Mutagenetix > Incidental Mutations

Incidental Mutation 'R0415:Sfswap'

40226

Institutional Source

Beutler Lab

Gene Symbol

Sfswap

Ensembl Gene

ENSMUSG00000029439

Gene Name

splicing factor SWAP

Synonyms

Sfrs8, 6330437E22Rik, 1190005N23Rik

MMRRC Submission

038617-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0415 (G1)

Quality Score

149

Status

Validated

Chromosome

Chromosomal Location

129501221-129571384 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 129504126 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 121 (D121V)

Ref Sequence

ENSEMBL: ENSMUSP00000062413 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053737] [ENSMUST00000196698] [ENSMUST00000200500]

Predicted Effect

probably damaging
Transcript: ENSMUST00000053737
AA Change: D121V

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

SMART Domains

Protein: ENSMUSP00000062413
Gene: ENSMUSG00000029439
AA Change: D121V

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

noncoding transcript
Transcript: ENSMUST00000196147

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: ENSMUST00000198423

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198836

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199847

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199887

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199925

Predicted Effect

probably benign
Transcript: ENSMUST00000200500

SMART Domains

Protein: ENSMUSP00000143351
Gene: ENSMUSG00000029439

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200662

Meta Mutation Damage Score

0.6520

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.6%

Validation Efficiency

97% (99/102)

