Mutagenetix > Incidental Mutation

Incidental Mutation 'R9712:Srrm4'

730243

Institutional Source

Beutler Lab

Gene Symbol

Srrm4

Ensembl Gene

ENSMUSG00000063919

Gene Name

serine/arginine repetitive matrix 4

Synonyms

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

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.194) question?

Stock #

R9712 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

116439275-116591817 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 116482393 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 92 (H92L)

Ref Sequence

ENSEMBL: ENSMUSP00000075488 (fasta)

Gene Model

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

AlphaFold

Q8BKA3

Predicted Effect

unknown
Transcript: ENSMUST00000076124
AA Change: H92L

SMART Domains

Protein: ENSMUSP00000075488
Gene: ENSMUSG00000063919
AA Change: H92L

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810055G02Rik	A	T	19: 3,715,784	M20L	probably benign	Het
9430007A20Rik	C	T	4: 144,528,784	A258V	probably benign	Het
Abca8b	T	A	11: 109,942,337	D1241V	probably benign	Het
Adam20	G	A	8: 40,795,453	R200H	probably benign	Het
Adcy10	T	C	1: 165,513,112	F229L	probably damaging	Het
Adsl	A	T	15: 80,955,639	N126I	probably benign	Het
Ahnak	AGATCTC	A	19: 9,007,028		probably benign	Het
Ahnak	GATCTCTAT	GAT	19: 9,007,029		probably benign	Het
Aktip	G	A	8: 91,129,727	P41S	probably damaging	Het
Alkbh3	C	A	2: 93,980,973	R258L	probably damaging	Het
Arfgap3	A	G	15: 83,313,533	Y341H	probably benign	Het
Arhgef26	C	T	3: 62,423,613	L583F	probably damaging	Het
Arhgef40	T	C	14: 51,988,958	I153T	probably damaging	Het
Atp1a1	T	C	3: 101,591,441	S179G	probably benign	Het
Bok	T	C	1: 93,686,507	S21P	probably damaging	Het
C130060K24Rik	A	G	6: 65,456,140	I315V	probably benign	Het
Ccdc136	A	G	6: 29,417,442	E754G	probably benign	Het
Cers3	A	G	7: 66,773,630	K108E	probably benign	Het
Cmya5	T	C	13: 93,065,373		probably null	Het
Col19a1	T	C	1: 24,328,067	E478G	possibly damaging	Het
Colec10	T	A	15: 54,459,784	S134R	possibly damaging	Het
Ctnnb1	A	T	9: 120,955,829	I514F	probably damaging	Het
Cux1	C	T	5: 136,309,819	E664K	probably benign	Het
Dars	T	C	1: 128,405,462	Q75R	probably benign	Het
Disp1	T	A	1: 183,135,815	S16C	probably damaging	Het
Dnah7a	A	T	1: 53,559,140	V1412E	probably benign	Het
Ect2l	C	T	10: 18,168,434	V226I	probably benign	Het
Ep400	T	A	5: 110,756,643	H30L	unknown	Het
Ephx4	A	G	5: 107,419,781	I202V	probably benign	Het
Exoc3	A	T	13: 74,192,908	F259Y	probably damaging	Het
Ezr	T	C	17: 6,752,995	E229G	probably damaging	Het
Fat1	A	T	8: 45,017,380	I1472L	probably benign	Het
Fsd1l	T	G	4: 53,679,972	D223E	probably benign	Het
Gata6	A	T	18: 11,059,064	D377V	possibly damaging	Het
Gm12185	A	T	11: 48,907,389	M759K	probably benign	Het
Gm21994	C	T	2: 150,254,576	R311Q	probably benign	Het
Gm9922	C	T	14: 101,729,457	A120T	unknown	Het
