Incidental Mutation 'R1615:Srrm4'
ID |
177040 |
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 |
039652-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.249)
|
Stock # |
R1615 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
116577334-116729876 bp(-) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
A to G
at 116585359 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: S447P
|
SMART Domains |
Protein: ENSMUSP00000075488 Gene: ENSMUSG00000063919 AA Change: S447P
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 |
noncoding transcript
Transcript: ENSMUST00000133548
|
Predicted Effect |
probably benign
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 |
0.0672 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.3%
- 20x: 88.8%
|
Validation Efficiency |
98% (64/65) |
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy8 |
A |
T |
15: 64,743,625 (GRCm39) |
C328S |
probably benign |
Het |
Adgrv1 |
G |
T |
13: 81,572,407 (GRCm39) |
T4918K |
probably benign |
Het |
Aen |
T |
C |
7: 78,555,660 (GRCm39) |
Y108H |
probably damaging |
Het |
Amer3 |
T |
C |
1: 34,627,252 (GRCm39) |
M497T |
probably damaging |
Het |
Arid2 |
C |
T |
15: 96,269,535 (GRCm39) |
T1216M |
possibly damaging |
Het |
Birc6 |
A |
G |
17: 74,916,404 (GRCm39) |
|
probably null |
Het |
Bzw2 |
A |
G |
12: 36,169,126 (GRCm39) |
|
probably benign |
Het |
Ccr1 |
T |
C |
9: 123,763,573 (GRCm39) |
H319R |
probably benign |
Het |
Dnah11 |
A |
G |
12: 118,014,457 (GRCm39) |
I2010T |
probably damaging |
Het |
Dnhd1 |
A |
G |
7: 105,352,413 (GRCm39) |
Y2522C |
probably benign |
Het |
Dnhd1 |
T |
A |
7: 105,362,913 (GRCm39) |
I3825K |
possibly damaging |
Het |
Dst |
A |
T |
1: 34,238,452 (GRCm39) |
D3718V |
probably damaging |
Het |
Esp36 |
A |
G |
17: 38,730,330 (GRCm39) |
|
probably benign |
Het |
Fbxw21 |
T |
C |
9: 108,972,794 (GRCm39) |
Y380C |
probably damaging |
Het |
Fhad1 |
G |
A |
4: 141,649,634 (GRCm39) |
T836M |
probably damaging |
Het |
Fhod1 |
C |
T |
8: 106,074,463 (GRCm39) |
|
probably benign |
Het |
Flt1 |
A |
G |
5: 147,576,098 (GRCm39) |
C637R |
probably damaging |
Het |
Fmnl2 |
A |
G |
2: 53,008,436 (GRCm39) |
K809E |
probably damaging |
Het |
Grm1 |
G |
T |
10: 10,617,252 (GRCm39) |
Y510* |
probably null |
Het |
Hey1 |
A |
T |
3: 8,729,898 (GRCm39) |
H186Q |
possibly damaging |
Het |
Insyn1 |
C |
T |
9: 58,406,351 (GRCm39) |
A87V |
probably damaging |
Het |
Itga2b |
C |
T |
11: 102,350,963 (GRCm39) |
|
probably null |
Het |
Kcnv1 |
G |
A |
15: 44,977,840 (GRCm39) |
T66M |
probably damaging |
Het |
Lmcd1 |
A |
G |
6: 112,250,911 (GRCm39) |
D7G |
probably benign |
Het |
Lrrc1 |
T |
C |
9: 77,342,400 (GRCm39) |
D358G |
possibly damaging |
Het |
Lyn |
A |
G |
4: 3,748,765 (GRCm39) |
K248E |
probably benign |
Het |
Map4k4 |
A |
G |
1: 40,045,990 (GRCm39) |
|
probably benign |
Het |
Map4k5 |
A |
T |
12: 69,891,187 (GRCm39) |
L160H |
probably damaging |
Het |
Mtcl2 |
T |
G |
2: 156,862,663 (GRCm39) |
H1422P |
probably damaging |
Het |
Myo6 |
C |
T |
9: 80,215,007 (GRCm39) |
R1247C |
probably damaging |
Het |
Myo9a |
A |
G |
9: 59,695,739 (GRCm39) |
E347G |
possibly damaging |
Het |
Ndfip1 |
C |
T |
18: 38,593,672 (GRCm39) |
P213S |
probably benign |
Het |
Neurl3 |
T |
C |
1: 36,308,470 (GRCm39) |
E114G |
possibly damaging |
Het |
Nlrp14 |
A |
T |
7: 106,795,370 (GRCm39) |
I877F |
probably benign |
Het |
Obscn |
A |
G |
11: 58,990,651 (GRCm39) |
S1733P |
probably benign |
Het |
Oxgr1 |
A |
T |
14: 120,260,185 (GRCm39) |
S7R |
probably benign |
Het |
Plcb1 |
A |
T |
2: 135,204,364 (GRCm39) |
|
probably benign |
Het |
Prkag2 |
G |
T |
5: 25,080,176 (GRCm39) |
N120K |
possibly damaging |
Het |
Rnf43 |
C |
T |
11: 87,622,485 (GRCm39) |
R529* |
probably null |
Het |
Saraf |
A |
G |
8: 34,632,442 (GRCm39) |
K174E |
possibly damaging |
Het |
Scrib |
T |
C |
15: 75,938,054 (GRCm39) |
Q264R |
probably benign |
Het |
Sh3rf3 |
T |
A |
10: 58,966,899 (GRCm39) |
M747K |
probably benign |
Het |
Shf |
T |
C |
2: 122,179,913 (GRCm39) |
H421R |
probably damaging |
Het |
Slc35g3 |
A |
G |
11: 69,651,368 (GRCm39) |
S228P |
probably damaging |
Het |
Slit1 |
A |
G |
19: 41,639,110 (GRCm39) |
|
probably benign |
Het |
Stfa1 |
T |
G |
16: 36,100,829 (GRCm39) |
V23G |
probably damaging |
Het |
Swap70 |
A |
G |
7: 109,872,498 (GRCm39) |
D371G |
probably benign |
Het |
Tada2a |
T |
C |
11: 83,993,926 (GRCm39) |
D186G |
probably damaging |
Het |
Tdpoz3 |
C |
A |
3: 93,733,618 (GRCm39) |
Q98K |
probably benign |
Het |
Tgfbrap1 |
A |
G |
1: 43,091,145 (GRCm39) |
V660A |
probably benign |
Het |
Tnn |
A |
G |
1: 159,945,978 (GRCm39) |
Y947H |
possibly damaging |
Het |
Trim60 |
A |
T |
8: 65,453,162 (GRCm39) |
C362* |
probably null |
Het |
Vmn1r81 |
T |
A |
7: 11,994,441 (GRCm39) |
N56Y |
probably damaging |
Het |
Vsig8 |
A |
G |
1: 172,387,280 (GRCm39) |
D52G |
probably damaging |
Het |
Wdfy4 |
G |
A |
14: 32,764,469 (GRCm39) |
R2140C |
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 |
|
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'- AGGTAAGGTCTAAGGGATGTGGCTC -3'
(R):5'- AACCATGCTCCTCCAAATGGTCTG -3'
Sequencing Primer
(F):5'- TCTAAGGGATGTGGCTCAGGAG -3'
(R):5'- ctcctccaaatggtctgaaatg -3'
|
Posted On |
2014-04-24 |