Mutagenetix > Incidental Mutation

Incidental Mutation 'R3522:Srrm4'

267535

Institutional Source

Beutler Lab

Gene Symbol

Srrm4

Ensembl Gene

ENSMUSG00000063919

Gene Name

serine/arginine repetitive matrix 4

Synonyms

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

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.253) question?

Stock #

R3522 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

116439275-116591817 bp(-) (GRCm38)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

A to C at 116446544 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Arginine at position 1 (M1R)

Ref Sequence

ENSEMBL: ENSMUSP00000144367 (fasta)

Gene Model

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

AlphaFold

Q8BKA3

Predicted Effect

probably benign
Transcript: ENSMUST00000076124
AA Change: M489R

PolyPhen 2 Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000075488
Gene: ENSMUSG00000063919
AA Change: M489R

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 null
Transcript: ENSMUST00000139425
AA Change: M1R

SMART Domains

Protein: ENSMUSP00000144367
Gene: ENSMUSG00000063919
AA Change: M1R

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

0.1681

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.8%

Validation Efficiency

100% (72/72)

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
4931409K22Rik	A	G	5: 24,549,626		probably null	Het
Ankrd35	A	G	3: 96,685,062	E888G	probably damaging	Het
Arhgef10	T	C	8: 14,954,918	F150S	probably damaging	Het
Atp10d	G	T	5: 72,239,157	R235L	probably benign	Het
Cacna1b	A	G	2: 24,763,043	V2A	possibly damaging	Het
Cand1	A	T	10: 119,239,197	L15Q	probably benign	Het
Cavin3	C	A	7: 105,481,143	G154V	probably benign	Het
Ccdc73	A	T	2: 104,991,485	D593V	probably damaging	Het
Cdk5rap2	T	C	4: 70,250,410	K161E	probably damaging	Het
Chil4	A	T	3: 106,203,740	N279K	probably benign	Het
Chst13	T	G	6: 90,318,263	D56A	probably damaging	Het
Cnn1	C	A	9: 22,099,368	H5N	probably benign	Het
Cpsf4l	T	A	11: 113,702,493	K88N	probably damaging	Het
Ctnnbl1	G	T	2: 157,871,193		probably null	Het
Dnah7a	A	C	1: 53,618,116	F834V	probably damaging	Het
Fbxo41	A	G	6: 85,484,181	S182P	probably benign	Het
Fkbp5	T	C	17: 28,415,996	T180A	probably benign	Het
Flg2	T	A	3: 93,220,027	I2082N	unknown	Het
Gm4968	A	G	6: 127,233,762		noncoding transcript	Het
Gpc5	T	A	14: 116,524,335	H612Q	probably benign	Het
Gsg1	A	T	6: 135,241,253	V212D	probably damaging	Het
Hipk1	A	G	3: 103,744,114	V1111A	probably damaging	Het
Hormad1	A	T	3: 95,576,285	Q136L	probably benign	Het
Ifi35	T	A	11: 101,457,685	S147R	probably benign	Het
Iqgap3	C	T	3: 88,090,782	A282V	probably null	Het
Jmy	T	C	13: 93,454,050	D515G	probably damaging	Het
Kctd10	G	A	5: 114,374,923	R64C	probably damaging	Het
Kidins220	T	C	12: 24,990,758	V121A	probably damaging	Het
Lcn3	G	A	2: 25,766,121	V63M	possibly damaging	Het
Lmx1b	T	A	2: 33,639,531	Y72F	probably benign	Het
Lrp1	T	C	10: 127,553,555	D3164G	probably damaging	Het
Mdh1b	C	T	1: 63,719,768	V222M	probably damaging	Het
Mst1	T	C	9: 108,081,503		probably benign	Het
Myo7b	C	A	18: 32,010,079	V189F	probably damaging	Het
Ndc1	T	C	4: 107,393,158	S533P	probably damaging	Het
Ndrg3	T	C	2: 156,944,027	D164G	probably damaging	Het
Nol11	C	T	11: 107,173,628	C500Y	possibly damaging	Het
Nsd3	A	G	8: 25,706,614	N1208D	probably benign	Het
Nup155	C	T	15: 8,156,678		probably benign	Het
Olfr768	A	G	10: 129,093,842	I44T	possibly damaging	Het
Olfr911-ps1	A	G	9: 38,523,785	T18A	probably damaging	Het
Olfr921	A	T	9: 38,775,720	D155V	possibly damaging	Het
Olfr988	A	T	2: 85,353,003	C308S	probably benign	Het
Phf3	A	G	1: 30,805,603	L1425P	probably damaging	Het
Pla2r1	A	G	2: 60,448,906	Y777H	probably damaging	Het
Pld1	A	G	3: 28,031,247	E184G	probably damaging	Het
Plxna1	T	C	6: 89,337,353		probably null	Het
Ptgfrn	T	C	3: 101,043,402	E865G	probably damaging	Het
Ptpn13	G	T	5: 103,589,854		probably benign	Het
Pygb	G	T	2: 150,828,553	V763F	probably benign	Het
Ros1	A	C	10: 52,090,995	Y1705*	probably null	Het
Sec61a2	A	G	2: 5,893,216	F5L	probably benign	Het
Skint5	A	G	4: 113,756,905		probably null	Het
Sntg2	A	G	12: 30,312,567	V60A	probably damaging	Het
Sppl2a	A	G	2: 126,920,322	C280R	possibly damaging	Het
Sult1c1	T	C	17: 53,972,015	E91G	probably damaging	Het
Themis2	C	G	4: 132,785,595	R440P	probably damaging	Het
Tmem229a	A	G	6: 24,955,059	L232P	probably benign	Het
Trappc1	T	C	11: 69,324,422	F43L	probably damaging	Het
Trappc11	A	T	8: 47,498,673	Y982N	possibly damaging	Het
Trpv6	A	T	6: 41,627,405	M139K	probably damaging	Het
Txnrd3	A	G	6: 89,663,075		probably null	Het
Vmn1r184	T	A	7: 26,267,583	Y251*	probably null	Het
Vmn1r216	A	G	13: 23,099,374	N76D	possibly damaging	Het
Vmn1r71	C	A	7: 10,747,865	V233F	probably benign	Het
Vps13a	A	C	19: 16,766,493		probably benign	Het
Vwa5b2	A	G	16: 20,601,608	S756G	probably damaging	Het
Wdr36	T	A	18: 32,861,485		probably null	Het
Wdr86	A	G	5: 24,718,307	V129A	probably benign	Het
Zfyve9	A	G	4: 108,719,743	L47S	probably benign	Het

