Mutagenetix > Incidental Mutation

Incidental Mutation 'R1532:Fras1'

166641

Institutional Source

Beutler Lab

Gene Symbol

Fras1

Ensembl Gene

ENSMUSG00000034687

Gene Name

Fraser extracellular matrix complex subunit 1

Synonyms

bl, E130113P14Rik

MMRRC Submission

039571-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1532 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

96373955-96784728 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 96713996 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 2163 (H2163L)

Ref Sequence

ENSEMBL: ENSMUSP00000043250 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036019]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000036019
AA Change: H2163L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000043250
Gene: ENSMUSG00000034687
AA Change: H2163L

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
VWC	27	86	9.23e-9	SMART
VWC	94	151	9.37e-10	SMART
VWC	158	215	8.61e-9	SMART
VWC	220	277	7.1e-10	SMART
VWC	284	341	7.8e-7	SMART
VWC	365	415	1.93e-1	SMART
FU	408	459	3.33e-1	SMART
FU	461	504	9.12e-8	SMART
EGF_like	466	495	6.67e1	SMART
FU	506	552	6.01e-8	SMART
FU	554	598	2.21e-6	SMART
FU	601	646	1.28e-11	SMART
FU	648	704	4.19e-7	SMART
FU	707	752	9.12e-8	SMART
FU	754	799	1.11e-6	SMART
EGF_like	759	790	7.23e1	SMART
FU	802	851	5.44e-6	SMART
EGF_like	807	842	4.55e1	SMART
FU	853	899	7.4e-8	SMART
FU	902	947	4.78e-2	SMART
FU	951	996	4.52e-12	SMART
EGF_like	956	987	2.75e1	SMART
FU	998	1041	1.38e-7	SMART
FU	1045	1088	9.7e-3	SMART
EGF_like	1057	1096	3.16e1	SMART
Pfam:Cadherin_3	1098	1198	5.2e-12	PFAM
Pfam:Cadherin_3	1167	1309	6.5e-27	PFAM
Pfam:Cadherin_3	1278	1442	7e-24	PFAM
Pfam:Cadherin_3	1411	1560	1.3e-23	PFAM
Pfam:Cadherin_3	1561	1693	6.4e-15	PFAM
Pfam:Cadherin_3	1695	1814	1.1e-10	PFAM
Pfam:Cadherin_3	1780	1940	1.6e-18	PFAM
Pfam:Cadherin_3	1906	2061	2.8e-22	PFAM
Pfam:Cadherin_3	2063	2181	3.3e-18	PFAM
Pfam:Cadherin_3	2172	2295	1.4e-26	PFAM
Pfam:Cadherin_3	2296	2408	2.3e-31	PFAM
Pfam:Cadherin_3	2413	2540	7.9e-23	PFAM
Calx_beta	2544	2648	1.23e-10	SMART
Calx_beta	2661	2772	3.3e-11	SMART
Calx_beta	2787	2892	1.21e-9	SMART
Calx_beta	2907	3009	4.45e-3	SMART
Calx_beta	3027	3131	1.5e-14	SMART
Blast:Calx_beta	3162	3187	1e-5	BLAST
transmembrane domain	3902	3924	N/A	INTRINSIC
low complexity region	3927	3935	N/A	INTRINSIC

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an extracellular matrix protein that appears to function in the regulation of epidermal-basement membrane adhesion and organogenesis during development. Mutations in this gene cause Fraser syndrome, a multisystem malformation that can include craniofacial, urogenital and respiratory system abnormalities. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for mutations at this locus display a significant amount of embryonic lethality due to hemorrhaging of embryonic blisters. Survival is variable on genetic backgrounds. Kidney development is severely affected and syndactyly is common. [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
Adamtsl1	C	A	4: 86,248,065	H394N	probably benign	Het
Ahrr	A	G	13: 74,213,707	S558P	probably benign	Het
Ankrd26	T	C	6: 118,522,958	N1184S	probably damaging	Het
Anpep	A	T	7: 79,826,948	C14*	probably null	Het
Arhgap18	A	G	10: 26,860,722	D187G	possibly damaging	Het
Arhgef5	A	G	6: 43,273,403	T363A	probably benign	Het
Atxn1	A	T	13: 45,566,910	L503Q	possibly damaging	Het
Babam1	A	G	8: 71,399,633	D155G	possibly damaging	Het
Bbs9	A	G	9: 22,887,649	T858A	probably benign	Het
Cacna1g	C	A	11: 94,443,331	G828V	probably damaging	Het
Ccar2	T	C	14: 70,142,956	T392A	probably benign	Het
Cd163	T	C	6: 124,312,730	V469A	possibly damaging	Het
Cdh23	G	T	10: 60,314,331	N2576K	probably damaging	Het
Coro2b	A	G	9: 62,489,423	Y18H	probably damaging	Het
Crispld2	G	T	8: 120,023,572	K238N	probably benign	Het
Ctnnd2	T	C	15: 30,921,868	I880T	probably damaging	Het
Cubn	C	A	2: 13,287,661	C3237F	probably damaging	Het
Ddx31	A	G	2: 28,881,159	M519V	probably benign	Het
Dhx32	A	T	7: 133,749,024	C106S	possibly damaging	Het
Diaph1	A	G	18: 37,896,093		probably null	Het
Dnaaf1	T	C	8: 119,577,423	F67L	probably benign	Het
Duox1	T	G	2: 122,344,723	L1334R	probably damaging	Het
Dync1li2	A	T	8: 104,426,035	I322N	probably damaging	Het
Eml6	T	C	11: 29,792,256		probably null	Het
Entpd6	A	G	2: 150,758,750	Q126R	probably benign	Het
Entpd7	C	G	19: 43,691,077	P23R	possibly damaging	Het
Epha3	T	C	16: 63,546,178	I970V	probably benign	Het
Gse1	C	G	8: 120,568,210		probably benign	Het
Heatr5a	A	G	12: 51,952,518	V300A	probably damaging	Het
Hsd3b1	T	A	3: 98,852,898	D259V	probably damaging	Het
Hspbap1	T	C	16: 35,825,303	S453P	probably damaging	Het
Ifnl3	A	G	7: 28,524,227	T163A	probably benign	Het
Igbp1b	T	A	6: 138,658,444	M1L	possibly damaging	Het
Klra3	G	C	6: 130,333,144	R138G	probably benign	Het
Lpxn	T	C	19: 12,804,092		probably null	Het
Mast1	G	A	8: 84,928,609	Q249*	probably null	Het
Mink1	A	G	11: 70,602,007	D153G	probably null	Het
Mllt10	G	A	2: 18,092,835		probably null	Het
Mpl	C	T	4: 118,448,568	G420E	possibly damaging	Het
Ms4a1	T	A	19: 11,253,193	T215S	probably benign	Het
Ncapd3	C	T	9: 27,083,360	Q1179*	probably null	Het
Nr3c2	A	G	8: 76,909,104	H278R	probably damaging	Het
Olfr1417	T	C	19: 11,828,619	I136V	probably benign	Het
Olfr1454	A	G	19: 13,064,275	Y288C	probably damaging	Het
Olfr670	T	C	7: 104,960,265	I156V	probably benign	Het
Os9	C	T	10: 127,098,902	V353M	probably damaging	Het
Osbpl5	A	T	7: 143,695,080	M589K	probably benign	Het
Phf20	G	T	2: 156,303,049	G859V	possibly damaging	Het
Pkhd1	G	A	1: 20,117,401	T3561I	probably benign	Het
Prss46	G	A	9: 110,850,168	V146I	probably benign	Het
Ptprk	G	A	10: 28,585,630	V1139M	probably damaging	Het
Ranbp10	A	G	8: 105,774,331	L396P	probably benign	Het
Rb1cc1	A	G	1: 6,249,734	T1126A	probably benign	Het
Rbl2	G	A	8: 91,106,417	A659T	probably benign	Het
Rdm1	T	C	11: 101,633,817	L192P	probably damaging	Het
Reln	A	C	5: 22,034,744	W842G	probably damaging	Het
Scn5a	C	T	9: 119,533,847	R569H	probably damaging	Het
Sele	A	G	1: 164,053,851	K509R	probably benign	Het
Slc15a1	A	T	14: 121,475,984	I377N	possibly damaging	Het
Slc17a3	G	A	13: 23,856,500	G269D	probably damaging	Het
Slc35a5	T	C	16: 45,151,557	T115A	probably benign	Het
Slc5a12	T	G	2: 110,610,138	N157K	possibly damaging	Het
Sphkap	A	G	1: 83,257,203	V1634A	probably damaging	Het
Spta1	T	C	1: 174,247,353	S2382P	probably damaging	Het
Synj2	C	A	17: 6,033,919	S1100R	probably benign	Het
Tcf23	A	G	5: 30,973,557	T180A	probably benign	Het
Tnxb	T	C	17: 34,710,830	V2846A	probably damaging	Het
Tpr	T	A	1: 150,418,000	I915K	probably damaging	Het
Uba1y	C	T	Y: 828,862	H557Y	probably benign	Het
Unc45b	T	A	11: 82,936,874	D730E	probably benign	Het
Unc5b	A	T	10: 60,769,232	L734Q	probably damaging	Het
Vmn1r167	G	T	7: 23,504,779	H271N	probably benign	Het
Vmn2r76	A	G	7: 86,230,246	V282A	probably benign	Het
Xirp2	A	G	2: 67,513,939	K2175E	probably benign	Het

Other mutations in Fras1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00332:Fras1	APN	5	96739358	missense	possibly damaging	0.55
IGL00507:Fras1	APN	5	96778189	missense	probably damaging	1.00
IGL00672:Fras1	APN	5	96759450	splice site	probably benign
IGL00772:Fras1	APN	5	96636112	missense	probably benign	0.42
IGL00844:Fras1	APN	5	96534853	splice site	probably benign
IGL00913:Fras1	APN	5	96695076	missense	probably damaging	0.99
IGL00959:Fras1	APN	5	96781281	missense	probably damaging	0.96
IGL00966:Fras1	APN	5	96555221	missense	probably benign	0.00
IGL01296:Fras1	APN	5	96673698	missense	probably null	0.58
IGL01307:Fras1	APN	5	96781692	missense	probably benign
IGL01481:Fras1	APN	5	96657241	missense	probably damaging	1.00
IGL01525:Fras1	APN	5	96739336	missense	probably damaging	0.99
IGL01599:Fras1	APN	5	96709891	missense	possibly damaging	0.94
IGL01646:Fras1	APN	5	96758148	missense	probably benign	0.29
IGL01795:Fras1	APN	5	96778045	missense	probably damaging	1.00
IGL01867:Fras1	APN	5	96588131	missense	probably benign
IGL01869:Fras1	APN	5	96708783	splice site	probably benign
IGL01923:Fras1	APN	5	96735280	missense	probably damaging	1.00
IGL01982:Fras1	APN	5	96739248	missense	possibly damaging	0.46
IGL02109:Fras1	APN	5	96700523	missense	probably benign
IGL02132:Fras1	APN	5	96781637	nonsense	probably null
IGL02171:Fras1	APN	5	96735181	missense	probably benign	0.15
IGL02213:Fras1	APN	5	96645871	nonsense	probably null
IGL02277:Fras1	APN	5	96588118	missense	probably benign	0.00
IGL02507:Fras1	APN	5	96657408	missense	possibly damaging	0.95
IGL02589:Fras1	APN	5	96769513	missense	probably damaging	1.00
IGL02671:Fras1	APN	5	96728616	missense	possibly damaging	0.91
IGL02677:Fras1	APN	5	96545024	missense	probably damaging	1.00
IGL02691:Fras1	APN	5	96744705	missense	possibly damaging	0.68
IGL02741:Fras1	APN	5	96691371	missense	probably benign	0.35
IGL02836:Fras1	APN	5	96534866	missense	possibly damaging	0.67
IGL02850:Fras1	APN	5	96778175	missense	probably damaging	1.00
IGL02998:Fras1	APN	5	96702181	missense	possibly damaging	0.82
IGL03040:Fras1	APN	5	96710101	missense	probably benign
IGL03078:Fras1	APN	5	96636135	missense	probably damaging	1.00
IGL03096:Fras1	APN	5	96764901	missense	probably damaging	1.00
IGL03102:Fras1	APN	5	96726535	missense	probably benign	0.11
IGL03183:Fras1	APN	5	96733781	splice site	probably benign
IGL03189:Fras1	APN	5	96743071	missense	probably benign	0.00
IGL03193:Fras1	APN	5	96778106	missense	probably damaging	0.99
IGL03292:Fras1	APN	5	96707491	missense	probably damaging	1.00
IGL03328:Fras1	APN	5	96781760	missense	probably damaging	0.96
IGL03335:Fras1	APN	5	96733944	splice site	probably benign
IGL03394:Fras1	APN	5	96667477	missense	probably damaging	0.98
IGL03404:Fras1	APN	5	96728581	missense	probably damaging	0.99
baby_ruth	UTSW	5	96708758	missense	probably benign	0.01
BB002:Fras1	UTSW	5	96781584	missense	probably damaging	0.96
BB012:Fras1	UTSW	5	96781584	missense	probably damaging	0.96
G1patch:Fras1	UTSW	5	96781340	missense	possibly damaging	0.91
I0000:Fras1	UTSW	5	96740829	missense	probably damaging	0.99
PIT4581001:Fras1	UTSW	5	96555301	missense	probably benign	0.01
R0028:Fras1	UTSW	5	96677316	missense	probably benign	0.07
R0049:Fras1	UTSW	5	96776622	missense	probably benign	0.07
R0049:Fras1	UTSW	5	96776622	missense	probably benign	0.07
R0099:Fras1	UTSW	5	96614917	critical splice donor site	probably null
R0109:Fras1	UTSW	5	96710077	missense	probably benign	0.01
R0158:Fras1	UTSW	5	96776634	missense	possibly damaging	0.83
R0268:Fras1	UTSW	5	96737009	missense	probably damaging	0.99
R0305:Fras1	UTSW	5	96596888	missense	probably benign
R0352:Fras1	UTSW	5	96726540	missense	probably damaging	0.97
R0359:Fras1	UTSW	5	96762590	missense	probably damaging	0.98
R0371:Fras1	UTSW	5	96555331	missense	possibly damaging	0.90
R0379:Fras1	UTSW	5	96755509	nonsense	probably null
R0395:Fras1	UTSW	5	96769653	missense	possibly damaging	0.50
R0417:Fras1	UTSW	5	96691372	missense	probably benign	0.18
R0454:Fras1	UTSW	5	96762665	missense	probably damaging	0.96
R0456:Fras1	UTSW	5	96554788	missense	probably damaging	1.00
R0456:Fras1	UTSW	5	96714343	splice site	probably null
R0464:Fras1	UTSW	5	96636803	missense	probably damaging	0.98
R0613:Fras1	UTSW	5	96700488	splice site	probably benign
R0652:Fras1	UTSW	5	96781340	missense	possibly damaging	0.91
R0675:Fras1	UTSW	5	96667387	splice site	probably benign
R0765:Fras1	UTSW	5	96552796	missense	probably benign	0.00
R0783:Fras1	UTSW	5	96768430	missense	probably damaging	1.00
R0811:Fras1	UTSW	5	96752998	missense	probably benign	0.35
R0812:Fras1	UTSW	5	96752998	missense	probably benign	0.35
R0943:Fras1	UTSW	5	96726543	missense	probably benign	0.00
R1037:Fras1	UTSW	5	96714463	missense	probably damaging	0.97
R1104:Fras1	UTSW	5	96708671	missense	probably benign	0.00
R1108:Fras1	UTSW	5	96642629	missense	probably damaging	0.99
R1332:Fras1	UTSW	5	96707308	missense	probably benign	0.00
R1336:Fras1	UTSW	5	96707308	missense	probably benign	0.00
R1458:Fras1	UTSW	5	96600733	missense	probably benign	0.00
R1495:Fras1	UTSW	5	96528586	missense	possibly damaging	0.49
R1499:Fras1	UTSW	5	96743187	missense	probably benign	0.31
R1528:Fras1	UTSW	5	96636819	missense	probably damaging	0.99
R1556:Fras1	UTSW	5	96743062	missense	possibly damaging	0.88
R1625:Fras1	UTSW	5	96709978	missense	possibly damaging	0.94
R1625:Fras1	UTSW	5	96713990	missense	probably damaging	1.00
R1645:Fras1	UTSW	5	96700586	missense	possibly damaging	0.90
R1647:Fras1	UTSW	5	96726613	critical splice donor site	probably null
R1648:Fras1	UTSW	5	96726613	critical splice donor site	probably null
R1661:Fras1	UTSW	5	96598909	missense	probably damaging	1.00
R1665:Fras1	UTSW	5	96598909	missense	probably damaging	1.00
R1682:Fras1	UTSW	5	96645873	missense	probably benign	0.00
R1701:Fras1	UTSW	5	96600784	missense	probably benign	0.00
R1716:Fras1	UTSW	5	96552725	missense	probably benign	0.10
R1718:Fras1	UTSW	5	96554889	splice site	probably null
R1800:Fras1	UTSW	5	96709882	missense	probably benign
R1806:Fras1	UTSW	5	96713970	splice site	probably benign
R1806:Fras1	UTSW	5	96764976	missense	possibly damaging	0.88
R1822:Fras1	UTSW	5	96770688	missense	probably damaging	1.00
R1823:Fras1	UTSW	5	96770688	missense	probably damaging	1.00
R1824:Fras1	UTSW	5	96770688	missense	probably damaging	1.00
R1847:Fras1	UTSW	5	96749423	splice site	probably null
R1929:Fras1	UTSW	5	96667437	missense	probably benign	0.24
R1951:Fras1	UTSW	5	96712383	missense	probably benign	0.38
R2093:Fras1	UTSW	5	96781203	missense	probably damaging	1.00
R2283:Fras1	UTSW	5	96654305	missense	probably benign	0.10
R2884:Fras1	UTSW	5	96700268	missense	probably benign	0.07
R2913:Fras1	UTSW	5	96733915	missense	probably benign
R2914:Fras1	UTSW	5	96733915	missense	probably benign
R3054:Fras1	UTSW	5	96764943	missense	probably damaging	0.99
R3117:Fras1	UTSW	5	96771712	missense	probably damaging	1.00
R3118:Fras1	UTSW	5	96771712	missense	probably damaging	1.00
R3691:Fras1	UTSW	5	96781512	missense	probably benign	0.02
R3714:Fras1	UTSW	5	96645970	critical splice donor site	probably null
R3715:Fras1	UTSW	5	96645970	critical splice donor site	probably null
R3801:Fras1	UTSW	5	96733932	missense	probably benign	0.26
R3961:Fras1	UTSW	5	96677385	critical splice donor site	probably null
R4065:Fras1	UTSW	5	96770683	missense	possibly damaging	0.64
R4066:Fras1	UTSW	5	96770683	missense	possibly damaging	0.64
R4076:Fras1	UTSW	5	96743158	missense	probably damaging	1.00
R4124:Fras1	UTSW	5	96770653	missense	probably benign	0.05
R4127:Fras1	UTSW	5	96770653	missense	probably benign	0.05
R4153:Fras1	UTSW	5	96776735	missense	probably benign	0.17
R4233:Fras1	UTSW	5	96714376	missense	possibly damaging	0.91
R4273:Fras1	UTSW	5	96614904	missense	probably benign	0.00
R4355:Fras1	UTSW	5	96700242	missense	probably benign
R4401:Fras1	UTSW	5	96642620	missense	probably damaging	0.97
R4402:Fras1	UTSW	5	96642620	missense	probably damaging	0.97
R4403:Fras1	UTSW	5	96642620	missense	probably damaging	0.97
R4505:Fras1	UTSW	5	96781348	missense	probably damaging	1.00
R4548:Fras1	UTSW	5	96709895	missense	probably benign	0.00
R4559:Fras1	UTSW	5	96781289	missense	probably damaging	1.00
R4629:Fras1	UTSW	5	96776734	missense	probably benign	0.00
R4637:Fras1	UTSW	5	96778088	missense	probably damaging	1.00
R4678:Fras1	UTSW	5	96700568	missense	probably benign	0.13
R4707:Fras1	UTSW	5	96735238	missense	probably damaging	0.96
R4735:Fras1	UTSW	5	96588163	missense	probably benign	0.00
R4756:Fras1	UTSW	5	96781659	missense	probably benign	0.00
R4762:Fras1	UTSW	5	96731618	missense	probably benign
R4820:Fras1	UTSW	5	96728653	missense	probably benign	0.00
R4847:Fras1	UTSW	5	96544992	missense	possibly damaging	0.94
R4857:Fras1	UTSW	5	96778159	missense	probably benign	0.00
R4909:Fras1	UTSW	5	96708758	missense	probably benign	0.01
R4931:Fras1	UTSW	5	96636840	missense	probably benign	0.02
R4938:Fras1	UTSW	5	96776724	missense	probably damaging	0.99
R4952:Fras1	UTSW	5	96647498	missense	probably benign	0.01
R4965:Fras1	UTSW	5	96726580	missense	possibly damaging	0.95
R4989:Fras1	UTSW	5	96650682	missense	possibly damaging	0.75
R5151:Fras1	UTSW	5	96645110	missense	probably damaging	1.00
R5168:Fras1	UTSW	5	96708757	missense	probably benign	0.00
R5182:Fras1	UTSW	5	96636173	nonsense	probably null
R5214:Fras1	UTSW	5	96769593	missense	probably damaging	1.00
R5220:Fras1	UTSW	5	96768363	missense	probably damaging	1.00
R5235:Fras1	UTSW	5	96600750	missense	probably benign	0.02
R5242:Fras1	UTSW	5	96657250	missense	probably benign	0.11
R5253:Fras1	UTSW	5	96741025	missense	probably damaging	0.99
R5260:Fras1	UTSW	5	96735187	missense	possibly damaging	0.79
R5301:Fras1	UTSW	5	96657266	missense	possibly damaging	0.88
R5411:Fras1	UTSW	5	96645160	missense	probably benign	0.00
R5467:Fras1	UTSW	5	96780053	missense	probably benign	0.04
R5543:Fras1	UTSW	5	96528535	missense	probably benign	0.01
R5555:Fras1	UTSW	5	96677377	missense	probably benign	0.34
R5602:Fras1	UTSW	5	96737021	missense	probably damaging	1.00
R5664:Fras1	UTSW	5	96728535	missense	possibly damaging	0.91
R5695:Fras1	UTSW	5	96781344	missense	probably damaging	1.00
R5717:Fras1	UTSW	5	96781737	missense	possibly damaging	0.93
R5742:Fras1	UTSW	5	96768381	missense	possibly damaging	0.50
R5759:Fras1	UTSW	5	96709916	missense	probably benign	0.02
R5766:Fras1	UTSW	5	96731689	missense	possibly damaging	0.91
R5890:Fras1	UTSW	5	96645948	missense	probably benign
R6052:Fras1	UTSW	5	96764866	missense	probably damaging	1.00
R6058:Fras1	UTSW	5	96709985	missense	probably benign
R6256:Fras1	UTSW	5	96733843	missense	possibly damaging	0.84
R6306:Fras1	UTSW	5	96764946	missense	probably damaging	1.00
R6494:Fras1	UTSW	5	96759564	missense	possibly damaging	0.59
R6638:Fras1	UTSW	5	96758094	missense	possibly damaging	0.94
R6647:Fras1	UTSW	5	96735202	missense	probably damaging	1.00
R6725:Fras1	UTSW	5	96781340	missense	possibly damaging	0.91
R6769:Fras1	UTSW	5	96598941	missense	possibly damaging	0.60
R6771:Fras1	UTSW	5	96598941	missense	possibly damaging	0.60
R6837:Fras1	UTSW	5	96726973	missense	probably damaging	0.99
R6841:Fras1	UTSW	5	96728551	missense	probably damaging	0.99
R6863:Fras1	UTSW	5	96543306	missense	probably benign	0.19
R6868:Fras1	UTSW	5	96682378	missense	probably benign	0.38
R6936:Fras1	UTSW	5	96768352	missense	possibly damaging	0.92
R6997:Fras1	UTSW	5	96614873	nonsense	probably null
R7023:Fras1	UTSW	5	96710084	missense	probably benign	0.00
R7091:Fras1	UTSW	5	96708676	missense	probably benign
R7102:Fras1	UTSW	5	96571041	missense	probably benign
R7120:Fras1	UTSW	5	96752960	nonsense	probably null
R7124:Fras1	UTSW	5	96714401	missense	probably damaging	1.00
R7129:Fras1	UTSW	5	96781284	missense	probably benign	0.00
R7173:Fras1	UTSW	5	96778078	missense	probably damaging	1.00
R7174:Fras1	UTSW	5	96755577	critical splice donor site	probably null
R7185:Fras1	UTSW	5	96636776	missense	probably damaging	1.00
R7191:Fras1	UTSW	5	96614912	missense	probably benign	0.05
R7216:Fras1	UTSW	5	96739314	missense	probably damaging	1.00
R7222:Fras1	UTSW	5	96636186	missense	probably damaging	1.00
R7222:Fras1	UTSW	5	96636809	missense	probably benign	0.00
R7320:Fras1	UTSW	5	96709886	missense	probably benign	0.03
R7335:Fras1	UTSW	5	96736970	missense	possibly damaging	0.82
R7378:Fras1	UTSW	5	96596785	missense	probably damaging	0.98
R7394:Fras1	UTSW	5	96712450	nonsense	probably null
R7412:Fras1	UTSW	5	96614889	missense	probably benign	0.06
R7422:Fras1	UTSW	5	96673599	missense	probably benign	0.21
R7552:Fras1	UTSW	5	96768438	missense	probably damaging	1.00
R7559:Fras1	UTSW	5	96740854	missense	possibly damaging	0.82
R7575:Fras1	UTSW	5	96543314	missense	probably benign	0.02
R7578:Fras1	UTSW	5	96684437	missense	probably damaging	1.00
R7600:Fras1	UTSW	5	96684436	missense	probably damaging	1.00
R7669:Fras1	UTSW	5	96692624	missense	probably benign	0.01
R7710:Fras1	UTSW	5	96645103	nonsense	probably null
R7722:Fras1	UTSW	5	96769554	missense	probably damaging	1.00
R7726:Fras1	UTSW	5	96712451	missense	probably benign	0.41
