Mutagenetix > Incidental Mutation

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

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 (GRCm38)

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]

AlphaFold

Q3USH5

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 (GRCm38)		noncoding transcript	Het
Acox2	A	G	14: 8,243,835 (GRCm38)		probably benign	Het
Adgb	T	C	10: 10,431,067 (GRCm38)		probably null	Het
Adgra3	C	A	5: 49,961,757 (GRCm38)		probably benign	Het
Adgre4	G	A	17: 55,852,288 (GRCm38)	V658I	probably benign	Het
Ahnak	A	G	19: 9,012,871 (GRCm38)		probably benign	Het
Anapc2	A	G	2: 25,278,325 (GRCm38)	T159A	probably damaging	Het
Arfgef3	A	G	10: 18,613,127 (GRCm38)		probably benign	Het
Atf7ip	C	T	6: 136,560,012 (GRCm38)	S81L	possibly damaging	Het
Cacna1i	A	G	15: 80,368,830 (GRCm38)		probably benign	Het
Camk1	A	T	6: 113,341,891 (GRCm38)	Y20*	probably null	Het
Ccdc40	T	C	11: 119,232,118 (GRCm38)	Y249H	possibly damaging	Het
Cd109	T	A	9: 78,712,615 (GRCm38)	S1380T	probably benign	Het
Cfap57	A	T	4: 118,569,431 (GRCm38)	L1107Q	possibly damaging	Het
Col6a4	C	T	9: 106,075,080 (GRCm38)	V540I	probably damaging	Het
Cst9	T	A	2: 148,838,442 (GRCm38)		probably benign	Het
Cul5	C	T	9: 53,667,070 (GRCm38)	V73I	probably benign	Het
Cxcl16	T	A	11: 70,458,748 (GRCm38)	K84*	probably null	Het
Cyp2c29	T	C	19: 39,329,095 (GRCm38)		probably benign	Het
D6Ertd527e	C	G	6: 87,111,524 (GRCm38)	T223S	unknown	Het
Dip2c	C	T	13: 9,568,289 (GRCm38)		probably benign	Het
Dis3	A	T	14: 99,087,456 (GRCm38)	I513N	probably damaging	Het
Dnajc16	A	T	4: 141,789,048 (GRCm38)	L3*	probably null	Het
Dopey1	T	A	9: 86,506,502 (GRCm38)	L480M	probably damaging	Het
Eml6	A	G	11: 29,749,392 (GRCm38)	V1787A	possibly damaging	Het
Etnk1	A	G	6: 143,180,774 (GRCm38)	N115S	probably damaging	Het
Fryl	T	C	5: 73,098,414 (GRCm38)	Y758C	probably damaging	Het
Gbp4	G	A	5: 105,121,106 (GRCm38)	R394C	possibly damaging	Het
Ggnbp2	A	C	11: 84,833,225 (GRCm38)		probably benign	Het
Gm7137	A	G	10: 77,788,173 (GRCm38)		probably benign	Het
Gstm2	T	A	3: 107,984,006 (GRCm38)	Q132L	probably benign	Het
Habp2	T	C	19: 56,317,717 (GRCm38)		probably benign	Het
Hectd2	T	C	19: 36,584,884 (GRCm38)		probably benign	Het
Htr6	A	G	4: 139,062,081 (GRCm38)	I291T	possibly damaging	Het
Ighg2c	T	C	12: 113,287,910 (GRCm38)	D199G	unknown	Het
Itih2	A	G	2: 10,105,615 (GRCm38)		probably benign	Het
Kcnab2	A	G	4: 152,395,136 (GRCm38)	F248S	probably benign	Het
Kcnc4	T	C	3: 107,445,433 (GRCm38)	K610E	probably damaging	Het
Kcnk16	T	A	14: 20,262,975 (GRCm38)		probably null	Het
Kndc1	C	T	7: 139,930,124 (GRCm38)	T1293I	probably damaging	Het
Lcp1	A	T	14: 75,227,006 (GRCm38)	I556F	possibly damaging	Het
Lrrc8d	T	C	5: 105,811,865 (GRCm38)	L47P	probably damaging	Het
Lyst	T	C	13: 13,711,610 (GRCm38)		probably benign	Het
Macrod2	G	A	2: 142,210,145 (GRCm38)		probably null	Het
Micalcl	C	T	7: 112,381,028 (GRCm38)	R70C	probably damaging	Het
Mllt3	ACTGCTGCTGCTGCTGCTGCT	ACTGCTGCTGCTGCTGCT	4: 87,841,339 (GRCm38)		probably benign	Het
Msh3	A	G	13: 92,346,786 (GRCm38)	V283A	possibly damaging	Het
Nup205	T	C	6: 35,214,634 (GRCm38)		probably benign	Het
Nxpe2	T	C	9: 48,326,614 (GRCm38)	T114A	probably damaging	Het
Olfr1023	A	T	2: 85,887,438 (GRCm38)	I213F	possibly damaging	Het
Olfr1034	A	T	2: 86,047,055 (GRCm38)	H191L	probably benign	Het
Olfr229	A	G	9: 39,909,983 (GRCm38)	Y60C	probably damaging	Het
Olfr78	C	T	7: 102,742,087 (GRCm38)	M305I	probably benign	Het
Olfr893	A	T	9: 38,209,973 (GRCm38)	M305L	probably benign	Het
Pard3	G	A	8: 127,610,566 (GRCm38)	G1221D	probably damaging	Het
Pax5	G	A	4: 44,691,886 (GRCm38)	A120V	probably damaging	Het
Pcsk6	C	T	7: 66,033,874 (GRCm38)	R746C	probably damaging	Het
Pif1	G	A	9: 65,588,051 (GRCm38)	C81Y	probably benign	Het
Plcb1	A	G	2: 135,337,499 (GRCm38)	Y609C	probably damaging	Het
Plcd4	C	A	1: 74,552,097 (GRCm38)	S217Y	probably damaging	Het
Plxna1	G	A	6: 89,357,336 (GRCm38)	H104Y	probably benign	Het
Polr2k	A	G	15: 36,175,456 (GRCm38)	Y45C	probably damaging	Het
Pqlc3	C	A	12: 16,997,710 (GRCm38)		probably benign	Het
Prex1	A	G	2: 166,586,699 (GRCm38)		probably benign	Het
Pth2r	A	G	1: 65,388,439 (GRCm38)	M424V	probably benign	Het
Pygm	A	G	19: 6,391,366 (GRCm38)	R464G	probably benign	Het
Rad51c	A	G	11: 87,397,655 (GRCm38)	L234P	probably damaging	Het
Rnf145	A	G	11: 44,525,138 (GRCm38)	Y60C	probably damaging	Het
Rnf167	T	C	11: 70,649,699 (GRCm38)	I135T	probably damaging	Het
Rnf213	A	T	11: 119,414,469 (GRCm38)	I509F	probably damaging	Het
Ryr2	T	C	13: 11,869,156 (GRCm38)	S213G	probably damaging	Het
Selenbp1	T	C	3: 94,936,913 (GRCm38)	V27A	possibly damaging	Het
Selenof	T	G	3: 144,577,692 (GRCm38)	L14R	probably damaging	Het
Slc25a34	C	A	4: 141,620,469 (GRCm38)	M300I	possibly damaging	Het
Slc34a3	T	G	2: 25,229,110 (GRCm38)	T583P	probably benign	Het
Smg1	C	A	7: 118,182,468 (GRCm38)	A1199S	probably benign	Het
Spint1	A	G	2: 119,245,615 (GRCm38)	T231A	probably damaging	Het
Sptbn1	A	C	11: 30,149,576 (GRCm38)	N229K	probably damaging	Het
Sult2b1	A	G	7: 45,730,092 (GRCm38)		probably benign	Het
Tas2r123	A	T	6: 132,847,838 (GRCm38)	M233L	probably damaging	Het
Tbcel	C	A	9: 42,444,500 (GRCm38)	C139F	probably benign	Het
Thbs2	A	C	17: 14,679,973 (GRCm38)	S573A	probably benign	Het
Tmem132c	A	G	5: 127,563,705 (GRCm38)	E980G	probably damaging	Het
Tmem247	G	T	17: 86,922,322 (GRCm38)	C197F	probably damaging	Het
Tmem251	T	A	12: 102,744,876 (GRCm38)	Y119*	probably null	Het
Tmem43	C	A	6: 91,482,318 (GRCm38)	P257Q	probably benign	Het
Tmprss13	A	G	9: 45,337,132 (GRCm38)		probably null	Het
Trove2	G	T	1: 143,760,075 (GRCm38)	N444K	probably benign	Het
Ubr5	T	C	15: 37,972,980 (GRCm38)	T2626A	probably damaging	Het
Vmn1r196	T	A	13: 22,293,836 (GRCm38)	V215D	probably damaging	Het
Vmn1r22	G	T	6: 57,900,332 (GRCm38)	T220K	probably benign	Het
Vmn2r116	G	A	17: 23,387,279 (GRCm38)	M388I	possibly damaging	Het
Vmn2r74	A	C	7: 85,961,410 (GRCm38)	C25G	probably damaging	Het
Xndc1	T	C	7: 102,080,616 (GRCm38)		probably benign	Het
Zfp282	A	G	6: 47,897,881 (GRCm38)	D340G	probably damaging	Het
Zfp282	T	A	6: 47,905,053 (GRCm38)	I558N	possibly damaging	Het
Zfp316	T	A	5: 143,264,491 (GRCm38)	T56S	unknown	Het
Zfp345	A	G	2: 150,474,559 (GRCm38)		probably benign	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
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
R4785:Sfswap	UTSW	5	129,513,083 (GRCm38)	missense	probably damaging	1.00
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'- ATGGGTGTAGACTTCCCTCCAGTG -3'
(R):5'- CTGCCCTCAAAAGCTGGGAAAATTC -3'

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

Posted On

2013-05-23