Mutagenetix > Incidental Mutation

Incidental Mutation 'R9498:Srsf6'

717346

Institutional Source

Beutler Lab

Gene Symbol

Srsf6

Ensembl Gene

ENSMUSG00000016921

Gene Name

serine and arginine-rich splicing factor 6

Synonyms

1210001E11Rik, Sfrs6

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.778) question?

Stock #

R9498 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

162773448-162779041 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 162774009 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 68 (E68G)

Ref Sequence

ENSEMBL: ENSMUSP00000119065 (fasta)

Gene Model

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

AlphaFold

Q3TWW8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000017065
AA Change: E68G

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000142183
Gene: ENSMUSG00000016921
AA Change: E68G

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000126163
AA Change: E68G

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000141349
Gene: ENSMUSG00000016921
AA Change: E68G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000130411
AA Change: E68G

PolyPhen 2 Score 0.067 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000119065
Gene: ENSMUSG00000016921
AA Change: E68G

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2200002D01Rik	CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	7: 28,947,048 (GRCm39)		probably benign	Het
Aadacl3	A	G	4: 144,182,989 (GRCm39)	Y160H	probably damaging	Het
Abca17	T	C	17: 24,484,480 (GRCm39)	Y1594C	probably damaging	Het
Abca8a	T	C	11: 109,977,374 (GRCm39)	I128M	probably damaging	Het
Abhd12b	A	G	12: 70,210,237 (GRCm39)	I138V	probably benign	Het
Adcy8	G	A	15: 64,792,045 (GRCm39)	L304F	possibly damaging	Het
Alb	T	C	5: 90,617,362 (GRCm39)	F354L	probably damaging	Het
Ampd3	T	A	7: 110,409,053 (GRCm39)	S688R	probably damaging	Het
Aoc1l3	AGGCCCAGCCTGATCCTAAATTTCCTATCCCCATCAGCAAAGGTGGCCCTCAAGTGGCCCAGCC	AGGCCCAGCC	6: 48,964,952 (GRCm39)		probably benign	Het
Areg	T	G	5: 91,294,553 (GRCm39)	L237R	probably damaging	Het
Arhgef11	A	G	3: 87,640,484 (GRCm39)	S1243G	probably benign	Het
B3glct	A	G	5: 149,673,894 (GRCm39)		probably null	Het
Casp7	T	A	19: 56,424,767 (GRCm39)	L162Q	probably damaging	Het
Cdh20	A	G	1: 109,976,635 (GRCm39)	N100S	probably benign	Het
Cdh22	G	T	2: 164,954,490 (GRCm39)	T677N	probably damaging	Het
Cmtm5	T	A	14: 55,174,205 (GRCm39)	S31T	probably benign	Het
Col6a3	T	A	1: 90,713,650 (GRCm39)	R2295*	probably null	Het
Cpa6	T	C	1: 10,479,546 (GRCm39)	N229S	possibly damaging	Het
Dagla	G	T	19: 10,232,218 (GRCm39)	Y489*	probably null	Het
Dnah7b	A	G	1: 46,253,564 (GRCm39)	K1823R	probably benign	Het
Dnah9	T	C	11: 65,739,199 (GRCm39)	N4180D	probably damaging	Het
Dsg3	A	C	18: 20,658,278 (GRCm39)	E296D	probably damaging	Het
Ednra	A	T	8: 78,446,934 (GRCm39)	L48Q	probably benign	Het
Esco2	T	C	14: 66,068,752 (GRCm39)	D186G	probably benign	Het
Foxj2	A	G	6: 122,819,792 (GRCm39)	D560G	probably damaging	Het
Frmd3	G	A	4: 74,038,055 (GRCm39)	M105I	probably benign	Het
Gria4	A	T	9: 4,503,560 (GRCm39)		probably null	Het
Hrob	T	C	11: 102,150,167 (GRCm39)	S410P	probably benign	Het
Ifi204	T	C	1: 173,583,537 (GRCm39)	E227G	possibly damaging	Het
Lgalsl	T	A	11: 20,779,439 (GRCm39)	I69F	possibly damaging	Het
Myo15b	A	G	11: 115,770,784 (GRCm39)	T1588A		Het
Myo9a	A	G	9: 59,734,466 (GRCm39)	S683G	probably damaging	Het
Ncam2	T	C	16: 81,309,887 (GRCm39)	I459T	probably benign	Het
Nedd4l	T	C	18: 65,294,723 (GRCm39)		probably null	Het
Nfic	T	C	10: 81,256,502 (GRCm39)	E54G	probably damaging	Het
Nrxn1	T	C	17: 90,897,397 (GRCm39)	T920A	probably damaging	Het
Obsl1	C	T	1: 75,467,484 (GRCm39)	C1430Y	probably damaging	Het
Or8k17	A	G	2: 86,066,838 (GRCm39)	F107L	probably damaging	Het
Pcbp2	G	A	15: 102,406,941 (GRCm39)	G357D	probably benign	Het
Pcdhb1	A	G	18: 37,398,516 (GRCm39)	S156G	probably damaging	Het
Pcdhb15	A	T	18: 37,606,890 (GRCm39)	R41*	probably null	Het
Pde1b	A	T	15: 103,435,489 (GRCm39)	D448V	probably benign	Het
Pex7	G	A	10: 19,762,859 (GRCm39)	R227*	probably null	Het
Pkp1	T	A	1: 135,817,820 (GRCm39)	Y105F	probably benign	Het
Plbd1	T	C	6: 136,589,244 (GRCm39)	T529A	possibly damaging	Het
Plxnc1	C	G	10: 94,649,004 (GRCm39)	Q1258H	possibly damaging	Het
Prr36	T	A	8: 4,263,291 (GRCm39)	T792S	unknown	Het
Rasgrf1	A	T	9: 89,826,921 (GRCm39)	T177S	probably benign	Het
Rbm14	A	G	19: 4,853,495 (GRCm39)	S296P	probably benign	Het
Rfx8	T	C	1: 39,724,674 (GRCm39)	Y229C	probably damaging	Het
Rgs3	A	T	4: 62,575,412 (GRCm39)	S600C	probably damaging	Het
Slc29a4	T	A	5: 142,704,233 (GRCm39)	S296T	probably benign	Het
Speer4a3	AACT	A	5: 26,155,849 (GRCm39)		probably benign	Het
Syt13	A	T	2: 92,781,749 (GRCm39)	N317Y	possibly damaging	Het
Tars2	A	T	3: 95,647,553 (GRCm39)	L701Q	probably damaging	Het
Tbc1d16	A	T	11: 119,048,681 (GRCm39)	V324E	probably damaging	Het
Tbc1d21	A	G	9: 58,273,924 (GRCm39)	L84P	probably damaging	Het
Trappc6b	A	G	12: 59,097,127 (GRCm39)	M65T	possibly damaging	Het
Tubb1	A	G	2: 174,299,403 (GRCm39)	N362D	probably benign	Het
Tubgcp5	C	T	7: 55,463,233 (GRCm39)	T475M	possibly damaging	Het
Ugt2b37	T	C	5: 87,402,244 (GRCm39)	K129R	probably benign	Het
Vmn2r55	A	G	7: 12,404,812 (GRCm39)	V197A	probably damaging	Het
Wfdc3	G	A	2: 164,584,997 (GRCm39)	L4F	possibly damaging	Het
Zfp141	T	A	7: 42,125,770 (GRCm39)	Q234L	probably benign	Het
Zfp850	T	C	7: 27,689,275 (GRCm39)	K311R	possibly damaging	Het

Other mutations in Srsf6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00087:Srsf6	APN	2	162,773,627 (GRCm39)	missense	probably damaging	1.00
IGL01960:Srsf6	APN	2	162,775,674 (GRCm39)	missense	probably damaging	1.00
R1292:Srsf6	UTSW	2	162,776,403 (GRCm39)	unclassified	probably benign
R1789:Srsf6	UTSW	2	162,776,408 (GRCm39)	unclassified	probably benign
R1936:Srsf6	UTSW	2	162,776,403 (GRCm39)	unclassified	probably benign
R1937:Srsf6	UTSW	2	162,776,403 (GRCm39)	unclassified	probably benign
R1939:Srsf6	UTSW	2	162,776,403 (GRCm39)	unclassified	probably benign
R1940:Srsf6	UTSW	2	162,776,403 (GRCm39)	unclassified	probably benign
R2225:Srsf6	UTSW	2	162,773,619 (GRCm39)	missense	probably damaging	1.00
R2226:Srsf6	UTSW	2	162,773,619 (GRCm39)	missense	probably damaging	1.00
R2227:Srsf6	UTSW	2	162,773,619 (GRCm39)	missense	probably damaging	1.00
R4026:Srsf6	UTSW	2	162,776,211 (GRCm39)	unclassified	probably benign
R4290:Srsf6	UTSW	2	162,776,636 (GRCm39)	unclassified	probably benign
R4292:Srsf6	UTSW	2	162,776,636 (GRCm39)	unclassified	probably benign
R4293:Srsf6	UTSW	2	162,776,636 (GRCm39)	unclassified	probably benign
R4294:Srsf6	UTSW	2	162,776,636 (GRCm39)	unclassified	probably benign
R4295:Srsf6	UTSW	2	162,776,636 (GRCm39)	unclassified	probably benign
R4592:Srsf6	UTSW	2	162,773,643 (GRCm39)	missense	probably damaging	0.99
R4613:Srsf6	UTSW	2	162,775,629 (GRCm39)	missense	probably benign	0.45
R4657:Srsf6	UTSW	2	162,775,347 (GRCm39)	missense	probably benign	0.01
R7378:Srsf6	UTSW	2	162,776,489 (GRCm39)	missense	unknown
R7446:Srsf6	UTSW	2	162,776,636 (GRCm39)	missense	unknown
R7578:Srsf6	UTSW	2	162,774,782 (GRCm39)	missense	probably benign	0.00
R7730:Srsf6	UTSW	2	162,773,643 (GRCm39)	missense	probably damaging	0.99
R7908:Srsf6	UTSW	2	162,775,760 (GRCm39)	missense	unknown
X0020:Srsf6	UTSW	2	162,775,418 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TAGGACGCCTGAGCTACAAC -3'
(R):5'- TGGCAGAACCCAAGTCAGTG -3'

Sequencing Primer
(F):5'- GAGAAGGACATCCAGCGCTTTTTC -3'
(R):5'- CCCAAGTCAGTGCCAAAGAGG -3'

Posted On

2022-07-18