Incidental Mutation 'R7618:Gm9195'
| ID |
589020 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm9195
|
| Ensembl Gene |
ENSMUSG00000109446 |
| Gene Name |
predicted gene 9195 |
| Synonyms |
|
| MMRRC Submission |
045685-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.093)
|
| Stock # |
R7618 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
72669100-72699094 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 72690275 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 1816
(Y1816C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146536
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000208955]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000208955
AA Change: Y1816C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| Validation Efficiency |
98% (51/52) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap11 |
T |
C |
14: 78,736,300 (GRCm39) |
D1830G |
|
Het |
| Alms1 |
A |
G |
6: 85,655,399 (GRCm39) |
N2846S |
probably benign |
Het |
| Amt |
A |
C |
9: 108,177,077 (GRCm39) |
E228D |
probably damaging |
Het |
| Ankar |
T |
C |
1: 72,714,925 (GRCm39) |
M618V |
probably benign |
Het |
| Ankrd60 |
T |
C |
2: 173,412,834 (GRCm39) |
|
probably null |
Het |
| Aoc1 |
A |
G |
6: 48,883,320 (GRCm39) |
T399A |
possibly damaging |
Het |
| Aqp11 |
T |
A |
7: 97,386,873 (GRCm39) |
I108F |
probably benign |
Het |
| Arfgef3 |
G |
T |
10: 18,522,029 (GRCm39) |
Q666K |
probably damaging |
Het |
| Bin2 |
T |
A |
15: 100,542,894 (GRCm39) |
R430W |
probably damaging |
Het |
| Brme1 |
A |
G |
8: 84,893,499 (GRCm39) |
Q222R |
possibly damaging |
Het |
| Cdh18 |
T |
A |
15: 23,367,056 (GRCm39) |
V254D |
probably damaging |
Het |
| Cfap46 |
A |
T |
7: 139,183,155 (GRCm39) |
S159R |
|
Het |
| Clnk |
A |
T |
5: 38,893,698 (GRCm39) |
S220T |
probably benign |
Het |
| Col19a1 |
G |
T |
1: 24,361,165 (GRCm39) |
H608Q |
probably benign |
Het |
| Cplx1 |
C |
T |
5: 108,673,395 (GRCm39) |
E24K |
possibly damaging |
Het |
| Dnah3 |
A |
T |
7: 119,577,601 (GRCm39) |
L2031Q |
probably damaging |
Het |
| Dok1 |
T |
C |
6: 83,009,872 (GRCm39) |
E79G |
probably benign |
Het |
| Eif4g3 |
T |
C |
4: 137,898,429 (GRCm39) |
S902P |
probably damaging |
Het |
| Emilin3 |
T |
A |
2: 160,751,199 (GRCm39) |
E183D |
probably benign |
Het |
| Fam124b |
G |
A |
1: 80,191,554 (GRCm39) |
|
probably benign |
Het |
| Ighv5-9-1 |
T |
A |
12: 113,699,819 (GRCm39) |
I98F |
probably damaging |
Het |
| Il31ra |
G |
A |
13: 112,688,514 (GRCm39) |
P21L |
possibly damaging |
Het |
| Kat6a |
A |
G |
8: 23,352,578 (GRCm39) |
I121V |
possibly damaging |
Het |
| Kif11 |
T |
C |
19: 37,400,008 (GRCm39) |
W832R |
probably benign |
Het |
| Klhl9 |
T |
C |
4: 88,638,772 (GRCm39) |
T490A |
possibly damaging |
Het |
| Lars1 |
G |
T |
18: 42,377,956 (GRCm39) |
A153E |
probably benign |
Het |
| Muc5b |
A |
T |
7: 141,421,334 (GRCm39) |
I4275L |
probably benign |
Het |
| Myo10 |
T |
A |
15: 25,726,561 (GRCm39) |
C294* |
probably null |
Het |
| Nceh1 |
T |
A |
3: 27,237,366 (GRCm39) |
|
probably null |
Het |
| Ncf1 |
T |
A |
5: 134,256,121 (GRCm39) |
T93S |
probably benign |
Het |
| Nfatc2 |
G |
A |
2: 168,376,919 (GRCm39) |
R545C |
probably damaging |
Het |
| Nos1 |
C |
T |
5: 118,042,009 (GRCm39) |
P545S |
probably benign |
Het |
| Ogfod3 |
C |
A |
11: 121,093,804 (GRCm39) |
V69F |
probably damaging |
Het |
| Or4a27 |
A |
T |
2: 88,559,180 (GRCm39) |
Y254* |
probably null |
Het |
| Phf12 |
A |
G |
11: 77,916,960 (GRCm39) |
N272S |
unknown |
Het |
| Prkcz |
T |
A |
4: 155,346,939 (GRCm39) |
I581F |
probably damaging |
Het |
| Rasgrf2 |
T |
C |
13: 92,136,085 (GRCm39) |
H8R |
|
Het |
| Rb1cc1 |
T |
A |
1: 6,335,782 (GRCm39) |
|
probably null |
Het |
| Rcor2 |
T |
A |
19: 7,248,411 (GRCm39) |
M186K |
possibly damaging |
Het |
| Rnf111 |
C |
A |
9: 70,410,614 (GRCm39) |
|
probably benign |
Het |
| Sanbr |
A |
C |
11: 23,534,550 (GRCm39) |
C602W |
possibly damaging |
Het |
| Serinc3 |
A |
T |
2: 163,472,889 (GRCm39) |
F247Y |
possibly damaging |
Het |
| Serpina1c |
T |
A |
12: 103,865,029 (GRCm39) |
I206F |
probably damaging |
Het |
| Slc25a10 |
G |
A |
11: 120,387,797 (GRCm39) |
|
probably null |
Het |
| Syne2 |
T |
G |
12: 75,992,108 (GRCm39) |
H1993Q |
probably benign |
Het |
| Tap1 |
A |
G |
17: 34,407,212 (GRCm39) |
Y120C |
possibly damaging |
Het |
| Tex30 |
A |
T |
1: 44,127,410 (GRCm39) |
|
probably null |
Het |
| Ube2ql1 |
G |
T |
13: 69,887,066 (GRCm39) |
Q132K |
probably benign |
Het |
| Unc13d |
T |
