Incidental Mutation 'R6497:Srrm4'
ID |
523057 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Srrm4
|
Ensembl Gene |
ENSMUSG00000063919 |
Gene Name |
serine/arginine repetitive matrix 4 |
Synonyms |
1500001A10Rik, nSR100, flopsy, B230202K19Rik, fp, bv |
MMRRC Submission |
044629-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.249)
|
Stock # |
R6497 (G1)
|
Quality Score |
198.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
116577334-116729876 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 116605550 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 236
(S236T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000075488
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076124]
|
AlphaFold |
Q8BKA3 |
Predicted Effect |
unknown
Transcript: ENSMUST00000076124
AA Change: S236T
|
SMART Domains |
Protein: ENSMUSP00000075488 Gene: ENSMUSG00000063919 AA Change: S236T
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 |
unknown
Transcript: ENSMUST00000222119
AA Change: S33T
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.5%
|
Validation Efficiency |
98% (42/43) |
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc2 |
T |
A |
19: 43,793,544 (GRCm39) |
Y399N |
probably damaging |
Het |
Acsm3 |
G |
A |
7: 119,379,972 (GRCm39) |
|
probably null |
Het |
Aldh16a1 |
T |
A |
7: 44,794,361 (GRCm39) |
S556C |
possibly damaging |
Het |
Armc7 |
T |
C |
11: 115,367,077 (GRCm39) |
I74T |
probably benign |
Het |
Atp13a4 |
T |
C |
16: 29,298,719 (GRCm39) |
D80G |
probably damaging |
Het |
Bicral |
A |
T |
17: 47,136,499 (GRCm39) |
I237K |
probably damaging |
Het |
Caskin1 |
T |
C |
17: 24,723,522 (GRCm39) |
V770A |
probably benign |
Het |
Cd209c |
T |
C |
8: 3,994,122 (GRCm39) |
K113E |
possibly damaging |
Het |
Cdh20 |
G |
A |
1: 109,993,528 (GRCm39) |
|
probably null |
Het |
Clca3a1 |
A |
T |
3: 144,465,020 (GRCm39) |
V71D |
possibly damaging |
Het |
Cntnap5a |
T |
C |
1: 116,505,627 (GRCm39) |
L1228P |
probably damaging |
Het |
Cntrl |
A |
G |
2: 35,025,584 (GRCm39) |
N85D |
possibly damaging |
Het |
Coch |
G |
A |
12: 51,649,504 (GRCm39) |
V272M |
probably benign |
Het |
Col22a1 |
T |
C |
15: 71,762,425 (GRCm39) |
E78G |
possibly damaging |
Het |
Cyp2c66 |
T |
A |
19: 39,151,821 (GRCm39) |
C179S |
probably damaging |
Het |
Dsg3 |
A |
G |
18: 20,670,305 (GRCm39) |
I681V |
probably benign |
Het |
Egflam |
A |
T |
15: 7,280,784 (GRCm39) |
|
probably null |
Het |
Fut10 |
T |
A |
8: 31,726,278 (GRCm39) |
D344E |
probably damaging |
Het |
Gad2 |
C |
T |
2: 22,558,269 (GRCm39) |
P329L |
probably damaging |
Het |
Gm14393 |
T |
C |
2: 174,903,427 (GRCm39) |
E160G |
possibly damaging |
Het |
Gprc6a |
T |
C |
10: 51,491,797 (GRCm39) |
I476V |
probably benign |
Het |
Limk2 |
A |
G |
11: 3,310,492 (GRCm39) |
F71L |
probably benign |
Het |
Neb |
A |
T |
2: 52,148,301 (GRCm39) |
N2648K |
possibly damaging |
Het |
Or51f5 |
T |
A |
7: 102,424,657 (GRCm39) |
F309I |
probably benign |
Het |
Or52d1 |
T |
C |
7: 103,756,422 (GRCm39) |
|
probably benign |
Het |
Or8d1b |
G |
A |
9: 38,887,490 (GRCm39) |
V173I |
probably benign |
Het |
Pcdhgb7 |
T |
A |
18: 37,886,906 (GRCm39) |
V692E |
probably damaging |
Het |
Pclo |
A |
C |
5: 14,843,869 (GRCm39) |
K4802Q |
unknown |
Het |
Primpol |
A |
T |
8: 47,039,376 (GRCm39) |
|
probably null |
Het |
Prr14 |
C |
T |
7: 127,073,750 (GRCm39) |
R205C |
probably benign |
Het |
Rbm12b1 |
T |
C |
4: 12,146,431 (GRCm39) |
I801T |
probably benign |
Het |
Ror2 |
A |
T |
13: 53,285,955 (GRCm39) |
N86K |
probably damaging |
Het |
Rsf1 |
G |
GACGGCGGCT |
7: 97,229,116 (GRCm39) |
|
probably benign |
Het |
Sh2d4b |
A |
G |
14: 40,596,139 (GRCm39) |
V81A |
probably benign |
Het |
Skint6 |
A |
G |
4: 113,093,595 (GRCm39) |
Y183H |
probably damaging |
Het |
Snapc3 |
G |
T |
4: 83,371,363 (GRCm39) |
E388* |
probably null |
Het |
Srrt |
G |
T |
5: 137,295,768 (GRCm39) |
P193H |
probably damaging |
Het |
Sspo |
A |
T |
6: 48,472,142 (GRCm39) |
T810S |
possibly damaging |
Het |
Stk36 |
A |
G |
1: 74,642,391 (GRCm39) |
H6R |
probably damaging |
Het |
Tiam2 |
A |
G |
17: 3,557,102 (GRCm39) |
T1181A |
probably damaging |
Het |
Tmem184a |
A |
G |
5: 139,798,755 (GRCm39) |
F65L |
probably damaging |
Het |
Vwa8 |
A |
G |
14: 79,333,841 (GRCm39) |
I1330M |
probably benign |
Het |
Zfp827 |
T |
A |
8: 79,906,757 (GRCm39) |
M923K |
probably damaging |
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 |
|
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 |
|
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- GAGCCAGTGGGGAATTTTACC -3'
(R):5'- GCTTCTGTCCCACAATGAGTAG -3'
Sequencing Primer
(F):5'- ACCCAGAACTGAATTAAAAGGTATC -3'
(R):5'- TGTCCCACAATGAGTAGCTCCTAAC -3'
|
Posted On |
2018-06-06 |