Incidental Mutation 'T0970:Gm11232'
ID |
67256 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gm11232
|
Ensembl Gene |
ENSMUSG00000066141 |
Gene Name |
predicted gene 11232 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.048)
|
Stock # |
T0970 (G3)
of strain
713
|
Quality Score |
204 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
71673983-71676197 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 71674740 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Phenylalanine
at position 254
(Y254F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000081532
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084489]
|
AlphaFold |
Q5SPI8 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000084489
AA Change: Y254F
PolyPhen 2
Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.9%
- 10x: 97.3%
- 20x: 94.7%
|
Validation Efficiency |
100% (25/25) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 23 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ano4 |
A |
T |
10: 88,817,052 (GRCm39) |
L591* |
probably null |
Het |
Aqp4 |
A |
G |
18: 15,532,940 (GRCm39) |
L51P |
probably damaging |
Het |
Cemip |
A |
T |
7: 83,632,354 (GRCm39) |
C403S |
probably damaging |
Het |
Cfap74 |
G |
T |
4: 155,547,574 (GRCm39) |
|
probably null |
Het |
Glis3 |
G |
A |
19: 28,508,332 (GRCm39) |
R551W |
probably damaging |
Het |
Map3k14 |
G |
T |
11: 103,115,124 (GRCm39) |
C837* |
probably null |
Het |
Mrc2 |
A |
C |
11: 105,238,453 (GRCm39) |
E1200A |
probably benign |
Het |
Nfix |
T |
C |
8: 85,453,112 (GRCm39) |
N314S |
possibly damaging |
Het |
Nphp4 |
T |
C |
4: 152,640,836 (GRCm39) |
S1068P |
probably damaging |
Het |
Nup98 |
A |
C |
7: 101,835,959 (GRCm39) |
|
probably benign |
Het |
Or13p8 |
A |
G |
4: 118,583,464 (GRCm39) |
R7G |
probably benign |
Het |
Pcdhac2 |
T |
C |
18: 37,278,388 (GRCm39) |
V456A |
possibly damaging |
Het |
Pcdhb1 |
G |
T |
18: 37,399,026 (GRCm39) |
G326C |
probably damaging |
Het |
Prss38 |
A |
G |
11: 59,263,974 (GRCm39) |
V246A |
possibly damaging |
Het |
Rnf26 |
C |
G |
9: 44,023,369 (GRCm39) |
R172P |
probably damaging |
Het |
Septin4 |
A |
T |
11: 87,458,558 (GRCm39) |
T311S |
probably damaging |
Het |
Serinc3 |
TATCATC |
TATC |
2: 163,469,835 (GRCm39) |
|
probably benign |
Het |
Spire1 |
C |
A |
18: 67,634,133 (GRCm39) |
|
probably null |
Het |
Tex2 |
T |
A |
11: 106,437,772 (GRCm39) |
I633F |
unknown |
Het |
Tle2 |
A |
G |
10: 81,416,119 (GRCm39) |
D108G |
possibly damaging |
Het |
Txnrd2 |
T |
C |
16: 18,260,523 (GRCm39) |
V185A |
probably damaging |
Het |
Unc45b |
C |
A |
11: 82,813,714 (GRCm39) |
H374N |
probably benign |
Het |
Wtap |
T |
C |
17: 13,188,277 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Gm11232 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
hint
|
UTSW |
4 |
71,675,450 (GRCm39) |
nonsense |
probably null |
|
suggestion
|
UTSW |
4 |
71,675,138 (GRCm39) |
missense |
possibly damaging |
0.82 |
R0062:Gm11232
|
UTSW |
4 |
71,675,112 (GRCm39) |
missense |
possibly damaging |
0.46 |
R0062:Gm11232
|
UTSW |
4 |
71,675,112 (GRCm39) |
missense |
possibly damaging |
0.46 |
R1457:Gm11232
|
UTSW |
4 |
71,675,156 (GRCm39) |
critical splice acceptor site |
probably null |
|
R1458:Gm11232
|
UTSW |
4 |
71,675,450 (GRCm39) |
nonsense |
probably null |
|
R1594:Gm11232
|
UTSW |
4 |
71,675,572 (GRCm39) |
missense |
possibly damaging |
0.82 |
R2566:Gm11232
|
UTSW |
4 |
71,676,022 (GRCm39) |
missense |
probably benign |
0.00 |
R4983:Gm11232
|
UTSW |
4 |
71,675,138 (GRCm39) |
missense |
possibly damaging |
0.82 |
R6020:Gm11232
|
UTSW |
4 |
71,674,905 (GRCm39) |
missense |
possibly damaging |
0.66 |
R6977:Gm11232
|
UTSW |
4 |
71,676,178 (GRCm39) |
start gained |
probably benign |
|
R7375:Gm11232
|
UTSW |
4 |
71,675,583 (GRCm39) |
nonsense |
probably null |
|
R7772:Gm11232
|
UTSW |
4 |
71,674,818 (GRCm39) |
missense |
possibly damaging |
0.52 |
R8523:Gm11232
|
UTSW |
4 |
71,675,465 (GRCm39) |
missense |
probably benign |
0.27 |
R9080:Gm11232
|
UTSW |
4 |
71,676,070 (GRCm39) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- GGTTTGATGCTCACTGGACACAAGG -3'
(R):5'- CAGAGTCTTCACCAATCTGAGTGCC -3'
Sequencing Primer
(F):5'- GCCTGCATCCTGGTCTCTATG -3'
(R):5'- TGACCCTGGATGACCTACAG -3'
|
Posted On |
2013-09-03 |