Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02083:Sfswap'

283421

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sfswap

Ensembl Gene

ENSMUSG00000029439

Gene Name

splicing factor SWAP

Synonyms

Sfrs8, 6330437E22Rik, 1190005N23Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02083

Quality Score

Status

Chromosome

Chromosomal Location

129501221-129571384 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 129539791 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 433 (V433A)

Ref Sequence

ENSEMBL: ENSMUSP00000062413 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053737] [ENSMUST00000196698]

AlphaFold

Q3USH5

Predicted Effect

probably benign
Transcript: ENSMUST00000053737
AA Change: V433A

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

SMART Domains

Protein: ENSMUSP00000062413
Gene: ENSMUSG00000029439
AA Change: V433A

Domain	Start	End	E-Value	Type
low complexity region	22	30	N/A	INTRINSIC
DRY_EERY	33	157	1.15e-57	SMART
low complexity region	160	170	N/A	INTRINSIC
low complexity region	174	186	N/A	INTRINSIC
SWAP	209	262	3.94e-19	SMART
low complexity region	286	293	N/A	INTRINSIC
low complexity region	333	352	N/A	INTRINSIC
low complexity region	397	441	N/A	INTRINSIC
SWAP	456	507	9.55e-18	SMART
low complexity region	513	532	N/A	INTRINSIC
low complexity region	548	562	N/A	INTRINSIC
low complexity region	598	607	N/A	INTRINSIC
coiled coil region	631	686	N/A	INTRINSIC
low complexity region	741	788	N/A	INTRINSIC
low complexity region	797	821	N/A	INTRINSIC
low complexity region	840	865	N/A	INTRINSIC
low complexity region	871	888	N/A	INTRINSIC
low complexity region	889	905	N/A	INTRINSIC
low complexity region	909	920	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000196698

SMART Domains

Protein: ENSMUSP00000142464
Gene: ENSMUSG00000029439

Domain	Start	End	E-Value	Type
low complexity region	22	30	N/A	INTRINSIC
DRY_EERY	33	121	1.8e-30	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000199215

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199925

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a human homolog of Drosophila splicing regulatory protein. This gene autoregulates its expression by control of splicing of its first two introns. In addition, it also regulates the splicing of fibronectin and CD45 genes. Two transcript variants encoding different isoforms have been identified. [provided by RefSeq, May 2012]
PHENOTYPE: Mice homozygous for a transgenic gene disruption exhibit a wobbly phenotype with inner ear defects. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap1	A	C	11: 69,889,510	L36V	possibly damaging	Het
Atp13a3	T	C	16: 30,347,706	T540A	possibly damaging	Het
Bend5	A	C	4: 111,459,767	I376L	probably benign	Het
Ccdc138	T	C	10: 58,544,914		probably benign	Het
Cdh10	T	A	15: 18,986,889	I402N	possibly damaging	Het
Cfap44	T	C	16: 44,437,162	V1020A	probably damaging	Het
Chd2	A	T	7: 73,481,068	S749T	possibly damaging	Het
Doxl2	G	A	6: 48,976,260	G373D	probably damaging	Het
Enpp3	T	A	10: 24,776,794	D755V	probably damaging	Het
Fmo6	T	A	1: 162,920,464	K344*	probably null	Het
Gabbr1	A	G	17: 37,070,065	T767A	possibly damaging	Het
Gjd3	A	G	11: 98,982,761	S86P	probably damaging	Het
Grin1	A	G	2: 25,298,501	V432A	possibly damaging	Het
Igf2r	A	T	17: 12,693,192	C1849*	probably null	Het
Jcad	G	T	18: 4,680,266		probably benign	Het
Mrgpra4	A	T	7: 47,981,060	C264*	probably null	Het
Napepld	T	C	5: 21,676,067	Y110C	probably damaging	Het
Nat6	G	T	9: 107,583,599	R231L	probably benign	Het
Ncapd3	A	G	9: 27,051,821	E474G	probably damaging	Het
Pkhd1	T	A	1: 20,201,227	D3034V	probably damaging	Het
Plxnc1	T	C	10: 94,922,725	T370A	possibly damaging	Het
Ptger4	C	T	15: 5,243,174	R13H	probably benign	Het
Scg2	T	A	1: 79,436,224	T261S	probably benign	Het
Sipa1l3	A	G	7: 29,387,261	Y635H	probably damaging	Het
Sp5	C	A	2: 70,476,414	P148T	possibly damaging	Het
Tlr5	A	G	1: 182,973,884	N251S	possibly damaging	Het
Tmem87a	A	T	2: 120,397,380	N95K	probably damaging	Het
Unc45b	C	T	11: 82,922,919	T384M	probably damaging	Het
Unc5c	T	C	3: 141,714,647	L117P	probably damaging	Het
Vcan	T	C	13: 89,725,565	N57D	probably damaging	Het
Zcchc8	G	T	5: 123,700,918	T519K	probably damaging	Het
Zfp729b	G	A	13: 67,595,230	T72I	probably benign	Het

