Incidental Mutation 'R7942:Gm19410'
ID |
649109 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gm19410
|
Ensembl Gene |
ENSMUSG00000109372 |
Gene Name |
predicted gene, 19410 |
Synonyms |
|
MMRRC Submission |
045988-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.163)
|
Stock # |
R7942 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
36232944-36285201 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 36238940 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Arginine
at position 70
(G70R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000147162
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000207505]
|
AlphaFold |
A0A140LJC7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000207505
AA Change: G70R
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
100% (51/51) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcg3 |
A |
G |
5: 105,087,027 (GRCm39) |
I565T |
probably damaging |
Het |
Adamts8 |
G |
A |
9: 30,864,778 (GRCm39) |
C423Y |
probably damaging |
Het |
Adamts8 |
G |
A |
9: 30,870,209 (GRCm39) |
|
probably null |
Het |
Ahctf1 |
A |
C |
1: 179,613,660 (GRCm39) |
V490G |
possibly damaging |
Het |
Akap13 |
A |
G |
7: 75,261,218 (GRCm39) |
T478A |
possibly damaging |
Het |
Ampd2 |
C |
A |
3: 107,987,432 (GRCm39) |
V134L |
probably benign |
Het |
Ano9 |
T |
C |
7: 140,683,989 (GRCm39) |
S559G |
probably damaging |
Het |
Aox1 |
A |
G |
1: 58,376,590 (GRCm39) |
T924A |
probably damaging |
Het |
Atp13a1 |
A |
G |
8: 70,259,870 (GRCm39) |
E1126G |
probably damaging |
Het |
Bcan |
A |
G |
3: 87,900,382 (GRCm39) |
V617A |
probably benign |
Het |
Cfap57 |
C |
T |
4: 118,472,128 (GRCm39) |
V84I |
probably benign |
Het |
Cldnd1 |
A |
T |
16: 58,550,078 (GRCm39) |
N87I |
possibly damaging |
Het |
Enpp2 |
A |
T |
15: 54,709,275 (GRCm39) |
V784E |
probably damaging |
Het |
Eps8 |
T |
A |
6: 137,507,575 (GRCm39) |
Y51F |
possibly damaging |
Het |
Fam184b |
T |
C |
5: 45,741,595 (GRCm39) |
K212R |
probably benign |
Het |
Fbn1 |
A |
C |
2: 125,254,706 (GRCm39) |
C186G |
possibly damaging |
Het |
Fsip1 |
G |
A |
2: 117,967,092 (GRCm39) |
T411I |
probably benign |
Het |
Glyr1 |
T |
C |
16: 4,836,785 (GRCm39) |
T460A |
probably benign |
Het |
Gna15 |
G |
A |
10: 81,359,745 (GRCm39) |
T15I |
probably damaging |
Het |
Heg1 |
T |
C |
16: 33,571,570 (GRCm39) |
C1198R |
probably damaging |
Het |
Hoxd1 |
A |
G |
2: 74,594,504 (GRCm39) |
Y253C |
probably damaging |
Het |
Il17re |
G |
T |
6: 113,443,111 (GRCm39) |
Q316H |
probably damaging |
Het |
Jakmip1 |
C |
A |
5: 37,331,182 (GRCm39) |
P621T |
probably benign |
Het |
Krt71 |
T |
C |
15: 101,643,894 (GRCm39) |
Y448C |
probably damaging |
Het |
Lgals8 |
A |
G |
13: 12,468,137 (GRCm39) |
|
probably null |
Het |
Marchf11 |
A |
G |
15: 26,409,505 (GRCm39) |
*401W |
probably null |
Het |
Mctp1 |
A |
T |
13: 76,789,829 (GRCm39) |
|
probably null |
Het |
Mms19 |
C |
A |
19: 41,944,400 (GRCm39) |
V310F |
probably damaging |
Het |
Mycbp2 |
A |
T |
14: 103,392,674 (GRCm39) |
F3296I |
probably damaging |
Het |
Myo7b |
A |
T |
18: 32,146,422 (GRCm39) |
I121N |
probably damaging |
Het |
Nr0b2 |
T |
C |
4: 133,280,847 (GRCm39) |
S38P |
probably benign |
Het |
Nudt16l1 |
T |
A |
16: 4,757,243 (GRCm39) |
M52K |
probably benign |
Het |
Or3a4 |
A |
G |
11: 73,945,054 (GRCm39) |
I177T |
probably damaging |
Het |
Or8k32 |
T |
C |
2: 86,368,566 (GRCm39) |
N229S |
probably benign |
Het |
Polr3gl |
A |
T |
3: 96,489,552 (GRCm39) |
|
probably null |
Het |
Ptch2 |
T |
A |
4: 116,963,198 (GRCm39) |
F228L |
probably benign |
Het |
Slc35d1 |
A |
G |
4: 103,070,360 (GRCm39) |
|
probably null |
Het |
Slc41a1 |
G |
A |
1: 131,768,635 (GRCm39) |
V198I |
probably damaging |
Het |
Slc5a7 |
T |
C |
17: 54,583,709 (GRCm39) |
D527G |
possibly damaging |
Het |
Spaca7b |
A |
G |
8: 11,705,615 (GRCm39) |
I164T |
unknown |
Het |
Spag16 |
G |
T |
1: 69,866,247 (GRCm39) |
A29S |
probably benign |
Het |
Speer4f2 |
T |
A |
5: 17,582,630 (GRCm39) |
D284E |
unknown |
Het |
Sspo |
A |
G |
6: 48,465,434 (GRCm39) |
|
probably null |
Het |
Tdpoz1 |
T |
C |
3: 93,578,517 (GRCm39) |
K89R |
possibly damaging |
Het |
Tek |
C |
T |
4: 94,740,111 (GRCm39) |
|
probably null |
Het |
Tet3 |
C |
T |
6: 83,353,956 (GRCm39) |
V902M |
probably damaging |
Het |
Tpcn2 |
C |
T |
7: 144,810,928 (GRCm39) |
V590M |
probably damaging |
Het |
Trcg1 |
T |
C |
9: 57,149,499 (GRCm39) |
V357A |
probably benign |
Het |
Tspan18 |
A |
G |
2: 93,041,203 (GRCm39) |
V133A |
probably benign |
Het |
Unc5b |
A |
T |
10: 60,613,322 (GRCm39) |
W305R |
probably damaging |
Het |
Vmn2r95 |
T |
A |
17: 18,660,529 (GRCm39) |
L314I |
possibly damaging |
Het |
Wdsub1 |
G |
A |
2: 59,707,061 (GRCm39) |
A178V |
probably damaging |
Het |
Zfp407 |
A |
G |
18: 84,577,754 (GRCm39) |
S1120P |
probably benign |
Het |
Zfp57 |
T |
C |
17: 37,320,566 (GRCm39) |
F140S |
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 |
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'- ACCAGCAAGTTCAGGGTTG -3'
(R):5'- GCTGATACAAGCTGTGGGTG -3'
Sequencing Primer
(F):5'- CAGGGTTGTGATCAGTGTCAAAC -3'
(R):5'- AAGCCTGCTGACATGAGTTC -3'
|
Posted On |
2020-09-15 |