Incidental Mutation 'R6810:Gm19410'
ID |
533761 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gm19410
|
Ensembl Gene |
ENSMUSG00000109372 |
Gene Name |
predicted gene, 19410 |
Synonyms |
|
MMRRC Submission |
044923-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.145)
|
Stock # |
R6810 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
36232944-36285201 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 36239733 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Glutamic Acid
at position 143
(A143E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000147162
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000207505]
|
AlphaFold |
A0A140LJC7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000207505
AA Change: A143E
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 98.8%
- 20x: 96.7%
|
Validation Efficiency |
96% (53/55) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrg5 |
A |
T |
8: 95,660,570 (GRCm39) |
T70S |
probably damaging |
Het |
Adora1 |
T |
C |
1: 134,161,777 (GRCm39) |
Y106C |
probably damaging |
Het |
Aox3 |
T |
A |
1: 58,180,590 (GRCm39) |
N250K |
probably benign |
Het |
Ap2b1 |
A |
T |
11: 83,226,317 (GRCm39) |
Y238F |
possibly damaging |
Het |
Birc6 |
G |
A |
17: 74,919,215 (GRCm39) |
S2015N |
possibly damaging |
Het |
C7 |
A |
G |
15: 5,037,136 (GRCm39) |
F581L |
probably damaging |
Het |
Cd27 |
A |
T |
6: 125,210,627 (GRCm39) |
H203Q |
probably damaging |
Het |
Cdk2 |
A |
G |
10: 128,535,456 (GRCm39) |
V274A |
probably benign |
Het |
Cenpe |
A |
G |
3: 134,949,583 (GRCm39) |
T1351A |
probably benign |
Het |
Chd7 |
T |
C |
4: 8,839,523 (GRCm39) |
L1353P |
probably damaging |
Het |
Dcc |
C |
T |
18: 71,503,764 (GRCm39) |
V945M |
probably damaging |
Het |
Dio1 |
A |
G |
4: 107,154,922 (GRCm39) |
V118A |
probably damaging |
Het |
Dst |
C |
T |
1: 34,251,379 (GRCm39) |
T1818M |
probably damaging |
Het |
Dthd1 |
T |
A |
5: 62,971,672 (GRCm39) |
M165K |
probably benign |
Het |
Eif5b |
A |
G |
1: 38,085,741 (GRCm39) |
I929V |
probably benign |
Het |
F5 |
T |
A |
1: 164,014,471 (GRCm39) |
S581T |
probably damaging |
Het |
Fanca |
A |
C |
8: 124,013,216 (GRCm39) |
I761S |
probably damaging |
Het |
Fat2 |
T |
C |
11: 55,173,067 (GRCm39) |
T2549A |
possibly damaging |
Het |
Fut2 |
A |
G |
7: 45,299,929 (GRCm39) |
L281P |
probably damaging |
Het |
Gm5431 |
T |
C |
11: 48,779,803 (GRCm39) |
D651G |
probably damaging |
Het |
Hook3 |
A |
C |
8: 26,522,450 (GRCm39) |
|
probably null |
Het |
Ivd |
G |
T |
2: 118,700,242 (GRCm39) |
V90L |
probably benign |
Het |
Klhdc7b |
A |
G |
15: 89,272,559 (GRCm39) |
Y1147C |
possibly damaging |
Het |
Mlh1 |
G |
A |
9: 111,070,626 (GRCm39) |
T363M |
possibly damaging |
Het |
Ndufa3 |
A |
T |
7: 3,622,476 (GRCm39) |
I45F |
probably damaging |
Het |
Nell2 |
T |
C |
15: 95,139,468 (GRCm39) |
D588G |
probably damaging |
Het |
Nhlrc3 |
T |
C |
3: 53,360,996 (GRCm39) |
N253S |
probably benign |
Het |
Nlrp4c |
T |
A |
7: 6,069,754 (GRCm39) |
F552I |
probably damaging |
Het |
Or51g1 |
A |
C |
7: 102,634,042 (GRCm39) |
S110A |
probably damaging |
Het |
Or5j3 |
G |
A |
2: 86,128,267 (GRCm39) |
A36T |
probably benign |
Het |
Pcdhga12 |
T |
C |
18: 37,900,232 (GRCm39) |
S355P |
probably benign |
Het |
Pcdhga7 |
A |
T |
18: 37,848,926 (GRCm39) |
Y311F |
probably benign |
Het |
Phldb2 |
A |
G |
16: 45,569,088 (GRCm39) |
|
probably null |
Het |
Plscr4 |
G |
A |
9: 92,365,889 (GRCm39) |
V120I |
probably damaging |
Het |
Plxna4 |
A |
G |
6: 32,287,457 (GRCm39) |
V480A |
probably benign |
Het |
Psrc1 |
A |
T |
3: 108,292,664 (GRCm39) |
K152N |
possibly damaging |
Het |
Ptcd3 |
A |
C |
6: 71,862,516 (GRCm39) |
V473G |
probably damaging |
Het |
Rab11fip1 |
ACTCT |
ACT |
8: 27,642,760 (GRCm39) |
|
probably null |
Het |
Semp2l2b |
C |
T |
10: 21,942,616 (GRCm39) |
G455R |
probably damaging |
Het |
Skint6 |
T |
C |
4: 112,805,577 (GRCm39) |
|
probably null |
Het |
Slc24a1 |
A |
G |
9: 64,855,605 (GRCm39) |
V434A |
probably benign |
Het |
Snd1 |
T |
A |
6: 28,668,609 (GRCm39) |
V432E |
probably benign |
Het |
Syne2 |
C |
T |
12: 75,989,659 (GRCm39) |
T1847M |
probably benign |
Het |
Tenm4 |
G |
A |
7: 96,202,703 (GRCm39) |
R106H |
probably benign |
Het |
Tes |
C |
A |
6: 17,104,651 (GRCm39) |
N377K |
probably benign |
Het |
Tfip11 |
T |
A |
5: 112,481,463 (GRCm39) |
I452N |
probably benign |
Het |
Tgfbi |
T |
C |
13: 56,785,016 (GRCm39) |
S658P |
probably benign |
Het |
Tmx4 |
A |
C |
2: 134,462,594 (GRCm39) |
D112E |
probably damaging |
Het |
Tnn |
G |
T |
1: 159,932,412 (GRCm39) |
D1367E |
probably damaging |
Het |
Triobp |
A |
G |
15: 78,850,815 (GRCm39) |
N323S |
possibly damaging |
Het |
Usp40 |
T |
C |
1: 87,908,755 (GRCm39) |
D582G |
probably benign |
Het |
Vmn2r99 |
A |
G |
17: 19,600,296 (GRCm39) |
K440R |
probably benign |
Het |
Zfp707 |
T |
A |
15: 75,846,748 (GRCm39) |
L193Q |
probably damaging |
Het |
Zfp748 |
T |
C |
13: 67,689,844 (GRCm39) |
Y472C |
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 |
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 |
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'- GGCCCATCATAATCCAGCAG -3'
(R):5'- CCTCTTCTTTGAGAAAGGATGGC -3'
Sequencing Primer
(F):5'- GCCCATCATAATCCAGCAGTTCTC -3'
(R):5'- TAAAGCAGCCTGTGTACTATACCCTG -3'
|
Posted On |
2018-09-12 |