Mutagenetix > Incidental Mutation

Incidental Mutation 'R1783:Sfswap'

195714

Institutional Source

Beutler Lab

Gene Symbol

Sfswap

Ensembl Gene

ENSMUSG00000029439

Gene Name

splicing factor SWAP

Synonyms

Sfrs8, 6330437E22Rik, 1190005N23Rik

MMRRC Submission

039814-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1783 (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 129513240 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 267 (V267E)

Ref Sequence

ENSEMBL: ENSMUSP00000062413 (fasta)

Gene Model

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

AlphaFold

Q3USH5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000053737
AA Change: V267E

PolyPhen 2 Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000062413
Gene: ENSMUSG00000029439
AA Change: V267E

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: 97.5%
3x: 96.9%
10x: 95.5%
20x: 93.0%

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: 226 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921539E11Rik	T	A	4: 103,231,089	T307S	probably damaging	Het
4930590J08Rik	T	C	6: 91,919,278	I369T	possibly damaging	Het
Abhd17a	T	A	10: 80,584,026	I115F	probably benign	Het
Acacb	TGGGG	TGGG	5: 114,209,767		probably null	Het
Adgrb2	C	T	4: 130,009,305	T566I	possibly damaging	Het
Adgrf4	C	T	17: 42,666,898	R518Q	possibly damaging	Het
Aspm	A	G	1: 139,473,574	I1111V	probably benign	Het
Bbs9	T	C	9: 22,659,119	V587A	possibly damaging	Het
C4bp	C	G	1: 130,642,988	V284L	probably benign	Het
Cacna1s	T	C	1: 136,118,716	F1761S	probably benign	Het
Camsap2	C	T	1: 136,281,315	R802Q	probably benign	Het
Capn8	T	C	1: 182,598,822	S241P	probably damaging	Het
Capn9	G	A	8: 124,605,711	G430R	possibly damaging	Het
Cars	C	A	7: 143,592,474	R71M	probably damaging	Het
Ccdc93	C	T	1: 121,456,126	P192L	probably benign	Het
Ccdc93	T	C	1: 121,461,939	V237A	probably benign	Het
Cd55	C	T	1: 130,449,423	V333I	probably benign	Het
Cd55	C	A	1: 130,459,633	A143S	probably benign	Het
Cdh19	C	A	1: 110,893,384	E541D	probably damaging	Het
Cdh7	C	G	1: 110,065,735	L307V	possibly damaging	Het
Cep350	A	C	1: 155,928,865	L824R	probably damaging	Het
Cfh	C	T	1: 140,147,697	V268I	possibly damaging	Het
Cfhr2	A	G	1: 139,813,442	M265T	probably benign	Het
Cfhr2	A	C	1: 139,813,459	N259K	probably benign	Het
Chil1	C	T	1: 134,188,529	A250V	probably damaging	Het
Chit1	A	G	1: 134,149,394	R312G	possibly damaging	Het
Chit1	G	T	1: 134,149,395	R312I	probably benign	Het
Cntnap5a	C	A	1: 116,455,004	L1001I	probably benign	Het
Cntnap5a	T	C	1: 116,455,101	L1033S	probably benign	Het
Cntnap5a	C	T	1: 116,455,143	T1047I	probably benign	Het
Crb1	T	C	1: 139,234,779	M1214V	probably benign	Het
Crb1	A	T	1: 139,237,622	H921Q	probably benign	Het
Crb1	G	A	1: 139,241,138	P881S	probably damaging	Het
Crb1	C	T	1: 139,242,995	G825R	probably damaging	Het
Crb1	C	T	1: 139,243,417	R684H	probably benign	Het
Cxcr4	C	T	1: 128,589,277	V216I	probably benign	Het
Cyb5r1	C	T	1: 134,407,667	R147W	probably damaging	Het
Ddx59	T	C	1: 136,417,053	V154A	probably benign	Het
Dock10	T	G	1: 80,574,180	Y659S	probably benign	Het
Dsel	T	C	1: 111,859,457	N1116S	probably benign	Het
Dsel	G	C	1: 111,859,994	T937S	probably benign	Het
Dsg2	G	A	18: 20,591,880	V448I	probably benign	Het
Dstyk	C	T	1: 132,456,984	L739F	probably damaging	Het
Efnb2	G	T	8: 8,623,237	T140K	probably damaging	Het
En1	A	G	1: 120,603,621	S197G	unknown	Het
Eogt	T	C	6: 97,113,864	D438G	probably damaging	Het
Etnk2	A	G	1: 133,363,923	S54G	probably benign	Het
Etnk2	C	A	1: 133,365,587	D89E	probably benign	Het
Etnk2	G	T	1: 133,365,765	G149W	probably damaging	Het
Etnk2	C	T	1: 133,365,816	R166*	probably null	Het
Etnk2	G	A	1: 133,365,817	R166Q	probably benign	Het
Etnk2	T	A	1: 133,376,915	V292E	probably benign	Het
Etnk2	G	T	1: 133,377,046	A336S	probably benign	Het
Etnppl	A	G	3: 130,620,749	T98A	probably damaging	Het
Fam131b	T	G	6: 42,318,580	Q221P	possibly damaging	Het
Fam72a	T	C	1: 131,530,668	I56T	probably benign	Het
Fam72a	C	T	1: 131,538,895	T139M	probably benign	Het
Fam90a1a	A	G	8: 21,963,463	N278S	probably benign	Het
Fbxo40	T	A	16: 36,966,222	M662L	probably damaging	Het
Fcamr	A	C	1: 130,804,627	N117T	probably benign	Het
Fcamr	A	G	1: 130,811,580	I206V	probably benign	Het
Fcamr	G	A	1: 130,812,629	G262S	probably benign	Het
Fcamr	A	G	1: 130,812,692	I283V	probably benign	Het
Fcamr	T	C	1: 130,812,738	V298A	probably benign	Het
Fcamr	A	G	1: 130,812,809	M322V	probably benign	Het
Fcamr	C	T	1: 130,812,816	P324L	probably benign	Het
Fcamr	A	G	1: 130,814,597	N574D	probably benign	Het
Fcmr	A	G	1: 130,875,974	T172A	probably benign	Het
Fcmr	T	C	1: 130,878,269	S321P	probably benign	Het
Fmo9	A	T	1: 166,673,648	F192L	probably benign	Het
Gabarap	C	T	11: 69,991,689		probably benign	Het
Gatad2a	G	T	8: 69,909,936	H600N	probably damaging	Het
Gemin4	G	C	11: 76,211,050	P962A	probably damaging	Het
Git2	T	C	5: 114,739,124	E99G	probably damaging	Het
Gli2	C	T	1: 118,868,087	A113T	possibly damaging	Het
Gli2	G	T	1: 119,002,044	H44Q	probably benign	Het
Glrx2	C	T	1: 143,739,740	A27V	possibly damaging	Het
Gm10961	T	C	3: 107,632,994		probably benign	Het
Gm13119	G	T	4: 144,361,725	E30D	probably benign	Het
Gpr25	G	A	1: 136,260,710	P55L	probably benign	Het
Gpsm3	G	A	17: 34,590,754	R52H	possibly damaging	Het
Grm7	G	C	6: 111,358,295	D556H	probably damaging	Het
Hdac5	A	G	11: 102,200,516	F683L	probably benign	Het
Ift20	G	A	11: 78,540,034	E68K	probably damaging	Het
Igfn1	G	A	1: 135,959,928	P2466L	probably damaging	Het
Igfn1	G	A	1: 135,968,199	A1543V	probably benign	Het
Igfn1	T	C	1: 135,970,411	S806G	probably benign	Het
Igfn1	C	T	1: 135,972,127	R482Q	probably benign	Het
Igfn1	C	T	1: 135,979,915	A231T	probably benign	Het
Igfn1	G	A	1: 135,982,475	R124W	probably benign	Het
Igfn1	T	C	1: 135,998,625	E29G	probably benign	Het
Igfn1	T	C	1: 135,998,683	I10V	unknown	Het
Ikbke	C	A	1: 131,265,937	A459S	probably benign	Het
Ikbke	T	C	1: 131,269,823	S447G	probably benign	Het
Ipo9	ATCCTCCTCCTCCTCCTC	ATCCTCCTCCTCCTCCTCCTC	1: 135,386,268		probably benign	Het
Ipo9	A	G	1: 135,402,250	V484A	probably benign	Het
Irx5	A	C	8: 92,359,688	E133A	probably damaging	Het
Itgb5	C	T	16: 33,940,562	T589I	probably benign	Het
Jarid2	T	A	13: 44,906,276	N661K	probably damaging	Het
Kcna5	A	T	6: 126,533,860	I435N	probably damaging	Het
Kcnj5	T	C	9: 32,322,192	I276V	probably damaging	Het
Kcnt2	G	A	1: 140,354,547	S90N	probably benign	Het
Kif14	A	G	1: 136,468,279	N108D	probably benign	Het
Kif14	A	G	1: 136,468,975	K340E	probably damaging	Het
Kif14	G	A	1: 136,478,365	A556T	probably benign	Het
Kif14	A	G	1: 136,490,332	S868G	probably benign	Het
