Mutagenetix > Incidental Mutation

Incidental Mutation 'R7747:Sfswap'

628409

Institutional Source

Beutler Lab

Gene Symbol

Sfswap

Ensembl Gene

ENSMUSG00000029439

Gene Name

splicing factor SWAP

Synonyms

Sfrs8, 6330437E22Rik, 1190005N23Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7747 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

129501221-129571384 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

G to T at 129550593 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000062413 (fasta)

Gene Model

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

AlphaFold

Q3USH5

Predicted Effect

probably null
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

Predicted Effect

probably benign
Transcript: ENSMUST00000199215

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (89/89)

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010109A12Rik	G	A	5: 93,206,557		probably null	Het
2410004P03Rik	C	T	12: 17,007,148	S116N	probably damaging	Het
3425401B19Rik	T	C	14: 32,663,069	D313G	possibly damaging	Het
AA986860	A	G	1: 130,743,547	E502G	possibly damaging	Het
Adamts20	T	A	15: 94,291,587	K1462*	probably null	Het
Adgrg6	A	C	10: 14,450,577		probably null	Het
Ankrd13d	G	A	19: 4,280,985	H165Y	probably damaging	Het
Arap3	T	C	18: 37,988,888		probably null	Het
Arhgap33	A	G	7: 30,524,135	V823A	probably damaging	Het
Aup1	C	A	6: 83,054,795	P34T	unknown	Het
Bcl2l2	C	T	14: 54,884,379		probably benign	Het
Bicc1	T	C	10: 70,946,993	T515A	probably benign	Het
Ccdc73	A	C	2: 104,929,556	K106Q	probably damaging	Het
Celsr3	G	A	9: 108,829,978	R1220Q	possibly damaging	Het
Cep290	C	T	10: 100,558,176	Q2082*	probably null	Het
Cercam	A	G	2: 29,871,286	D104G	probably benign	Het
Champ1	A	G	8: 13,879,990	H716R	probably damaging	Het
Cntrl	A	T	2: 35,116,798	I159F	probably damaging	Het
Col11a1	T	C	3: 114,102,572	I507T	unknown	Het
Cped1	T	C	6: 22,143,974	I573T	probably damaging	Het
Crot	C	T	5: 8,968,869		probably null	Het
D1Pas1	T	A	1: 186,968,677	S268T	probably benign	Het
Erich6	A	G	3: 58,618,928	V551A	probably damaging	Het
Fbxo32	T	C	15: 58,191,361	N192S	probably damaging	Het
Fgd6	T	C	10: 94,044,916	V544A	probably damaging	Het
Fnbp1	C	T	2: 31,036,147	G552E	probably damaging	Het
Gjb5	A	T	4: 127,356,162	V63D	probably damaging	Het
Gm10053	T	C	19: 24,876,039	I96T	probably benign	Het
Gm11639	T	G	11: 104,842,603	I2011S	probably damaging	Het
Gm38119	T	C	3: 92,738,021	S89G	unknown	Het
Gm884	A	T	11: 103,614,255	S2296T	probably damaging	Het
Gpn2	A	G	4: 133,586,045	I183V	probably benign	Het
Greb1	C	T	12: 16,674,795	V1793M	probably benign	Het
H2-Q7	A	G	17: 35,440,061	I163V	probably benign	Het
Hrh2	T	C	13: 54,214,530	V175A	possibly damaging	Het
Hsd3b3	C	T	3: 98,743,898	V79I	possibly damaging	Het
Itgb7	T	C	15: 102,216,604	I727M	possibly damaging	Het
Kcnj16	T	A	11: 111,024,743	F77Y	probably damaging	Het
Lilra6	T	A	7: 3,912,996	Q288L	probably benign	Het
Malrd1	G	A	2: 16,074,835	V1788M	unknown	Het
Mau2	T	C	8: 70,026,723	I349V	possibly damaging	Het
Mbnl3	C	T	X: 51,130,334	R181H	probably damaging	Het
Mfsd6	T	C	1: 52,676,547	T524A	probably benign	Het
Mical2	G	T	7: 112,333,839	R740L	probably benign	Het
Mknk1	G	A	4: 115,878,072	C379Y	possibly damaging	Het
Mta3	A	T	17: 83,791,736	K410*	probably null	Het
Myb	A	C	10: 21,156,425	I19S	possibly damaging	Het
Ncor2	A	G	5: 125,027,038	F996S		Het
Nlrp1a	T	C	11: 71,123,408	M339V	possibly damaging	Het
Olfr136	C	T	17: 38,335,394	P79L	probably benign	Het
Olfr689	A	G	7: 105,314,447	K148E	probably damaging	Het
Pcdhga5	C	T	18: 37,696,782	T761I	possibly damaging	Het
Pcmtd2	T	C	2: 181,851,659	L219P	possibly damaging	Het
Pfdn1	C	T	18: 36,432,305		probably null	Het
Pkn3	G	A	2: 30,090,584	C829Y	probably benign	Het
Pld1	T	C	3: 28,087,189	S634P	possibly damaging	Het
Pofut2	T	G	10: 77,262,470	V139G	possibly damaging	Het
Prdm12	C	A	2: 31,653,871		probably null	Het
Prkar2b	C	A	12: 32,060,938	A49S	probably benign	Het
Prmt1	A	T	7: 44,984,136		probably null	Het
Rab39	A	T	9: 53,686,400	D188E	probably benign	Het
Repin1	G	T	6: 48,597,345	E403*	probably null	Het
Scgb1b19	A	G	7: 33,287,498	I25V	probably benign	Het
Scn9a	A	T	2: 66,484,298	I1692N	probably damaging	Het
Sdk1	G	T	5: 142,084,491	G1137V	probably damaging	Het
Sec16b	A	G	1: 157,565,472	T950A	possibly damaging	Het
Senp2	G	T	16: 22,038,622	R398L	probably damaging	Het
Sh3rf1	A	G	8: 61,353,753	T362A	probably damaging	Het
Slc17a1	A	T	13: 23,888,052	I418F	probably benign	Het
Slc1a4	A	T	11: 20,308,587	M284K	probably damaging	Het
Slc5a2	A	T	7: 128,266,395		probably null	Het
Slco5a1	A	G	1: 12,990,122	V125A	probably benign	Het
Smu1	A	G	4: 40,748,600	V230A	probably benign	Het
Sp4	A	G	12: 118,254,404		probably null	Het
Stbd1	A	G	5: 92,605,557	K302R	probably damaging	Het
Stx2	A	T	5: 128,986,417	V268D	probably benign	Het
Tbc1d9b	G	A	11: 50,161,620	A885T	probably benign	Het
Tbce	T	A	13: 14,006,478	D267V	possibly damaging	Het
Tert	T	C	13: 73,627,606	Y159H	probably damaging	Het
Thbs2	T	A	17: 14,670,039	I1102F	possibly damaging	Het
Tmprss7	G	C	16: 45,683,510	A183G	probably benign	Het
Top3b	C	A	16: 16,887,721	P450Q	probably benign	Het
Trpm6	A	T	19: 18,750,045		probably null	Het
Ube4a	T	C	9: 44,925,973	D988G	probably damaging	Het
Vmn1r158	A	T	7: 22,790,300	S161R	probably benign	Het
Vps41	T	C	13: 18,841,252		probably null	Het
Zfp354c	TCACACTCGGCACA	TCACA	11: 50,815,240		probably benign	Het
Zfp617	T	A	8: 71,928,189		probably null	Het
Zfp808	C	T	13: 62,171,505	H183Y	probably benign	Het
Zfy1	A	T	Y: 725,496	C756*	probably null	Het
Zswim2	A	T	2: 83,915,607	Y496N	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
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
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
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'- CTCAGACACTTGCCACTTGG -3'
(R):5'- CTTTTACGTTCAGCCTGAAGC -3'

Sequencing Primer
(F):5'- ACACTTGCCACTTGGAGTGTG -3'
(R):5'- GCCTGAAGCTGCTTCTCC -3'

Posted On

2020-03-19