Incidental Mutation 'IGL00156:Srrm4'
ID |
1634 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Srrm4
|
Ensembl Gene |
ENSMUSG00000063919 |
Gene Name |
serine/arginine repetitive matrix 4 |
Synonyms |
1500001A10Rik, nSR100, flopsy, B230202K19Rik, fp, bv |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.249)
|
Stock # |
IGL00156
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
116577334-116729876 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 116584616 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 485
(S485P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000075488
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076124]
[ENSMUST00000139425]
|
AlphaFold |
Q8BKA3 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000076124
AA Change: S485P
PolyPhen 2
Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000075488 Gene: ENSMUSG00000063919 AA Change: S485P
Domain | Start | End | E-Value | Type |
low complexity region
|
102 |
202 |
N/A |
INTRINSIC |
low complexity region
|
289 |
299 |
N/A |
INTRINSIC |
Pfam:SRRM_C
|
455 |
518 |
4e-28 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126959
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133548
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000139425
|
SMART Domains |
Protein: ENSMUSP00000144367 Gene: ENSMUSG00000063919
Domain | Start | End | E-Value | Type |
Pfam:SRRM_C
|
1 |
30 |
1.2e-16 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150127
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000222119
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SRRM4 promotes alternative splicing and inclusion of neural-specific exons in target mRNAs (Calarco et al., 2009 [PubMed 19737518]).[supplied by OMIM, Oct 2009] PHENOTYPE: Most homozygous null mice die neonatally with respiratory defects while survivors show tremors, head tilt, circling, premature neurogenesis, altered neurite outgrowth, cortical layering and axon guidance. Homozygotes for a spontaneous deletion show inner ear hair cell, balance and hearing defects. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca4 |
G |
A |
3: 121,856,353 (GRCm39) |
|
probably null |
Het |
Adamts19 |
T |
A |
18: 59,157,537 (GRCm39) |
V943E |
probably damaging |
Het |
C530025M09Rik |
C |
A |
2: 149,672,646 (GRCm39) |
|
probably benign |
Het |
Cep192 |
T |
G |
18: 67,953,407 (GRCm39) |
W475G |
probably damaging |
Het |
Col28a1 |
T |
C |
6: 8,014,795 (GRCm39) |
Y870C |
probably damaging |
Het |
Cyp2a22 |
A |
T |
7: 26,637,163 (GRCm39) |
M207K |
probably benign |
Het |
Dpm1 |
A |
G |
2: 168,052,495 (GRCm39) |
V247A |
probably benign |
Het |
Glt1d1 |
T |
C |
5: 127,709,349 (GRCm39) |
M1T |
probably null |
Het |
Gm9507 |
A |
T |
10: 77,647,114 (GRCm39) |
C188* |
probably null |
Het |
Hectd4 |
T |
C |
5: 121,501,933 (GRCm39) |
V4222A |
possibly damaging |
Het |
Igkv3-3 |
T |
A |
6: 70,664,397 (GRCm39) |
S80T |
possibly damaging |
Het |
Lrrc49 |
T |
C |
9: 60,508,603 (GRCm39) |
K520E |
probably damaging |
Het |
Ltbp1 |
A |
T |
17: 75,692,155 (GRCm39) |
Y1273F |
probably damaging |
Het |
Lyst |
T |
A |
13: 13,823,463 (GRCm39) |
H1478Q |
probably benign |
Het |
Mre11a |
A |
G |
9: 14,736,504 (GRCm39) |
D518G |
probably benign |
Het |
Or1e22 |
T |
A |
11: 73,377,398 (GRCm39) |
N84I |
probably benign |
Het |
Or4a71 |
C |
T |
2: 89,358,551 (GRCm39) |
D68N |
probably damaging |
Het |
Or7e168 |
T |
C |
9: 19,719,692 (GRCm39) |
I26T |
probably benign |
Het |
Pkd1l1 |
T |
A |
11: 8,900,515 (GRCm39) |
S9C |
probably damaging |
