Incidental Mutation 'R6239:Gm19410'
| ID |
505122 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm19410
|
| Ensembl Gene |
ENSMUSG00000109372 |
| Gene Name |
predicted gene, 19410 |
| Synonyms |
|
| MMRRC Submission |
044363-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.145)
|
| Stock # |
R6239 (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 36245918 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 354
(D354V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147162
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000207505]
|
| AlphaFold |
A0A140LJC7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000207505
AA Change: D354V
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.3%
|
| Validation Efficiency |
100% (62/62) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl3 |
T |
A |
1: 78,674,182 (GRCm39) |
S373T |
probably benign |
Het |
| Aox1 |
G |
A |
1: 58,344,550 (GRCm39) |
|
probably null |
Het |
| Apol7c |
T |
C |
15: 77,410,631 (GRCm39) |
E105G |
probably benign |
Het |
| B4galnt2 |
C |
T |
11: 95,767,065 (GRCm39) |
A184T |
probably damaging |
Het |
| Castor1 |
A |
G |
11: 4,168,967 (GRCm39) |
T45A |
possibly damaging |
Het |
| Casz1 |
A |
G |
4: 149,022,734 (GRCm39) |
Q600R |
probably damaging |
Het |
| Cep152 |
A |
T |
2: 125,421,332 (GRCm39) |
S1133T |
probably benign |
Het |
| Cep295 |
T |
C |
9: 15,233,927 (GRCm39) |
I2290V |
possibly damaging |
Het |
| Clmn |
A |
T |
12: 104,747,104 (GRCm39) |
H814Q |
probably benign |
Het |
| Creb3l1 |
A |
G |
2: 91,825,748 (GRCm39) |
C124R |
probably damaging |
Het |
| Cspg4 |
A |
G |
9: 56,795,466 (GRCm39) |
D1067G |
probably benign |
Het |
| Cyp1a1 |
T |
A |
9: 57,609,361 (GRCm39) |
V354E |
probably benign |
Het |
| Cyp2t4 |
A |
T |
7: 26,856,900 (GRCm39) |
Q280L |
possibly damaging |
Het |
| Dcaf6 |
A |
T |
1: 165,178,839 (GRCm39) |
D563E |
possibly damaging |
Het |
| Dennd2a |
A |
G |
6: 39,465,750 (GRCm39) |
F607L |
probably damaging |
Het |
| Dennd2d |
T |
A |
3: 106,402,193 (GRCm39) |
F288I |
probably damaging |
Het |
| Dnah8 |
C |
T |
17: 31,029,333 (GRCm39) |
R4101C |
probably damaging |
Het |
| Dnai4 |
A |
C |
4: 102,923,640 (GRCm39) |
N396K |
probably benign |
Het |
| Dnase2a |
G |
T |
8: 85,635,508 (GRCm39) |
|
probably null |
Het |
| Dnmbp |
C |
T |
19: 43,836,624 (GRCm39) |
V1235I |
probably benign |
Het |
| Eml6 |
T |
C |
11: 29,699,275 (GRCm39) |
D1826G |
probably damaging |
Het |
| Fam186b |
T |
C |
15: 99,178,315 (GRCm39) |
Y337C |
probably benign |
Het |
| Flg2 |
A |
T |
3: 93,108,579 (GRCm39) |
E202D |
probably benign |
Het |
| Fus |
C |
T |
7: 127,580,606 (GRCm39) |
R228C |
possibly damaging |
Het |
| Gbf1 |
A |
G |
19: 46,248,135 (GRCm39) |
E304G |
probably benign |
Het |
| Ggt1 |
A |
G |
10: 75,421,515 (GRCm39) |
|
probably null |
Het |
| Hdac4 |
T |
C |
1: 91,982,694 (GRCm39) |
D8G |
probably benign |
Het |
| Hhat |
A |
T |
1: 192,277,395 (GRCm39) |
