Incidental Mutation 'R0845:Srrm4'
ID |
77316 |
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 |
039024-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.249)
|
Stock # |
R0845 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
116577334-116729876 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
C to T
at 116582944 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144367
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076124]
[ENSMUST00000076124]
[ENSMUST00000076124]
[ENSMUST00000076124]
[ENSMUST00000139425]
[ENSMUST00000139425]
[ENSMUST00000139425]
[ENSMUST00000139425]
[ENSMUST00000139425]
[ENSMUST00000139425]
[ENSMUST00000139425]
[ENSMUST00000139425]
|
AlphaFold |
Q8BKA3 |
Predicted Effect |
probably null
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 |
|
Predicted Effect |
probably null
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 |
|
Predicted Effect |
probably null
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 |
|
Predicted Effect |
probably null
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 |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000122954
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126959
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133548
|
Predicted Effect |
probably null
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 |
probably null
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 |
probably null
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 |
probably null
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 |
probably null
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 |
probably null
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 |
probably null
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 |
probably null
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
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 96.9%
- 20x: 93.2%
|
Validation Efficiency |
96% (45/47) |
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actn4 |
G |
T |
7: 28,612,855 (GRCm39) |
A116E |
probably damaging |
Het |
Adamtsl3 |
A |
G |
7: 82,225,204 (GRCm39) |
I338V |
probably damaging |
Het |
Akap13 |
T |
G |
7: 75,375,128 (GRCm39) |
V1920G |
probably damaging |
Het |
Atp6v0d2 |
C |
T |
4: 19,880,055 (GRCm39) |
V281I |
probably benign |
Het |
AW209491 |
T |
G |
13: 14,811,607 (GRCm39) |
S153R |
probably damaging |
Het |
Brd7 |
A |
T |
8: 89,069,395 (GRCm39) |
Y433* |
probably null |
Het |
Bub1b |
A |
G |
2: 118,440,457 (GRCm39) |
H187R |
probably damaging |
Het |
Clstn2 |
T |
A |
9: 97,452,681 (GRCm39) |
Q242L |
probably benign |
Het |
Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
Comt |
T |
C |
16: 18,226,711 (GRCm39) |
Y225C |
probably damaging |
Het |
Ctbs |
T |
A |
3: 146,160,862 (GRCm39) |
L143Q |
probably damaging |
Het |
Ctsw |
T |
C |
19: 5,515,489 (GRCm39) |
|
probably benign |
Het |
Dhx16 |
T |
C |
17: 36,194,194 (GRCm39) |
I435T |
probably damaging |
Het |
Dmxl1 |
T |
C |
18: 50,026,469 (GRCm39) |
F1859S |
probably damaging |
Het |
Glud1 |
A |
G |
14: 34,051,351 (GRCm39) |
|
probably benign |
Het |
Gm8220 |
A |
G |
14: 44,524,248 (GRCm39) |
H71R |
probably damaging |
Het |
Gnb1l |
A |
G |
16: 18,371,223 (GRCm39) |
E238G |
probably benign |
Het |
H2-T23 |
T |
C |
17: 36,341,475 (GRCm39) |
H332R |
probably benign |
Het |
Itga5 |
T |
A |
15: 103,259,196 (GRCm39) |
T744S |
probably benign |
Het |
Larp1 |
A |
G |
11: 57,938,576 (GRCm39) |
E453G |
probably benign |
Het |
Lrrk2 |
C |
A |
15: 91,640,165 (GRCm39) |
P1570Q |
probably benign |
Het |
Lrsam1 |
C |
T |
2: 32,843,455 (GRCm39) |
R150Q |
possibly damaging |
Het |
Mroh2a |
A |
G |
1: 88,186,386 (GRCm39) |
S64G |
probably benign |
Het |
Msln |
T |
C |
17: 25,969,770 (GRCm39) |
Y320C |
probably damaging |
Het |
Mtbp |
T |
C |
15: 55,426,486 (GRCm39) |
|
probably null |
Het |
Muc5b |
A |
G |
7: 141,404,183 (GRCm39) |
|
probably null |
Het |
Mup21 |
A |
G |
4: 62,068,547 (GRCm39) |
S40P |
probably damaging |
Het |
Myh8 |
T |
C |
11: 67,177,090 (GRCm39) |
V414A |
probably damaging |
Het |
P2rx5 |
T |
C |
11: 73,056,400 (GRCm39) |
I108T |
probably damaging |
Het |
Paqr9 |
T |
C |
9: 95,442,793 (GRCm39) |
L261P |
probably damaging |
Het |
Pde5a |
A |
G |
3: 122,522,980 (GRCm39) |
D29G |
probably benign |
Het |
Phf11d |
A |
T |
14: 59,590,793 (GRCm39) |
M188K |
possibly damaging |
Het |
Pih1d1 |
A |
G |
7: 44,809,106 (GRCm39) |
D230G |
probably benign |
Het |
Pik3r1 |
G |
T |
13: 101,822,772 (GRCm39) |
D643E |
probably benign |
Het |
Rnf207 |
A |
G |
4: 152,396,521 (GRCm39) |
|
probably benign |
Het |
Septin9 |
T |
C |
11: 117,247,151 (GRCm39) |
|
probably benign |
Het |
Serinc1 |
A |
T |
10: 57,401,479 (GRCm39) |
S105T |
probably benign |
Het |
Slc8a1 |
A |
G |
17: 81,745,177 (GRCm39) |
S676P |
probably benign |
Het |
Tcn2 |
T |
A |
11: 3,869,349 (GRCm39) |
D391V |
probably benign |
Het |
Tmem131 |
T |
C |
1: 36,855,303 (GRCm39) |
T808A |
probably damaging |
Het |
Ubqln3 |
G |
T |
7: 103,791,275 (GRCm39) |
Q272K |
probably damaging |
Het |
Unc79 |
T |
C |
12: 103,139,703 (GRCm39) |
|
probably benign |
Het |
Xpo6 |
G |
A |
7: 125,728,715 (GRCm39) |
|
probably benign |
Het |
Zfp667 |
A |
T |
7: 6,309,091 (GRCm39) |
K586N |
possibly 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 |
|
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- ACTCCGGCTCCGGGAGTAACTG -3'
(R):5'- TCCCTGCATCTAGGCATCCATGAG -3'
Sequencing Primer
(F):5'- GTAACTGCGGCTAGGGG -3'
(R):5'- aatcaaagtggcaacgcag -3'
|
Posted On |
2013-10-16 |