R7745:Fras1	UTSW	5	96726895	missense	probably benign	0.11
R7777:Fras1	UTSW	5	96752904	missense	probably damaging	1.00
R7923:Fras1	UTSW	5	96739318	missense	probably damaging	1.00
R7925:Fras1	UTSW	5	96781584	missense	probably damaging	0.96
R8000:Fras1	UTSW	5	96762677	missense	probably damaging	0.96
R8056:Fras1	UTSW	5	96744774	missense	probably damaging	1.00
R8058:Fras1	UTSW	5	96694919	missense	probably benign
R8117:Fras1	UTSW	5	96707386	missense	probably damaging	1.00
R8157:Fras1	UTSW	5	96554855	missense	probably benign	0.00
R8312:Fras1	UTSW	5	96588191	missense	probably benign
R8315:Fras1	UTSW	5	96743182	missense	probably damaging	0.97
R8412:Fras1	UTSW	5	96596852	missense	probably benign	0.00
R8546:Fras1	UTSW	5	96709966	missense	probably benign	0.00
R8705:Fras1	UTSW	5	96691401	missense	probably benign	0.01
R8790:Fras1	UTSW	5	96755377	missense	probably damaging	1.00
R8848:Fras1	UTSW	5	96781348	missense	probably damaging	1.00
R8855:Fras1	UTSW	5	96769606	missense
R8871:Fras1	UTSW	5	96707398	missense	probably benign	0.34
R8894:Fras1	UTSW	5	96759543	missense	probably damaging	1.00
R8904:Fras1	UTSW	5	96781279	missense	probably benign	0.16
R8910:Fras1	UTSW	5	96567996	missense	probably benign	0.01
R8916:Fras1	UTSW	5	96752915	missense	probably damaging	1.00
R8929:Fras1	UTSW	5	96769507	missense	probably damaging	0.98
R8995:Fras1	UTSW	5	96712556	missense	possibly damaging	0.83
R9016:Fras1	UTSW	5	96636064	missense	probably damaging	0.96
R9021:Fras1	UTSW	5	96740750	missense	probably damaging	1.00
R9038:Fras1	UTSW	5	96726883	missense	probably benign	0.25
R9204:Fras1	UTSW	5	96735163	missense	probably damaging	1.00
R9222:Fras1	UTSW	5	96657228	missense	probably benign	0.15
R9231:Fras1	UTSW	5	96545045	missense	probably damaging	1.00
R9238:Fras1	UTSW	5	96684361	missense	possibly damaging	0.90
R9257:Fras1	UTSW	5	96762500	missense	probably damaging	1.00
R9302:Fras1	UTSW	5	96534892	missense	probably damaging	1.00
R9329:Fras1	UTSW	5	96736954	missense	probably damaging	1.00
R9361:Fras1	UTSW	5	96776698	missense	probably damaging	1.00
R9430:Fras1	UTSW	5	96781392	missense	probably benign	0.00
R9431:Fras1	UTSW	5	96753014	missense	possibly damaging	0.71
R9474:Fras1	UTSW	5	96739265	missense	probably benign	0.00
R9475:Fras1	UTSW	5	96780070	missense	probably damaging	0.96
R9497:Fras1	UTSW	5	96737036	missense	probably damaging	1.00
R9597:Fras1	UTSW	5	96740692	missense	probably damaging	1.00
R9650:Fras1	UTSW	5	96762528	missense	probably damaging	1.00
R9694:Fras1	UTSW	5	96781686	missense	probably benign	0.03
R9779:Fras1	UTSW	5	96569494	missense	probably damaging	0.99
Z1088:Fras1	UTSW	5	96743211	missense	probably damaging	0.97
Z1088:Fras1	UTSW	5	96758142	missense	probably benign
Z1176:Fras1	UTSW	5	96758142	missense	probably benign
Z1177:Fras1	UTSW	5	96691457	missense	probably damaging	1.00
Z1177:Fras1	UTSW	5	96700251	missense	possibly damaging	0.71
Z1177:Fras1	UTSW	5	96740811	missense	probably benign	0.18
Z1177:Fras1	UTSW	5	96740983	missense	possibly damaging	0.95
Z1177:Fras1	UTSW	5	96758142	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AGCTGAGCCCTACCAGAGGAAATG -3'
(R):5'- TCTTCAGTTCCAGGTTGAGTGCCC -3'

Sequencing Primer
(F):5'- CTACCAGAGGAAATGTCATGTGGAG -3'
(R):5'- CTGAGAGCTGTTCCTCAGAG -3'

Posted On

2014-04-13