Incidental Mutation 'R9019:Srrm4'
| ID |
686602 |
| 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 |
068849-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.249)
|
| Stock # |
R9019 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
116577334-116729876 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 116605586 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 224
(S224P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075488
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076124]
|
| AlphaFold |
Q8BKA3 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000076124
AA Change: S224P
|
| SMART Domains |
Protein: ENSMUSP00000075488
Gene: ENSMUSG00000063919
AA Change: S224P
| 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 |
|
| Meta Mutation Damage Score |
0.0704 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
100% (48/48) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
T |
A |
11: 110,011,522 (GRCm39) |
T1174S |
|
Het |
| Aoc2 |
C |
T |
11: 101,216,262 (GRCm39) |
P115L |
possibly damaging |
Het |
| Arhgef19 |
C |
T |
4: 140,973,738 (GRCm39) |
P75L |
probably benign |
Het |
| Atad3a |
A |
G |
4: 155,838,052 (GRCm39) |
V240A |
possibly damaging |
Het |
| AW551984 |
A |
T |
9: 39,508,973 (GRCm39) |
L317* |
probably null |
Het |
| Bdkrb1 |
T |
C |
12: 105,570,700 (GRCm39) |
S89P |
probably damaging |
Het |
| Bpifb4 |
T |
A |
2: 153,790,607 (GRCm39) |
L166* |
probably null |
Het |
| Ccdc27 |
A |
G |
4: 154,124,014 (GRCm39) |
V173A |
unknown |
Het |
| Ccl8 |
T |
C |
11: 82,006,877 (GRCm39) |
V30A |
probably benign |
Het |
| Cdc16 |
C |
T |
8: 13,831,501 (GRCm39) |
A578V |
probably benign |
Het |
| Cnksr1 |
T |
C |
4: 133,959,365 (GRCm39) |
Y423C |
probably damaging |
Het |
| Cyp3a44 |
T |
C |
5: 145,727,519 (GRCm39) |
D270G |
probably damaging |
Het |
| Ep300 |
A |
G |
15: 81,532,730 (GRCm39) |
E1656G |
unknown |
Het |
| Eppk1 |
A |
G |
15: 75,992,472 (GRCm39) |
F1470L |
probably benign |
Het |
| Fbxw16 |
T |
A |
9: 109,270,135 (GRCm39) |
D202V |
probably damaging |
Het |
| Fndc3a |
G |
A |
14: 72,811,840 (GRCm39) |
T330I |
probably benign |
Het |
| Gm36864 |
A |
T |
7: 43,887,028 (GRCm39) |
Q307L |
probably benign |
Het |
| Gm37240 |
T |
C |
3: 84,426,946 (GRCm39) |
E38G |
probably damaging |
Het |
| Gm6871 |
A |
T |
7: 41,195,262 (GRCm39) |
C492S |
probably damaging |
Het |
| Gnaq |
T |
C |
19: 16,355,638 (GRCm39) |
Y285H |
probably benign |
Het |
| Htt |
T |
A |
5: 35,023,920 (GRCm39) |
F1723I |
probably damaging |
Het |
| Il21r |
G |
A |
7: 125,231,472 (GRCm39) |
S300N |
probably damaging |
Het |
| Itm2b |
G |
A |
14: 73,605,856 (GRCm39) |
|
probably benign |
Het |
| Kat6a |
T |
C |
8: 23,425,754 (GRCm39) |
S1100P |
probably damaging |
Het |
| Kcnj2 |
T |
C |
11: 110,963,415 (GRCm39) |
I269T |
probably damaging |
Het |
| Kmt2c |
G |
A |
5: 25,488,208 (GRCm39) |
A4635V |
probably damaging |
Het |
| Kng2 |
A |
T |
16: 22,847,546 (GRCm39) |
D38E |
probably damaging |
Het |
| Lgr5 |
A |
C |
10: 115,314,454 (GRCm39) |
L161R |
probably damaging |
Het |
| Lrig2 |
A |
T |
3: 104,368,914 (GRCm39) |
I923N |
probably benign |
Het |
| Mrgprh |
T |
C |
17: 13,096,200 (GRCm39) |
S147P |
probably damaging |
Het |
| Mthfd1 |
C |
T |
12: 76,350,754 (GRCm39) |
T712M |
probably benign |
Het |
| Nsmaf |
A |
T |
4: 6,418,523 (GRCm39) |
S427R |
probably damaging |
Het |
| Or8g53 |
G |
T |
9: 39,684,038 (GRCm39) |
D19E |
probably benign |
Het |
| Pdcd11 |
G |
T |
19: 47,101,658 (GRCm39) |
G948C |
probably damaging |
Het |
| Pdzd2 |
A |
G |
15: 12,375,612 (GRCm39) |
Y1508H |
probably damaging |
Het |
| Prmt5 |
G |
T |
14: 54,753,564 (GRCm39) |
A105E |
probably benign |
Het |
| Prr23a3 |
T |
C |
9: 98,747,213 (GRCm39) |
S56P |
probably damaging |
Het |
| Slc44a2 |
A |
G |
9: 21,265,077 (GRCm39) |
E705G |
probably damaging |
Het |
| Sostdc1 |
A |
T |
12: 36,364,431 (GRCm39) |
N47Y |
probably benign |
Het |
| Speg |
T |
C |
1: 75,405,882 (GRCm39) |
Y3029H |
probably damaging |
Het |
| Srd5a1 |
G |
A |
13: 69,748,413 (GRCm39) |
R129* |
probably null |
Het |
| Syne2 |
A |
G |
12: 75,999,618 (GRCm39) |
E2337G |
possibly damaging |
Het |
| Tmem150c |
C |
A |
5: 100,240,958 (GRCm39) |
V32L |
probably benign |
Het |
| Topaz1 |
T |
C |
9: 122,619,192 (GRCm39) |
I1263T |
possibly damaging |
Het |
| Ttc39d |
C |
T |
17: 80,523,349 (GRCm39) |
R3W |
probably benign |
Het |
| Xylt1 |
T |
C |
7: 117,250,038 (GRCm39) |
|
probably null |
Het |
| Zfp933 |
A |
T |
4: 147,911,021 (GRCm39) |
C192S |
probably damaging |
Het |
| Zswim8 |
G |
A |
14: 20,761,119 (GRCm39) |
G129D |
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 |
|
|
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 |
|
|
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'- GGAGCCAGTGGGGAATTTTAC -3'
(R):5'- CTTCTGTCCCACAATGAGTAGC -3'
Sequencing Primer
(F):5'- GGTATCACACACTGCCCTG -3'
(R):5'- TGTCCCACAATGAGTAGCTCCTAAC -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation