Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00087:Srsf6'

1823

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Srsf6

Ensembl Gene

ENSMUSG00000016921

Gene Name

serine/arginine-rich splicing factor 6

Synonyms

Sfrs6, 1210001E11Rik

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.724) question?

Stock #

IGL00087

Quality Score

Status

Chromosome

Chromosomal Location

162931528-162937121 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 162931707 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 13 (V13F)

Ref Sequence

ENSEMBL: ENSMUSP00000119065 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017065] [ENSMUST00000126163] [ENSMUST00000130411]

Predicted Effect

probably damaging
Transcript: ENSMUST00000017065
AA Change: V13F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000142183
Gene: ENSMUSG00000016921
AA Change: V13F

Domain	Start	End	E-Value	Type
RRM	3	68	2.62e-18	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000126163
AA Change: V13F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000141349
Gene: ENSMUSG00000016921
AA Change: V13F

Domain	Start	End	E-Value	Type
RRM	3	68	2.62e-18	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000130411
AA Change: V13F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000119065
Gene: ENSMUSG00000016921
AA Change: V13F

Domain	Start	End	E-Value	Type
RRM	3	68	2.62e-18	SMART
low complexity region	74	100	N/A	INTRINSIC
RRM	111	179	6.97e-14	SMART
low complexity region	184	280	N/A	INTRINSIC
low complexity region	291	303	N/A	INTRINSIC
low complexity region	313	338	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193611

Coding Region Coverage

Validation Efficiency

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. [provided by RefSeq, Sep 2010]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432M17Rik	C	A	3: 121,679,633		probably benign	Het
4930572O03Rik	C	A	5: 15,656,886		probably benign	Het
Actr2	C	A	11: 20,094,370	V79L	probably benign	Het
Ankrd36	A	C	11: 5,620,131	Y533S	probably benign	Het
Btnl1	A	T	17: 34,381,117	D198V	probably damaging	Het
Carmil2	T	A	8: 105,691,406	I684N	probably benign	Het
Ccdc129	T	A	6: 55,968,037	L581Q	possibly damaging	Het
Cdk17	T	A	10: 93,226,771	V257D	probably damaging	Het
Ctsj	T	G	13: 61,001,418	S271R	possibly damaging	Het
Cul9	T	A	17: 46,525,709	Q1130L	probably damaging	Het
Daam1	G	T	12: 71,942,219	S131I	unknown	Het
Dab1	G	A	4: 104,678,810	V139M	probably damaging	Het
Dab1	A	T	4: 104,678,753	I120F	possibly damaging	Het
Dnah2	A	G	11: 69,492,672	V1142A	possibly damaging	Het
Dsg1b	C	T	18: 20,396,476	T326I	probably damaging	Het
Eif3k	A	C	7: 28,974,676		probably benign	Het
Fam76b	T	C	9: 13,836,884	V3A	possibly damaging	Het
Fitm2	A	G	2: 163,469,792	V167A	probably benign	Het
Gfap	T	A	11: 102,888,718	I418F	possibly damaging	Het
Gm8857	C	T	5: 10,947,838		probably benign	Het
Grm5	T	C	7: 88,130,781	V1143A	probably benign	Het
Itpr2	A	G	6: 146,397,012	I317T	probably damaging	Het
Kcnn2	A	C	18: 45,592,236	R266S	probably damaging	Het
Kntc1	T	A	5: 123,790,159	S1240T	probably benign	Het
Lmnb2	T	C	10: 80,904,037	D490G	possibly damaging	Het
Muc4	G	A	16: 32,754,086	G1321R	probably benign	Het
Olfr401	A	T	11: 74,121,879	I197F	probably benign	Het
Pax9	A	G	12: 56,700,075	N232S	probably benign	Het
Pdcd6ip	A	G	9: 113,697,518	S108P	possibly damaging	Het
Pitpnc1	T	C	11: 107,212,643	E210G	possibly damaging	Het
Prdm10	T	C	9: 31,360,812		probably benign	Het
Prl4a1	G	A	13: 28,021,460	G136E	probably damaging	Het
Pstpip2	A	G	18: 77,874,294	S255G	probably benign	Het
Rimbp3	T	G	16: 17,209,743	S344A	probably benign	Het
Rint1	A	G	5: 23,794,431	T73A	probably benign	Het
Rnf145	T	C	11: 44,555,212	V291A	possibly damaging	Het
Rrm1	T	A	7: 102,454,507	L221*	probably null	Het
Scn11a	A	G	9: 119,770,506	L1114P	probably benign	Het
Slc44a4	A	G	17: 34,930,240		probably benign	Het
Sorl1	A	C	9: 41,974,094	N2070K	probably damaging	Het
Spaca7	C	T	8: 12,580,941		probably benign	Het
Stab1	G	T	14: 31,161,357	T336N	probably benign	Het
Strbp	A	G	2: 37,586,504		probably benign	Het
Tbc1d4	A	G	14: 101,608,112	F117L	probably damaging	Het
Tcf20	A	G	15: 82,854,895	V785A	probably damaging	Het
Ticrr	A	G	7: 79,677,283	K580E	probably damaging	Het
Ubr4	A	T	4: 139,465,322	E4225D	possibly damaging	Het
Uck1	A	T	2: 32,259,669	V66D	probably damaging	Het
Vmn2r25	A	G	6: 123,853,171	F7S	probably benign	Het
Zan	C	T	5: 137,387,820		probably null	Het
Zfp819	T	A	7: 43,611,979		probably benign	Het

Other mutations in Srsf6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01960:Srsf6	APN	2	162933754	missense	probably damaging	1.00
R1292:Srsf6	UTSW	2	162934483	unclassified	probably benign
R1789:Srsf6	UTSW	2	162934488	unclassified	probably benign
R1936:Srsf6	UTSW	2	162934483	unclassified	probably benign
R1937:Srsf6	UTSW	2	162934483	unclassified	probably benign
R1939:Srsf6	UTSW	2	162934483	unclassified	probably benign
R1940:Srsf6	UTSW	2	162934483	unclassified	probably benign
R2225:Srsf6	UTSW	2	162931699	missense	probably damaging	1.00
R2226:Srsf6	UTSW	2	162931699	missense	probably damaging	1.00
R2227:Srsf6	UTSW	2	162931699	missense	probably damaging	1.00
R4026:Srsf6	UTSW	2	162934291	unclassified	probably benign
R4290:Srsf6	UTSW	2	162934716	unclassified	probably benign
R4292:Srsf6	UTSW	2	162934716	unclassified	probably benign
R4293:Srsf6	UTSW	2	162934716	unclassified	probably benign
R4294:Srsf6	UTSW	2	162934716	unclassified	probably benign
R4295:Srsf6	UTSW	2	162934716	unclassified	probably benign
R4592:Srsf6	UTSW	2	162931723	missense	probably damaging	0.99
R4613:Srsf6	UTSW	2	162933709	missense	probably benign	0.45
R4657:Srsf6	UTSW	2	162933427	missense	probably benign	0.01
R7378:Srsf6	UTSW	2	162934569	missense	unknown
R7446:Srsf6	UTSW	2	162934716	missense	unknown
R7578:Srsf6	UTSW	2	162932862	missense	probably benign	0.00
R7730:Srsf6	UTSW	2	162931723	missense	probably damaging	0.99
R7908:Srsf6	UTSW	2	162933840	missense	unknown
R7989:Srsf6	UTSW	2	162933840	missense	unknown
X0020:Srsf6	UTSW	2	162933498	missense	probably damaging	1.00

Posted On

2011-07-12