 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9669:Gm19410
|
UTSW |
8 |
36,247,493 (GRCm39) |
missense |
possibly damaging |
0.45 |
|
R9711:Gm19410
|
UTSW |
8 |
36,279,493 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9728:Gm19410
|
UTSW |
8 |
36,247,594 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9759:Gm19410
|
UTSW |
8 |
36,252,938 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
Z1176:Gm19410
|
UTSW |
8 |
36,259,765 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
Z1177:Gm19410
|
UTSW |
8 |
36,276,119 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCAGAAGACGAGAATGCCTGG -3'
(R):5'- AGTGCCTTGCATTAGCTGTC -3'
Sequencing Primer
(F):5'- AGAATGCCTGGCGCTGAGTC -3'
(R):5'- AATTCAACCCGCGTGTATGTG -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation