Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02553:Srrm4'

298587

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Srrm4

Ensembl Gene

ENSMUSG00000063919

Gene Name

serine/arginine repetitive matrix 4

Synonyms

1500001A10Rik, nSR100, flopsy, B230202K19Rik, fp, bv

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.249) question?

Stock #

IGL02553

Quality Score

Status

Chromosome

Chromosomal Location

116577334-116729876 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

C to T at 116582624 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076124] [ENSMUST00000139425]

AlphaFold

Q8BKA3

Predicted Effect

probably benign
Transcript: ENSMUST00000076124

SMART Domains

Protein: ENSMUSP00000075488
Gene: ENSMUSG00000063919

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

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc3	A	G	11: 94,242,750 (GRCm39)	S1326P	probably damaging	Het
Alpk1	A	T	3: 127,466,970 (GRCm39)	L1103Q	probably damaging	Het
Arhgap11a	A	C	2: 113,667,906 (GRCm39)		probably benign	Het
Arl6ip6	A	G	2: 53,082,226 (GRCm39)	Y31C	possibly damaging	Het
Arpin	G	T	7: 79,577,395 (GRCm39)	D217E	possibly damaging	Het
Atp13a4	C	T	16: 29,241,521 (GRCm39)	V735I	probably benign	Het
Ccdc146	A	T	5: 21,502,631 (GRCm39)	F753L	probably benign	Het
Cdh3	T	A	8: 107,270,880 (GRCm39)	L511*	probably null	Het
Chrna1	A	T	2: 73,397,206 (GRCm39)	I361N	possibly damaging	Het
Clk2	G	A	3: 89,083,020 (GRCm39)	R432H	probably damaging	Het
Col9a1	T	C	1: 24,261,018 (GRCm39)		probably benign	Het
Cstf1	G	T	2: 172,219,774 (GRCm39)	R295L	probably benign	Het
Dsg2	A	G	18: 20,725,467 (GRCm39)	D526G	probably damaging	Het
Dsg4	T	A	18: 20,595,577 (GRCm39)	H593Q	probably benign	Het
Dysf	T	C	6: 84,107,109 (GRCm39)	Y1171H	possibly damaging	Het
Erbb4	A	G	1: 68,345,023 (GRCm39)	L566P	probably benign	Het
Fam185a	T	A	5: 21,660,829 (GRCm39)	D281E	probably damaging	Het
Fam185a	T	A	5: 21,634,839 (GRCm39)		probably benign	Het
Fam91a1	T	A	15: 58,304,831 (GRCm39)		probably null	Het
Fat2	A	G	11: 55,202,109 (GRCm39)	W322R	probably damaging	Het
Fbxw8	T	A	5: 118,204,125 (GRCm39)		probably benign	Het
Ganc	A	G	2: 120,288,615 (GRCm39)	T874A	probably benign	Het
Gm3543	T	C	14: 41,802,048 (GRCm39)	I145M	probably benign	Het
Gtf2i	G	A	5: 134,274,015 (GRCm39)	T712I	probably damaging	Het
Hk1	A	G	10: 62,131,552 (GRCm39)	S268P	possibly damaging	Het
Hmcn1	A	G	1: 150,868,774 (GRCm39)	V10A	probably benign	Het
Hsd17b4	C	T	18: 50,295,164 (GRCm39)		probably benign	Het
Ighv1-75	A	T	12: 115,797,725 (GRCm39)	W66R	probably damaging	Het
Kif21b	G	T	1: 136,081,859 (GRCm39)	D636Y	probably damaging	Het
Kif5b	A	T	18: 6,220,914 (GRCm39)	I398N	probably benign	Het
Metap2	T	C	10: 93,701,311 (GRCm39)	M165V	probably damaging	Het
Mterf2	A	C	10: 84,956,331 (GRCm39)	L98V	probably damaging	Het
Muc16	A	G	9: 18,409,849 (GRCm39)		probably null	Het
Myo3b	A	G	2: 69,925,568 (GRCm39)	M12V	probably benign	Het
Nat10	C	A	2: 103,583,013 (GRCm39)	R136I	probably damaging	Het
Nsd2	T	G	5: 34,003,542 (GRCm39)	S231A	probably damaging	Het
Or4a71	T	C	2: 89,358,275 (GRCm39)	T160A	probably benign	Het
Or4k37	A	T	2: 111,159,333 (GRCm39)	M190L	probably benign	Het
Pcdhb14	T	A	18: 37,581,071 (GRCm39)	L59*	probably null	Het
Pias4	A	G	10: 80,999,621 (GRCm39)	L144P	probably damaging	Het
Plxna2	T	A	1: 194,433,746 (GRCm39)	N598K	probably benign	Het
Polq	A	G	16: 36,862,130 (GRCm39)	Y550C	probably damaging	Het
Pot1b	T	A	17: 56,002,024 (GRCm39)		probably benign	Het
Proz	T	C	8: 13,115,260 (GRCm39)	V92A	probably benign	Het
Rab4a	T	C	8: 124,550,561 (GRCm39)	F14L	probably benign	Het
Riok3	T	A	18: 12,276,073 (GRCm39)	C256*	probably null	Het
Slc6a1	T	A	6: 114,279,451 (GRCm39)		probably benign	Het
Socs5	C	T	17: 87,442,419 (GRCm39)	T453M	probably damaging	Het
Spata3	T	C	1: 85,952,211 (GRCm39)	L135P	probably damaging	Het
Spata46	A	G	1: 170,139,534 (GRCm39)	K178E	probably damaging	Het
Spr	T	C	6: 85,114,430 (GRCm39)	N100D	probably damaging	Het
Stard3	T	C	11: 98,267,389 (GRCm39)	F169S	possibly damaging	Het
Tbx1	T	A	16: 18,402,847 (GRCm39)	D222V	probably damaging	Het
Trbv23	C	T	6: 41,193,279 (GRCm39)	Q56*	probably null	Het
Tsc22d1	A	G	14: 76,654,838 (GRCm39)	N357S	possibly damaging	Het
Ugt1a6a	C	T	1: 88,066,811 (GRCm39)	P206S	probably benign	Het
Utp20	A	G	10: 88,600,657 (GRCm39)	V19A	probably damaging	Het
Vps13b	A	G	15: 35,646,447 (GRCm39)	N1517S	probably benign	Het
Washc2	T	C	6: 116,218,571 (GRCm39)	I672T	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
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
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

Posted On

2015-04-16