Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02797:Vwa8'

360018

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 #

IGL02797

Quality Score

Status

Chromosome

Chromosomal Location

78849052-79202310 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 78925262 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 161 (C161S)

Ref Sequence

ENSEMBL: ENSMUSP00000154270 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040990] [ENSMUST00000227255]

Predicted Effect

probably benign
Transcript: ENSMUST00000040990
AA Change: C161S

PolyPhen 2 Score 0.290 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000048925
Gene: ENSMUSG00000058997
AA Change: C161S

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 benign
Transcript: ENSMUST00000227255
AA Change: C161S

PolyPhen 2 Score 0.290 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228884

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	A	G	16: 20,368,464	M924T	probably benign	Het
B3gat2	A	G	1: 23,815,279	Y218C	probably damaging	Het
Bcs1l	T	C	1: 74,590,461		probably null	Het
C77080	C	T	4: 129,223,311	R565H	probably damaging	Het
Cd109	T	A	9: 78,661,713	I358N	probably damaging	Het
Cd276	T	C	9: 58,537,436	D84G	possibly damaging	Het
Chsy1	T	C	7: 66,171,664	F549S	probably damaging	Het
Clca2	T	C	3: 145,081,263	N549S	probably benign	Het
Cma1	A	G	14: 55,943,814	S32P	possibly damaging	Het
Col23a1	G	A	11: 51,561,916		probably null	Het
Ctps	A	T	4: 120,562,824	I131K	probably benign	Het
Cyp2w1	T	C	5: 139,356,873	L441P	probably damaging	Het
Dnajc21	A	G	15: 10,461,355	Y170H	probably damaging	Het
Eif3a	A	T	19: 60,772,726	L648Q	probably damaging	Het
Eif3l	T	A	15: 79,075,277	D6E	probably benign	Het
Fam228a	A	T	12: 4,731,484	L125Q	probably damaging	Het
Foxa2	A	G	2: 148,044,125	C263R	possibly damaging	Het
Gm17455	A	G	10: 60,403,328	E124G	possibly damaging	Het
Gm8882	T	A	6: 132,363,045		probably null	Het
Gpc6	T	G	14: 116,925,982	L16R	probably damaging	Het
Hdac9	A	G	12: 34,393,274		probably benign	Het
Herc3	A	G	6: 58,868,694	N400S	probably benign	Het
Herc4	G	A	10: 63,316,807		probably null	Het
Il12b	A	G	11: 44,410,353		probably null	Het
Lama4	A	G	10: 39,056,924	R599G	probably null	Het
Lrp1b	T	A	2: 41,671,057	E286V		Het
Mink1	C	T	11: 70,610,350	P784S	probably damaging	Het
Musk	T	C	4: 58,366,921	F513S	probably benign	Het
Nfasc	T	A	1: 132,610,448	D474V	probably damaging	Het
Nos2	T	G	11: 78,940,344	F420V	probably damaging	Het
Olfr597	A	T	7: 103,320,851	I147L	probably benign	Het
Pcdhb14	A	G	18: 37,449,851	Y670C	probably damaging	Het
Polr1b	A	G	2: 129,102,979	E65G	probably damaging	Het
Ppp1r10	T	G	17: 35,928,012		probably null	Het
Prag1	C	T	8: 36,139,501	R799C	probably damaging	Het
Ptch1	T	C	13: 63,533,607	N485S	probably benign	Het
Rgsl1	T	C	1: 153,807,708	T19A	probably damaging	Het
Sgpl1	A	C	10: 61,101,728	S507A	probably benign	Het
Sgpp2	A	G	1: 78,417,182	D274G	probably benign	Het
Skap1	A	G	11: 96,713,017	D211G	possibly damaging	Het
Smc3	A	G	19: 53,638,758	T830A	probably benign	Het
Smpd2	G	A	10: 41,488,078	T215I	possibly damaging	Het
Sntg2	T	G	12: 30,226,892	Y387S	possibly damaging	Het
Sorl1	T	G	9: 42,037,059	D810A	probably damaging	Het
Spata5	A	G	3: 37,458,316		probably benign	Het
Spop	T	A	11: 95,482,083	I217N	probably damaging	Het
Stac2	T	C	11: 98,043,519	R120G	possibly damaging	Het
Stau1	A	T	2: 166,949,346	*496R	probably null	Het
Tmeff2	C	T	1: 50,928,047	R34C	probably damaging	Het
Treml2	C	T	17: 48,302,711	A57V	possibly damaging	Het
Vmn2r15	T	C	5: 109,297,384	D58G	probably benign	Het
Vmn2r7	T	C	3: 64,691,245	I721M	possibly damaging	Het
Vmn2r70	C	A	7: 85,559,087	M727I	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
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
IGL03376:Vwa8	APN	14	79183134	splice site	probably null
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
R7775:Vwa8	UTSW	14	79038147	missense	probably benign	0.03
R7778:Vwa8	UTSW	14	79038147	missense	probably benign	0.03
R7824:Vwa8	UTSW	14	79038147	missense	probably benign	0.03
Z1088:Vwa8	UTSW	14	78982246	missense	probably benign	0.38

Posted On

2015-12-18