Mutagenetix > Incidental Mutation

Incidental Mutation 'R4785:Sfswap'

366945

Institutional Source

Beutler Lab

Gene Symbol

Sfswap

Ensembl Gene

ENSMUSG00000029439

Gene Name

splicing factor SWAP

Synonyms

Sfrs8, 6330437E22Rik, 1190005N23Rik

MMRRC Submission

042417-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4785 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

129501221-129571384 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 129513083 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 215 (T215A)

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: T215A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000062413
Gene: ENSMUSG00000029439
AA Change: T215A

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

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.4%

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: 145 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921517D22Rik	T	C	13: 59,691,592 (GRCm38)	D13G	probably benign	Het
4930442H23Rik	C	T	10: 81,183,144 (GRCm38)		probably benign	Het
5330417C22Rik	A	T	3: 108,458,227 (GRCm38)		probably benign	Het
Adamts13	T	A	2: 26,983,042 (GRCm38)	S341T	probably damaging	Het
Adamts2	A	G	11: 50,792,722 (GRCm38)	I944V	probably benign	Het
Adcy3	A	G	12: 4,206,542 (GRCm38)	T783A	probably benign	Het
Ago3	A	T	4: 126,368,503 (GRCm38)	M418K	probably benign	Het
Alpk1	G	T	3: 127,687,592 (GRCm38)	N175K	possibly damaging	Het
Als2	A	G	1: 59,215,313 (GRCm38)	V295A	probably benign	Het
Anapc13	T	C	9: 102,629,821 (GRCm38)	I11T	probably benign	Het
Ankrd12	T	A	17: 65,982,999 (GRCm38)	N1813I	probably damaging	Het
Anks1b	A	T	10: 90,914,750 (GRCm38)	I176F	probably null	Het
Ap3d1	TTCTCTCTCTCTCTCTCT	TTCTCTCTCTCTCTCT	10: 80,712,778 (GRCm38)		probably null	Het
Arhgap32	A	G	9: 32,129,653 (GRCm38)	D67G	probably damaging	Het
Arhgap32	T	C	9: 32,260,780 (GRCm38)	C1619R	probably damaging	Het
Atp1a4	A	T	1: 172,254,110 (GRCm38)	Y158*	probably null	Het
Atp8b5	A	T	4: 43,356,980 (GRCm38)	D576V	probably damaging	Het
Atrnl1	A	G	19: 57,629,158 (GRCm38)	I122V	probably damaging	Het
B430203G13Rik	A	T	12: 17,924,519 (GRCm38)		noncoding transcript	Het
Baz1b	T	G	5: 135,217,413 (GRCm38)	L572R	possibly damaging	Het
Ccnd2	T	C	6: 127,148,798 (GRCm38)	T92A	possibly damaging	Het
Ccndbp1	A	T	2: 121,008,522 (GRCm38)	T5S	probably benign	Het
Ccr2	G	A	9: 124,106,372 (GRCm38)	V230I	probably benign	Het
Cct4	T	A	11: 23,002,866 (GRCm38)	V514E	probably damaging	Het
