Incidental Mutation 'R7029:Srrm4'
| ID |
546176 |
| 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 |
045130-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.249)
|
| Stock # |
R7029 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
116577334-116729876 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to A
at 116582851 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076124]
[ENSMUST00000139425]
|
| AlphaFold |
Q8BKA3 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000076124
AA Change: S535C
|
| SMART Domains |
Protein: ENSMUSP00000075488
Gene: ENSMUSG00000063919
AA Change: S535C
| 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 |
unknown
Transcript: ENSMUST00000139425
AA Change: S47C
|
| SMART Domains |
Protein: ENSMUSP00000144367
Gene: ENSMUSG00000063919
AA Change: S47C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SRRM_C
|
1 |
30 |
1.2e-16 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222119
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700034J05Rik |
T |
C |
6: 146,853,841 (GRCm39) |
Q271R |
probably benign |
Het |
| Abhd4 |
T |
A |
14: 54,500,164 (GRCm39) |
W63R |
probably damaging |
Het |
| Adcy5 |
A |
G |
16: 35,120,018 (GRCm39) |
M1176V |
probably null |
Het |
| Bach1 |
G |
A |
16: 87,516,179 (GRCm39) |
R240Q |
probably benign |
Het |
| Brox |
G |
A |
1: 183,065,750 (GRCm39) |
P206L |
possibly damaging |
Het |
| Ccn3 |
A |
G |
15: 54,611,171 (GRCm39) |
D102G |
possibly damaging |
Het |
| Def6 |
A |
G |
17: 28,444,943 (GRCm39) |
K447R |
probably benign |
Het |
| Dna2 |
T |
C |
10: 62,799,773 (GRCm39) |
S726P |
probably damaging |
Het |
| Ell |
G |
A |
8: 71,031,879 (GRCm39) |
V15I |
probably damaging |
Het |
| Entrep2 |
T |
A |
7: 64,409,075 (GRCm39) |
T440S |
probably benign |
Het |
| Epha3 |
T |
A |
16: 63,593,698 (GRCm39) |
D130V |
probably benign |
Het |
| Gys1 |
A |
G |
7: 45,089,008 (GRCm39) |
T200A |
possibly damaging |
Het |
| Habp4 |
A |
T |
13: 64,309,939 (GRCm39) |
H47L |
probably benign |
Het |
| Iqcn |
G |
T |
8: 71,161,511 (GRCm39) |
V235L |
possibly damaging |
Het |
| Kcnj10 |
C |
A |
1: 172,196,563 (GRCm39) |
R26S |
probably benign |
Het |
| Klhl1 |
T |
A |
14: 96,755,632 (GRCm39) |
D41V |
probably benign |
Het |
| Lyn |
A |
G |
4: 3,782,996 (GRCm39) |
T410A |
probably damaging |
Het |
| Mga |
A |
G |
2: 119,754,031 (GRCm39) |
T847A |
probably damaging |
Het |
| Mrgpra3 |
G |
T |
7: 47,239,290 (GRCm39) |
T212N |
probably benign |
Het |
| Myh4 |
T |
C |
11: 67,137,251 (GRCm39) |
F491L |
probably benign |
Het |
| Neurl4 |
T |
A |
11: 69,801,562 (GRCm39) |
I1206N |
probably damaging |
Het |
| Pcdhb15 |
T |
A |
18: 37,608,621 (GRCm39) |
W618R |
possibly damaging |
Het |
| Pomc |
A |
G |
12: 4,010,146 (GRCm39) |
H129R |
probably damaging |
Het |
| Ppm1l |
C |
A |
3: 69,460,399 (GRCm39) |
H325Q |
probably benign |
Het |
| Psme4 |
A |
G |
11: 30,722,474 (GRCm39) |
|
probably benign |
Het |
| Reep2 |
A |
G |
18: 34,978,342 (GRCm39) |
I74V |
probably null |
Het |
| Robo2 |
T |
G |
16: 73,745,225 (GRCm39) |
E850A |
probably damaging |
Het |
| Scrn2 |
T |
A |
11: 96,921,262 (GRCm39) |
|
probably benign |
Het |
| Sfpq |
G |
A |
4: 126,923,675 (GRCm39) |
R673K |
probably benign |
Het |
| Sh2d3c |
T |
C |
2: 32,644,581 (GRCm39) |
*703R |
probably null |
Het |
| Spp1 |
A |
G |
5: 104,587,167 (GRCm39) |
M85V |
probably benign |
Het |
| Srebf1 |
T |
C |
11: 60,097,810 (GRCm39) |
E98G |
probably damaging |
Het |
| Ticam1 |
A |
T |
17: 56,578,154 (GRCm39) |
S314T |
possibly damaging |
Het |
| Tie1 |
T |
C |
4: 118,341,823 (GRCm39) |
I209V |
possibly damaging |
Het |
| Vapa |
G |
A |
17: 65,889,586 (GRCm39) |
R194* |
probably null |
Het |
| Vcan |
C |
T |
13: 89,838,360 (GRCm39) |
D2395N |
probably damaging |
Het |
| Whamm |
A |
G |
7: 81,241,574 (GRCm39) |
H295R |
probably benign |
Het |
| Zdhhc14 |
A |
G |
17: 5,698,186 (GRCm39) |
Y85C |
probably damaging |
Het |
| Zfp35 |
T |
A |
18: 24,136,583 (GRCm39) |
F309Y |
probably damaging |
Het |
| Zfp423 |
C |
A |
8: 88,414,694 (GRCm39) |
C1187F |
probably damaging |
Het |
| Zfp874b |
T |
C |
13: 67,622,392 (GRCm39) |
Y302C |
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 |
|
|
R6497:Srrm4
|
UTSW |
5 |
116,605,550 (GRCm39) |
missense |
unknown |
|
|
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'- TGCAGAGTACAGAGAGGTCC -3'
(R):5'- GGGGATAGAAGGATATTGTTTTCCC -3'
Sequencing Primer
(F):5'- GCATAGCTTTCTGCCGAGC -3'
(R):5'- GTTTTCCCTGAAACAGCACTGGG -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation