Mutagenetix > Incidental Mutation

Incidental Mutation 'R5620:Srrm4'

439776

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

043160-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.275) question?

Stock #

R5620 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

116577334-116729876 bp(-) (GRCm39)

Type of Mutation

utr 3 prime

DNA Base Change (assembly)

G to T at 116587672 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: P362Q

SMART Domains

Protein: ENSMUSP00000075488
Gene: ENSMUSG00000063919
AA Change: P362Q

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.4%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aaas	A	C	15: 102,246,826 (GRCm39)	S511A	probably benign	Het
Abca3	C	T	17: 24,615,444 (GRCm39)	T845I	probably benign	Het
Acaa2	G	A	18: 74,938,945 (GRCm39)	A377T	possibly damaging	Het
Adcy4	C	A	14: 56,009,824 (GRCm39)	E743*	probably null	Het
Ahnak	T	A	19: 8,990,458 (GRCm39)	L3914*	probably null	Het
Akap1	G	T	11: 88,736,343 (GRCm39)	N106K	possibly damaging	Het
Arid2	C	T	15: 96,270,387 (GRCm39)	T1500I	probably benign	Het
Atp6v0a2	T	A	5: 124,783,909 (GRCm39)	Y252*	probably null	Het
C4bp	A	G	1: 130,581,090 (GRCm39)	S140P	probably damaging	Het
Cald1	A	G	6: 34,739,047 (GRCm39)	I384M	probably damaging	Het
Cdk12	A	G	11: 98,101,809 (GRCm39)	I556V	unknown	Het
Chmp2a	T	C	7: 12,766,237 (GRCm39)	S174G	probably benign	Het
Clybl	T	A	14: 122,548,755 (GRCm39)	N52K	probably damaging	Het
Cyp4a29	C	A	4: 115,108,088 (GRCm39)	S303R	probably benign	Het
Dab2	T	A	15: 6,447,796 (GRCm39)	D59E	probably damaging	Het
Dag1	C	A	9: 108,086,214 (GRCm39)	R309L	probably damaging	Het
Dync1i2	T	A	2: 71,088,483 (GRCm39)	M505K	probably benign	Het
Eif2b1	A	T	5: 124,717,075 (GRCm39)	M1K	probably null	Het
Epc1	A	G	18: 6,448,917 (GRCm39)	S577P	probably benign	Het
Eps8l1	T	A	7: 4,463,945 (GRCm39)	I23N	possibly damaging	Het
Etl4	A	G	2: 20,535,037 (GRCm39)	E164G	probably damaging	Het
Firrm	C	A	1: 163,789,613 (GRCm39)	G641*	probably null	Het
Gadl1	A	T	9: 115,766,230 (GRCm39)	M1L	probably benign	Het
Gda	T	C	19: 21,374,908 (GRCm39)	D336G	probably damaging	Het
Grm2	A	T	9: 106,527,645 (GRCm39)	V413D	probably damaging	Het
Hnrnpll	G	T	17: 80,346,051 (GRCm39)	N403K	probably damaging	Het
Ifit1	T	A	19: 34,625,238 (GRCm39)	F125I	probably damaging	Het
Igkv5-43	C	T	6: 69,800,892 (GRCm39)	V2I	probably benign	Het
Kat5	A	C	19: 5,659,507 (GRCm39)	Y44*	probably null	Het
Klc2	A	G	19: 5,162,884 (GRCm39)	V205A	probably damaging	Het
Klrb1c	T	A	6: 128,761,706 (GRCm39)	T133S	possibly damaging	Het
Krt20	A	G	11: 99,326,283 (GRCm39)	L157P	probably damaging	Het
Krt26	G	T	11: 99,228,597 (GRCm39)	T45N	possibly damaging	Het
Lama2	C	T	10: 26,866,876 (GRCm39)	D2873N	probably damaging	Het
Lig1	T	A	7: 13,020,532 (GRCm39)	C114S	possibly damaging	Het
Lonp1	G	C	17: 56,927,263 (GRCm39)	A330G	probably benign	Het
Maml2	A	T	9: 13,608,616 (GRCm39)	R21S	probably damaging	Het
Mrpl35	C	T	6: 71,794,720 (GRCm39)	V83I	probably benign	Het
Myo3b	A	G	2: 70,069,254 (GRCm39)	R498G	probably benign	Het
Nup153	C	A	13: 46,837,482 (GRCm39)	E1247*	probably null	Het
Or2t48	A	T	11: 58,420,557 (GRCm39)	M85K	probably damaging	Het
Pcdhac2	A	G	18: 37,277,257 (GRCm39)	N79S	probably benign	Het
Pcgf6	C	T	19: 47,036,406 (GRCm39)	G221D	probably damaging	Het
Phf11b	C	T	14: 59,558,953 (GRCm39)	D260N	probably benign	Het
Pla2g5	T	C	4: 138,531,921 (GRCm39)	M28V	possibly damaging	Het
Prpf8	T	C	11: 75,395,927 (GRCm39)	S1934P	possibly damaging	Het
Prr5	A	G	15: 84,640,570 (GRCm39)	S140G	probably benign	Het
Prrc2c	T	C	1: 162,501,098 (GRCm39)	D1235G	probably damaging	Het
Rasgrp2	T	C	19: 6,455,031 (GRCm39)	S254P	probably damaging	Het
Rassf8	C	T	6: 145,765,907 (GRCm39)		probably benign	Het
Rgs20	T	A	1: 4,982,666 (GRCm39)	E167D	probably damaging	Het
Rmnd1	G	T	10: 4,372,159 (GRCm39)	A180E	probably damaging	Het
Rnf103	A	G	6: 71,486,992 (GRCm39)	D541G	probably benign	Het
Rpl9	G	T	5: 65,546,468 (GRCm39)	Q140K	probably benign	Het
Sfmbt1	T	G	14: 30,506,148 (GRCm39)		probably null	Het
Shank1	C	A	7: 43,962,160 (GRCm39)	D10E	unknown	Het
Sucla2	T	A	14: 73,832,836 (GRCm39)	V447E	probably damaging	Het
Tbc1d1	A	G	5: 64,331,055 (GRCm39)	D78G	probably benign	Het
Tcp1	T	A	17: 13,138,224 (GRCm39)		probably null	Het
Tctn3	C	A	19: 40,597,361 (GRCm39)	E230*	probably null	Het
Thsd7b	G	A	1: 130,090,673 (GRCm39)		probably null	Het
Tmem63a	A	G	1: 180,797,811 (GRCm39)	M621V	probably benign	Het
Tnxb	A	T	17: 34,936,504 (GRCm39)	K2756*	probably null	Het
Trpm8	G	A	1: 88,287,373 (GRCm39)		probably null	Het
Txndc16	C	A	14: 45,373,335 (GRCm39)	V764F	possibly damaging	Het
Ush2a	A	T	1: 188,492,020 (GRCm39)	D3103V	possibly damaging	Het
Usp22	A	T	11: 61,049,206 (GRCm39)	I381N	probably damaging	Het
Zfp462	T	A	4: 55,013,464 (GRCm39)	M1810K	probably benign	Het
Zfp64	T	A	2: 168,741,888 (GRCm39)	M347L	possibly damaging	Het
Zfp69	T	C	4: 120,787,719 (GRCm39)	D532G	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
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'- TTTTCAGAGGAGGTGGACCG -3'
(R):5'- ATATCCATCTACTTGTGAGGTCTTC -3'

Sequencing Primer
(F):5'- AGAGGAGGTGGACCGACTCC -3'
(R):5'- GCTCTTCTAAATTCTGACACCTGG -3'

Posted On

2016-11-08