Cep152	A	G	2: 125,586,329 (GRCm38)		probably null	Het
Cflar	C	T	1: 58,752,567 (GRCm38)	T343M	probably benign	Het
Chrm5	A	C	2: 112,479,585 (GRCm38)	N395K	probably benign	Het
Chrna10	G	A	7: 102,113,219 (GRCm38)	P255S	possibly damaging	Het
Chrna6	T	A	8: 27,407,106 (GRCm38)	I248F	probably damaging	Het
Clip1	T	C	5: 123,579,293 (GRCm38)	D1387G	probably damaging	Het
Clstn3	T	C	6: 124,437,372 (GRCm38)		probably null	Het
Cntnap5a	C	T	1: 116,101,565 (GRCm38)	R250W	probably benign	Het
Col12a1	C	A	9: 79,678,494 (GRCm38)	V1228F	possibly damaging	Het
Cxcr5	T	C	9: 44,513,341 (GRCm38)	T340A	probably benign	Het
Cyp2a4	G	A	7: 26,312,875 (GRCm38)	R361K	probably damaging	Het
Dnah1	T	A	14: 31,263,479 (GRCm38)	K3818N	probably damaging	Het
Dnah3	T	A	7: 119,967,824 (GRCm38)	K2393M	probably benign	Het
Dpy19l1	A	T	9: 24,424,823 (GRCm38)	L529Q	probably damaging	Het
Eif4g2	C	T	7: 111,076,796 (GRCm38)	R399H	probably damaging	Het
Fam160a1	G	T	3: 85,688,570 (GRCm38)	T115K	probably damaging	Het
Fam76a	A	T	4: 132,902,117 (GRCm38)		probably null	Het
Fam76a	A	G	4: 132,916,190 (GRCm38)	Y78H	probably damaging	Het
Fbn1	A	T	2: 125,324,919 (GRCm38)	C2026S	probably damaging	Het
Fbxo4	T	C	15: 3,969,041 (GRCm38)	T312A	probably benign	Het
Fbxw26	A	G	9: 109,724,800 (GRCm38)	V257A	possibly damaging	Het
Flnb	A	T	14: 7,905,701 (GRCm38)	E1150D	probably benign	Het
Fndc3c1	A	T	X: 106,437,702 (GRCm38)	S661R	possibly damaging	Het
Gba2	A	C	4: 43,568,315 (GRCm38)	L684R	probably damaging	Het
Gbf1	G	T	19: 46,268,395 (GRCm38)	C812F	possibly damaging	Het
Glt8d2	A	T	10: 82,660,749 (GRCm38)	D158E	probably damaging	Het
Golga2	T	A	2: 32,297,156 (GRCm38)	N89K	probably damaging	Het
Got1	A	G	19: 43,502,937 (GRCm38)	I358T	possibly damaging	Het
Gpx6	C	T	13: 21,312,264 (GRCm38)	Q3*	probably null	Het
Grin1	T	A	2: 25,292,381 (GRCm38)	H956L	possibly damaging	Het
Grin2d	A	G	7: 45,856,781 (GRCm38)	V562A	probably damaging	Het
Grm6	A	G	11: 50,857,277 (GRCm38)	I405V	probably benign	Het
Hcar2	C	G	5: 123,864,450 (GRCm38)	G330A	probably benign	Het
Hcfc1	T	C	X: 73,965,946 (GRCm38)	K20E	probably damaging	Het
Iars	T	A	13: 49,724,663 (GRCm38)	Y888N	probably damaging	Het
Ifi206	A	T	1: 173,480,866 (GRCm38)	H521Q	probably benign	Het
Impg1	A	G	9: 80,398,450 (GRCm38)	S112P	probably benign	Het
Incenp	T	A	19: 9,877,691 (GRCm38)	R619W	unknown	Het
Incenp	C	A	19: 9,877,690 (GRCm38)	R619M	unknown	Het
Kat2b	A	G	17: 53,653,203 (GRCm38)	E513G	possibly damaging	Het
Kbtbd12	G	T	6: 88,618,021 (GRCm38)	L276I	probably damaging	Het
