Incidental Mutation 'R7760:Gm19410'
ID |
597796 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gm19410
|
Ensembl Gene |
ENSMUSG00000109372 |
Gene Name |
predicted gene, 19410 |
Synonyms |
|
MMRRC Submission |
045816-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.145)
|
Stock # |
R7760 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
36232944-36285201 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 36269491 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 1109
(C1109S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000147162
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000207505]
|
AlphaFold |
A0A140LJC7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000207505
AA Change: C1109S
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
Meta Mutation Damage Score |
0.9461 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
Validation Efficiency |
100% (55/55) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Anxa11 |
C |
T |
14: 25,873,251 (GRCm39) |
Q162* |
probably null |
Het |
Arg1 |
T |
G |
10: 24,803,361 (GRCm39) |
|
probably benign |
Het |
Arl6 |
T |
C |
16: 59,439,169 (GRCm39) |
D175G |
probably damaging |
Het |
Capg |
A |
G |
6: 72,534,769 (GRCm39) |
R199G |
probably damaging |
Het |
Ceacam1 |
T |
A |
7: 25,171,450 (GRCm39) |
E338V |
probably damaging |
Het |
Clec4d |
A |
G |
6: 123,247,300 (GRCm39) |
N148D |
probably benign |
Het |
Ctr9 |
T |
G |
7: 110,645,808 (GRCm39) |
I653R |
probably damaging |
Het |
Dmwd |
C |
T |
7: 18,814,660 (GRCm39) |
L437F |
probably damaging |
Het |
Dnah7b |
T |
A |
1: 46,240,413 (GRCm39) |
L1510Q |
probably damaging |
Het |
Efcab5 |
T |
A |
11: 77,042,752 (GRCm39) |
E136D |
probably benign |
Het |
Elfn2 |
C |
T |
15: 78,558,041 (GRCm39) |
A169T |
probably benign |
Het |
Elp1 |
A |
G |
4: 56,790,892 (GRCm39) |
V287A |
probably benign |
Het |
Esrp2 |
T |
A |
8: 106,860,102 (GRCm39) |
E326D |
probably benign |
Het |
Fbrs |
T |
C |
7: 127,088,572 (GRCm39) |
V718A |
probably damaging |
Het |
Fbxl21 |
C |
T |
13: 56,684,816 (GRCm39) |
R307C |
probably benign |
Het |
Fbxl21 |
T |
C |
13: 56,674,747 (GRCm39) |
S33P |
probably benign |
Het |
Gatad2b |
C |
T |
3: 90,261,776 (GRCm39) |
R461W |
probably damaging |
Het |
Gm6882 |
T |
A |
7: 21,161,409 (GRCm39) |
D153V |
probably damaging |
Het |
Golga3 |
A |
G |
5: 110,353,716 (GRCm39) |
E918G |
probably benign |
Het |
Greb1 |
T |
C |
12: 16,773,417 (GRCm39) |
N219S |
probably benign |
Het |
Grpel1 |
G |
T |
5: 36,627,986 (GRCm39) |
R89L |
probably damaging |
Het |
Ighv5-12 |
T |
A |
12: 113,665,795 (GRCm39) |
Q101L |
probably benign |
Het |
Ldb3 |
T |
A |
14: 34,264,460 (GRCm39) |
N590I |
probably damaging |
Het |
Man2c1 |
T |
C |
9: 57,046,647 (GRCm39) |
V636A |
probably benign |
Het |
Mblac2 |
G |
T |
13: 81,859,996 (GRCm39) |
V117L |
probably benign |
Het |
Muc6 |
T |
A |
7: 141,237,322 (GRCm39) |
|
probably null |
Het |
Nfatc3 |
A |
G |
8: 106,834,973 (GRCm39) |
E773G |
possibly damaging |
Het |
Ngef |
T |
C |
1: 87,468,495 (GRCm39) |
D88G |
probably benign |
Het |
Nipbl |
T |
C |
15: 8,388,186 (GRCm39) |
E478G |
probably damaging |
Het |
Or2t6 |
T |
C |
14: 14,175,905 (GRCm38) |
Y59C |
probably damaging |
Het |
Pbx4 |
C |
A |
8: 70,285,445 (GRCm39) |
D29E |
probably benign |
Het |
Pcdhgb5 |
A |
G |
18: 37,864,690 (GRCm39) |
I162V |
not run |
Het |
Pdcd11 |
G |
A |
19: 47,101,637 (GRCm39) |
V941M |
possibly damaging |
Het |
Pigr |
A |
T |
1: 130,774,368 (GRCm39) |
R449S |
possibly damaging |
Het |
Plcb2 |
T |
C |
2: 118,541,869 (GRCm39) |
T914A |
probably benign |
Het |
Ppp5c |
A |
G |
7: 16,740,274 (GRCm39) |
S387P |
probably damaging |
Het |
Rnf7l |
T |
C |
10: 63,257,316 (GRCm39) |
K68R |
probably damaging |
Het |
Rtkn2 |
T |
G |
10: 67,841,439 (GRCm39) |
S196A |
probably damaging |
Het |
Sec31a |
A |
G |
5: 100,540,487 (GRCm39) |
F400L |
probably damaging |
Het |
Senp7 |
A |
T |
16: 55,959,442 (GRCm39) |
M251L |
probably benign |
Het |
Slc6a5 |
T |
C |
7: 49,596,365 (GRCm39) |
F612L |
probably benign |
Het |
Slc7a9 |
T |
C |
7: 35,156,500 (GRCm39) |
I314T |
possibly damaging |
Het |
Smc5 |
A |
C |
19: 23,213,254 (GRCm39) |
S553A |
probably benign |
Het |
Spaca3 |
T |
A |
11: 80,755,389 (GRCm39) |
V133D |
probably damaging |
Het |
Taco1 |
T |
A |
11: 105,963,938 (GRCm39) |
D232E |
possibly damaging |
Het |
Tarbp1 |
C |
T |
8: 127,179,546 (GRCm39) |
R664H |
not run |
Het |
Tlk2 |
T |
C |
11: 105,169,993 (GRCm39) |
I674T |
probably damaging |
Het |
Tnxb |
A |
T |
17: 34,931,911 (GRCm39) |
E2148V |
probably damaging |
Het |
Tom1l2 |
T |
C |
11: 60,165,791 (GRCm39) |
S59G |
probably benign |
Het |
Traj46 |
A |
T |
14: 54,409,813 (GRCm39) |
H7L |
|
Het |
Traj46 |
T |
G |
14: 54,409,814 (GRCm39) |
H7Q |
|
Het |
Trav6-4 |
T |
A |
14: 53,692,103 (GRCm39) |
L70Q |
possibly damaging |
Het |
Trmt1l |
C |
T |
1: 151,318,425 (GRCm39) |
T245I |
possibly damaging |
Het |
Wac |
T |
A |
18: 7,921,913 (GRCm39) |
C601S |
probably benign |
Het |
Wnt3 |
T |
A |
11: 103,702,266 (GRCm39) |
H145Q |
probably benign |
Het |
Zfp948 |
T |
C |
17: 21,808,628 (GRCm39) |
C607R |
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 |
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 |
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'- TTAGATGGATCGGAGGCCACTG -3'
(R):5'- CACACTGGAACTCGGAATCCTG -3'
Sequencing Primer
(F):5'- GAGGCCACTGACTGTCCCTATC -3'
(R):5'- GAACTCGGAATCCTGGCACTTC -3'
|
Posted On |
2019-11-26 |