Incidental Mutation 'IGL02808:Srms'
ID |
360485 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Srms
|
Ensembl Gene |
ENSMUSG00000027579 |
Gene Name |
src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites |
Synonyms |
A230069J08Rik, srm |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.836)
|
Stock # |
IGL02808
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
180847356-180854964 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 180849501 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 301
(I301N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000016498
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016498]
[ENSMUST00000016511]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000016498
AA Change: I301N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000016498 Gene: ENSMUSG00000027579 AA Change: I301N
Domain | Start | End | E-Value | Type |
SH3
|
69 |
126 |
3.13e-9 |
SMART |
SH2
|
133 |
218 |
5.29e-32 |
SMART |
TyrKc
|
245 |
495 |
2.75e-135 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000016511
|
SMART Domains |
Protein: ENSMUSP00000016511 Gene: ENSMUSG00000038751
Domain | Start | End | E-Value | Type |
SH3
|
11 |
71 |
2e-16 |
SMART |
SH2
|
76 |
161 |
1.01e-28 |
SMART |
TyrKc
|
191 |
441 |
1.12e-131 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Homozygous mice exhibit no detectable abnormalities. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adk |
C |
T |
14: 21,153,901 (GRCm39) |
P35S |
probably benign |
Het |
Ankmy1 |
T |
A |
1: 92,814,388 (GRCm39) |
D373V |
probably damaging |
Het |
Aox3 |
A |
G |
1: 58,181,859 (GRCm39) |
Y282C |
probably damaging |
Het |
Bcas3 |
A |
G |
11: 85,386,677 (GRCm39) |
T371A |
probably benign |
Het |
Bckdhb |
T |
C |
9: 83,870,898 (GRCm39) |
V136A |
probably benign |
Het |
Ccdc18 |
G |
T |
5: 108,283,835 (GRCm39) |
|
probably benign |
Het |
Cdc25a |
T |
A |
9: 109,712,667 (GRCm39) |
|
probably null |
Het |
Ckap5 |
T |
A |
2: 91,426,859 (GRCm39) |
Y1394N |
probably damaging |
Het |
Dhx15 |
A |
G |
5: 52,319,041 (GRCm39) |
V458A |
possibly damaging |
Het |
Dram1 |
T |
C |
10: 88,172,786 (GRCm39) |
Y136C |
probably damaging |
Het |
Dusp19 |
A |
G |
2: 80,447,815 (GRCm39) |
K30E |
probably benign |
Het |
Elmo2 |
T |
C |
2: 165,133,627 (GRCm39) |
|
probably benign |
Het |
Fcho1 |
G |
A |
8: 72,165,185 (GRCm39) |
S424L |
possibly damaging |
Het |
Ganc |
A |
G |
2: 120,241,992 (GRCm39) |
T57A |
probably benign |
Het |
Hgs |
T |
A |
11: 120,360,492 (GRCm39) |
Y63* |
probably null |
Het |
Marchf6 |
A |
T |
15: 31,478,552 (GRCm39) |
N594K |
probably benign |
Het |
Muc5ac |
C |
A |
7: 141,359,512 (GRCm39) |
T1323N |
possibly damaging |
Het |
Mycn |
T |
C |
12: 12,989,893 (GRCm39) |
S168G |
probably benign |
Het |
Phf11d |
G |
T |
14: 59,586,739 (GRCm39) |
Q298K |
probably damaging |
Het |
Pkd1 |
T |
A |
17: 24,812,478 (GRCm39) |
Y3804N |
probably damaging |
Het |
Pramel16 |
T |
A |
4: 143,677,585 (GRCm39) |
|
probably benign |
Het |
Prr14l |
A |
G |
5: 32,985,526 (GRCm39) |
I1323T |
possibly damaging |
Het |
Pyroxd2 |
T |
C |
19: 42,719,781 (GRCm39) |
E475G |
probably benign |
Het |
Ros1 |
T |
C |
10: 52,001,985 (GRCm39) |
K1046E |
probably damaging |
Het |
Sema7a |
C |
T |
9: 57,867,631 (GRCm39) |
A461V |
probably benign |
Het |
Slc30a2 |
T |
A |
4: 134,071,360 (GRCm39) |
I31N |
possibly damaging |
Het |
Srebf1 |
C |
A |
11: 60,092,539 (GRCm39) |
|
probably null |
Het |
Tmem130 |
A |
G |
5: 144,680,433 (GRCm39) |
Y324H |
probably damaging |
Het |
Ttn |
G |
A |
2: 76,601,602 (GRCm39) |
T18654I |
probably benign |
Het |
Vmn2r6 |
T |
A |
3: 64,463,917 (GRCm39) |
T306S |
probably damaging |
Het |
|
Other mutations in Srms |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00914:Srms
|
APN |
2 |
180,849,565 (GRCm39) |
missense |
probably benign |
0.02 |
IGL01084:Srms
|
APN |
2 |
180,848,177 (GRCm39) |
splice site |
probably null |
|
IGL01086:Srms
|
APN |
2 |
180,854,216 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02749:Srms
|
APN |
2 |
180,851,302 (GRCm39) |
missense |
possibly damaging |
0.58 |
IGL02986:Srms
|
APN |
2 |
180,854,290 (GRCm39) |
missense |
possibly damaging |
0.73 |
IGL03180:Srms
|
APN |
2 |
180,854,573 (GRCm39) |
utr 5 prime |
probably benign |
|
R0226:Srms
|
UTSW |
2 |
180,854,175 (GRCm39) |
missense |
probably benign |
0.00 |
R0685:Srms
|
UTSW |
2 |
180,854,426 (GRCm39) |
missense |
probably benign |
0.00 |
R2171:Srms
|
UTSW |
2 |
180,850,573 (GRCm39) |
nonsense |
probably null |
|
R5808:Srms
|
UTSW |
2 |
180,850,548 (GRCm39) |
missense |
probably benign |
0.02 |
R6112:Srms
|
UTSW |
2 |
180,849,780 (GRCm39) |
nonsense |
probably null |
|
R6277:Srms
|
UTSW |
2 |
180,848,038 (GRCm39) |
missense |
possibly damaging |
0.58 |
R6572:Srms
|
UTSW |
2 |
180,854,450 (GRCm39) |
missense |
probably benign |
|
R6737:Srms
|
UTSW |
2 |
180,851,253 (GRCm39) |
missense |
probably damaging |
1.00 |
R8069:Srms
|
UTSW |
2 |
180,848,751 (GRCm39) |
missense |
probably damaging |
1.00 |
R8264:Srms
|
UTSW |
2 |
180,854,343 (GRCm39) |
missense |
probably benign |
0.10 |
R8700:Srms
|
UTSW |
2 |
180,848,521 (GRCm39) |
missense |
probably damaging |
1.00 |
R9110:Srms
|
UTSW |
2 |
180,848,050 (GRCm39) |
missense |
|
|
|
Posted On |
2015-12-18 |