Incidental Mutation 'R6448:Gm9195'
ID |
519264 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gm9195
|
Ensembl Gene |
ENSMUSG00000109446 |
Gene Name |
predicted gene 9195 |
Synonyms |
|
MMRRC Submission |
044584-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.093)
|
Stock # |
R6448 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
72669100-72699094 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 72671451 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 2611
(D2611E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000146536
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000208955]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000208955
AA Change: D2611E
PolyPhen 2
Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 93.3%
|
Validation Efficiency |
97% (32/33) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgap5 |
A |
T |
12: 52,564,446 (GRCm39) |
K472N |
probably benign |
Het |
C2 |
T |
G |
17: 35,082,335 (GRCm39) |
D298A |
possibly damaging |
Het |
Col16a1 |
T |
G |
4: 129,952,781 (GRCm39) |
L409R |
probably damaging |
Het |
Dlgap1 |
A |
G |
17: 70,900,325 (GRCm39) |
E380G |
possibly damaging |
Het |
Fam111a |
C |
A |
19: 12,565,701 (GRCm39) |
H483Q |
probably benign |
Het |
Fancc |
C |
T |
13: 63,488,242 (GRCm39) |
R246Q |
probably damaging |
Het |
Glb1 |
A |
T |
9: 114,263,499 (GRCm39) |
Q256L |
probably damaging |
Het |
Gsto1 |
C |
T |
19: 47,846,420 (GRCm39) |
T89I |
probably benign |
Het |
Hmcn2 |
A |
G |
2: 31,310,832 (GRCm39) |
S3359G |
probably benign |
Het |
Hook3 |
T |
A |
8: 26,583,692 (GRCm39) |
N87I |
probably benign |
Het |
Htt |
T |
A |
5: 35,033,336 (GRCm39) |
M1868K |
probably benign |
Het |
Ighv1-19 |
T |
C |
12: 114,672,296 (GRCm39) |
E107G |
probably damaging |
Het |
Il20rb |
A |
T |
9: 100,356,986 (GRCm39) |
M48K |
probably benign |
Het |
Inpp5j |
T |
C |
11: 3,445,387 (GRCm39) |
H822R |
probably damaging |
Het |
Kif14 |
G |
T |
1: 136,431,085 (GRCm39) |
V1161F |
probably damaging |
Het |
Klhdc2 |
T |
A |
12: 69,350,694 (GRCm39) |
D169E |
probably benign |
Het |
Ly75 |
A |
G |
2: 60,129,389 (GRCm39) |
|
probably null |
Het |
Myh15 |
T |
G |
16: 48,992,295 (GRCm39) |
S1590A |
probably damaging |
Het |
Ncbp2 |
CGTCTGGATG |
CG |
16: 31,775,161 (GRCm39) |
|
probably null |
Het |
Neb |
T |
C |
2: 52,038,826 (GRCm39) |
D6748G |
probably damaging |
Het |
Nfrkb |
T |
C |
9: 31,306,085 (GRCm39) |
Y142H |
probably damaging |
Het |
Or6c208 |
A |
T |
10: 129,224,021 (GRCm39) |
D173V |
probably damaging |
Het |
Or7a39 |
G |
A |
10: 78,715,516 (GRCm39) |
C170Y |
possibly damaging |
Het |
Or8k20 |
T |
A |
2: 86,106,691 (GRCm39) |
I47F |
probably benign |
Het |
Prm2 |
G |
A |
16: 10,609,825 (GRCm39) |
|
probably benign |
Het |
Ralgapa1 |
T |
C |
12: 55,766,446 (GRCm39) |
T1283A |
probably benign |
Het |
Rest |
T |
C |
5: 77,429,318 (GRCm39) |
L579P |
possibly damaging |
Het |
Slc6a1 |
C |
T |
6: 114,279,047 (GRCm39) |
T46I |
possibly damaging |
Het |
Tcf20 |
A |
G |
15: 82,736,861 (GRCm39) |
I1530T |
probably benign |
Het |
Tox |
T |
G |
4: 6,822,975 (GRCm39) |
D114A |
probably benign |
Het |
Ulk4 |
C |
T |
9: 120,932,696 (GRCm39) |
G1048D |
probably damaging |
Het |
|
Other mutations in Gm9195 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
|
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'- AGACCCTCCAAATGTTGTAGTTG -3'
(R):5'- ATCATGCATGCAAATGCCC -3'
Sequencing Primer
(F):5'- GTCTTAAGGCTTCAAATCAAGTTGTG -3'
(R):5'- TGCATGCAAATGCCCATAAAC -3'
|
Posted On |
2018-05-24 |