Kctd9	T	A	14: 67,734,164 (GRCm38)	D229E	probably damaging	Het
Kdm1b	C	T	13: 47,063,077 (GRCm38)	R308W	probably damaging	Het
Kif2b	G	A	11: 91,576,428 (GRCm38)	P343L	probably benign	Het
Kntc1	T	G	5: 123,816,762 (GRCm38)	M2081R	possibly damaging	Het
Lamc1	T	C	1: 153,231,740 (GRCm38)	N1231S	probably damaging	Het
Lclat1	T	A	17: 73,240,070 (GRCm38)	Y327*	probably null	Het
Lgals3bp	G	A	11: 118,393,514 (GRCm38)	T413I	probably damaging	Het
Lin54	A	G	5: 100,459,738 (GRCm38)	I250T	probably damaging	Het
Lrp1	T	C	10: 127,558,133 (GRCm38)	N2621S	probably benign	Het
Lrrtm3	T	A	10: 64,088,002 (GRCm38)	H462L	probably benign	Het
Lysmd1	A	G	3: 95,134,986 (GRCm38)	Y57C	probably damaging	Het
Mccc1	C	A	3: 35,975,873 (GRCm38)	M429I	probably damaging	Het
Metrnl	A	G	11: 121,707,924 (GRCm38)	E40G	probably benign	Het
Mios	T	A	6: 8,222,464 (GRCm38)	M466K	probably benign	Het
Mrgpra1	A	G	7: 47,335,470 (GRCm38)	S154P	probably damaging	Het
Mrpl24	T	C	3: 87,922,050 (GRCm38)		probably null	Het
Myo1f	A	G	17: 33,598,191 (GRCm38)	N736S	possibly damaging	Het
Myo1h	A	G	5: 114,360,599 (GRCm38)	I919V	possibly damaging	Het
Nampt	T	C	12: 32,848,714 (GRCm38)	L443P	possibly damaging	Het
Ndufaf2	C	G	13: 108,052,780 (GRCm38)	A145P	probably damaging	Het
Nek10	A	T	14: 14,855,714 (GRCm38)	T403S	probably benign	Het
Nme8	C	A	13: 19,657,930 (GRCm38)	V219L	probably damaging	Het
Nov	A	T	15: 54,752,207 (GRCm38)		probably null	Het
Nps	T	A	7: 135,268,788 (GRCm38)	L13Q	probably damaging	Het
Nutm1	G	A	2: 112,248,936 (GRCm38)	A878V	probably benign	Het
Ogdh	T	C	11: 6,349,875 (GRCm38)	F794L	probably damaging	Het
Olfr1305	A	T	2: 111,873,050 (GRCm38)	D268E	possibly damaging	Het
Olfr1441	A	T	19: 12,422,977 (GRCm38)	I223F	probably damaging	Het
Olfr292	T	C	7: 86,694,528 (GRCm38)	L24P	probably damaging	Het
Olfr305	C	A	7: 86,363,735 (GRCm38)	G201C	probably damaging	Het
Olfr721-ps1	A	C	14: 14,407,729 (GRCm38)	Y167S	possibly damaging	Het
Olfr998	A	G	2: 85,590,938 (GRCm38)	T133A	probably benign	Het
Pik3cg	T	C	12: 32,205,199 (GRCm38)	E263G	probably damaging	Het
Pikfyve	A	G	1: 65,267,846 (GRCm38)	T1798A	probably benign	Het
Poldip3	T	C	15: 83,131,501 (GRCm38)	Y305C	probably damaging	Het
Pqlc2	G	T	4: 139,300,001 (GRCm38)	H343Q	probably benign	Het
Prkdc	T	C	16: 15,648,976 (GRCm38)	I107T	probably benign	Het
Prmt2	A	G	10: 76,226,221 (GRCm38)	I50T	probably damaging	Het
Ptprd	T	C	4: 76,140,553 (GRCm38)	T168A	probably benign	Het
Pudp	A	G	18: 50,568,065 (GRCm38)	V199A	probably damaging	Het
Rab3c	T	C	13: 110,061,900 (GRCm38)	E198G	probably benign	Het
Rasl12	A	G	9: 65,413,448 (GRCm38)	Y156C	probably damaging	Het
Rbm12	T	C	2: 156,096,564 (GRCm38)	D596G	possibly damaging	Het
Rbm6	T	C	9: 107,787,352 (GRCm38)	E694G	probably benign	Het
Rif1	T	C	2: 52,112,747 (GRCm38)	V2071A	probably damaging	Het
Ripply2	A	T	9: 87,019,796 (GRCm38)	N125I	probably damaging	Het
Rps6kc1	A	T	1: 190,750,188 (GRCm38)	H284Q	probably benign	Het
Scara3	A	T	14: 65,953,501 (GRCm38)	M1K	probably null	Het
Shroom2	A	C	X: 152,660,907 (GRCm38)	F421V	probably benign	Het
Sipa1l3	A	G	7: 29,377,641 (GRCm38)	V902A	probably damaging	Het
Slamf8	G	T	1: 172,584,214 (GRCm38)	P238Q	probably damaging	Het
Slc44a3	T	C	3: 121,527,074 (GRCm38)	T93A	possibly damaging	Het
Slc5a7	A	T	17: 54,278,700 (GRCm38)	I363N	probably damaging	Het
Slc7a2	T	A	8: 40,911,058 (GRCm38)	M436K	probably benign	Het
Spindoc	A	G	19: 7,374,091 (GRCm38)	S223P	probably benign	Het
Stk11ip	T	C	1: 75,530,281 (GRCm38)	F669L	possibly damaging	Het
Sun3	G	A	11: 9,038,266 (GRCm38)	L19F	probably benign	Het
Sycp1	C	A	3: 102,853,489 (GRCm38)	A703S	possibly damaging	Het
Tas2r139	T	G	6: 42,141,284 (GRCm38)	F117V	probably damaging	Het
Tdrd6	T	C	17: 43,625,576 (GRCm38)	Y1527C	probably damaging	Het
Tenm4	A	C	7: 96,774,046 (GRCm38)	K683Q	probably damaging	Het
Tfeb	T	A	17: 47,788,227 (GRCm38)		probably null	Het
Tmco4	T	C	4: 138,998,039 (GRCm38)	S121P	probably damaging	Het
Tmprss11d	C	T	5: 86,306,281 (GRCm38)	V222M	probably damaging	Het
Tnks1bp1	T	C	2: 85,063,034 (GRCm38)	W440R	probably damaging	Het
Trp53bp2	A	G	1: 182,448,997 (GRCm38)	T848A	probably benign	Het
Tssk1	G	A	16: 17,895,062 (GRCm38)	R237H	probably benign	Het
Ttll4	A	T	1: 74,679,007 (GRCm38)	T6S	possibly damaging	Het
Ttn	A	G	2: 76,769,603 (GRCm38)	Y19076H	probably damaging	Het
Ttn	G	T	2: 76,721,797 (GRCm38)	Y29419*	probably null	Het
Ubr3	T	A	2: 69,959,603 (GRCm38)	V867D	probably damaging	Het
Usp29	A	G	7: 6,961,391 (GRCm38)	T78A	probably damaging	Het
Utrn	T	G	10: 12,654,745 (GRCm38)	Q2108P	probably benign	Het
Vcan	T	C	13: 89,705,789 (GRCm38)	N351D	probably damaging	Het
Vmn1r61	A	T	7: 5,611,127 (GRCm38)	Y63N	probably benign	Het
Vmn1r61	A	T	7: 5,611,125 (GRCm38)	Y63*	probably null	Het
Vmn1r85	A	T	7: 13,084,861 (GRCm38)	W119R	probably damaging	Het
Zbtb21	A	C	16: 97,950,455 (GRCm38)	V190G	possibly damaging	Het
Zfp157	C	A	5: 138,444,789 (GRCm38)	T14N	probably damaging	Het
Zfp942	A	T	17: 21,929,419 (GRCm38)	H76Q	probably damaging	Het