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: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427G23Rik	A	T	5: 23,831,050		noncoding transcript	Het
Acox2	A	G	14: 8,243,835		probably benign	Het
Adgb	T	C	10: 10,431,067		probably null	Het
Adgra3	C	A	5: 49,961,757		probably benign	Het
Adgre4	G	A	17: 55,852,288	V658I	probably benign	Het
Ahnak	A	G	19: 9,012,871		probably benign	Het
Anapc2	A	G	2: 25,278,325	T159A	probably damaging	Het
Arfgef3	A	G	10: 18,613,127		probably benign	Het
Atf7ip	C	T	6: 136,560,012	S81L	possibly damaging	Het
Cacna1i	A	G	15: 80,368,830		probably benign	Het
Camk1	A	T	6: 113,341,891	Y20*	probably null	Het
Ccdc40	T	C	11: 119,232,118	Y249H	possibly damaging	Het
Cd109	T	A	9: 78,712,615	S1380T	probably benign	Het
Cfap57	A	T	4: 118,569,431	L1107Q	possibly damaging	Het
Col6a4	C	T	9: 106,075,080	V540I	probably damaging	Het
Cst9	T	A	2: 148,838,442		probably benign	Het
Cul5	C	T	9: 53,667,070	V73I	probably benign	Het
Cxcl16	T	A	11: 70,458,748	K84*	probably null	Het
Cyp2c29	T	C	19: 39,329,095		probably benign	Het
D6Ertd527e	C	G	6: 87,111,524	T223S	unknown	Het
Dip2c	C	T	13: 9,568,289		probably benign	Het
Dis3	A	T	14: 99,087,456	I513N	probably damaging	Het
Dnajc16	A	T	4: 141,789,048	L3*	probably null	Het
Dopey1	T	A	9: 86,506,502	L480M	probably damaging	Het
Eml6	A	G	11: 29,749,392	V1787A	possibly damaging	Het
Etnk1	A	G	6: 143,180,774	N115S	probably damaging	Het
Fryl	T	C	5: 73,098,414	Y758C	probably damaging	Het
Gbp4	G	A	5: 105,121,106	R394C	possibly damaging	Het
Ggnbp2	A	C	11: 84,833,225		probably benign	Het
Gm7137	A	G	10: 77,788,173		probably benign	Het
Gstm2	T	A	3: 107,984,006	Q132L	probably benign	Het
Habp2	T	C	19: 56,317,717		probably benign	Het
Hectd2	T	C	19: 36,584,884		probably benign	Het
Htr6	A	G	4: 139,062,081	I291T	possibly damaging	Het
Ighg2c	T	C	12: 113,287,910	D199G	unknown	Het
Itih2	A	G	2: 10,105,615		probably benign	Het
Kcnab2	A	G	4: 152,395,136	F248S	probably benign	Het
Kcnc4	T	C	3: 107,445,433	K610E	probably damaging	Het
Kcnk16	T	A	14: 20,262,975		probably null	Het
Kndc1	C	T	7: 139,930,124	T1293I	probably damaging	Het
Lcp1	A	T	14: 75,227,006	I556F	possibly damaging	Het
Lrrc8d	T	C	5: 105,811,865	L47P	probably damaging	Het
Lyst	T	C	13: 13,711,610		probably benign	Het
Macrod2	G	A	2: 142,210,145		probably null	Het
Micalcl	C	T	7: 112,381,028	R70C	probably damaging	Het
Mllt3	ACTGCTGCTGCTGCTGCTGCT	ACTGCTGCTGCTGCTGCT	4: 87,841,339		probably benign	Het
Msh3	A	G	13: 92,346,786	V283A	possibly damaging	Het
Nup205	T	C	6: 35,214,634		probably benign	Het
Nxpe2	T	C	9: 48,326,614	T114A	probably damaging	Het
Olfr1023	A	T	2: 85,887,438	I213F	possibly damaging	Het
Olfr1034	A	T	2: 86,047,055	H191L	probably benign	Het
Olfr229	A	G	9: 39,909,983	Y60C	probably damaging	Het
Olfr78	C	T	7: 102,742,087	M305I	probably benign	Het
Olfr893	A	T	9: 38,209,973	M305L	probably benign	Het
Pard3	G	A	8: 127,610,566	G1221D	probably damaging	Het
Pax5	G	A	4: 44,691,886	A120V	probably damaging	Het
Pcsk6	C	T	7: 66,033,874	R746C	probably damaging	Het
Pif1	G	A	9: 65,588,051	C81Y	probably benign	Het
Plcb1	A	G	2: 135,337,499	Y609C	probably damaging	Het
Plcd4	C	A	1: 74,552,097	S217Y	probably damaging	Het
Plxna1	G	A	6: 89,357,336	H104Y	probably benign	Het
Polr2k	A	G	15: 36,175,456	Y45C	probably damaging	Het
Pqlc3	C	A	12: 16,997,710		probably benign	Het
Prex1	A	G	2: 166,586,699		probably benign	Het
Pth2r	A	G	1: 65,388,439	M424V	probably benign	Het
Pygm	A	G	19: 6,391,366	R464G	probably benign	Het
Rad51c	A	G	11: 87,397,655	L234P	probably damaging	Het
Rnf145	A	G	11: 44,525,138	Y60C	probably damaging	Het
Rnf167	T	C	11: 70,649,699	I135T	probably damaging	Het
Rnf213	A	T	11: 119,414,469	I509F	probably damaging	Het
Ryr2	T	C	13: 11,869,156	S213G	probably damaging	Het
Selenbp1	T	C	3: 94,936,913	V27A	possibly damaging	Het
Selenof	T	G	3: 144,577,692	L14R	probably damaging	Het
Slc25a34	C	A	4: 141,620,469	M300I	possibly damaging	Het
Slc34a3	T	G	2: 25,229,110	T583P	probably benign	Het
Smg1	C	A	7: 118,182,468	A1199S	probably benign	Het
Spint1	A	G	2: 119,245,615	T231A	probably damaging	Het
Sptbn1	A	C	11: 30,149,576	N229K	probably damaging	Het
Sult2b1	A	G	7: 45,730,092		probably benign	Het
Tas2r123	A	T	6: 132,847,838	M233L	probably damaging	Het
Tbcel	C	A	9: 42,444,500	C139F	probably benign	Het
Thbs2	A	C	17: 14,679,973	S573A	probably benign	Het
Tmem132c	A	G	5: 127,563,705	E980G	probably damaging	Het
Tmem247	G	T	17: 86,922,322	C197F	probably damaging	Het
Tmem251	T	A	12: 102,744,876	Y119*	probably null	Het
Tmem43	C	A	6: 91,482,318	P257Q	probably benign	Het
Tmprss13	A	G	9: 45,337,132		probably null	Het
Trove2	G	T	1: 143,760,075	N444K	probably benign	Het
Ubr5	T	C	15: 37,972,980	T2626A	probably damaging	Het
Vmn1r196	T	A	13: 22,293,836	V215D	probably damaging	Het
Vmn1r22	G	T	6: 57,900,332	T220K	probably benign	Het
Vmn2r116	G	A	17: 23,387,279	M388I	possibly damaging	Het
Vmn2r74	A	C	7: 85,961,410	C25G	probably damaging	Het
Xndc1	T	C	7: 102,080,616		probably benign	Het
Zfp282	T	A	6: 47,905,053	I558N	possibly damaging	Het
Zfp282	A	G	6: 47,897,881	D340G	probably damaging	Het
Zfp316	T	A	5: 143,264,491	T56S	unknown	Het
Zfp345	A	G	2: 150,474,559		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
IGL02083:Sfswap	APN	5	129539791	missense	probably benign
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
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
RF003:Sfswap	UTSW	5	129569764	unclassified	probably benign
RF042:Sfswap	UTSW	5	129569743	unclassified	probably benign
RF049:Sfswap	UTSW	5	129569744	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- ATGGGTGTAGACTTCCCTCCAGTG -3'
(R):5'- CTGCCCTCAAAAGCTGGGAAAATTC -3'

Sequencing Primer
(F):5'- AGTGACCAGCCTGTTCACATTAC -3'
(R):5'- TATCCTGAGGTCCTCTCAGAACG -3'

Posted On

2013-05-23