Incidental Mutation 'R9446:Gm9195'
| ID |
713963 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm9195
|
| Ensembl Gene |
ENSMUSG00000109446 |
| Gene Name |
predicted gene 9195 |
| Synonyms |
|
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.093)
|
| Stock # |
R9446 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
72669100-72699094 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 72717957 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 187
(Y187C)
|
| 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: Y187C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adal |
T |
G |
2: 120,976,530 (GRCm39) |
I90S |
probably null |
Het |
| Adck2 |
G |
T |
6: 39,551,221 (GRCm39) |
|
probably benign |
Het |
| Adgrf3 |
G |
T |
5: 30,401,957 (GRCm39) |
D690E |
probably benign |
Het |
| Aff3 |
C |
T |
1: 38,574,337 (GRCm39) |
G175S |
probably benign |
Het |
| Atf7 |
T |
C |
15: 102,459,923 (GRCm39) |
H159R |
probably damaging |
Het |
| BB014433 |
GGGTTGGGGCCTCTGCACACAGCTTTGGAGGTGTACACACCCAGGTTGGGGGCTCTGCACACAGCTTTGGAGGTGTACACACCGGGGTTGGGGCCTCTGCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGGGGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGGAGGTGTACACACCCAGGTTGGGGGCTCTGCACACAGCTTTGGAGGTGTACACACCGGGGTTGGGGCCTCTGCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTACACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG |
GGGTTGGGGGCTCTGCACACAGCTTTGGAGGTGTACACACCGGGGTTGGGGCCTCTGCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGGGGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGGAGGTGTACACACCCAGGTTGGGGGCTCTGCACACAGCTTTGGAGGTGTACACACCGGGGTTGGGGCCTCTGCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTACACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG |
8: 15,091,810 (GRCm39) |
|
probably benign |
Het |
| Birc6 |
A |
G |
17: 74,925,491 (GRCm39) |
K2241R |
probably damaging |
Het |
| Cacna1s |
A |
G |
1: 136,045,362 (GRCm39) |
E1670G |
probably benign |
Het |
| Clca4b |
C |
T |
3: 144,638,134 (GRCm39) |
A43T |
probably benign |
Het |
| Clock |
T |
A |
5: 76,396,288 (GRCm39) |
I154L |
probably benign |
Het |
| Dnah10 |
A |
T |
5: 124,823,677 (GRCm39) |
D566V |
probably damaging |
Het |
| Eml1 |
T |
C |
12: 108,481,465 (GRCm39) |
W443R |
probably damaging |
Het |
| Ghitm |
A |
G |
14: 36,853,606 (GRCm39) |
I78T |
possibly damaging |
Het |
| Gm4181 |
A |
T |
14: 51,873,062 (GRCm39) |
M1K |
probably null |
Het |
| Htt |
A |
G |
5: 34,919,272 (GRCm39) |
M8V |
probably benign |
Het |
| Ighv1-9 |
T |
C |
12: 114,547,388 (GRCm39) |
Y51C |
probably benign |
Het |
| Kif13b |
G |
A |
14: 64,984,470 (GRCm39) |
E636K |
probably damaging |
Het |
| Mamdc4 |
T |
A |
2: 25,453,645 (GRCm39) |
M1179L |
probably benign |
Het |
| Map3k4 |
G |
A |
17: 12,451,375 (GRCm39) |
A1506V |
probably damaging |
Het |
| Mbtd1 |
T |
C |
11: 93,834,508 (GRCm39) |
S622P |
unknown |
Het |
| Med13l |
T |
A |
5: 118,876,567 (GRCm39) |
D914E |
probably benign |
Het |
| Mettl9 |
T |
A |
7: 120,675,531 (GRCm39) |
D310E |
possibly damaging |
Het |
| Myh13 |
T |
G |
11: 67,255,325 (GRCm39) |
V1565G |
probably benign |
Het |
| Nrf1 |
A |
G |
6: 30,090,019 (GRCm39) |
T33A |
probably damaging |
Het |
| Oas1d |
A |
G |
5: 121,054,947 (GRCm39) |
K173R |
probably benign |
Het |
| Or12e10 |
A |
T |
2: 87,640,199 (GRCm39) |
M12L |
probably benign |
Het |
| Or1e34 |
T |
A |
11: 73,778,530 (GRCm39) |
T223S |
probably benign |
Het |
| Or4k6 |
A |
G |
14: 50,475,974 (GRCm39) |
Y123H |
probably damaging |
Het |
| Or8g54 |
A |
T |
9: 39,707,342 (GRCm39) |
S224C |
probably damaging |
Het |
| Pde6a |
T |
A |
18: 61,419,067 (GRCm39) |
D814E |
probably benign |
Het |
| Pilrb2 |
T |
C |
5: 137,869,429 (GRCm39) |
D57G |
possibly damaging |
Het |
| Psg21 |
T |
A |
7: 18,388,865 (GRCm39) |
T76S |
probably benign |
Het |
| Ralgapa1 |
A |
G |
12: 55,754,808 (GRCm39) |
V1161A |
probably damaging |
Het |
| Rtl1 |
C |
G |
12: 109,556,604 (GRCm39) |
*1745S |
probably null |
Het |
| Samd8 |
T |
C |
14: 21,833,769 (GRCm39) |
C296R |
|
Het |
| Selplg |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
5: 113,957,756 (GRCm39) |
|
probably benign |
Het |
| Sfmbt1 |
T |
C |
14: 30,506,697 (GRCm39) |
I247T |
possibly damaging |
Het |
| Smarca4 |
G |
A |
9: 21,547,155 (GRCm39) |
A227T |
unknown |
Het |
| Trmt6 |
G |
A |
2: 132,650,774 (GRCm39) |
S278L |
probably benign |
Het |
| Trpm6 |
T |
C |
19: 18,815,462 (GRCm39) |
S1183P |
possibly damaging |
Het |
| Trpm7 |
T |
A |
2: 126,672,185 (GRCm39) |
|
probably null |
Het |
| Wnt10a |
C |
A |
1: 74,842,728 (GRCm39) |
F401L |
possibly damaging |
Het |
| Zfp970 |
A |
T |
2: 177,167,064 (GRCm39) |
K213* |
probably null |
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 |
|
|
R7618:Gm9195
|
UTSW |
14 |
72,690,275 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- TGCTGTTGGCCTCAAGCATG -3'
(R):5'- TCTACTGCCCACGAGGTAAGTG -3'
Sequencing Primer
(F):5'- TGGGGCAGATGTGGGAAGTC -3'
(R):5'- TGGGACATAGCTTCCCCAG -3'
|
| Posted On |
2022-06-15 |
Incidental Mutation