Y355N |
probably damaging |
Het |
| Ift140 |
T |
C |
17: 25,247,946 (GRCm39) |
V268A |
probably benign |
Het |
| Il4i1 |
A |
G |
7: 44,489,836 (GRCm39) |
R542G |
probably benign |
Het |
| Itga2b |
C |
T |
11: 102,356,144 (GRCm39) |
V328I |
possibly damaging |
Het |
| Kmt2a |
T |
C |
9: 44,731,093 (GRCm39) |
|
probably benign |
Het |
| Lrit3 |
A |
T |
3: 129,593,995 (GRCm39) |
I194N |
probably damaging |
Het |
| Mast4 |
A |
G |
13: 102,872,717 (GRCm39) |
L2025P |
probably benign |
Het |
| Neb |
T |
C |
2: 52,164,000 (GRCm39) |
N1986S |
probably benign |
Het |
| Osbpl7 |
G |
A |
11: 96,943,650 (GRCm39) |
|
probably null |
Het |
| Pabpc2 |
T |
A |
18: 39,906,891 (GRCm39) |
L52Q |
probably damaging |
Het |
| Pald1 |
T |
C |
10: 61,156,910 (GRCm39) |
S847G |
possibly damaging |
Het |
| Pcdh12 |
T |
C |
18: 38,415,454 (GRCm39) |
D557G |
probably damaging |
Het |
| Prmt2 |
A |
T |
10: 76,058,425 (GRCm39) |
L128* |
probably null |
Het |
| Ptpn3 |
C |
A |
4: 57,249,981 (GRCm39) |
A172S |
probably benign |
Het |
| Ptpro |
A |
T |
6: 137,357,606 (GRCm39) |
T366S |
probably benign |
Het |
| Reg4 |
A |
G |
3: 98,138,600 (GRCm39) |
K100R |
probably null |
Het |
| Rims2 |
A |
T |
15: 39,061,758 (GRCm39) |
M1L |
unknown |
Het |
| Sele |
A |
G |
1: 163,878,377 (GRCm39) |
S239G |
probably damaging |
Het |
| Slc11a1 |
G |
A |
1: 74,423,274 (GRCm39) |
R375Q |
possibly damaging |
Het |
| Slc13a3 |
T |
C |
2: 165,248,617 (GRCm39) |
T554A |
unknown |
Het |
| Snw1 |
A |
T |
12: 87,511,398 (GRCm39) |
N84K |
probably damaging |
Het |
| Stpg4 |
T |
C |
17: 87,718,667 (GRCm39) |
Y171C |
probably benign |
Het |
| Styxl2 |
A |
T |
1: 165,926,388 (GRCm39) |
S1075T |
probably damaging |
Het |
| Tmem222 |
T |
A |
4: 132,995,606 (GRCm39) |
H147L |
probably damaging |
Het |
| Tmprss11f |
G |
T |
5: 86,681,636 (GRCm39) |
R206S |
probably damaging |
Het |
| Trappc11 |
G |
A |
8: 47,982,529 (GRCm39) |
T70M |
possibly damaging |
Het |
| Trpv4 |
G |
A |
5: 114,782,887 (GRCm39) |
T25I |
probably benign |
Het |
| Ttr |
T |
C |
18: 20,806,692 (GRCm39) |
V114A |
possibly damaging |
Het |
| Umod |
C |
T |
7: 119,076,520 (GRCm39) |
C82Y |
probably damaging |
Het |
| Upk3a |
T |
A |
15: 84,905,515 (GRCm39) |
M208K |
probably damaging |
Het |
| Vmn1r59 |
G |
A |
7: 5,457,539 (GRCm39) |
P74S |
probably damaging |
Het |
| Vwa3a |
A |
T |
7: 120,393,457 (GRCm39) |
R851S |
probably benign |
Het |
| Zfp236 |
G |
T |
18: 82,675,229 (GRCm39) |
T421K |
possibly damaging |
Het |
| Zswim9 |
C |
A |
7: 12,995,257 (GRCm39) |
G300* |
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 |
|
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 |
|
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'- GGCACCCAAGAAAGTGTCAG -3'
(R):5'- GGACCCTTCTTACAGTATGCTTAAG -3'
Sequencing Primer
(F):5'- CCCAAGAAAGTGTCAGAGTAATATGC -3'
(R):5'- AGGTTAAAAGCTTGGTCTCCACC -3'
|
| Posted On |
2018-02-28 |
Incidental Mutation