Incidental Mutation 'R6617:Gm9195'
ID |
524175 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gm9195
|
Ensembl Gene |
ENSMUSG00000109446 |
Gene Name |
predicted gene 9195 |
Synonyms |
|
MMRRC Submission |
044740-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.093)
|
Stock # |
R6617 (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 72669215 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Histidine
at position 2649
(L2649H)
|
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: L2649H
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.2%
|
Validation Efficiency |
100% (39/39) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam6b |
T |
A |
12: 113,454,152 (GRCm39) |
I323K |
possibly damaging |
Het |
Agbl4 |
T |
A |
4: 110,437,332 (GRCm39) |
V81D |
probably damaging |
Het |
Akap13 |
A |
G |
7: 75,380,111 (GRCm39) |
D2147G |
possibly damaging |
Het |
Akap9 |
C |
G |
5: 4,018,745 (GRCm39) |
H1109D |
probably benign |
Het |
Arhgef18 |
T |
C |
8: 3,489,592 (GRCm39) |
L308P |
probably damaging |
Het |
Atad2b |
C |
A |
12: 5,074,668 (GRCm39) |
L1076I |
probably benign |
Het |
Chp2 |
T |
C |
7: 121,819,917 (GRCm39) |
V59A |
probably benign |
Het |
Cped1 |
T |
A |
6: 22,215,546 (GRCm39) |
C555* |
probably null |
Het |
Crebbp |
C |
T |
16: 3,937,670 (GRCm39) |
A698T |
possibly damaging |
Het |
Crispld1 |
G |
A |
1: 17,798,886 (GRCm39) |
M2I |
probably benign |
Het |
Cul3 |
T |
C |
1: 80,254,156 (GRCm39) |
N540S |
probably damaging |
Het |
Dll4 |
A |
G |
2: 119,158,412 (GRCm39) |
T134A |
probably benign |
Het |
Fat2 |
G |
A |
11: 55,186,931 (GRCm39) |
T1305I |
probably benign |
Het |
Fbxw8 |
A |
G |
5: 118,280,731 (GRCm39) |
|
probably null |
Het |
Gprc5c |
A |
G |
11: 114,754,931 (GRCm39) |
I203V |
probably benign |
Het |
Hmcn1 |
T |
C |
1: 150,619,547 (GRCm39) |
D1189G |
probably benign |
Het |
Hnrnpl |
C |
A |
7: 28,518,009 (GRCm39) |
|
probably benign |
Het |
Homer1 |
T |
A |
13: 93,478,370 (GRCm39) |
Y38N |
probably damaging |
Het |
Itgb5 |
A |
G |
16: 33,766,962 (GRCm39) |
T707A |
probably benign |
Het |
Lmbrd1 |
G |
A |
1: 24,724,509 (GRCm39) |
R31Q |
probably damaging |
Het |
Mbtps1 |
G |
A |
8: 120,264,876 (GRCm39) |
P341S |
probably damaging |
Het |
Mlxip |
A |
G |
5: 123,580,512 (GRCm39) |
|
probably null |
Het |
Myh13 |
A |
T |
11: 67,252,226 (GRCm39) |
T1445S |
probably benign |
Het |
Ncapg |
C |
T |
5: 45,827,474 (GRCm39) |
A37V |
probably benign |
Het |
Neb |
A |
G |
2: 52,097,759 (GRCm39) |
F4909L |
probably damaging |
Het |
Nrcam |
T |
A |
12: 44,587,746 (GRCm39) |
W141R |
probably damaging |
Het |
Or6k4 |
T |
G |
1: 173,964,814 (GRCm39) |
F168C |
probably damaging |
Het |
Phykpl |
A |
G |
11: 51,484,781 (GRCm39) |
E247G |
probably damaging |
Het |
Plekhh2 |
A |
G |
17: 84,873,715 (GRCm39) |
I333M |
possibly damaging |
Het |
Sorcs2 |
A |
G |
5: 36,235,310 (GRCm39) |
F69L |
probably damaging |
Het |
Sspo |
C |
A |
6: 48,467,980 (GRCm39) |
T349K |
possibly damaging |
Het |
Stap2 |
A |
G |
17: 56,306,746 (GRCm39) |
S276P |
probably benign |
Het |
Tle1 |
A |
G |
4: 72,059,517 (GRCm39) |
S275P |
probably damaging |
Het |
Topors |
G |
A |
4: 40,261,896 (GRCm39) |
Q463* |
probably null |
Het |
Tsc1 |
A |
G |
2: 28,577,001 (GRCm39) |
D1101G |
possibly damaging |
Het |
Tyrp1 |
G |
A |
4: 80,764,984 (GRCm39) |
A54T |
probably benign |
Het |
Vcam1 |
A |
G |
3: 115,919,711 (GRCm39) |
V185A |
possibly damaging |
Het |
Vmn2r19 |
T |
A |
6: 123,313,494 (GRCm39) |
*855R |
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 |
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'- CCCCTGGCCAATATTCACTAG -3'
(R):5'- GAAAGGGTTCATCGAGCCTG -3'
Sequencing Primer
(F):5'- CCAAAGTTGTGATTGATTTCTGTC -3'
(R):5'- TTCATCGAGCCTGCCTGG -3'
|
Posted On |
2018-06-22 |