Incidental Mutation 'R9739:Gm9195'
| ID |
731771 |
| 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: 0.091)
|
| Stock # |
R9739 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
72669100-72699094 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 72690264 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 1820
(D1820N)
|
| 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: D1820N
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.4%
- 20x: 98.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb3 |
C |
T |
1: 25,592,849 (GRCm39) |
V313M |
probably damaging |
Het |
| Alg6 |
G |
A |
4: 99,650,195 (GRCm39) |
V472I |
possibly damaging |
Het |
| Atp8b2 |
A |
G |
3: 89,853,403 (GRCm39) |
V728A |
probably benign |
Het |
| Bach2 |
T |
A |
4: 32,563,042 (GRCm39) |
I503N |
probably damaging |
Het |
| Bend3 |
T |
C |
10: 43,385,847 (GRCm39) |
L80P |
possibly damaging |
Het |
| Casq1 |
T |
C |
1: 172,043,051 (GRCm39) |
D215G |
possibly damaging |
Het |
| Ccdc175 |
A |
T |
12: 72,186,792 (GRCm39) |
Y351N |
probably benign |
Het |
| Cd200r4 |
A |
T |
16: 44,641,142 (GRCm39) |
|
probably benign |
Het |
| Ctnnal1 |
T |
C |
4: 56,816,200 (GRCm39) |
D621G |
probably damaging |
Het |
| Esco1 |
T |
A |
18: 10,594,218 (GRCm39) |
H356L |
probably benign |
Het |
| Fhod1 |
C |
T |
8: 106,064,378 (GRCm39) |
V191M |
unknown |
Het |
| Fhod3 |
T |
C |
18: 24,903,566 (GRCm39) |
L100P |
probably damaging |
Het |
| Fkbp4 |
T |
C |
6: 128,410,728 (GRCm39) |
R234G |
probably benign |
Het |
| Flnb |
A |
T |
14: 7,935,954 (GRCm38) |
K2265* |
probably null |
Het |
| Fsip2 |
T |
C |
2: 82,823,896 (GRCm39) |
F6543S |
possibly damaging |
Het |
| Fyb1 |
A |
G |
15: 6,670,063 (GRCm39) |
N594S |
probably benign |
Het |
| Gm17019 |
G |
A |
5: 15,082,841 (GRCm39) |
R38* |
probably null |
Het |
| Gm37240 |
A |
G |
3: 84,417,113 (GRCm39) |
|
probably null |
Het |
| Mycbp2 |
A |
G |
14: 103,520,229 (GRCm39) |
V729A |
probably benign |
Het |
| Or8g21 |
G |
T |
9: 38,906,302 (GRCm39) |
S143* |
probably null |
Het |
| Or9s18 |
T |
C |
13: 65,300,442 (GRCm39) |
S135P |
probably damaging |
Het |
| Pde12 |
T |
C |
14: 26,386,757 (GRCm39) |
T584A |
possibly damaging |
Het |
| Pfkfb2 |
T |
C |
1: 130,624,815 (GRCm39) |
Q515R |
probably benign |
Het |
| Pkhd1 |
T |
C |
1: 20,420,708 (GRCm39) |
N2466S |
probably damaging |
Het |
| Plcd1 |
A |
G |
9: 118,901,195 (GRCm39) |
V720A |
possibly damaging |
Het |
| Pramel24 |
T |
A |
4: 143,454,997 (GRCm39) |
F432I |
possibly damaging |
Het |
| Rapgef6 |
A |
G |
11: 54,513,189 (GRCm39) |
T285A |
probably benign |
Het |
| Scyl3 |
T |
C |
1: 163,771,419 (GRCm39) |
F255S |
probably damaging |
Het |
| Sfrp5 |
T |
A |
19: 42,188,247 (GRCm39) |
M191L |
probably benign |
Het |
| Snrpf |
C |
T |
10: 93,419,390 (GRCm39) |
C66Y |
probably benign |
Het |
| Syngr2 |
T |
A |
11: 117,703,298 (GRCm39) |
I38N |
probably damaging |
Het |
| Thap1 |
C |
T |
8: 26,650,990 (GRCm39) |
H87Y |
probably benign |
Het |
| Tubgcp3 |
A |
G |
8: 12,699,744 (GRCm39) |
Y370H |
probably benign |
Het |
| Usp17la |
A |
T |
7: 104,510,736 (GRCm39) |
N447I |
possibly damaging |
Het |
| Zfp532 |
C |
T |
18: 65,757,894 (GRCm39) |
T609M |
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 |
|
|
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 |
|
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 |
|
|
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'- TTCAAGTTGACAGGATACCTTGG -3'
Sequencing Primer
(F):5'- GAGCTCAGTAAATGGCTCTTTTAACC -3'
(R):5'- CACCTTTCGTTCAGAGC -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation