Mutagenetix > Incidental Mutation

Incidental Mutation 'R0412:Srsf10'

36704

Institutional Source

Beutler Lab

Gene Symbol

Srsf10

Ensembl Gene

ENSMUSG00000028676

Gene Name

serine and arginine-rich splicing factor 10

Synonyms

SRrp40, NSSR2, Srsf13a, Nssr, FUSIP2, TASR1, Fusip1, Sfrs13a, NSSR1, TASR2

MMRRC Submission

038614-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0412 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

135583058-135597219 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 135585714 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 55 (Y55C)

Ref Sequence

ENSEMBL: ENSMUSP00000114564 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000097844] [ENSMUST00000102544] [ENSMUST00000105853] [ENSMUST00000126641]

AlphaFold

Q9R0U0

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000030438

Predicted Effect

probably damaging
Transcript: ENSMUST00000097844
AA Change: Y55C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000095455
Gene: ENSMUSG00000028676
AA Change: Y55C

Domain	Start	End	E-Value	Type
RRM	11	84	2.72e-25	SMART
low complexity region	105	157	N/A	INTRINSIC
low complexity region	163	184	N/A	INTRINSIC
low complexity region	217	259	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000102544
AA Change: Y55C

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

SMART Domains

Protein: ENSMUSP00000099603
Gene: ENSMUSG00000028676
AA Change: Y55C

Domain	Start	End	E-Value	Type
RRM	11	84	2.72e-25	SMART
low complexity region	105	157	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000105853
AA Change: Y55C

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

SMART Domains

Protein: ENSMUSP00000101479
Gene: ENSMUSG00000028676
AA Change: Y55C

Domain	Start	End	E-Value	Type
RRM	11	84	2.72e-25	SMART
low complexity region	105	160	N/A	INTRINSIC
low complexity region	164	185	N/A	INTRINSIC
low complexity region	218	260	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000120937

Predicted Effect

probably damaging
Transcript: ENSMUST00000126641
AA Change: Y55C

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

SMART Domains

Protein: ENSMUSP00000114564
Gene: ENSMUSG00000028676
AA Change: Y55C

Domain	Start	End	E-Value	Type
RRM	11	84	2.72e-25	SMART
low complexity region	105	160	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129198

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154447

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129718

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142002

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149878

Meta Mutation Damage Score

0.7451

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.8%
20x: 90.2%

Validation Efficiency

94% (67/71)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene product is a member of the serine-arginine (SR) family of proteins, which are involved in constitutive and regulated RNA splicing. Members of this family are characterized by N-terminal RNP1 and RNP2 motifs, which are required for binding to RNA, and multiple C-terminal SR/RS repeats, which are important in mediating association with other cellular proteins. This protein interacts with the oncoprotein TLS, and abrogates the influence of TLS on adenovirus E1A pre-mRNA splicing. This gene has pseudogenes on chromosomes 4, 9, 14, 18, and 20. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous for a null allele exhibit fetal and neonatal lethality associated with edema and cardiac defects. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arap1	C	A	7: 101,039,429 (GRCm39)	A563D	probably damaging	Het
Arhgap28	G	A	17: 68,203,253 (GRCm39)	L67F	probably damaging	Het
Atp7b	G	T	8: 22,485,675 (GRCm39)		probably null	Het
Auts2	A	G	5: 131,475,669 (GRCm39)	F485L	probably benign	Het
Ccdc68	A	G	18: 70,093,510 (GRCm39)	E239G	probably damaging	Het
Cdc42bpg	T	G	19: 6,363,487 (GRCm39)	L449R	probably damaging	Het
Colgalt2	G	T	1: 152,384,312 (GRCm39)	A551S	possibly damaging	Het
Ddx41	G	T	13: 55,678,421 (GRCm39)	S630Y	probably damaging	Het
Dntt	T	C	19: 41,031,372 (GRCm39)	L274P	probably damaging	Het
Fhl4	G	T	10: 84,934,680 (GRCm39)	H34N	possibly damaging	Het
Filip1	A	T	9: 79,727,571 (GRCm39)	N349K	possibly damaging	Het
Gm9894	C	T	13: 67,913,145 (GRCm39)		noncoding transcript	Het
Gpr179	A	G	11: 97,229,633 (GRCm39)	S841P	probably damaging	Het
Gpr35	G	T	1: 92,910,506 (GRCm39)	V73L	probably benign	Het
Grik5	A	G	7: 24,713,099 (GRCm39)	V809A	possibly damaging	Het
H2-T13	T	A	17: 36,392,413 (GRCm39)		probably benign	Het
Heatr5b	T	C	17: 79,128,283 (GRCm39)	T451A	probably benign	Het
Hmcn2	G	A	2: 31,278,259 (GRCm39)	V1654M	probably damaging	Het
Htra3	G	T	5: 35,828,409 (GRCm39)	A157E	probably damaging	Het
Igf2r	A	T	17: 12,902,835 (GRCm39)	V2405D	probably damaging	Het
Irs3	C	A	5: 137,642,139 (GRCm39)	R433L	probably benign	Het
Kcmf1	G	A	6: 72,825,224 (GRCm39)	Q239*	probably null	Het
Kcnk9	A	G	15: 72,384,905 (GRCm39)		probably benign	Het
Kif28	A	G	1: 179,530,091 (GRCm39)	V622A	probably benign	Het
Klrb1f	A	T	6: 129,031,294 (GRCm39)	I164F	probably benign	Het
Lama2	A	G	10: 27,066,621 (GRCm39)	S1087P	possibly damaging	Het
Mchr1	A	T	15: 81,119,948 (GRCm39)		probably benign	Het
Mcidas	A	G	13: 113,135,677 (GRCm39)	T367A	probably damaging	Het
Mphosph8	A	C	14: 56,911,870 (GRCm39)	K298Q	probably damaging	Het
Mroh2a	G	T	1: 88,162,938 (GRCm39)	Q360H	probably benign	Het
Mst1	A	C	9: 107,960,793 (GRCm39)	D461A	probably benign	Het
Nckap1l	A	T	15: 103,373,079 (GRCm39)	S311C	probably benign	Het
Or2y1	T	A	11: 49,385,594 (GRCm39)	V78E	probably damaging	Het
Or4c125	T	A	2: 89,170,422 (GRCm39)	M75L	probably benign	Het
Or5m9b	C	T	2: 85,905,435 (GRCm39)	A117V	probably benign	Het
Or8c11	A	C	9: 38,290,090 (GRCm39)	K298N	probably damaging	Het
Pde3a	T	G	6: 141,444,410 (GRCm39)	C1073G	probably damaging	Het
Pkhd1	T	C	1: 20,188,012 (GRCm39)	D3432G	probably damaging	Het
Ppargc1b	G	T	18: 61,448,932 (GRCm39)	P130Q	probably damaging	Het
Ppp6r1	A	G	7: 4,645,213 (GRCm39)	I228T	probably damaging	Het
Pram1	A	G	17: 33,860,480 (GRCm39)	N349S	probably benign	Het
Ranbp6	C	T	19: 29,789,483 (GRCm39)	V290I	possibly damaging	Het
Rcan3	A	T	4: 135,143,914 (GRCm39)		probably null	Het
Scn8a	G	C	15: 100,906,187 (GRCm39)		probably benign	Het
Slc12a5	C	T	2: 164,835,982 (GRCm39)	T900M	probably benign	Het
Syt7	G	T	19: 10,421,444 (GRCm39)	E450*	probably null	Het
Tbrg4	T	C	11: 6,573,832 (GRCm39)	K130R	probably benign	Het
Tgm7	C	A	2: 120,931,546 (GRCm39)	V206F	probably damaging	Het
Tmem131l	T	C	3: 83,938,955 (GRCm39)	D67G	probably damaging	Het
Ttc7	A	G	17: 87,637,472 (GRCm39)	K409R	probably benign	Het
Unc80	A	T	1: 66,590,096 (GRCm39)		probably benign	Het
Vmn1r171	C	T	7: 23,332,080 (GRCm39)	L102F	possibly damaging	Het
Vmn2r59	A	C	7: 41,695,916 (GRCm39)		probably benign	Het
Vsig2	A	G	9: 37,453,986 (GRCm39)	R191G	probably damaging	Het
Wdr86	T	A	5: 24,923,232 (GRCm39)	Q153H	probably benign	Het
Wdr87-ps	C	G	7: 29,229,995 (GRCm39)		noncoding transcript	Het
Xxylt1	T	A	16: 30,826,616 (GRCm39)	N233I	probably damaging	Het
Zfp160	A	T	17: 21,247,139 (GRCm39)	E563V	probably damaging	Het
Zfp345	T	A	2: 150,315,323 (GRCm39)	E71D	probably benign	Het
Zfp541	A	G	7: 15,816,099 (GRCm39)	D862G	possibly damaging	Het
Zfp639	A	C	3: 32,571,259 (GRCm39)	Q47P	possibly damaging	Het

Other mutations in Srsf10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0378:Srsf10	UTSW	4	135,590,501 (GRCm39)	missense	possibly damaging	0.96
R0540:Srsf10	UTSW	4	135,591,179 (GRCm39)	missense	possibly damaging	0.66
R1733:Srsf10	UTSW	4	135,590,476 (GRCm39)	missense	possibly damaging	0.53
R4957:Srsf10	UTSW	4	135,583,541 (GRCm39)	missense	probably damaging	1.00
R5644:Srsf10	UTSW	4	135,591,131 (GRCm39)	missense	possibly damaging	0.83
R5935:Srsf10	UTSW	4	135,583,553 (GRCm39)	missense	probably damaging	0.98
R6645:Srsf10	UTSW	4	135,590,874 (GRCm39)	missense	possibly damaging	0.83
R7229:Srsf10	UTSW	4	135,583,528 (GRCm39)	start gained	probably benign
R9703:Srsf10	UTSW	4	135,591,153 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TGTATGGTGTAATCCCCATCCCGAG -3'
(R):5'- CACTGATTTGAGTTTCAGCAGCAAGG -3'

Sequencing Primer
(F):5'- cagagtttctccatgtaactaacc -3'
(R):5'- TTTCAGCAGCAAGGATGGG -3'

Posted On

2013-05-09