Mutagenetix > Incidental Mutation

Incidental Mutation 'RF049:Sfswap'

605102

Institutional Source

Beutler Lab

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 #

RF049 (G1)

Quality Score

214.458

Status

Not validated

Chromosome

Chromosomal Location

129578286-129648448 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

TCGGCCCACTCAGCCCACTCGGCC to TCGGCCCACTCGGCCCACTCAGCCCACTCGGCC at 129646808 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000142464 (fasta)

Gene Model

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

AlphaFold

Q3USH5

Predicted Effect

probably benign
Transcript: ENSMUST00000053737

SMART Domains

Protein: ENSMUSP00000062413
Gene: ENSMUSG00000029439

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

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.3%
20x: 98.6%

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: 28 list
Gene	Ref	Var	Chr/Loc	Predicted Effect	Zygosity
Actr3b	GTAGGA	G	5: 26,053,486 (GRCm39)	probably benign	Het
Ankhd1	CGGCGG	CGGCGGAGGCGG	18: 36,693,976 (GRCm39)	probably benign	Het
Begain	GCGCCCCCGCC	GCGCCCCCGCCCCCGCC	12: 108,999,340 (GRCm39)	probably benign	Het
Cdx1	GGGGCTG	GGGGCTGGGGCTG	18: 61,152,938 (GRCm39)	probably benign	Het
Chga	AGC	AGCCGC	12: 102,527,652 (GRCm39)	probably benign	Het
Cntnap1	CAGCC	CAGCCCTAGCC	11: 101,080,418 (GRCm39)	probably benign	Het
Cntnap1	C	CCCAGCA	11: 101,080,422 (GRCm39)	probably benign	Het
Flywch1	CCTGGTGT	CCTGGTGTGGGGAGGCTACGTACTCACCCACTTCTGGTGT	17: 23,981,145 (GRCm39)	probably null	Het
Gabre	CTCAGGCTGGGG	C	X: 71,313,883 (GRCm39)	probably null	Het
Hsdl2	AGCTGCAGGAGCAGCCACAGCTGCAGGAG	AGCTGCAGGAGCCGCCACAGCTGCAGGAGCAGCCACAGCTGCAGGAG	4: 59,610,633 (GRCm39)	probably benign	Het
Hsdl2	AG	AGATGCAGCAGCAGCCACGG	4: 59,610,651 (GRCm39)	probably benign	Het
Krtap28-10	CACAGC	CACAGCAACAGC	1: 83,019,859 (GRCm39)	probably benign	Het
Krtap28-10	CACAGC	CACAGCCACAGCCACAACAGC	1: 83,020,006 (GRCm39)	probably benign	Het
Lkaaear1	CTCCAGCTCCAGCTCCAGCTCCAG	CTCCAGCTCCAGTTCCAGCTCCAGCTCCAGCTCCAG	2: 181,339,367 (GRCm39)	probably benign	Het
Mamld1	GCA	GCATCA	X: 70,162,439 (GRCm39)	probably benign	Het
Mamld1	GCA	GCATCA	X: 70,162,451 (GRCm39)	probably benign	Het
Med12l	CAG	CAGAAG	3: 59,183,390 (GRCm39)	probably benign	Het
Nefh	ACTTGGCCTCAGCTGG	ACTTGGCCTCAGCTGGAGCCTTGGCCTCAGCTGG	11: 4,890,997 (GRCm39)	probably benign	Het
Nusap1	CACGTTAGCAGTGAGGAGCAAGCTGAGA	CACGTTAGCAGTCAGGAGCAAGCTGAGATAGACGTTAGCAGTGAGGAGCAAGCTGAGA	2: 119,458,064 (GRCm39)	probably benign	Het
Rassf6	ACTCATGGTCCTGTAGAGCAATGGGGATTC	ACTCATGGTCCTGTAGAGCAATGGGGATTCTGCCTCGCTCATGGTCCTGTAGAGCAATGGGGATTC	5: 90,756,772 (GRCm39)	probably benign	Het
Sirpa	TCATCAG	T	2: 129,451,123 (GRCm39)	probably null	Het
Tanc1	GTGAGCAGAAACCAGCATTTAGAGGGAACCGGTCCCTTCACTGCAGGAA	G	2: 59,673,613 (GRCm39)	probably benign	Het
Trappc9	TGCTGCTGCTGCTGCTGCTGCTGCTGCTGC	TGCTGCTGCTGCTGCGGCTGCTGCTGCTGCTGCTGCTGCTGCTGC	15: 72,673,150 (GRCm39)	probably benign	Het
Trappc9	CTGCTGCTGCTGCTG	CTGCTGCTGCTGCTGATGCTGCTGCTGCTG	15: 72,673,155 (GRCm39)	probably benign	Het
Triobp	GACAA	GACAACCCCAGGACTCCCTGTACCCAACGGAACAA	15: 78,851,261 (GRCm39)	probably benign	Het
Tspan33	G	GCTGT	6: 29,709,997 (GRCm39)	probably benign	Het
Vmn1r74	CAGAGCCACCAAGTACCT	C	7: 11,581,067 (GRCm39)	probably null	Het
Zkscan4	AAAAA	AAAAAA	13: 21,668,881 (GRCm39)	probably null	Het

Other mutations in Sfswap

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00740:Sfswap	APN	5	129,590,297 (GRCm39)	missense	probably damaging	1.00
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

Predicted Primers

PCR Primer
(F):5'- CACCAATTGAGACTGCCCTC -3'
(R):5'- TTTGTCACTGAGTCCTGCATG -3'

Sequencing Primer
(F):5'- AATTGAGACTGCCCTCTTGTCGAG -3'
(R):5'- CCCAGTAAGGCATGGGTTG -3'

Posted On

2019-12-04