Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03376:Vwa8'

420505

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Vwa8

Ensembl Gene

ENSMUSG00000058997

Gene Name

von Willebrand factor A domain containing 8

Synonyms

4932416F07Rik, 1300010F03Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03376

Quality Score

Status

Chromosome

Chromosomal Location

78849052-79202310 bp(+) (GRCm38)

Type of Mutation

splice site (3 bp from exon)

DNA Base Change (assembly)

A to G at 79183134 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000048925 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040990] [ENSMUST00000040990]

Predicted Effect

probably null
Transcript: ENSMUST00000040990

SMART Domains

Protein: ENSMUSP00000048925
Gene: ENSMUSG00000058997

Domain	Start	End	E-Value	Type
low complexity region	5	15	N/A	INTRINSIC
low complexity region	20	33	N/A	INTRINSIC
Pfam:AAA_5	104	260	6.3e-44	PFAM
AAA	438	613	4.69e-2	SMART
AAA	772	904	1.26e-1	SMART
low complexity region	1213	1221	N/A	INTRINSIC
low complexity region	1565	1586	N/A	INTRINSIC
VWA	1712	1901	2.71e-10	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000040990

SMART Domains

Protein: ENSMUSP00000048925
Gene: ENSMUSG00000058997

Domain	Start	End	E-Value	Type
low complexity region	5	15	N/A	INTRINSIC
low complexity region	20	33	N/A	INTRINSIC
Pfam:AAA_5	104	260	6.3e-44	PFAM
AAA	438	613	4.69e-2	SMART
AAA	772	904	1.26e-1	SMART
low complexity region	1213	1221	N/A	INTRINSIC
low complexity region	1565	1586	N/A	INTRINSIC
VWA	1712	1901	2.71e-10	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228380

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228904

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp6v1b2	T	C	8: 69,102,159		probably benign	Het
Ccdc122	A	G	14: 77,068,912	E41G	probably damaging	Het
Cdh3	C	T	8: 106,541,404	T357I	probably benign	Het
Cfap57	T	A	4: 118,584,720	Q717L	probably damaging	Het
Cfap58	A	T	19: 48,034,725	T859S	possibly damaging	Het
Cmtr1	C	T	17: 29,691,411	R497C	probably benign	Het
Csmd2	T	C	4: 128,517,671	I2494T	probably benign	Het
Dmkn	C	T	7: 30,771,242	T385I	possibly damaging	Het
Eml3	A	G	19: 8,933,790	D260G	probably damaging	Het
Gbf1	T	C	19: 46,262,521	F493L	possibly damaging	Het
Gjb5	C	T	4: 127,356,255	R32H	probably damaging	Het
Hpx	C	T	7: 105,592,251		probably benign	Het
Ikzf3	T	A	11: 98,488,953	H163L	probably damaging	Het
Irak3	G	A	10: 120,146,636		probably benign	Het
Itih5	G	A	2: 10,206,773	V275I	probably benign	Het
Klc1	G	T	12: 111,775,953	E174D	probably damaging	Het
Ly6g6e	A	G	17: 35,078,232	*108W	probably null	Het
Mcph1	T	C	8: 18,596,973	S31P	probably damaging	Het
Mettl4	A	T	17: 94,735,371	S346T	probably damaging	Het
Myo3a	A	T	2: 22,600,074		probably benign	Het
Olfr703	T	A	7: 106,845,470	N286K	probably damaging	Het
Otol1	A	G	3: 70,027,512	E279G	probably damaging	Het
Pappa	T	A	4: 65,196,834	N722K	probably benign	Het
Pramel7	A	G	2: 87,489,603	S449P	probably damaging	Het
Rassf9	A	G	10: 102,545,198	N145S	probably damaging	Het
Robo2	T	C	16: 73,956,492	I158M	probably damaging	Het
Sbf1	A	G	15: 89,289,016		probably benign	Het
Slc30a8	C	T	15: 52,306,457	R27*	probably null	Het
Tmco2	T	A	4: 121,109,052	T36S	probably benign	Het
Tns4	T	C	11: 99,078,556	S360G	probably benign	Het
Wwc1	C	T	11: 35,852,294	R900Q	possibly damaging	Het
Zzef1	T	C	11: 72,876,551		probably benign	Het

Other mutations in Vwa8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00589:Vwa8	APN	14	79038195	missense	probably damaging	1.00
IGL01087:Vwa8	APN	14	78935229	missense	probably benign	0.16
IGL01137:Vwa8	APN	14	79103647	missense	probably damaging	1.00
IGL01359:Vwa8	APN	14	79064913	nonsense	probably null
IGL01449:Vwa8	APN	14	79182988	nonsense	probably null
IGL01604:Vwa8	APN	14	79180804	missense	possibly damaging	0.82
IGL01636:Vwa8	APN	14	79198354	missense	possibly damaging	0.68
IGL01815:Vwa8	APN	14	79198277	missense	possibly damaging	0.92
IGL02024:Vwa8	APN	14	79094284	missense	possibly damaging	0.91
IGL02033:Vwa8	APN	14	78984209	missense	possibly damaging	0.89
IGL02154:Vwa8	APN	14	78849293	missense	possibly damaging	0.53
IGL02286:Vwa8	APN	14	78947273	critical splice donor site	probably null
IGL02393:Vwa8	APN	14	79182977	missense	probably damaging	1.00
IGL02430:Vwa8	APN	14	78934645	critical splice donor site	probably null
IGL02476:Vwa8	APN	14	78925341	missense	possibly damaging	0.62
IGL02612:Vwa8	APN	14	79183112	missense	probably benign	0.01
IGL02678:Vwa8	APN	14	78984200	missense	probably damaging	0.99
IGL02797:Vwa8	APN	14	78925262	missense	probably benign	0.29
IGL02806:Vwa8	APN	14	79157088	missense	probably benign	0.35
IGL02811:Vwa8	APN	14	78994459	missense	probably benign	0.21
IGL02892:Vwa8	APN	14	79103700	splice site	probably benign
IGL03024:Vwa8	APN	14	78995098	missense	probably benign	0.03
IGL03075:Vwa8	APN	14	78933756	missense	probably damaging	0.99
IGL03090:Vwa8	APN	14	78934601	missense	possibly damaging	0.92
IGL03124:Vwa8	APN	14	79058815	splice site	probably benign
IGL03181:Vwa8	APN	14	79009250	missense	probably benign	0.01
IGL03296:Vwa8	APN	14	79183100	missense	probably damaging	0.98
R6812_Vwa8_870	UTSW	14	79197419	missense	probably damaging	0.99
IGL03052:Vwa8	UTSW	14	79064921	missense	probably benign	0.02
PIT4468001:Vwa8	UTSW	14	79183061	missense	probably damaging	1.00
R0049:Vwa8	UTSW	14	79093739	missense	probably benign	0.21
R0063:Vwa8	UTSW	14	79164216	splice site	probably benign
R0063:Vwa8	UTSW	14	79164216	splice site	probably benign
R0081:Vwa8	UTSW	14	79082782	missense	probably benign	0.02
R0305:Vwa8	UTSW	14	79009273	missense	probably damaging	1.00
R0433:Vwa8	UTSW	14	79062676	missense	probably damaging	1.00
R0514:Vwa8	UTSW	14	78947189	missense	probably benign
R0602:Vwa8	UTSW	14	79020620	missense	probably benign	0.00
R0615:Vwa8	UTSW	14	78908150	missense	probably benign
R0791:Vwa8	UTSW	14	78994576	splice site	probably benign
R1028:Vwa8	UTSW	14	78908230	missense	probably damaging	1.00
R1037:Vwa8	UTSW	14	79086654	nonsense	probably null
R1404:Vwa8	UTSW	14	79026031	missense	probably damaging	1.00
R1404:Vwa8	UTSW	14	79026031	missense	probably damaging	1.00
R1412:Vwa8	UTSW	14	78908230	missense	probably damaging	1.00
R1421:Vwa8	UTSW	14	78908230	missense	probably damaging	1.00
R1467:Vwa8	UTSW	14	79103694	nonsense	probably null
R1467:Vwa8	UTSW	14	79103694	nonsense	probably null
R1539:Vwa8	UTSW	14	79062562	missense	probably benign	0.00
R1556:Vwa8	UTSW	14	79086681	missense	probably benign
R1589:Vwa8	UTSW	14	78908230	missense	probably damaging	1.00
R1590:Vwa8	UTSW	14	78908230	missense	probably damaging	1.00
R1591:Vwa8	UTSW	14	78908230	missense	probably damaging	1.00
R1645:Vwa8	UTSW	14	79182987	missense	probably damaging	1.00
R1673:Vwa8	UTSW	14	78908230	missense	probably damaging	1.00
R1688:Vwa8	UTSW	14	79201103	missense	possibly damaging	0.72
R1764:Vwa8	UTSW	14	78908195	missense	probably damaging	1.00
R1830:Vwa8	UTSW	14	79081136	missense	probably benign	0.04
R1926:Vwa8	UTSW	14	79020635	missense	probably benign	0.00
R1959:Vwa8	UTSW	14	78982360	missense	possibly damaging	0.95
R1971:Vwa8	UTSW	14	78925254	splice site	probably benign
R2078:Vwa8	UTSW	14	78908157	missense	probably damaging	1.00
R2103:Vwa8	UTSW	14	78908230	missense	probably damaging	1.00
R2230:Vwa8	UTSW	14	79092403	critical splice donor site	probably null
R2281:Vwa8	UTSW	14	79064996	missense	possibly damaging	0.91
R2313:Vwa8	UTSW	14	78912218	missense	probably damaging	0.98
R2847:Vwa8	UTSW	14	78947142	missense	probably benign	0.00
R2848:Vwa8	UTSW	14	78947142	missense	probably benign	0.00
R2894:Vwa8	UTSW	14	79038138	missense	probably damaging	1.00
R2991:Vwa8	UTSW	14	78995149	missense	probably benign	0.00
R3077:Vwa8	UTSW	14	79098342	missense	probably benign	0.03
R3405:Vwa8	UTSW	14	79164220	splice site	probably benign
R3406:Vwa8	UTSW	14	79164220	splice site	probably benign
R3708:Vwa8	UTSW	14	79062696	splice site	probably benign
R3779:Vwa8	UTSW	14	79102322	splice site	probably benign
R3799:Vwa8	UTSW	14	79064896	missense	probably damaging	0.99
R4230:Vwa8	UTSW	14	79082852	missense	probably benign	0.00
R4425:Vwa8	UTSW	14	79082806	missense	probably benign	0.00
R4478:Vwa8	UTSW	14	78868801	missense	probably benign	0.00
R4627:Vwa8	UTSW	14	79103697	critical splice donor site	probably null
R4835:Vwa8	UTSW	14	78934613	missense	probably benign	0.11
R4868:Vwa8	UTSW	14	79183082	missense	probably damaging	1.00
R4988:Vwa8	UTSW	14	79198283	missense	probably benign	0.05
R5137:Vwa8	UTSW	14	79064902	missense	probably damaging	1.00
R5156:Vwa8	UTSW	14	78984226	missense	probably benign	0.00
R5658:Vwa8	UTSW	14	78982398	critical splice donor site	probably null
R5841:Vwa8	UTSW	14	78994518	missense	probably benign
R6057:Vwa8	UTSW	14	79082873	missense	probably benign	0.21
R6244:Vwa8	UTSW	14	79086662	missense	probably benign
R6264:Vwa8	UTSW	14	79086812	missense	possibly damaging	0.64
R6290:Vwa8	UTSW	14	79094332	splice site	probably null
R6332:Vwa8	UTSW	14	79197464	missense	probably benign
R6395:Vwa8	UTSW	14	79093744	missense	probably benign	0.02
R6472:Vwa8	UTSW	14	79009170	missense	possibly damaging	0.71
R6497:Vwa8	UTSW	14	79096401	missense	probably benign	0.00
R6527:Vwa8	UTSW	14	78947213	missense	possibly damaging	0.73
R6552:Vwa8	UTSW	14	79198222	missense	possibly damaging	0.80
R6812:Vwa8	UTSW	14	79197419	missense	probably damaging	0.99
R6994:Vwa8	UTSW	14	78908156	missense	possibly damaging	0.90
R7040:Vwa8	UTSW	14	78912205	missense	probably damaging	1.00
R7357:Vwa8	UTSW	14	79038201	missense	probably null	1.00
R7363:Vwa8	UTSW	14	79018707	missense	probably benign	0.05
R7381:Vwa8	UTSW	14	79095685	missense	probably benign	0.00
R7406:Vwa8	UTSW	14	78982234	critical splice acceptor site	probably null
R7408:Vwa8	UTSW	14	78982234	critical splice acceptor site	probably null
R7409:Vwa8	UTSW	14	78982234	critical splice acceptor site	probably null
R7410:Vwa8	UTSW	14	78982234	critical splice acceptor site	probably null
R7483:Vwa8	UTSW	14	78982234	critical splice acceptor site	probably null
R7484:Vwa8	UTSW	14	78982234	critical splice acceptor site	probably null
R7491:Vwa8	UTSW	14	79082814	missense	probably benign	0.24
R7500:Vwa8	UTSW	14	78925246	intron	probably null
R7514:Vwa8	UTSW	14	78982234	critical splice acceptor site	probably null
R7582:Vwa8	UTSW	14	78982234	critical splice acceptor site	probably null
R7584:Vwa8	UTSW	14	78982234	critical splice acceptor site	probably null
R7585:Vwa8	UTSW	14	78982234	critical splice acceptor site	probably null
R7647:Vwa8	UTSW	14	78935229	missense	probably damaging	0.99
R7685:Vwa8	UTSW	14	79098300	missense	probably benign
R7703:Vwa8	UTSW	14	79026073	missense	probably damaging	1.00
R7730:Vwa8	UTSW	14	78995149	missense	probably benign	0.00
Z1088:Vwa8	UTSW	14	78982246	missense	probably benign	0.38

Posted On

2016-08-02