Incidental Mutation 'R8879:Gm19410'
ID |
676768 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gm19410
|
Ensembl Gene |
ENSMUSG00000109372 |
Gene Name |
predicted gene, 19410 |
Synonyms |
|
MMRRC Submission |
068747-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.145)
|
Stock # |
R8879 (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 36239022 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 97
(D97V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000147162
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000207505]
|
AlphaFold |
A0A140LJC7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000207505
AA Change: D97V
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
Meta Mutation Damage Score |
0.9672 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
100% (69/69) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9130401M01Rik |
C |
T |
15: 57,885,905 (GRCm39) |
V326M |
probably damaging |
Het |
Adap2 |
T |
A |
11: 80,047,785 (GRCm39) |
H80Q |
probably benign |
Het |
Ang4 |
T |
C |
14: 52,001,943 (GRCm39) |
T2A |
probably benign |
Het |
Arf2 |
T |
C |
11: 103,870,585 (GRCm39) |
|
probably null |
Het |
B3gnt4 |
A |
G |
5: 123,649,211 (GRCm39) |
D192G |
probably damaging |
Het |
BC034090 |
T |
C |
1: 155,102,103 (GRCm39) |
I54V |
probably benign |
Het |
Catsper3 |
A |
G |
13: 55,952,708 (GRCm39) |
T202A |
probably benign |
Het |
Cenpe |
T |
A |
3: 134,965,862 (GRCm39) |
D2113E |
probably damaging |
Het |
Clasp2 |
T |
C |
9: 113,602,773 (GRCm39) |
V191A |
probably benign |
Het |
Col5a1 |
G |
T |
2: 27,904,170 (GRCm39) |
A1356S |
unknown |
Het |
Cuzd1 |
A |
G |
7: 130,910,577 (GRCm39) |
S573P |
probably damaging |
Het |
Cyp1a2 |
C |
A |
9: 57,589,168 (GRCm39) |
M215I |
possibly damaging |
Het |
Dcaf17 |
T |
A |
2: 70,893,746 (GRCm39) |
I122K |
possibly damaging |
Het |
Dhcr24 |
A |
G |
4: 106,431,006 (GRCm39) |
I232V |
probably benign |
Het |
Dnah10 |
A |
G |
5: 124,895,181 (GRCm39) |
E3570G |
probably damaging |
Het |
Dnaja4 |
A |
T |
9: 54,621,988 (GRCm39) |
|
probably benign |
Het |
Efcab3 |
T |
C |
11: 104,581,781 (GRCm39) |
I41T |
probably benign |
Het |
Ehd1 |
A |
G |
19: 6,348,354 (GRCm39) |
D444G |
probably damaging |
Het |
Ehmt1 |
T |
A |
2: 24,726,488 (GRCm39) |
M766L |
possibly damaging |
Het |
Eno4 |
A |
G |
19: 58,959,154 (GRCm39) |
I613M |
probably benign |
Het |
Exoc3l |
A |
T |
8: 106,017,181 (GRCm39) |
M602K |
|
Het |
Fam107a |
C |
T |
14: 8,301,352 (GRCm38) |
|
probably null |
Het |
Frem3 |
A |
T |
8: 81,339,777 (GRCm39) |
D690V |
probably damaging |
Het |
Grik5 |
T |
A |
7: 24,722,489 (GRCm39) |
D540V |
possibly damaging |
Het |
Hint1 |
T |
A |
11: 54,760,769 (GRCm39) |
D69E |
probably benign |
Het |
Krt13 |
T |
C |
11: 100,010,211 (GRCm39) |
T257A |
probably benign |
Het |
Lpin2 |
T |
C |
17: 71,549,749 (GRCm39) |
L676P |
probably damaging |
Het |
Lrguk |
A |
G |
6: 34,006,618 (GRCm39) |
E76G |
probably benign |
Het |
Lrrc8a |
A |
G |
2: 30,146,310 (GRCm39) |
M375V |
probably benign |
Het |
Lrrtm3 |
T |
C |
10: 63,925,017 (GRCm39) |
Q50R |
possibly damaging |
Het |
Mmrn1 |
T |
A |
6: 60,953,513 (GRCm39) |
L598Q |
probably damaging |
Het |
Mrs2 |
A |
G |
13: 25,185,767 (GRCm39) |
I135T |
probably damaging |
Het |
Neb |
T |
C |
2: 52,125,592 (GRCm39) |
D475G |
|
Het |
Notch2 |
A |
G |
3: 98,042,915 (GRCm39) |
S1427G |
possibly damaging |
Het |
Odad4 |
G |
T |
11: 100,457,752 (GRCm39) |
E452* |
probably null |
Het |
Opcml |
T |
C |
9: 28,813,447 (GRCm39) |
F246S |
probably damaging |
Het |
Or10al2 |
C |
A |
17: 37,983,302 (GRCm39) |
Y129* |
probably null |
Het |
Or2ag1b |
A |
T |
7: 106,288,296 (GRCm39) |
I214N |
probably damaging |
Het |
Or56a42-ps1 |
A |
G |
7: 104,775,893 (GRCm39) |
V195A |
probably benign |
Het |
Or6c69 |
A |
G |
10: 129,747,731 (GRCm39) |
C139R |
probably damaging |
Het |
Or8g33 |
A |
C |
9: 39,337,515 (GRCm39) |
V284G |
possibly damaging |
Het |
Pdzd2 |
C |
A |
15: 12,402,405 (GRCm39) |
V729F |
probably damaging |
Het |
Pias2 |
C |
T |
18: 77,234,464 (GRCm39) |
Q565* |
probably null |
Het |
Pnp |
T |
A |
14: 51,188,177 (GRCm39) |
|
probably null |
Het |
Ptpn18 |
T |
C |
1: 34,502,211 (GRCm39) |
S76P |
probably benign |
Het |
Qtrt2 |
A |
T |
16: 43,683,560 (GRCm39) |
L304Q |
probably damaging |
Het |
Rad51ap2 |
A |
T |
12: 11,507,401 (GRCm39) |
E441V |
possibly damaging |
Het |
Ranbp2 |
T |
A |
10: 58,313,711 (GRCm39) |
V1477E |
probably benign |
Het |
Repin1 |
C |
T |
6: 48,574,367 (GRCm39) |
T432I |
possibly damaging |
Het |
Rest |
G |
A |
5: 77,430,358 (GRCm39) |
G926R |
probably benign |
Het |
Rnft1 |
T |
A |
11: 86,377,516 (GRCm39) |
F143L |
possibly damaging |
Het |
Sema3e |
A |
T |
5: 14,282,108 (GRCm39) |
I415L |
probably benign |
Het |
Slc10a1 |
T |
A |
12: 81,014,369 (GRCm39) |
N117I |
probably damaging |
Het |
Slc25a23 |
G |
A |
17: 57,366,709 (GRCm39) |
|
probably benign |
Het |
Slc2a2 |
T |
C |
3: 28,767,951 (GRCm39) |
S160P |
possibly damaging |
Het |
Srrd |
A |
G |
5: 112,486,322 (GRCm39) |
V178A |
possibly damaging |
Het |
Tmigd3 |
G |
T |
3: 105,829,277 (GRCm39) |
G198C |
probably benign |
Het |
Trbv28 |
G |
A |
6: 41,248,339 (GRCm39) |
M1I |
probably null |
Het |
Tril |
A |
G |
6: 53,796,569 (GRCm39) |
S218P |
probably damaging |
Het |
Trip11 |
T |
C |
12: 101,828,857 (GRCm39) |
K1749R |
probably benign |
Het |
Ttn |
A |
G |
2: 76,660,995 (GRCm39) |
V12011A |
|
Het |
Ubr4 |
T |
G |
4: 139,137,829 (GRCm39) |
F1093V |
probably benign |
Het |
Urb2 |
C |
A |
8: 124,755,142 (GRCm39) |
A283E |
probably benign |
Het |
Usp43 |
T |
A |
11: 67,789,707 (GRCm39) |
|
probably benign |
Het |
Vmn1r28 |
A |
T |
6: 58,242,669 (GRCm39) |
I171F |
probably benign |
Het |
Vps33a |
G |
A |
5: 123,671,962 (GRCm39) |
R469W |
probably damaging |
Het |
Zfp202 |
G |
A |
9: 40,123,053 (GRCm39) |
R605Q |
probably damaging |
Het |
Zpbp2 |
A |
T |
11: 98,445,446 (GRCm39) |
H158L |
probably benign |
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 |
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 |
R9511:Gm19410
|
UTSW |
8 |
36,257,848 (GRCm39) |
missense |
probably damaging |
0.99 |
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'- TCCAGTCAACTGATGATCTCTG -3'
(R):5'- TACAAGCTGTGGGTGAGCAG -3'
Sequencing Primer
(F):5'- GTCAACTGATGATCTCTGACAAGCTC -3'
(R):5'- AGTAATGGCCCCTGTCCCTAAG -3'
|
Posted On |
2021-07-15 |