Het |
Prrc2b |
A |
G |
2: 32,098,731 (GRCm39) |
H681R |
probably damaging |
Het |
Rapgef1 |
A |
G |
2: 29,612,281 (GRCm39) |
S644G |
probably benign |
Het |
Sgce |
T |
A |
6: 4,689,750 (GRCm39) |
H361L |
probably damaging |
Het |
Specc1 |
G |
T |
11: 62,008,835 (GRCm39) |
W117L |
probably benign |
Het |
Traf2 |
G |
T |
2: 25,410,463 (GRCm39) |
Y395* |
probably null |
Het |
Trf |
A |
G |
9: 103,098,156 (GRCm39) |
I34T |
probably benign |
Het |
Vdac2 |
T |
C |
14: 21,888,592 (GRCm39) |
Y165H |
possibly damaging |
Het |
Wwp1 |
T |
C |
4: 19,650,360 (GRCm39) |
T269A |
probably benign |
Het |
|
Other mutations in Srrm4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01291:Srrm4
|
APN |
5 |
116,605,628 (GRCm39) |
missense |
unknown |
|
IGL01873:Srrm4
|
APN |
5 |
116,729,527 (GRCm39) |
utr 5 prime |
probably benign |
|
IGL02553:Srrm4
|
APN |
5 |
116,582,624 (GRCm39) |
unclassified |
probably benign |
|
IGL03090:Srrm4
|
APN |
5 |
116,587,643 (GRCm39) |
utr 3 prime |
probably benign |
|
ANU05:Srrm4
|
UTSW |
5 |
116,605,628 (GRCm39) |
missense |
unknown |
|
R0285:Srrm4
|
UTSW |
5 |
116,605,848 (GRCm39) |
unclassified |
probably benign |
|
R0386:Srrm4
|
UTSW |
5 |
116,620,437 (GRCm39) |
splice site |
probably benign |
|
R0825:Srrm4
|
UTSW |
5 |
116,591,772 (GRCm39) |
missense |
unknown |
|
R0845:Srrm4
|
UTSW |
5 |
116,582,944 (GRCm39) |
splice site |
probably null |
|
R1615:Srrm4
|
UTSW |
5 |
116,585,359 (GRCm39) |
unclassified |
probably benign |
|
R1874:Srrm4
|
UTSW |
5 |
116,591,565 (GRCm39) |
utr 3 prime |
probably benign |
|
R2037:Srrm4
|
UTSW |
5 |
116,605,887 (GRCm39) |
unclassified |
probably benign |
|
R3522:Srrm4
|
UTSW |
5 |
116,584,603 (GRCm39) |
start codon destroyed |
probably null |
|
R3968:Srrm4
|
UTSW |
5 |
116,582,803 (GRCm39) |
unclassified |
probably benign |
|
R4507:Srrm4
|
UTSW |
5 |
116,584,612 (GRCm39) |
missense |
probably damaging |
0.98 |
R4771:Srrm4
|
UTSW |
5 |
116,613,234 (GRCm39) |
critical splice donor site |
probably null |
|
R4815:Srrm4
|
UTSW |
5 |
116,613,249 (GRCm39) |
missense |
unknown |
|
R4817:Srrm4
|
UTSW |
5 |
116,615,193 (GRCm39) |
missense |
unknown |
|
R5383:Srrm4
|
UTSW |
5 |
116,609,319 (GRCm39) |
unclassified |
probably benign |
|
R5620:Srrm4
|
UTSW |
5 |
116,587,672 (GRCm39) |
utr 3 prime |
probably benign |
|
R5639:Srrm4
|
UTSW |
5 |
116,729,418 (GRCm39) |
missense |
unknown |
|
R6497:Srrm4
|
UTSW |
5 |
116,605,550 (GRCm39) |
missense |
unknown |
|
R7029:Srrm4
|
UTSW |
5 |
116,582,851 (GRCm39) |
unclassified |
probably benign |
|
R7166:Srrm4
|
UTSW |
5 |
116,609,301 (GRCm39) |
missense |
unknown |
|
R7514:Srrm4
|
UTSW |
5 |
116,584,570 (GRCm39) |
missense |
probably damaging |
0.98 |
R8187:Srrm4
|
UTSW |
5 |
116,587,680 (GRCm39) |
missense |
unknown |
|
R8309:Srrm4
|
UTSW |
5 |
116,729,626 (GRCm39) |
start gained |
probably benign |
|
R8391:Srrm4
|
UTSW |
5 |
116,582,755 (GRCm39) |
missense |
unknown |
|
R8685:Srrm4
|
UTSW |
5 |
116,585,380 (GRCm39) |
missense |
unknown |
|
R8750:Srrm4
|
UTSW |
5 |
116,605,567 (GRCm39) |
missense |
unknown |
|
R9019:Srrm4
|
UTSW |
5 |
116,605,586 (GRCm39) |
missense |
unknown |
|
R9102:Srrm4
|
UTSW |
5 |
116,620,563 (GRCm39) |
missense |
unknown |
|
R9676:Srrm4
|
UTSW |
5 |
116,584,781 (GRCm39) |
unclassified |
probably benign |
|
R9712:Srrm4
|
UTSW |
5 |
116,620,452 (GRCm39) |
missense |
unknown |
|
Z1176:Srrm4
|
UTSW |
5 |
116,591,478 (GRCm39) |
nonsense |
probably null |
|
Z1177:Srrm4
|
UTSW |
5 |
116,591,695 (GRCm39) |
missense |
unknown |
|
|
Posted On |
2011-07-12 |