Incidental Mutation 'R8685:Srrm4'
| ID |
661981 |
| 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 |
068540-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.249)
|
| Stock # |
R8685 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
116577334-116729876 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 116585380 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 440
(R440G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075488
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076124]
[ENSMUST00000139425]
|
| AlphaFold |
Q8BKA3 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000076124
AA Change: R440G
|
| SMART Domains |
Protein: ENSMUSP00000075488
Gene: ENSMUSG00000063919
AA Change: R440G
| 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 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 |
probably benign
Transcript: ENSMUST00000222119
|
| Meta Mutation Damage Score |
0.0694 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.9%
- 20x: 99.7%
|
| Validation Efficiency |
100% (44/44) |
| 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 |
|---|
| 2310057J18Rik |
T |
C |
10: 28,862,140 (GRCm39) |
Y50C |
probably damaging |
Het |
| Adgrl3 |
G |
T |
5: 81,874,708 (GRCm39) |
D1002Y |
possibly damaging |
Het |
| Aoc3 |
G |
A |
11: 101,223,042 (GRCm39) |
R426H |
probably benign |
Het |
| Atf6b |
A |
G |
17: 34,869,320 (GRCm39) |
H179R |
probably benign |
Het |
| Bbs4 |
T |
C |
9: 59,247,138 (GRCm39) |
T121A |
probably benign |
Het |
| Brca1 |
T |
C |
11: 101,380,672 (GRCm39) |
Y1787C |
probably benign |
Het |
| Cbx2 |
T |
A |
11: 118,918,746 (GRCm39) |
S104T |
possibly damaging |
Het |
| Cdh10 |
T |
A |
15: 18,899,851 (GRCm39) |
N59K |
possibly damaging |
Het |
| Clstn3 |
C |
T |
6: 124,433,867 (GRCm39) |
R431H |
probably damaging |
Het |
| Cylc2 |
C |
T |
4: 51,229,651 (GRCm39) |
T331M |
unknown |
Het |
| Dcpp3 |
T |
C |
17: 24,138,096 (GRCm39) |
S85P |
probably benign |
Het |
| Dip2c |
A |
G |
13: 9,687,161 (GRCm39) |
T1262A |
probably benign |
Het |
| Dlgap2 |
A |
G |
8: 14,881,628 (GRCm39) |
E900G |
possibly damaging |
Het |
| Dtx4 |
C |
T |
19: 12,446,995 (GRCm39) |
D566N |
probably benign |
Het |
| Elmo1 |
T |
A |
13: 20,474,594 (GRCm39) |
N339K |
possibly damaging |
Het |
| Gm11596 |
C |
A |
11: 99,683,816 (GRCm39) |
R101S |
unknown |
Het |
| Hk1 |
T |
C |
10: 62,132,453 (GRCm39) |
|
probably benign |
Het |
| Hrnr |
T |
A |
3: 93,230,205 (GRCm39) |
S148T |
unknown |
Het |
| Hyls1 |
A |
G |
9: 35,472,724 (GRCm39) |
Y231H |
probably damaging |
Het |
| Il17rb |
T |
A |
14: 29,726,297 (GRCm39) |
Y97F |
probably benign |
Het |
| Lamc1 |
G |
T |
1: 153,109,288 (GRCm39) |
T1168K |
probably benign |
Het |
| Larp6 |
A |
T |
9: 60,631,495 (GRCm39) |
D89V |
probably damaging |
Het |
| Muc4 |
C |
G |
16: 32,575,221 (GRCm39) |
Q1269E |
probably benign |
Het |
| Myo18a |
A |
G |
11: 77,745,520 (GRCm39) |
T1953A |
probably benign |
Het |
| Myo5c |
A |
G |
9: 75,192,229 (GRCm39) |
D1127G |
possibly damaging |
Het |
| Myo7a |
T |
C |
7: 97,746,334 (GRCm39) |
D266G |
probably benign |
Het |
| Naa35 |
T |
A |
13: 59,734,036 (GRCm39) |
M22K |
probably benign |
Het |
| Niban2 |
T |
G |
2: 32,809,101 (GRCm39) |
L229R |
probably benign |
Het |
| Or1f19 |
A |
T |
16: 3,410,904 (GRCm39) |
I215F |
probably damaging |
Het |
| Pcdha8 |
T |
A |
18: 37,127,003 (GRCm39) |
V495E |
probably damaging |
Het |
| Per2 |
T |
G |
1: 91,378,402 (GRCm39) |
D49A |
possibly damaging |
Het |
| Plau |
G |
A |
14: 20,889,627 (GRCm39) |
|
probably benign |
Het |
| Plekhg6 |
T |
A |
6: 125,352,755 (GRCm39) |
I131L |
possibly damaging |
Het |
| Pnma8b |
T |
A |
7: 16,679,965 (GRCm39) |
D316E |
unknown |
Het |
| Ppp4r3b |
T |
C |
11: 29,159,436 (GRCm39) |
Y597H |
possibly damaging |
Het |
| Psmd2 |
T |
C |
16: 20,474,161 (GRCm39) |
V288A |
probably benign |
Het |
| Slc6a15 |
T |
C |
10: 103,245,556 (GRCm39) |
V513A |
possibly damaging |
Het |
| Smarcd3 |
G |
A |
5: 24,800,988 (GRCm39) |
R140W |
probably damaging |
Het |
| Tpsg1 |
A |
T |
17: 25,592,241 (GRCm39) |
Y105F |
possibly damaging |
Het |
| Trbv26 |
C |
A |
6: 41,204,693 (GRCm39) |
A38E |
probably damaging |
Het |
| Ush2a |
T |
A |
1: 188,198,401 (GRCm39) |
N1488K |
probably damaging |
Het |
| Vill |
A |
T |
9: 118,895,795 (GRCm39) |
R502S |
probably benign |
Het |
| Zbed6 |
A |
T |
1: 133,584,754 (GRCm39) |
L861* |
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 |
|
|
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 |
|
|
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'- ACCTTTGCTGGGTTAAGGC -3'
(R):5'- TTCTCTGATTAAGGGACAGGTTCC -3'
Sequencing Primer
(F):5'- ACTTCTAGGTAAGGTCTAAGGGATG -3'
(R):5'- CTTTAAAGAGTGCCACCTAGTGCG -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation