Incidental Mutation 'R6039:Gm19410'
| ID |
486746 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm19410
|
| Ensembl Gene |
ENSMUSG00000109372 |
| Gene Name |
predicted gene, 19410 |
| Synonyms |
|
| MMRRC Submission |
043259-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.145)
|
| Stock # |
R6039 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
36232944-36285201 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to G
at 36276518 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Glycine
at position 1725
(A1725G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147162
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000207505]
|
| AlphaFold |
A0A140LJC7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207505
AA Change: A1725G
PolyPhen 2
Score 0.439 (Sensitivity: 0.89; Specificity: 0.90)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts9 |
C |
T |
6: 92,885,527 (GRCm39) |
R416Q |
possibly damaging |
Het |
| Adgre1 |
C |
A |
17: 57,713,859 (GRCm39) |
D181E |
probably benign |
Het |
| Arhgap24 |
T |
C |
5: 103,028,652 (GRCm39) |
S183P |
probably damaging |
Het |
| Asb1 |
T |
C |
1: 91,474,748 (GRCm39) |
L90P |
probably damaging |
Het |
| Bmp3 |
T |
C |
5: 99,020,209 (GRCm39) |
F211L |
probably benign |
Het |
| C8a |
A |
G |
4: 104,703,139 (GRCm39) |
I306T |
probably benign |
Het |
| Cdkn3 |
G |
A |
14: 47,007,373 (GRCm39) |
G177R |
probably damaging |
Het |
| Chat |
A |
G |
14: 32,170,984 (GRCm39) |
S172P |
probably damaging |
Het |
| Chd5 |
CAAGAAGAAGAAGAAGAA |
CAAGAAGAAGAAGAA |
4: 152,438,078 (GRCm39) |
|
probably benign |
Het |
| Cyp4a12a |
T |
C |
4: 115,184,420 (GRCm39) |
I265T |
probably damaging |
Het |
| Dlst |
T |
A |
12: 85,165,664 (GRCm39) |
|
probably null |
Het |
| Dnmt1 |
A |
T |
9: 20,837,716 (GRCm39) |
|
probably benign |
Het |
| Fbn1 |
C |
T |
2: 125,205,800 (GRCm39) |
E1066K |
probably damaging |
Het |
| Fetub |
C |
T |
16: 22,751,081 (GRCm39) |
R143C |
probably damaging |
Het |
| Fstl1 |
T |
A |
16: 37,641,538 (GRCm39) |
S105T |
probably benign |
Het |
| Hspb7 |
A |
G |
4: 141,151,215 (GRCm39) |
N119S |
probably damaging |
Het |
| Il20 |
T |
A |
1: 130,838,478 (GRCm39) |
D73V |
possibly damaging |
Het |
| Insrr |
T |
C |
3: 87,716,608 (GRCm39) |
I612T |
possibly damaging |
Het |
| Kcnma1 |
T |
C |
14: 23,359,105 (GRCm39) |
Y1107C |
probably benign |
Het |
| Klhl32 |
A |
G |
4: 24,792,615 (GRCm39) |
|
probably null |
Het |
| Krt77 |
C |
A |
15: 101,769,351 (GRCm39) |
R470L |
possibly damaging |
Het |
| Muc1 |
T |
C |
3: 89,139,336 (GRCm39) |
Y579H |
probably damaging |
Het |
| Myof |
T |
C |
19: 37,966,132 (GRCm39) |
D396G |
probably damaging |
Het |
| Myom1 |
T |
G |
17: 71,417,746 (GRCm39) |
D1316E |
probably damaging |
Het |
| Nbea |
T |
C |
3: 55,912,538 (GRCm39) |
E1083G |
probably benign |
Het |
| Nek9 |
G |
A |
12: 85,359,859 (GRCm39) |
A531V |
probably benign |
Het |
| Nlrp12 |
A |
T |
7: 3,290,002 (GRCm39) |
I170N |
possibly damaging |
Het |
| Nup98 |
A |
G |
7: 101,784,002 (GRCm39) |
I1093T |
probably benign |
Het |
| Ovch2 |
G |
A |
7: 107,388,318 (GRCm39) |
L421F |
probably damaging |
Het |
| Paqr4 |
T |
C |
17: 23,958,968 (GRCm39) |
D11G |
probably damaging |
Het |
| Parp8 |
A |
G |
13: 117,014,134 (GRCm39) |
S561P |
probably damaging |
Het |
| Pcgf5 |
T |
A |
19: 36,420,306 (GRCm39) |
F179L |
probably damaging |
Het |
| Pde4d |
A |
T |
13: 110,084,876 (GRCm39) |
Q422L |
probably damaging |
Het |
| Pigs |
T |
A |
11: 78,232,651 (GRCm39) |
V495E |
probably damaging |
Het |
| Polh |
C |
T |
17: 46,498,959 (GRCm39) |
R252H |
probably benign |
Het |
| Psg28 |
T |
C |
7: 18,160,107 (GRCm39) |
D363G |
possibly damaging |
Het |
| Ptgir |
A |
T |
7: 16,640,815 (GRCm39) |
I36F |
possibly damaging |
Het |
| Ptprr |
G |
A |
10: 116,072,668 (GRCm39) |
|
probably null |
Het |
| Rax |
C |
T |
18: 66,068,418 (GRCm39) |
G229D |
unknown |
Het |
| Secisbp2l |
T |
A |
2: 125,615,136 (GRCm39) |
H163L |
probably benign |
Het |
| Sf3a2 |
A |
G |
10: 80,637,297 (GRCm39) |
Y45C |
probably damaging |
Het |
| Sgo2a |
C |
T |
1: 58,055,775 (GRCm39) |
T653I |
possibly damaging |
Het |
| Slc38a9 |
A |
T |
13: 112,806,231 (GRCm39) |
I26F |
probably damaging |
Het |
| Slc5a8 |
A |
G |
10: 88,722,436 (GRCm39) |
I90V |
probably benign |
Het |
| Slx4 |
G |
A |
16: 3,803,911 (GRCm39) |
H968Y |
possibly damaging |
Het |
| Stam2 |
T |
C |
2: 52,599,611 (GRCm39) |
T233A |
probably benign |
Het |
| Tln1 |
G |
C |
4: 43,555,052 (GRCm39) |
F259L |
probably damaging |
Het |
| Trav4-2 |
G |
A |
14: 53,655,866 (GRCm39) |
V8M |
possibly damaging |
Het |
| Ttll5 |
T |
A |
12: 85,878,729 (GRCm39) |
H45Q |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,714,762 (GRCm39) |
|
probably benign |
Het |
| Ush2a |
T |
A |
1: 188,051,217 (GRCm39) |
F234L |
possibly damaging |
Het |
| Vmn2r74 |
T |
A |
7: 85,607,526 (GRCm39) |
|
probably null |
Het |
| Wdr6 |
CTG |
C |
9: 108,450,994 (GRCm39) |
|
probably null |
Het |
| Zfp644 |
A |
G |
5: 106,783,291 (GRCm39) |
S997P |
possibly damaging |
Het |
| Zfp853 |
G |
A |
5: 143,274,529 (GRCm39) |
Q364* |
probably null |
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 |
|
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 |
|
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'- CAGTGAAAACCTTTACCGCC -3'
(R):5'- CACATGACTCTGTGGGTTATACTG -3'
Sequencing Primer
(F):5'- GTGAAAACCTTTACCGCCCAACTTC -3'
(R):5'- ACTGTACTACTTAGGGATGCATC -3'
|
| Posted On |
2017-08-16 |
Incidental Mutation