Incidental Mutation 'IGL01873:Srrm4'
| ID |
178795 |
| 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? |
Possibly non essential
(E-score: 0.275)
|
| Stock # |
IGL01873
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
116577334-116729876 bp(-) (GRCm39) |
| Type of Mutation |
utr 5 prime |
| DNA Base Change (assembly) |
G to T
at 116729527 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075488
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076124]
|
| AlphaFold |
Q8BKA3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000076124
|
| SMART Domains |
Protein: ENSMUSP00000075488
Gene: ENSMUSG00000063919
| 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 |
|
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Chd9 |
A |
G |
8: 91,660,395 (GRCm39) |
T452A |
probably benign |
Het |
| Coq8a |
T |
A |
1: 180,006,542 (GRCm39) |
Q115L |
probably damaging |
Het |
| Cul9 |
T |
C |
17: 46,813,378 (GRCm39) |
E2326G |
probably damaging |
Het |
| Cyp2c69 |
A |
G |
19: 39,869,693 (GRCm39) |
|
probably benign |
Het |
| Dennd5b |
A |
T |
6: 148,946,027 (GRCm39) |
M528K |
probably benign |
Het |
| Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Gm5862 |
A |
C |
5: 26,227,769 (GRCm39) |
W41G |
probably benign |
Het |
| Gm6665 |
T |
C |
18: 31,953,355 (GRCm39) |
S38G |
probably damaging |
Het |
| Gsg1l |
A |
G |
7: 125,557,615 (GRCm39) |
V171A |
probably damaging |
Het |
| Ighv5-2 |
A |
T |
12: 113,542,350 (GRCm39) |
S42T |
probably benign |
Het |
| Itch |
C |
T |
2: 155,010,670 (GRCm39) |
T46I |
possibly damaging |
Het |
| Itsn2 |
T |
G |
12: 4,682,366 (GRCm39) |
|
probably benign |
Het |
| Lime1 |
T |
C |
2: 181,024,667 (GRCm39) |
V107A |
probably benign |
Het |
| Mertk |
T |
C |
2: 128,571,195 (GRCm39) |
S50P |
possibly damaging |
Het |
| Myo5b |
T |
A |
18: 74,713,467 (GRCm39) |
V104E |
probably damaging |
Het |
| Nckap1 |
A |
T |
2: 80,383,729 (GRCm39) |
I145K |
possibly damaging |
Het |
| Ppp4r3a |
A |
T |
12: 101,008,094 (GRCm39) |
I794N |
possibly damaging |
Het |
| Psapl1 |
C |
A |
5: 36,362,569 (GRCm39) |
P387Q |
possibly damaging |
Het |
| Ripk1 |
T |
A |
13: 34,193,707 (GRCm39) |
L23Q |
probably damaging |
Het |
| St6galnac1 |
T |
A |
11: 116,657,437 (GRCm39) |
T376S |
probably damaging |
Het |
| Tmem74 |
T |
C |
15: 43,730,782 (GRCm39) |
D87G |
probably benign |
Het |
| Trav19 |
A |
G |
14: 54,083,173 (GRCm39) |
R83G |
probably benign |
Het |
| Tubgcp4 |
T |
C |
2: 121,018,665 (GRCm39) |
|
probably null |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Zfat |
T |
C |
15: 68,096,744 (GRCm39) |
N23S |
probably benign |
Het |
|
| Other mutations in Srrm4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00156:Srrm4
|
APN |
5 |
116,584,616 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL01291:Srrm4
|
APN |
5 |
116,605,628 (GRCm39) |
missense |
unknown |
|
|
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 |
2014-05-07 |
Incidental Mutation