Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00907:Srsf5'

28705

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Srsf5

Ensembl Gene

ENSMUSG00000021134

Gene Name

serine and arginine-rich splicing factor 5

Synonyms

Sfrs5

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.570) question?

Stock #

IGL00907

Quality Score

Status

Chromosome

Chromosomal Location

80992308-80997277 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 80994608 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 112 (V112A)

Ref Sequence

ENSEMBL: ENSMUSP00000105985 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094693] [ENSMUST00000110351] [ENSMUST00000110352] [ENSMUST00000110354] [ENSMUST00000110356] [ENSMUST00000138434]

AlphaFold

O35326

Predicted Effect

probably damaging
Transcript: ENSMUST00000094693
AA Change: V112A

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

SMART Domains

Protein: ENSMUSP00000131323
Gene: ENSMUSG00000021134
AA Change: V112A

Domain	Start	End	E-Value	Type
RRM	5	70	4.56e-18	SMART
low complexity region	73	105	N/A	INTRINSIC
RRM	109	177	5.58e-13	SMART
low complexity region	180	230	N/A	INTRINSIC
low complexity region	235	267	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000110351
AA Change: V112A

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

SMART Domains

Protein: ENSMUSP00000105980
Gene: ENSMUSG00000021134
AA Change: V112A

Domain	Start	End	E-Value	Type
RRM	5	70	4.56e-18	SMART
low complexity region	73	105	N/A	INTRINSIC
RRM	109	177	5.58e-13	SMART
low complexity region	180	231	N/A	INTRINSIC
low complexity region	236	268	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000110352
AA Change: V112A

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

SMART Domains

Protein: ENSMUSP00000105981
Gene: ENSMUSG00000021134
AA Change: V112A

Domain	Start	End	E-Value	Type
RRM	5	70	4.56e-18	SMART
low complexity region	73	105	N/A	INTRINSIC
RRM	109	177	5.58e-13	SMART
low complexity region	180	230	N/A	INTRINSIC
low complexity region	235	267	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000110354
AA Change: V112A

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

SMART Domains

Protein: ENSMUSP00000105983
Gene: ENSMUSG00000021134
AA Change: V112A

Domain	Start	End	E-Value	Type
RRM	5	70	4.56e-18	SMART
low complexity region	73	105	N/A	INTRINSIC
RRM	109	177	5.58e-13	SMART
low complexity region	180	231	N/A	INTRINSIC
low complexity region	236	268	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000110356
AA Change: V112A

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

SMART Domains

Protein: ENSMUSP00000105985
Gene: ENSMUSG00000021134
AA Change: V112A

Domain	Start	End	E-Value	Type
RRM	5	70	4.56e-18	SMART
low complexity region	73	105	N/A	INTRINSIC
RRM	109	177	5.58e-13	SMART
low complexity region	180	230	N/A	INTRINSIC
low complexity region	235	267	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125814

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133783

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152662

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151036

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151968

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153056

Predicted Effect

probably benign
Transcript: ENSMUST00000138434

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219062

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, Nov 2016]

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Armt1	A	G	10: 4,454,051 (GRCm38)	F379V	possibly damaging	Het
Atp8b1	T	C	18: 64,694,776 (GRCm39)	D502G	possibly damaging	Het
Brwd3	A	G	X: 107,827,852 (GRCm39)		probably benign	Het
Ccdc171	T	A	4: 83,782,486 (GRCm39)	H1259Q	probably damaging	Het
Chd7	T	C	4: 8,840,435 (GRCm39)	I1401T	probably damaging	Het
Csf1	T	C	3: 107,657,662 (GRCm39)	N76S	probably damaging	Het
Dld	A	G	12: 31,382,329 (GRCm39)		probably benign	Het
Eif5	T	A	12: 111,506,989 (GRCm39)	I141N	probably damaging	Het
Etl4	G	A	2: 20,771,289 (GRCm39)	G674D	possibly damaging	Het
Fam234a	G	A	17: 26,432,500 (GRCm39)	R550W	probably damaging	Het
Hipk2	A	G	6: 38,795,208 (GRCm39)	S347P	probably damaging	Het
Hnrnpm	C	A	17: 33,868,876 (GRCm39)	R517L	probably damaging	Het
Hsd17b2	A	T	8: 118,461,433 (GRCm39)	I157L	probably benign	Het
Ibtk	A	G	9: 85,572,384 (GRCm39)	S1269P	possibly damaging	Het
Igsf3	T	C	3: 101,334,764 (GRCm39)		probably benign	Het
Kin	G	A	2: 10,085,515 (GRCm39)	R25H	probably damaging	Het
Kin	T	C	2: 10,085,517 (GRCm39)	W26R	probably damaging	Het
Kir3dl1	G	A	X: 135,425,911 (GRCm39)	C95Y	probably damaging	Het
Lamc2	A	G	1: 153,020,397 (GRCm39)	V383A	probably benign	Het
Mael	A	G	1: 166,032,418 (GRCm39)	Y314H	probably damaging	Het
Npat	T	C	9: 53,474,590 (GRCm39)	V794A	possibly damaging	Het
Nr4a2	T	A	2: 56,999,229 (GRCm39)	I340F	probably damaging	Het
Or4c103	A	G	2: 88,513,638 (GRCm39)	V146A	probably benign	Het
Or5p56	A	T	7: 107,590,097 (GRCm39)	D175V	probably damaging	Het
Or7g21	T	A	9: 19,032,528 (GRCm39)	D89E	possibly damaging	Het
Pdcd11	T	C	19: 47,096,003 (GRCm39)	V641A	probably benign	Het
Phf24	C	T	4: 42,938,667 (GRCm39)	T264I	probably benign	Het
Sars2	G	T	7: 28,452,848 (GRCm39)		probably benign	Het
Scn1a	A	C	2: 66,158,141 (GRCm39)	S411A	probably damaging	Het
Susd2	T	C	10: 75,476,765 (GRCm39)	N206S	probably benign	Het
Thrap3	C	T	4: 126,059,371 (GRCm39)	G892S	probably benign	Het
Ttc32	T	A	12: 9,084,953 (GRCm39)	Y58N	probably damaging	Het

Other mutations in Srsf5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0344:Srsf5	UTSW	12	80,994,298 (GRCm39)	missense	probably benign	0.00
R0827:Srsf5	UTSW	12	80,996,314 (GRCm39)	missense	probably damaging	1.00
R1552:Srsf5	UTSW	12	80,996,519 (GRCm39)	unclassified	probably benign
R2519:Srsf5	UTSW	12	80,995,870 (GRCm39)	missense	probably damaging	0.99
R4926:Srsf5	UTSW	12	80,994,075 (GRCm39)	utr 3 prime	probably benign
R5505:Srsf5	UTSW	12	80,995,857 (GRCm39)	unclassified	probably benign
R5786:Srsf5	UTSW	12	80,996,311 (GRCm39)	missense	possibly damaging	0.48
R7810:Srsf5	UTSW	12	80,996,720 (GRCm39)	missense	unknown
R8265:Srsf5	UTSW	12	80,994,110 (GRCm39)	missense	possibly damaging	0.95
R8711:Srsf5	UTSW	12	80,994,328 (GRCm39)	missense	possibly damaging	0.81
R8832:Srsf5	UTSW	12	80,996,278 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-04-17