Mutagenetix > Incidental Mutation

Incidental Mutation 'R8099:Srsf1'

630415

Institutional Source

Beutler Lab

Gene Symbol

Srsf1

Ensembl Gene

ENSMUSG00000018379

Gene Name

serine and arginine-rich splicing factor 1

Synonyms

1110054N12Rik, 6330415C05Rik, 5730507C05Rik, Sfrs1

MMRRC Submission

067531-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8099 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

87938199-87944581 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 87940082 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 198 (I198T)

Ref Sequence

ENSEMBL: ENSMUSP00000133517 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079866] [ENSMUST00000107920] [ENSMUST00000139129]

AlphaFold

Q6PDM2

Predicted Effect

probably benign
Transcript: ENSMUST00000079866
AA Change: I198T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000133517
Gene: ENSMUSG00000018379
AA Change: I198T

Domain	Start	End	E-Value	Type
RRM	17	87	2.85e-19	SMART
low complexity region	89	119	N/A	INTRINSIC
RRM	122	188	4.97e-10	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000107920

SMART Domains

Protein: ENSMUSP00000103553
Gene: ENSMUSG00000018379

Domain	Start	End	E-Value	Type
RRM	17	87	2.85e-19	SMART
low complexity region	89	119	N/A	INTRINSIC
RRM	122	188	1.39e-8	SMART
low complexity region	196	246	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000134824

SMART Domains

Protein: ENSMUSP00000114549
Gene: ENSMUSG00000018379

Domain	Start	End	E-Value	Type
low complexity region	2	28	N/A	INTRINSIC
RRM	32	98	1.43e-10	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000139129

SMART Domains

Protein: ENSMUSP00000120595
Gene: ENSMUSG00000018379

Domain	Start	End	E-Value	Type
RRM	17	87	2.85e-19	SMART
low complexity region	89	119	N/A	INTRINSIC
RRM	122	188	1.39e-8	SMART
low complexity region	196	247	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000172186

SMART Domains

Protein: ENSMUSP00000128190
Gene: ENSMUSG00000018379

Domain	Start	End	E-Value	Type
SCOP:d1fjeb2	17	43	5e-3	SMART
PDB:2M8D\|B	22	47	8e-12	PDB
Blast:RRM	25	47	1e-8	BLAST

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.3%
20x: 98.1%

Validation Efficiency

97% (60/62)