Other mutations in Sfswap

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00740:Sfswap	APN	5	129513233	missense	probably damaging	1.00
IGL02064:Sfswap	APN	5	129560796	missense	probably benign	0.17
IGL02378:Sfswap	APN	5	129539604	missense	probably damaging	1.00
FR4340:Sfswap	UTSW	5	129569751	unclassified	probably benign
FR4342:Sfswap	UTSW	5	129569757	unclassified	probably benign
FR4449:Sfswap	UTSW	5	129569748	unclassified	probably benign
FR4449:Sfswap	UTSW	5	129569749	unclassified	probably benign
FR4548:Sfswap	UTSW	5	129569749	unclassified	probably benign
FR4548:Sfswap	UTSW	5	129569755	unclassified	probably benign
FR4737:Sfswap	UTSW	5	129569756	unclassified	probably benign
FR4976:Sfswap	UTSW	5	129569751	unclassified	probably benign
I1329:Sfswap	UTSW	5	129507137	unclassified	probably benign
P0033:Sfswap	UTSW	5	129539755	missense	possibly damaging	0.60
R0184:Sfswap	UTSW	5	129507189	missense	probably damaging	0.97
R0233:Sfswap	UTSW	5	129554543	missense	possibly damaging	0.82
R0233:Sfswap	UTSW	5	129554543	missense	possibly damaging	0.82
R0414:Sfswap	UTSW	5	129504051	missense	possibly damaging	0.83
R0415:Sfswap	UTSW	5	129504126	missense	probably damaging	1.00
R0570:Sfswap	UTSW	5	129503978	splice site	probably benign
R1018:Sfswap	UTSW	5	129554576	missense	possibly damaging	0.91
R1173:Sfswap	UTSW	5	129507143	critical splice acceptor site	probably null
R1298:Sfswap	UTSW	5	129541378	missense	probably benign	0.14
R1723:Sfswap	UTSW	5	129539694	missense	probably benign
R1783:Sfswap	UTSW	5	129513240	missense	possibly damaging	0.92
R1828:Sfswap	UTSW	5	129513084	missense	probably damaging	1.00
R1879:Sfswap	UTSW	5	129541328	missense	probably benign	0.01
R2078:Sfswap	UTSW	5	129516107	missense	possibly damaging	0.81
R2349:Sfswap	UTSW	5	129569738	missense	possibly damaging	0.87
R3757:Sfswap	UTSW	5	129513234	missense	probably damaging	1.00
R4093:Sfswap	UTSW	5	129560741	missense	possibly damaging	0.85
R4094:Sfswap	UTSW	5	129560741	missense	possibly damaging	0.85
R4095:Sfswap	UTSW	5	129560741	missense	possibly damaging	0.85
R4785:Sfswap	UTSW	5	129513083	missense	probably damaging	1.00
R5139:Sfswap	UTSW	5	129571009	missense	possibly damaging	0.73
R5355:Sfswap	UTSW	5	129539746	missense	probably benign	0.09
R5481:Sfswap	UTSW	5	129514818	missense	probably damaging	0.98
R5600:Sfswap	UTSW	5	129513158	missense	probably damaging	1.00
R5686:Sfswap	UTSW	5	129514818	missense	probably damaging	0.98
R5906:Sfswap	UTSW	5	129542043	missense	probably benign	0.22
R6332:Sfswap	UTSW	5	129571041	missense	possibly damaging	0.91
R6738:Sfswap	UTSW	5	129541441	missense	probably damaging	0.98
R6743:Sfswap	UTSW	5	129550819	nonsense	probably null
R7371:Sfswap	UTSW	5	129543241	missense	probably benign	0.01
R7747:Sfswap	UTSW	5	129550593	splice site	probably null
R8286:Sfswap	UTSW	5	129539719	missense	probably damaging	0.99
R8738:Sfswap	UTSW	5	129543281	missense	possibly damaging	0.52
R8943:Sfswap	UTSW	5	129504104	missense	probably damaging	1.00
R9119:Sfswap	UTSW	5	129514765	missense	probably benign
R9587:Sfswap	UTSW	5	129541363	missense	probably benign	0.00
R9601:Sfswap	UTSW	5	129541399	missense	possibly damaging	0.94
R9718:Sfswap	UTSW	5	129539784	missense	probably benign
RF003:Sfswap	UTSW	5	129569764	unclassified	probably benign
RF042:Sfswap	UTSW	5	129569743	unclassified	probably benign
RF049:Sfswap	UTSW	5	129569744	unclassified	probably benign

Posted On

2015-04-16