Hectd4	A	T	5: 121,310,681	Y364F	probably benign	Het
Hnrnph1	A	G	11: 50,385,869	S465G	unknown	Het
Ifi204	T	C	1: 173,749,358	Y559C	probably damaging	Het
Ift88	T	C	14: 57,481,396	S613P	probably damaging	Het
Kif21a	G	C	15: 90,985,325	A441G	probably damaging	Het
Kif21a	G	T	15: 90,995,512	T191K	probably benign	Het
Lrit1	T	A	14: 37,060,127	C252*	probably null	Het
Ncbp1	T	A	4: 46,144,837	D29E	probably benign	Het
Nlrp10	A	T	7: 108,925,528	D248E	probably damaging	Het
Nphp4	T	G	4: 152,547,064	V807G	probably benign	Het
Nsd1	T	C	13: 55,246,043	S589P	possibly damaging	Het
Oas1b	T	A	5: 120,814,485	N80K	probably damaging	Het
Olfr1055	G	A	2: 86,347,239	H176Y	probably benign	Het
Olfr1135	A	T	2: 87,671,761	I202N	probably benign	Het
Oprk1	T	A	1: 5,598,873	C181S	probably damaging	Het
Oprl1	T	A	2: 181,718,419	N89K	probably damaging	Het
Pdcd11	A	G	19: 47,129,302	K1697E	probably damaging	Het
Pdp1	G	A	4: 11,961,607	H254Y	probably benign	Het
Pds5b	A	T	5: 150,805,663	D1419V	possibly damaging	Het
Per1	G	T	11: 69,100,649	G3V	probably benign	Het
Pex16	C	A	2: 92,376,643	N55K	probably damaging	Het
Phldb2	C	A	16: 45,774,977	L862F	probably benign	Het
Pld5	T	A	1: 175,964,006	D478V	probably benign	Het
Pms2	T	C	5: 143,914,796	I177T	probably damaging	Het
Pou1f1	A	T	16: 65,529,872	E119D	probably benign	Het
Ppp2r1a	A	C	17: 20,958,796	E295A	probably damaging	Het
Rad51ap2	A	T	12: 11,457,592	N505I	possibly damaging	Het
Rasal3	A	C	17: 32,396,562	V434G	probably damaging	Het
Rasgrf2	C	T	13: 91,987,973	V6M		Het
Rwdd1	A	T	10: 34,001,156	D197E		Het
Scn11a	A	T	9: 119,790,010	C755*	probably null	Het
Skil	T	C	3: 31,116,860	S443P	probably benign	Het
Slc12a6	T	C	2: 112,356,472	C939R	probably damaging	Het
Slc25a36	A	G	9: 97,079,177	S269P	probably benign	Het
Styk1	CTCTTCATGATTTTCTT	CTCTT	6: 131,301,649		probably benign	Het
Tbc1d4	A	T	14: 101,507,410	V260E	probably benign	Het
Tbc1d8	T	C	1: 39,385,232	N593D	probably damaging	Het
Trex1	C	A	9: 109,058,737	R62L	probably damaging	Het
Trpm3	A	T	19: 22,715,352	D269V	possibly damaging	Het
Trpv4	G	T	5: 114,633,150	Y439*	probably null	Het
Ttn	G	A	2: 76,734,248	T28515I	probably damaging	Het
Ucn2	G	A	9: 108,986,503	G111D	probably damaging	Het
Uhrf2	A	G	19: 30,056,481	I212V	possibly damaging	Het
Usp24	T	A	4: 106,347,367	M261K	probably benign	Het
Vmn1r235	A	T	17: 21,261,698	D95V	probably benign	Het
Vwf	G	A	6: 125,624,573	R826Q		Het
Zfp28	T	C	7: 6,393,879	C438R	probably damaging	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
R3522:Srrm4	UTSW	5	116446544	start codon destroyed	probably null
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
Z1176:Srrm4	UTSW	5	116453419	nonsense	probably null
Z1177:Srrm4	UTSW	5	116453636	missense	unknown

Predicted Primers

PCR Primer
(F):5'- ACCCATTTAGTGCCTGGATC -3'
(R):5'- TGATTCTAAATGCCCTGACAGG -3'

Sequencing Primer
(F):5'- GTTGTGACAACAGCCATTGAGTCC -3'
(R):5'- CCTGACAGGCTTGCCTC -3'

Posted On

2022-10-06