MGI Phenotype

FUNCTION: The protein encoded by this gene is a member of the serine/arginine (SR)-rich family of pre-mRNA splicing factors, which constitute part of the spliceosome. Each of these factors contains an RNA recognition motif (RRM) for binding RNA and an RS domain for binding other proteins. The RS domain is rich in serine and arginine residues and facilitates interaction between different SR splicing factors. In addition to being critical for mRNA splicing, the SR proteins have also been shown to be involved in mRNA export from the nucleus and in translation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2010]
PHENOTYPE: Homozygous null mice display early embryonic lethality. Cardiac specific conditional deletion mutants shows cardiac malfunction and premature death. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930012K11Rik	T	C	14: 70,394,969 (GRCm39)	R62G	probably benign	Het
Abcb9	A	G	5: 124,215,308 (GRCm39)	F478L	probably benign	Het
Abcc9	A	T	6: 142,621,257 (GRCm39)	N494K	probably damaging	Het
Atp11a	T	G	8: 12,911,973 (GRCm39)	M124R		Het
C1ra	G	A	6: 124,494,684 (GRCm39)	E316K	probably benign	Het
Ccdc110	T	A	8: 46,395,130 (GRCm39)	H340Q	probably damaging	Het
Celsr1	A	G	15: 85,915,801 (GRCm39)	L724P	probably damaging	Het
Cfap74	A	G	4: 155,539,489 (GRCm39)	N938S	unknown	Het
Chil3	T	G	3: 106,055,984 (GRCm39)	D363A	probably damaging	Het
Ciart	G	A	3: 95,788,656 (GRCm39)	P61L	probably damaging	Het
Cpne3	A	G	4: 19,525,169 (GRCm39)	V442A	possibly damaging	Het
Ctsh	T	C	9: 89,946,300 (GRCm39)	V130A	probably damaging	Het
Cyp3a44	T	C	5: 145,725,212 (GRCm39)	K330E	probably benign	Het
Dgcr2	A	T	16: 17,667,633 (GRCm39)	D275E	probably damaging	Het
Dnah1	A	T	14: 31,024,321 (GRCm39)	D919E	probably benign	Het
Ell3	TCTCCTC	TCTC	2: 121,269,937 (GRCm39)		probably benign	Het
Entrep3	T	C	3: 89,091,250 (GRCm39)	F74L	probably damaging	Het
Epb41l3	T	A	17: 69,554,683 (GRCm39)	F261Y	possibly damaging	Het
Fbxo3	A	C	2: 103,885,280 (GRCm39)	H383P	probably damaging	Het
Foxp1	C	T	6: 98,922,510 (GRCm39)	V441M	unknown	Het
Gm29106	C	T	1: 118,126,521 (GRCm39)	S71F	probably benign	Het
Golga3	T	A	5: 110,336,573 (GRCm39)	L364*	probably null	Het
H1f1	C	T	13: 23,947,832 (GRCm39)	L45F	probably damaging	Het
Herc1	T	A	9: 66,279,422 (GRCm39)	L110H	probably damaging	Het
Igkv4-53	A	T	6: 69,625,898 (GRCm39)	S90T	possibly damaging	Het
Kctd17	CAGCTGGAGGAGC	CAGC	15: 78,321,113 (GRCm39)		probably benign	Het
Kti12	G	T	4: 108,705,571 (GRCm39)	G162W	probably damaging	Het
Lama3	T	A	18: 12,667,120 (GRCm39)	I763N	probably damaging	Het
Macf1	A	T	4: 123,369,922 (GRCm39)	I1613K	probably benign	Het
Mkrn1	T	C	6: 39,387,031 (GRCm39)	D102G	probably benign	Het
Muc2	T	A	7: 141,299,175 (GRCm39)		probably null	Het
Nipal4	T	C	11: 46,052,848 (GRCm39)	E39G	probably benign	Het
Nr1h2	T	C	7: 44,199,746 (GRCm39)	Y391C	possibly damaging	Het
Odam	T	C	5: 88,040,299 (GRCm39)	I255T	possibly damaging	Het
Or11m3	A	G	15: 98,395,694 (GRCm39)	M114V	probably benign	Het
Or6c35	T	A	10: 129,168,996 (GRCm39)	I82K	probably damaging	Het
Or9m1	T	A	2: 87,733,852 (GRCm39)	H56L	probably damaging	Het
Per3	A	T	4: 151,097,014 (GRCm39)	M837K	possibly damaging	Het
Pitpnm3	T	A	11: 71,961,144 (GRCm39)	H357L	possibly damaging	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Plcb1	T	C	2: 135,093,654 (GRCm39)	Y156H	possibly damaging	Het
Ppm1d	C	T	11: 85,230,492 (GRCm39)	P370L	possibly damaging	Het
Prrc2b	T	C	2: 32,098,686 (GRCm39)	V666A	probably benign	Het
Ptpn3	A	T	4: 57,204,985 (GRCm39)	C725*	probably null	Het
Rapgefl1	T	C	11: 98,738,209 (GRCm39)	W437R	probably damaging	Het
Sema4g	T	C	19: 44,980,967 (GRCm39)	L5P	probably damaging	Het
Sipa1l1	C	T	12: 82,480,600 (GRCm39)	P1529L	probably benign	Het
Slc12a2	T	C	18: 58,032,464 (GRCm39)	L388P	probably damaging	Het
Sltm	T	A	9: 70,493,360 (GRCm39)	S786T	probably damaging	Het
Ssh2	C	T	11: 77,345,755 (GRCm39)	R1247*	probably null	Het
Ssu2	T	C	6: 112,353,438 (GRCm39)	T229A	probably benign	Het
Stra6	T	A	9: 58,059,777 (GRCm39)	H579Q	probably damaging	Het
Tanc2	T	A	11: 105,754,833 (GRCm39)	V559E	probably benign	Het
Trp53bp1	A	G	2: 121,030,230 (GRCm39)	Y1762H	probably damaging	Het
Usp15	T	C	10: 122,982,826 (GRCm39)	Y263C	possibly damaging	Het
Usp17ld	A	T	7: 102,899,495 (GRCm39)	V479E	probably damaging	Het
Vmn2r15	A	T	5: 109,441,185 (GRCm39)	S224R	possibly damaging	Het
Vmn2r8	A	T	5: 108,949,700 (GRCm39)	N382K	probably benign	Het
Vmn2r94	T	C	17: 18,477,659 (GRCm39)	I251V	probably benign	Het
Wnt2b	A	T	3: 104,854,408 (GRCm39)	V350D	possibly damaging	Het

Other mutations in Srsf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01365:Srsf1	APN	11	87,940,007 (GRCm39)	missense	possibly damaging	0.88
IGL02949:Srsf1	APN	11	87,940,352 (GRCm39)	intron	probably benign
IGL03100:Srsf1	APN	11	87,939,954 (GRCm39)	missense	probably damaging	1.00
R4898:Srsf1	UTSW	11	87,940,788 (GRCm39)	splice site	probably null
R5261:Srsf1	UTSW	11	87,938,684 (GRCm39)	missense	possibly damaging	0.96
R5328:Srsf1	UTSW	11	87,940,819 (GRCm39)	utr 3 prime	probably benign
R5593:Srsf1	UTSW	11	87,938,705 (GRCm39)	missense	possibly damaging	0.47
R5849:Srsf1	UTSW	11	87,938,684 (GRCm39)	missense	possibly damaging	0.56
R6143:Srsf1	UTSW	11	87,940,425 (GRCm39)	intron	probably benign
R7151:Srsf1	UTSW	11	87,940,084 (GRCm39)	nonsense	probably null
R8294:Srsf1	UTSW	11	87,939,467 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TTTTCAGGACTGCCTCCGAG -3'
(R):5'- TTAACCCGGATGTAGGCAGTTTC -3'

Sequencing Primer
(F):5'- CTGGCAGGACTTAAAGGATCAC -3'
(R):5'- GCAGTTTCTCCCTATTGGATAGACAG -3'

Posted On

2020-06-30