Incidental Mutation 'R5639:Srrm4'
ID |
440536 |
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 |
043288-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.275)
|
Stock # |
R5639 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
116577334-116729876 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 116729418 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 36
(I36F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000075488
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076124]
|
AlphaFold |
Q8BKA3 |
Predicted Effect |
unknown
Transcript: ENSMUST00000076124
AA Change: I36F
|
SMART Domains |
Protein: ENSMUSP00000075488 Gene: ENSMUSG00000063919 AA Change: I36F
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 |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.7%
|
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aars1 |
T |
C |
8: 111,769,866 (GRCm39) |
Y322H |
probably benign |
Het |
Aldh1a1 |
C |
A |
19: 20,600,786 (GRCm39) |
T201K |
probably damaging |
Het |
Ankrd26 |
T |
C |
6: 118,516,685 (GRCm39) |
E493G |
possibly damaging |
Het |
Armc8 |
A |
G |
9: 99,378,202 (GRCm39) |
|
probably null |
Het |
Bicc1 |
A |
T |
10: 70,776,350 (GRCm39) |
V701E |
probably damaging |
Het |
Car11 |
T |
A |
7: 45,352,045 (GRCm39) |
|
probably null |
Het |
Ccn1 |
A |
C |
3: 145,354,452 (GRCm39) |
V153G |
probably damaging |
Het |
Celsr1 |
C |
G |
15: 85,914,968 (GRCm39) |
V1002L |
probably damaging |
Het |
Clpx |
T |
A |
9: 65,237,112 (GRCm39) |
S597T |
probably benign |
Het |
Cplx3 |
A |
T |
9: 57,519,149 (GRCm39) |
F266I |
probably benign |
Het |
Dmpk |
A |
G |
7: 18,826,525 (GRCm39) |
M545V |
probably benign |
Het |
Dnah7c |
C |
G |
1: 46,778,828 (GRCm39) |
D3139E |
probably benign |
Het |
Drd5 |
T |
A |
5: 38,477,178 (GRCm39) |
V57D |
possibly damaging |
Het |
Epc2 |
A |
G |
2: 49,341,903 (GRCm39) |
N29S |
possibly damaging |
Het |
Ercc3 |
T |
C |
18: 32,398,767 (GRCm39) |
V682A |
probably damaging |
Het |
Fam186a |
T |
C |
15: 99,844,931 (GRCm39) |
K438E |
unknown |
Het |
Farp1 |
T |
A |
14: 121,512,794 (GRCm39) |
I764N |
probably damaging |
Het |
Flvcr2 |
A |
T |
12: 85,794,250 (GRCm39) |
I209F |
probably benign |
Het |
Fndc3b |
C |
T |
3: 27,480,302 (GRCm39) |
V1065M |
probably damaging |
Het |
Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
Gp6 |
C |
A |
7: 4,397,130 (GRCm39) |
D102Y |
probably damaging |
Het |
Gpc5 |
T |
C |
14: 115,330,179 (GRCm39) |
L114P |
probably benign |
Het |
Kcnq3 |
T |
A |
15: 65,869,599 (GRCm39) |
E613V |
probably damaging |
Het |
Krt74 |
T |
G |
15: 101,665,195 (GRCm39) |
|
noncoding transcript |
Het |
Lipe |
T |
C |
7: 25,082,750 (GRCm39) |
T801A |
probably benign |
Het |
Lrp1 |
A |
G |
10: 127,429,708 (GRCm39) |
V454A |
probably damaging |
Het |
Lsm14a |
T |
C |
7: 34,052,935 (GRCm39) |
D338G |
probably damaging |
Het |
Mctp1 |
T |
C |
13: 77,172,902 (GRCm39) |
|
silent |
Het |
Nlrp4a |
G |
A |
7: 26,156,455 (GRCm39) |
A727T |
probably benign |
Het |
Nrgn |
T |
C |
9: 37,457,344 (GRCm39) |
S48G |
probably benign |
Het |
Oga |
A |
G |
19: 45,765,438 (GRCm39) |
I123T |
probably damaging |
Het |
Or10k2 |
T |
C |
8: 84,267,973 (GRCm39) |
S67P |
probably damaging |
Het |
Or4a73 |
T |
C |
2: 89,421,069 (GRCm39) |
Y130C |
probably damaging |
Het |
Or51f23 |
A |
G |
7: 102,453,200 (GRCm39) |
S172G |
probably benign |
Het |
Pdia6 |
A |
G |
12: 17,328,594 (GRCm39) |
E183G |
probably benign |
Het |
Pign |
T |
A |
1: 105,517,040 (GRCm39) |
I529F |
probably benign |
Het |
Plscr5 |
A |
T |
9: 92,087,564 (GRCm39) |
K178* |
probably null |
Het |
Samm50 |
T |
G |
15: 84,098,329 (GRCm39) |
I456S |
probably benign |
Het |
Sesn1 |
A |
G |
10: 41,687,267 (GRCm39) |
R84G |
probably benign |
Het |
Skint8 |
C |
A |
4: 111,807,390 (GRCm39) |
L359M |
probably damaging |
Het |
Spag17 |
G |
T |
3: 99,963,482 (GRCm39) |
D1067Y |
probably damaging |
Het |
Sptan1 |
C |
T |
2: 29,881,005 (GRCm39) |
Q425* |
probably null |
Het |
Tas1r2 |
A |
T |
4: 139,387,107 (GRCm39) |
S189C |
probably damaging |
Het |
Tep1 |
A |
G |
14: 51,091,062 (GRCm39) |
V690A |
possibly damaging |
Het |
Trmo |
T |
C |
4: 46,382,073 (GRCm39) |
K348R |
probably benign |
Het |
Trmu |
T |
A |
15: 85,766,899 (GRCm39) |
M36K |
probably damaging |
Het |
Ubr4 |
A |
G |
4: 139,179,959 (GRCm39) |
T3380A |
possibly damaging |
Het |
Unc79 |
A |
C |
12: 103,137,831 (GRCm39) |
T2425P |
probably damaging |
Het |
Vmn2r12 |
G |
A |
5: 109,240,666 (GRCm39) |
T149I |
probably benign |
Het |
Vwa3a |
A |
C |
7: 120,389,366 (GRCm39) |
K68T |
probably damaging |
Het |
Yif1a |
T |
C |
19: 5,138,778 (GRCm39) |
|
probably null |
Het |
Zbtb44 |
A |
T |
9: 30,965,348 (GRCm39) |
T253S |
probably damaging |
Het |
Zdhhc3 |
T |
C |
9: 122,929,410 (GRCm39) |
Y75C |
probably damaging |
Het |
Zfp189 |
T |
A |
4: 49,530,153 (GRCm39) |
F419I |
probably benign |
Het |
Zfp663 |
T |
C |
2: 165,194,929 (GRCm39) |
D430G |
probably benign |
Het |
Zfp709 |
T |
G |
8: 72,643,835 (GRCm39) |
|
probably null |
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 |
|
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- TAGGAGTGTTGTTCCCCGTC -3'
(R):5'- CGGGTTTGTAATCCACGTTTCAG -3'
Sequencing Primer
(F):5'- CAAGCGATAATTTCTCATGTTCCGG -3'
(R):5'- ACGTTTCAGCACTTCGGACAG -3'
|
Posted On |
2016-11-08 |