Other mutations in Srrm4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00156:Srrm4	APN	5	116446557	missense	possibly damaging	0.86
IGL01291:Srrm4	APN	5	116467569	missense	unknown
IGL01873:Srrm4	APN	5	116591468	utr 5 prime	probably benign
IGL02553:Srrm4	APN	5	116444565	unclassified	probably benign
IGL03090:Srrm4	APN	5	116449584	utr 3 prime	probably benign
ANU05:Srrm4	UTSW	5	116467569	missense	unknown
R0285:Srrm4	UTSW	5	116467789	unclassified	probably benign
R0386:Srrm4	UTSW	5	116482378	splice site	probably benign
R0825:Srrm4	UTSW	5	116453713	missense	unknown
R0845:Srrm4	UTSW	5	116444885	splice site	probably null
R1615:Srrm4	UTSW	5	116447300	unclassified	probably benign
R1874:Srrm4	UTSW	5	116453506	utr 3 prime	probably benign
R2037:Srrm4	UTSW	5	116467828	unclassified	probably benign
R3968:Srrm4	UTSW	5	116444744	unclassified	probably benign
R4507:Srrm4	UTSW	5	116446553	missense	probably damaging	0.98
R4771:Srrm4	UTSW	5	116475175	critical splice donor site	probably null
R4815:Srrm4	UTSW	5	116475190	missense	unknown
R4817:Srrm4	UTSW	5	116477134	missense	unknown
R5383:Srrm4	UTSW	5	116471260	unclassified	probably benign
R5620:Srrm4	UTSW	5	116449613	utr 3 prime	probably benign
R5639:Srrm4	UTSW	5	116591359	missense	unknown
R6497:Srrm4	UTSW	5	116467491	missense	unknown
R7029:Srrm4	UTSW	5	116444792	unclassified	probably benign
R7166:Srrm4	UTSW	5	116471242	missense	unknown
R7514:Srrm4	UTSW	5	116446511	missense	probably damaging	0.98
R8187:Srrm4	UTSW	5	116449621	missense	unknown
R8309:Srrm4	UTSW	5	116591567	start gained	probably benign
R8391:Srrm4	UTSW	5	116444696	missense	unknown
R8685:Srrm4	UTSW	5	116447321	missense	unknown
R8750:Srrm4	UTSW	5	116467508	missense	unknown
R9019:Srrm4	UTSW	5	116467527	missense	unknown
R9102:Srrm4	UTSW	5	116482504	missense	unknown
R9676:Srrm4	UTSW	5	116446722	unclassified	probably benign
R9712:Srrm4	UTSW	5	116482393	missense	unknown
Z1176:Srrm4	UTSW	5	116453419	nonsense	probably null
Z1177:Srrm4	UTSW	5	116453636	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TGGAAGGGCTATTCTGGAGC -3'
(R):5'- CTGACAAAGCCTAGCCTCAGTG -3'

Sequencing Primer
(F):5'- TATTCTGGAGCGCCACCC -3'
(R):5'- CTCAGTGAACACAGTTAAGAGTCTC -3'

Posted On

2015-02-18