Other mutations in Sfswap

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00740:Sfswap	APN	5	129,513,233 (GRCm38)	missense	probably damaging	1.00
IGL02064:Sfswap	APN	5	129,560,796 (GRCm38)	missense	probably benign	0.17
IGL02083:Sfswap	APN	5	129,539,791 (GRCm38)	missense	probably benign
IGL02378:Sfswap	APN	5	129,539,604 (GRCm38)	missense	probably damaging	1.00
FR4340:Sfswap	UTSW	5	129,569,751 (GRCm38)	unclassified	probably benign
FR4342:Sfswap	UTSW	5	129,569,757 (GRCm38)	unclassified	probably benign
FR4449:Sfswap	UTSW	5	129,569,749 (GRCm38)	unclassified	probably benign
FR4449:Sfswap	UTSW	5	129,569,748 (GRCm38)	unclassified	probably benign
FR4548:Sfswap	UTSW	5	129,569,755 (GRCm38)	unclassified	probably benign
FR4548:Sfswap	UTSW	5	129,569,749 (GRCm38)	unclassified	probably benign
FR4737:Sfswap	UTSW	5	129,569,756 (GRCm38)	unclassified	probably benign
FR4976:Sfswap	UTSW	5	129,569,751 (GRCm38)	unclassified	probably benign
I1329:Sfswap	UTSW	5	129,507,137 (GRCm38)	unclassified	probably benign
P0033:Sfswap	UTSW	5	129,539,755 (GRCm38)	missense	possibly damaging	0.60
R0184:Sfswap	UTSW	5	129,507,189 (GRCm38)	missense	probably damaging	0.97
R0233:Sfswap	UTSW	5	129,554,543 (GRCm38)	missense	possibly damaging	0.82
R0233:Sfswap	UTSW	5	129,554,543 (GRCm38)	missense	possibly damaging	0.82
R0414:Sfswap	UTSW	5	129,504,051 (GRCm38)	missense	possibly damaging	0.83
R0415:Sfswap	UTSW	5	129,504,126 (GRCm38)	missense	probably damaging	1.00
R0570:Sfswap	UTSW	5	129,503,978 (GRCm38)	splice site	probably benign
R1018:Sfswap	UTSW	5	129,554,576 (GRCm38)	missense	possibly damaging	0.91
R1173:Sfswap	UTSW	5	129,507,143 (GRCm38)	critical splice acceptor site	probably null
R1298:Sfswap	UTSW	5	129,541,378 (GRCm38)	missense	probably benign	0.14
R1723:Sfswap	UTSW	5	129,539,694 (GRCm38)	missense	probably benign
R1783:Sfswap	UTSW	5	129,513,240 (GRCm38)	missense	possibly damaging	0.92
R1828:Sfswap	UTSW	5	129,513,084 (GRCm38)	missense	probably damaging	1.00
R1879:Sfswap	UTSW	5	129,541,328 (GRCm38)	missense	probably benign	0.01
R2078:Sfswap	UTSW	5	129,516,107 (GRCm38)	missense	possibly damaging	0.81
R2349:Sfswap	UTSW	5	129,569,738 (GRCm38)	missense	possibly damaging	0.87
R3757:Sfswap	UTSW	5	129,513,234 (GRCm38)	missense	probably damaging	1.00
R4093:Sfswap	UTSW	5	129,560,741 (GRCm38)	missense	possibly damaging	0.85
R4094:Sfswap	UTSW	5	129,560,741 (GRCm38)	missense	possibly damaging	0.85
R4095:Sfswap	UTSW	5	129,560,741 (GRCm38)	missense	possibly damaging	0.85
R5139:Sfswap	UTSW	5	129,571,009 (GRCm38)	missense	possibly damaging	0.73
R5355:Sfswap	UTSW	5	129,539,746 (GRCm38)	missense	probably benign	0.09
R5481:Sfswap	UTSW	5	129,514,818 (GRCm38)	missense	probably damaging	0.98
R5600:Sfswap	UTSW	5	129,513,158 (GRCm38)	missense	probably damaging	1.00
R5686:Sfswap	UTSW	5	129,514,818 (GRCm38)	missense	probably damaging	0.98
R5906:Sfswap	UTSW	5	129,542,043 (GRCm38)	missense	probably benign	0.22
R6332:Sfswap	UTSW	5	129,571,041 (GRCm38)	missense	possibly damaging	0.91
R6738:Sfswap	UTSW	5	129,541,441 (GRCm38)	missense	probably damaging	0.98
R6743:Sfswap	UTSW	5	129,550,819 (GRCm38)	nonsense	probably null
R7371:Sfswap	UTSW	5	129,543,241 (GRCm38)	missense	probably benign	0.01
R7747:Sfswap	UTSW	5	129,550,593 (GRCm38)	splice site	probably null
R8286:Sfswap	UTSW	5	129,539,719 (GRCm38)	missense	probably damaging	0.99
R8738:Sfswap	UTSW	5	129,543,281 (GRCm38)	missense	possibly damaging	0.52
R8943:Sfswap	UTSW	5	129,504,104 (GRCm38)	missense	probably damaging	1.00
R9119:Sfswap	UTSW	5	129,514,765 (GRCm38)	missense	probably benign
R9587:Sfswap	UTSW	5	129,541,363 (GRCm38)	missense	probably benign	0.00
R9601:Sfswap	UTSW	5	129,541,399 (GRCm38)	missense	possibly damaging	0.94
R9718:Sfswap	UTSW	5	129,539,784 (GRCm38)	missense	probably benign
RF003:Sfswap	UTSW	5	129,569,764 (GRCm38)	unclassified	probably benign
RF042:Sfswap	UTSW	5	129,569,743 (GRCm38)	unclassified	probably benign
RF049:Sfswap	UTSW	5	129,569,744 (GRCm38)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- TGAGGTCCTGAAGTTACATAAGC -3'
(R):5'- ACACAGGCCCACGTACTTTTC -3'

Sequencing Primer
(F):5'- TGTGCCTCAATACACAAGTGG -3'
(R):5'- ACAGGCCCACGTACTTTTCTTCTC -3'

Posted On

2015-12-29