Kif14	C	T	1: 136,503,431	L1189F	probably benign	Het
Kif14	T	C	1: 136,515,961	F1291L	probably benign	Het
Kif14	T	C	1: 136,525,783	V1433A	probably benign	Het
Krt2	T	C	15: 101,813,973	R426G	probably damaging	Het
Lad1	C	T	1: 135,827,381	P132S	possibly damaging	Het
Lad1	C	T	1: 135,828,023	R346C	probably damaging	Het
Lax1	T	C	1: 133,679,978	R342G	probably benign	Het
Lax1	T	C	1: 133,680,569	N145D	probably benign	Het
Lax1	G	A	1: 133,683,634	P67S	probably damaging	Het
Lgr6	C	T	1: 134,987,088	V641I	probably benign	Het
Lgr6	A	T	1: 134,988,009	S334T	probably benign	Het
Lgr6	G	T	1: 134,990,635	H263N	probably benign	Het
Lgr6	C	T	1: 135,003,476	S3N	probably benign	Het
Lin7b	A	T	7: 45,369,927	H72Q	probably benign	Het
Lmod1	C	T	1: 135,364,073	T222I	probably benign	Het
Map3k9	A	T	12: 81,722,226	V1016E	probably damaging	Het
Mcam	T	C	9: 44,134,706	L6P	probably damaging	Het
Mgam	A	G	6: 40,664,860	H549R	possibly damaging	Het
Miip	G	A	4: 147,865,774	P122S	probably damaging	Het
Mkrn1	T	A	6: 39,400,456	N282Y	probably null	Het
Mrc1	T	C	2: 14,327,844	V1285A	probably benign	Het
Mroh3	G	C	1: 136,192,144	Q440E	possibly damaging	Het
Mybpc1	T	C	10: 88,570,568	D152G	probably damaging	Het
Mybph	C	T	1: 134,197,480	R249C	probably benign	Het
Myh7b	A	G	2: 155,625,672	D739G	possibly damaging	Het
Nav1	A	T	1: 135,584,727	D198E	possibly damaging	Het
Nfkbib	A	T	7: 28,762,055	Y86N	probably damaging	Het
Nr5a2	C	A	1: 136,952,125	R35L	probably benign	Het
Nrip1	G	T	16: 76,292,890	T593K	probably benign	Het
Obscn	A	G	11: 59,073,633	Y726H	probably damaging	Het
Obsl1	G	A	1: 75,486,756	T1764M	probably benign	Het
Olfr1240	C	T	2: 89,439,583	R232H	probably benign	Het
Olfr1307	T	C	2: 111,945,288	H56R	probably benign	Het
Olfr924	T	A	9: 38,848,972	I286K	probably damaging	Het
Olfr951	T	C	9: 39,394,222	Y144H	probably benign	Het
Optc	A	T	1: 133,903,796		probably null	Het
Optc	C	G	1: 133,905,170	S64T	probably benign	Het
Pard6g	T	A	18: 80,079,825	F25I	probably damaging	Het
Parp6	C	A	9: 59,633,538	C291*	probably null	Het
Perm1	C	T	4: 156,218,531	R511*	probably null	Het
Pigr	C	T	1: 130,844,522	A159V	possibly damaging	Het
Pik3c2b	C	T	1: 133,066,627	P110S	probably benign	Het
Plekha6	C	G	1: 133,287,846	T792S	probably benign	Het
Pole	T	A	5: 110,297,430	L481Q	probably damaging	Het
Polr2i	T	C	7: 30,233,068	C67R	probably damaging	Het
Ppfia4	G	A	1: 134,299,321	P1159S	probably benign	Het
Prelp	C	T	1: 133,915,131	R92K	probably benign	Het
Ptgfrn	T	C	3: 101,056,442	N618S	possibly damaging	Het
Ptpn7	A	G	1: 135,134,475	Q53R	probably benign	Het
Ptprc	T	G	1: 138,099,676	N478T	probably benign	Het
Ptprc	A	G	1: 138,107,823	S405P	probably benign	Het
Ptprc	C	A	1: 138,107,824	E402D	probably benign	Het
Ptprc	A	G	1: 138,107,837	V400A	probably benign	Het
Ptprc	T	C	1: 138,112,254	K212E	possibly damaging	Het
Rab29	A	G	1: 131,872,110	Q141R	probably benign	Het
Ren1	C	G	1: 133,350,778		probably null	Het
Ren1	T	A	1: 133,354,206	W22R	probably damaging	Het
Ren1	C	T	1: 133,354,237	T32I	probably benign	Het
Ren1	A	T	1: 133,359,079	E315D	probably benign	Het
Ren1	A	T	1: 133,359,983	N352Y	probably benign	Het
Ren1	C	G	1: 133,360,007	L360V	probably benign	Het
Rims1	C	T	1: 22,346,529		probably null	Het
Rnpep	C	T	1: 135,263,096	A571T	possibly damaging	Het
Rnpep	G	C	1: 135,283,977	A11G	probably benign	Het
