Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00740:Sfswap'

14001

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sfswap

Ensembl Gene

ENSMUSG00000029439

Gene Name

splicing factor SWAP

Synonyms

Sfrs8, 1190005N23Rik, 6330437E22Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00740

Quality Score

Status

Chromosome

Chromosomal Location

129578286-129648448 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 129590297 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 265 (Y265N)

Ref Sequence

ENSEMBL: ENSMUSP00000062413 (fasta)

Gene Model

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

AlphaFold

Q3USH5

Predicted Effect

probably damaging
Transcript: ENSMUST00000053737
AA Change: Y265N

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

SMART Domains

Protein: ENSMUSP00000062413
Gene: ENSMUSG00000029439
AA Change: Y265N

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

noncoding transcript
Transcript: ENSMUST00000199925

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200662

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: 9 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Btn2a2	T	C	13: 23,662,655 (GRCm39)	I423V	probably benign	Het
Cngb3	A	T	4: 19,280,956 (GRCm39)	K8N	probably damaging	Het
Dmxl1	T	G	18: 50,050,735 (GRCm39)	D2454E	probably benign	Het
Hif3a	A	T	7: 16,785,841 (GRCm39)		probably null	Het
Muc5b	C	A	7: 141,409,335 (GRCm39)	Q1140K	unknown	Het
Spata31e5	A	G	1: 28,817,732 (GRCm39)	L100P	possibly damaging	Het
Susd2	A	T	10: 75,473,882 (GRCm39)	M571K	probably benign	Het
Tmco1	C	A	1: 167,143,837 (GRCm39)	N89K	probably damaging	Het
Ttc7b	G	A	12: 100,342,472 (GRCm39)	A518V	probably benign	Het

Other mutations in Sfswap

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02064:Sfswap	APN	5	129,637,860 (GRCm39)	missense	probably benign	0.17
IGL02083:Sfswap	APN	5	129,616,855 (GRCm39)	missense	probably benign
IGL02378:Sfswap	APN	5	129,616,668 (GRCm39)	missense	probably damaging	1.00
FR4340:Sfswap	UTSW	5	129,646,815 (GRCm39)	unclassified	probably benign
FR4342:Sfswap	UTSW	5	129,646,821 (GRCm39)	unclassified	probably benign
FR4449:Sfswap	UTSW	5	129,646,813 (GRCm39)	unclassified	probably benign
FR4449:Sfswap	UTSW	5	129,646,812 (GRCm39)	unclassified	probably benign
FR4548:Sfswap	UTSW	5	129,646,819 (GRCm39)	unclassified	probably benign
FR4548:Sfswap	UTSW	5	129,646,813 (GRCm39)	unclassified	probably benign
FR4737:Sfswap	UTSW	5	129,646,820 (GRCm39)	unclassified	probably benign
FR4976:Sfswap	UTSW	5	129,646,815 (GRCm39)	unclassified	probably benign
I1329:Sfswap	UTSW	5	129,584,201 (GRCm39)	unclassified	probably benign
P0033:Sfswap	UTSW	5	129,616,819 (GRCm39)	missense	possibly damaging	0.60
R0184:Sfswap	UTSW	5	129,584,253 (GRCm39)	missense	probably damaging	0.97
R0233:Sfswap	UTSW	5	129,631,607 (GRCm39)	missense	possibly damaging	0.82
R0233:Sfswap	UTSW	5	129,631,607 (GRCm39)	missense	possibly damaging	0.82
R0414:Sfswap	UTSW	5	129,581,115 (GRCm39)	missense	possibly damaging	0.83
R0415:Sfswap	UTSW	5	129,581,190 (GRCm39)	missense	probably damaging	1.00
R0570:Sfswap	UTSW	5	129,581,042 (GRCm39)	splice site	probably benign
R1018:Sfswap	UTSW	5	129,631,640 (GRCm39)	missense	possibly damaging	0.91
R1173:Sfswap	UTSW	5	129,584,207 (GRCm39)	critical splice acceptor site	probably null
R1298:Sfswap	UTSW	5	129,618,442 (GRCm39)	missense	probably benign	0.14
R1723:Sfswap	UTSW	5	129,616,758 (GRCm39)	missense	probably benign
R1783:Sfswap	UTSW	5	129,590,304 (GRCm39)	missense	possibly damaging	0.92
R1828:Sfswap	UTSW	5	129,590,148 (GRCm39)	missense	probably damaging	1.00
R1879:Sfswap	UTSW	5	129,618,392 (GRCm39)	missense	probably benign	0.01
R2078:Sfswap	UTSW	5	129,593,171 (GRCm39)	missense	possibly damaging	0.81
R2349:Sfswap	UTSW	5	129,646,802 (GRCm39)	missense	possibly damaging	0.87
R3757:Sfswap	UTSW	5	129,590,298 (GRCm39)	missense	probably damaging	1.00
R4093:Sfswap	UTSW	5	129,637,805 (GRCm39)	missense	possibly damaging	0.85
R4094:Sfswap	UTSW	5	129,637,805 (GRCm39)	missense	possibly damaging	0.85
R4095:Sfswap	UTSW	5	129,637,805 (GRCm39)	missense	possibly damaging	0.85
R4785:Sfswap	UTSW	5	129,590,147 (GRCm39)	missense	probably damaging	1.00
R5139:Sfswap	UTSW	5	129,648,073 (GRCm39)	missense	possibly damaging	0.73
R5355:Sfswap	UTSW	5	129,616,810 (GRCm39)	missense	probably benign	0.09
R5481:Sfswap	UTSW	5	129,591,882 (GRCm39)	missense	probably damaging	0.98
R5600:Sfswap	UTSW	5	129,590,222 (GRCm39)	missense	probably damaging	1.00
R5686:Sfswap	UTSW	5	129,591,882 (GRCm39)	missense	probably damaging	0.98
R5906:Sfswap	UTSW	5	129,619,107 (GRCm39)	missense	probably benign	0.22
R6332:Sfswap	UTSW	5	129,648,105 (GRCm39)	missense	possibly damaging	0.91
R6738:Sfswap	UTSW	5	129,618,505 (GRCm39)	missense	probably damaging	0.98
R6743:Sfswap	UTSW	5	129,627,883 (GRCm39)	nonsense	probably null
R7371:Sfswap	UTSW	5	129,620,305 (GRCm39)	missense	probably benign	0.01
R7747:Sfswap	UTSW	5	129,627,657 (GRCm39)	splice site	probably null
R8286:Sfswap	UTSW	5	129,616,783 (GRCm39)	missense	probably damaging	0.99
R8738:Sfswap	UTSW	5	129,620,345 (GRCm39)	missense	possibly damaging	0.52
R8943:Sfswap	UTSW	5	129,581,168 (GRCm39)	missense	probably damaging	1.00
R9119:Sfswap	UTSW	5	129,591,829 (GRCm39)	missense	probably benign
R9587:Sfswap	UTSW	5	129,618,427 (GRCm39)	missense	probably benign	0.00
R9601:Sfswap	UTSW	5	129,618,463 (GRCm39)	missense	possibly damaging	0.94
R9718:Sfswap	UTSW	5	129,616,848 (GRCm39)	missense	probably benign
RF003:Sfswap	UTSW	5	129,646,828 (GRCm39)	unclassified	probably benign
RF042:Sfswap	UTSW	5	129,646,807 (GRCm39)	unclassified	probably benign
RF049:Sfswap	UTSW	5	129,646,808 (GRCm39)	unclassified	probably benign

Posted On

2012-12-06