C |
11: 115,957,547 (GRCm39) |
N803D |
probably damaging |
Het |
| Vcan |
G |
A |
13: 89,840,342 (GRCm39) |
S1734F |
probably damaging |
Het |
| Wdfy4 |
T |
C |
14: 32,707,696 (GRCm39) |
Y2630C |
|
Het |
| Wdr93 |
A |
G |
7: 79,435,474 (GRCm39) |
T668A |
probably benign |
Het |
|
| Other mutations in Gm9195 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R6448:Gm9195
|
UTSW |
14 |
72,671,451 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R6617:Gm9195
|
UTSW |
14 |
72,669,215 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6833:Gm9195
|
UTSW |
14 |
72,671,856 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R6843:Gm9195
|
UTSW |
14 |
72,678,651 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6994:Gm9195
|
UTSW |
14 |
72,718,271 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7082:Gm9195
|
UTSW |
14 |
72,680,152 (GRCm39) |
missense |
probably benign |
0.41 |
|
R7157:Gm9195
|
UTSW |
14 |
72,718,221 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7204:Gm9195
|
UTSW |
14 |
72,711,626 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7208:Gm9195
|
UTSW |
14 |
72,689,192 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7319:Gm9195
|
UTSW |
14 |
72,697,929 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7368:Gm9195
|
UTSW |
14 |
72,717,496 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7424:Gm9195
|
UTSW |
14 |
72,673,217 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7481:Gm9195
|
UTSW |
14 |
72,720,116 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7527:Gm9195
|
UTSW |
14 |
72,711,310 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7573:Gm9195
|
UTSW |
14 |
72,694,122 (GRCm39) |
missense |
probably null |
|
|
R7700:Gm9195
|
UTSW |
14 |
72,693,342 (GRCm39) |
splice site |
probably null |
|
|
R7740:Gm9195
|
UTSW |
14 |
72,678,113 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R7896:Gm9195
|
UTSW |
14 |
72,693,178 (GRCm39) |
missense |
unknown |
|
|
R8005:Gm9195
|
UTSW |
14 |
72,663,840 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8124:Gm9195
|
UTSW |
14 |
72,680,063 (GRCm39) |
missense |
probably benign |
0.41 |
|
R8177:Gm9195
|
UTSW |
14 |
72,697,977 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R8353:Gm9195
|
UTSW |
14 |
72,678,201 (GRCm39) |
missense |
probably benign |
0.41 |
|
R8371:Gm9195
|
UTSW |
14 |
72,697,899 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8453:Gm9195
|
UTSW |
14 |
72,678,201 (GRCm39) |
missense |
probably benign |
0.41 |
|
R8700:Gm9195
|
UTSW |
14 |
72,720,171 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8821:Gm9195
|
UTSW |
14 |
72,717,536 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8836:Gm9195
|
UTSW |
14 |
72,695,830 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8880:Gm9195
|
UTSW |
14 |
72,691,320 (GRCm39) |
missense |
unknown |
|
|
R8977:Gm9195
|
UTSW |
14 |
72,691,338 (GRCm39) |
missense |
unknown |
|
|
R9111:Gm9195
|
UTSW |
14 |
72,694,123 (GRCm39) |
nonsense |
probably null |
|
|
R9157:Gm9195
|
UTSW |
14 |
72,692,038 (GRCm39) |
missense |
unknown |
|
|
R9172:Gm9195
|
UTSW |
14 |
72,711,154 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9234:Gm9195
|
UTSW |
14 |
72,695,786 (GRCm39) |
nonsense |
probably null |
|
|
R9246:Gm9195
|
UTSW |
14 |
72,710,314 (GRCm39) |
missense |
probably benign |
0.29 |
|
R9267:Gm9195
|
UTSW |
14 |
72,700,546 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9341:Gm9195
|
UTSW |
14 |
72,717,500 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9343:Gm9195
|
UTSW |
14 |
72,717,500 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9446:Gm9195
|
UTSW |
14 |
72,717,957 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9546:Gm9195
|
UTSW |
14 |
72,718,347 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R9676:Gm9195
|
UTSW |
14 |
72,709,667 (GRCm39) |
missense |
unknown |
|
|
R9739:Gm9195
|
UTSW |
14 |
72,690,264 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9764:Gm9195
|
UTSW |
14 |
72,699,885 (GRCm39) |
missense |
unknown |
|
|
R9797:Gm9195
|
UTSW |
14 |
72,687,705 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Gm9195
|
UTSW |
14 |
72,690,874 (GRCm39) |
frame shift |
probably null |
|
|
Z1177:Gm9195
|
UTSW |
14 |
72,680,442 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCTGAGCTCAGTAAATGGC -3'
(R):5'- TTGACAGGATACCTTGGGAATG -3'
Sequencing Primer
(F):5'- GAGCTCAGTAAATGGCTCTTTTAACC -3'
(R):5'- TTTCGTTCAGAGCCAGG -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation