Mutagenetix > Incidental Mutation

Incidental Mutation 'R0184:Sfswap'

23949

Institutional Source

Beutler Lab

Gene Symbol

Sfswap

Ensembl Gene

ENSMUSG00000029439

Gene Name

splicing factor SWAP

Synonyms

Sfrs8, 6330437E22Rik, 1190005N23Rik

MMRRC Submission

038449-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0184 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

129501221-129571384 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 129507189 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 189 (I189N)

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: I189N

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000062413
Gene: ENSMUSG00000029439
AA Change: I189N

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: 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

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.6%
20x: 93.9%

Validation Efficiency

66% (50/76)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	C	A	3: 124,419,250	V131F	probably damaging	Het
Adam28	T	C	14: 68,637,373	D285G	probably benign	Het
Akr1c13	A	G	13: 4,194,056	E36G	probably damaging	Het
Antxr2	A	G	5: 97,980,030	L214S	probably damaging	Het
Arhgap26	T	A	18: 38,617,673	D46E	unknown	Het
Armc9	T	C	1: 86,198,370	L61P	probably damaging	Het
Bicc1	C	A	10: 71,079,215	R73L	probably benign	Het
Calm2	T	C	17: 87,435,841	N43S	probably benign	Het
Cct7	A	G	6: 85,461,554	D105G	probably null	Het
Cdk18	T	C	1: 132,118,538	N215D	probably benign	Het
Cep126	T	C	9: 8,103,395	T205A	probably benign	Het
Cfap57	A	T	4: 118,599,012	I495N	probably damaging	Het
Cyp2b9	T	A	7: 26,187,007	C152*	probably null	Het
Dab2ip	G	A	2: 35,718,791	R579H	probably damaging	Het
Dnah8	T	C	17: 30,683,683	V905A	probably benign	Het
Eif4h	C	A	5: 134,625,375	D134Y	possibly damaging	Het
Espl1	T	A	15: 102,299,216	S372T	probably benign	Het
Fat2	T	A	11: 55,296,288	H1244L	probably damaging	Het
Fbxo11	T	A	17: 88,008,673	N443I	probably benign	Het
Git2	G	A	5: 114,739,037	T128M	possibly damaging	Het
Gm10985	T	A	3: 53,845,258	Y21N	probably damaging	Het
Gm12790	A	T	4: 101,967,614	Y152*	probably null	Het
Heatr5a	T	C	12: 51,909,969	D1115G	probably benign	Het
Hipk2	T	C	6: 38,718,931	N726S	possibly damaging	Het
Hrg	T	C	16: 22,953,771		probably null	Het
Iars	T	G	13: 49,722,212	S792A	probably benign	Het
Igf1r	A	G	7: 68,226,193	N1301S	possibly damaging	Het
Il22	A	T	10: 118,205,606	I75F	probably damaging	Het
Ilkap	T	C	1: 91,376,305		probably benign	Het
Ints13	A	T	6: 146,555,044	Y435N	probably benign	Het
Ints8	A	C	4: 11,218,637	S797A	probably benign	Het
Itgad	T	A	7: 128,189,231	D405E	probably benign	Het
Itgam	A	T	7: 128,086,058	I448F	probably damaging	Het
Klk1	C	T	7: 44,228,749	T41I	possibly damaging	Het
Mcrip1	T	C	11: 120,544,884	M1V	probably null	Het
Mdga1	A	G	17: 29,852,442	Y128H	probably damaging	Het
Mtor	G	T	4: 148,464,971	R604L	probably benign	Het
Olfr1170	A	T	2: 88,224,780	L84*	probably null	Het
Olfr656	T	C	7: 104,618,240	V187A	probably damaging	Het
Pcdhb7	T	A	18: 37,343,390	D526E	probably benign	Het
Pip4k2a	T	C	2: 18,889,128	D139G	probably damaging	Het
Pkp3	A	C	7: 141,088,367	N536T	probably benign	Het
Pla2g4c	T	A	7: 13,356,220	S524T	probably benign	Het
Pno1	T	C	11: 17,211,127	E69G	probably benign	Het
Pold1	C	T	7: 44,541,715	V231M	probably benign	Het
Poli	A	G	18: 70,522,731	S248P	probably damaging	Het
Ppox	C	T	1: 171,279,552	S138N	probably damaging	Het
Psg20	T	C	7: 18,685,976	E6G	probably null	Het
Rbmx	C	T	X: 57,391,566		probably null	Het
Rln1	T	A	19: 29,331,936	K148*	probably null	Het
Rnf213	C	T	11: 119,414,521	T526I	probably damaging	Het
Rps6kc1	A	T	1: 190,799,093	V904E	probably null	Het
Sf3b2	T	A	19: 5,283,672	I633F	probably damaging	Het
Smarca2	T	A	19: 26,692,249	Y973*	probably null	Het
Spink5	G	A	18: 44,003,198	D559N	probably benign	Het
Spty2d1	C	T	7: 46,997,574	V536I	possibly damaging	Het
Tbx3	T	C	5: 119,675,562	I221T	probably damaging	Het
Tcf20	T	A	15: 82,852,300	D1650V	probably damaging	Het
Thsd7b	A	G	1: 129,430,964	K45R	probably benign	Het
Tirap	A	G	9: 35,189,194	S65P	probably benign	Het
Trim25	C	T	11: 88,999,640	P51L	probably damaging	Het
Trim61	T	C	8: 65,014,417	N64S	probably benign	Het
Twf1	T	A	15: 94,581,067		probably null	Het
Ubr4	A	C	4: 139,445,262	T1692P	probably damaging	Het
Usp3	A	G	9: 66,562,581	M86T	probably damaging	Het
Utrn	T	C	10: 12,667,618	D1762G	probably benign	Het
V1rd19	T	A	7: 24,003,207	F33I	probably benign	Het
Vmn2r52	T	C	7: 10,159,338	S625G	probably damaging	Het
Vmn2r90	G	A	17: 17,726,877	W472*	probably null	Het
Vrk2	C	A	11: 26,550,046	A56S	probably damaging	Het
Yeats2	C	T	16: 20,203,685	P620S	possibly damaging	Het
Zbtb21	C	T	16: 97,950,513	D171N	probably damaging	Het
Zeb1	A	T	18: 5,766,808	I440F	probably damaging	Het
Zfp292	A	G	4: 34,819,563	I253T	probably damaging	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
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
R0415:Sfswap	UTSW	5	129504126	missense	probably damaging	1.00
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
R8943:Sfswap	UTSW	5	129504104	missense	probably damaging	1.00
R9119:Sfswap	UTSW	5	129514765	missense	probably benign
R9587:Sfswap	UTSW	5	129541363	missense	probably benign	0.00
R9601:Sfswap	UTSW	5	129541399	missense	possibly damaging	0.94
R9718:Sfswap	UTSW	5	129539784	missense	probably benign
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'- ACCTCTTTGGAATCCGTGAATGGTG -3'
(R):5'- GATTGAGTGCATGGAGTCCCTGAAC -3'

Sequencing Primer
(F):5'- CCGTGAATGGTGCTCTTCAAAG -3'
(R):5'- agccatctctccagccc -3'

Posted On

2013-04-16