Incidental Mutation 'P0023:Gm11992'
| ID |
15539 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm11992
|
| Ensembl Gene |
ENSMUSG00000040978 |
| Gene Name |
predicted gene 11992 |
| Synonyms |
|
| MMRRC Submission |
038276-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
P0023 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
8998592-9019354 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 9002846 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 70
(Y70H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039806
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043285]
[ENSMUST00000102909]
|
| AlphaFold |
Q5SS90 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000043285
AA Change: Y70H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000039806
Gene: ENSMUSG00000040978
AA Change: Y70H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
244 |
255 |
N/A |
INTRINSIC |
|
low complexity region
|
259 |
269 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102909
|
| SMART Domains |
Protein: ENSMUSP00000099973
Gene: ENSMUSG00000040985
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sad1_UNC
|
122 |
256 |
3.2e-48 |
PFAM |
|
| Meta Mutation Damage Score |
0.5239 |
| Coding Region Coverage |
- 1x: 85.1%
- 3x: 76.2%
- 10x: 34.8%
- 20x: 2.4%
|
| Validation Efficiency |
97% (62/64) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr3 |
A |
T |
1: 125,322,803 (GRCm39) |
|
probably null |
Het |
| Chp2 |
A |
G |
7: 121,821,361 (GRCm39) |
N185S |
probably benign |
Het |
| Cited2 |
A |
G |
10: 17,600,463 (GRCm39) |
D257G |
probably damaging |
Het |
| Clptm1l |
G |
T |
13: 73,753,071 (GRCm39) |
R62L |
possibly damaging |
Het |
| Cmya5 |
C |
T |
13: 93,225,854 (GRCm39) |
S3078N |
probably benign |
Het |
| Dcaf1 |
T |
A |
9: 106,737,650 (GRCm39) |
F1169I |
probably benign |
Het |
| Efhc1 |
G |
A |
1: 21,025,751 (GRCm39) |
V86I |
probably benign |
Het |
| Fanci |
A |
C |
7: 79,052,048 (GRCm39) |
D107A |
probably benign |
Het |
| Fyb1 |
A |
T |
15: 6,681,335 (GRCm39) |
K74M |
probably damaging |
Het |
| Gapvd1 |
A |
G |
2: 34,596,700 (GRCm39) |
|
probably benign |
Het |
| Lrba |
A |
G |
3: 86,325,242 (GRCm39) |
E1900G |
probably damaging |
Het |
| Lrpprc |
G |
A |
17: 85,033,766 (GRCm39) |
T1037M |
probably benign |
Het |
| Or8b50 |
A |
G |
9: 38,517,941 (GRCm39) |
Y60C |
probably damaging |
Het |
| Piezo2 |
A |
G |
18: 63,519,271 (GRCm39) |
|
probably benign |
Het |
| Pld1 |
T |
C |
3: 28,102,274 (GRCm39) |
S342P |
probably damaging |
Het |
| Prkag3 |
A |
G |
1: 74,779,898 (GRCm39) |
L479P |
probably damaging |
Het |
| Rsf1 |
T |
C |
7: 97,311,478 (GRCm39) |
I736T |
probably damaging |
Het |
| Tet2 |
C |
A |
3: 133,192,654 (GRCm39) |
M593I |
probably benign |
Het |
| Ttpal |
T |
C |
2: 163,453,729 (GRCm39) |
Y167H |
probably damaging |
Het |
|
| Other mutations in Gm11992 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01329:Gm11992
|
APN |
11 |
9,018,383 (GRCm39) |
makesense |
probably null |
|
|
IGL01837:Gm11992
|
APN |
11 |
9,011,266 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02405:Gm11992
|
APN |
11 |
9,009,939 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02875:Gm11992
|
APN |
11 |
9,002,887 (GRCm39) |
unclassified |
probably benign |
|
|
R5100:Gm11992
|
UTSW |
11 |
9,011,290 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5471:Gm11992
|
UTSW |
11 |
9,018,333 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5935:Gm11992
|
UTSW |
11 |
9,002,711 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6715:Gm11992
|
UTSW |
11 |
9,011,214 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7559:Gm11992
|
UTSW |
11 |
9,002,747 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7910:Gm11992
|
UTSW |
11 |
8,999,165 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8397:Gm11992
|
UTSW |
11 |
9,011,305 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9696:Gm11992
|
UTSW |
11 |
9,006,438 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9702:Gm11992
|
UTSW |
11 |
9,006,568 (GRCm39) |
missense |
probably benign |
0.05 |
|
| Posted On |
2012-12-21 |
Incidental Mutation