Rps19bp1	CCTTCTTCTTCTTCTTCTTCTT	CCTTCTTCTTCTTCTTCTT	15: 80,261,049		probably benign	Het
Rsph4a	T	C	10: 33,911,636	I596T	probably damaging	Het
Ryr2	A	T	13: 11,700,371	Y2770*	probably null	Het
Sctr	T	C	1: 120,031,656	F110L	probably benign	Het
Sept4	A	T	11: 87,583,436	Q60L	probably benign	Het
Serpinb10	C	T	1: 107,538,473	S63F	probably damaging	Het
Serpinb2	G	A	1: 107,515,635	A55T	probably damaging	Het
Serpinb2	C	A	1: 107,523,834	A239E	probably benign	Het
Serpinb2	C	T	1: 107,523,890	H258Y	probably benign	Het
Serpinb2	C	T	1: 107,523,894	T259I	probably benign	Het
Serpinb2	A	C	1: 107,524,543	S284R	probably benign	Het
Serpinb8	A	G	1: 107,597,527	S20G	probably benign	Het
Serpinb8	G	A	1: 107,598,954	A75T	probably benign	Het
Serpinb8	A	C	1: 107,607,004	L268F	probably benign	Het
Sertad4	T	C	1: 192,847,032	T159A	probably benign	Het
Setd1a	T	A	7: 127,785,124	Y382*	probably null	Het
Shank1	T	A	7: 44,352,737	D1293E	possibly damaging	Het
Slc26a9	C	T	1: 131,763,870	A617V	probably benign	Het
Slc26a9	C	A	1: 131,766,012	R747S	probably benign	Het
Slc36a1	A	G	11: 55,223,672	D192G	probably damaging	Het
Slc4a4	T	A	5: 89,132,414	L366Q	probably damaging	Het
Sorcs1	T	C	19: 50,228,309		probably null	Het
Steap3	T	C	1: 120,227,750	N493S	probably benign	Het
Steap3	G	A	1: 120,234,378	A350V	probably benign	Het
Svep1	T	A	4: 58,073,333	Y1992F	probably benign	Het
Syce1l	A	G	8: 113,654,834	R152G	possibly damaging	Het
Tbc1d17	A	C	7: 44,845,131	S227A	probably damaging	Het
Telo2	A	T	17: 25,102,738		probably null	Het
Thsd7b	C	T	1: 129,628,891	T328I	probably damaging	Het
Thsd7b	T	A	1: 129,667,937	F498Y	probably benign	Het
Thsd7b	G	C	1: 129,678,183	A554P	probably benign	Het
Thsd7b	A	C	1: 130,116,631	Q1116P	probably benign	Het
Tmem143	G	A	7: 45,907,002	D144N	possibly damaging	Het
Tmprss11a	T	A	5: 86,420,032	I279F	probably damaging	Het
Tnc	A	G	4: 64,018,096	L201P	probably damaging	Het
Tnnt2	C	T	1: 135,845,506		probably benign	Het
Trove2	C	T	1: 143,760,014	V465I	probably benign	Het
Trove2	T	C	1: 143,760,034	D458G	probably benign	Het
Ttn	A	G	2: 76,788,901		probably null	Het
Ttn	C	T	2: 76,813,339	G11436R	probably damaging	Het
Ube2t	C	T	1: 134,972,167	A149V	probably benign	Het
Unc80	G	A	1: 66,683,273	M3015I	probably benign	Het
Usp9y	A	T	Y: 1,367,093	V998D	probably benign	Het
Utrn	A	G	10: 12,463,339	F2858S	probably damaging	Het
Vmn1r224	T	C	17: 20,419,185	I8T	probably benign	Het
Vmn2r107	T	C	17: 20,356,513	S258P	possibly damaging	Het
Wars	A	C	12: 108,875,741	F160C	probably damaging	Het
Xirp1	T	G	9: 120,016,907	Q970P	probably benign	Het
Zc3h11a	G	A	1: 133,622,154	P695S	probably benign	Het
Zc3h11a	C	T	1: 133,624,621	V583I	probably benign	Het
Zfp28	A	T	7: 6,394,792	Y742F	probably damaging	Het
Zfp541	A	G	7: 16,077,973	T184A	probably damaging	Het
Zfp623	T	C	15: 75,947,911	S239P	probably damaging	Het
Zfp804b	T	C	5: 6,771,938	D375G	probably damaging	Het
Zp3r	A	G	1: 130,596,814	L164P	probably benign	Het
Zp3r	C	A	1: 130,619,414	E8D	possibly 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
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'- ACTTCGTATGCAAGCAGGGAGCAC -3'
(R):5'- AGGAAACATTTGCAGCCTGGATGAC -3'

Sequencing Primer
(F):5'- GCACAGTTCGAGATCATGC -3'
(R):5'- GGATGACCACTTGGCTCTCAC -3'

Posted On

2014-05-23