Mutagenetix > Incidental Mutations

Incidental Mutation 'R1903:Vwa5b2'

209996

Institutional Source

Beutler Lab

Gene Symbol

Vwa5b2

Ensembl Gene

ENSMUSG00000046613

Gene Name

von Willebrand factor A domain containing 5B2

Synonyms

EG328644

MMRRC Submission

039923-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.110) question?

Stock #

R1903 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

20589471-20605377 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 20604832 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Isoleucine at position 1165 (S1165I)

Ref Sequence

ENSEMBL: ENSMUSP00000123727 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045918] [ENSMUST00000096197] [ENSMUST00000123774] [ENSMUST00000147867] [ENSMUST00000159780] [ENSMUST00000231362] [ENSMUST00000231386] [ENSMUST00000231387] [ENSMUST00000231471] [ENSMUST00000231531] [ENSMUST00000232458] [ENSMUST00000231749] [ENSMUST00000232451] [ENSMUST00000231904] [ENSMUST00000232319]

Predicted Effect

probably benign
Transcript: ENSMUST00000045918

SMART Domains

Protein: ENSMUSP00000045272
Gene: ENSMUSG00000033809

Domain	Start	End	E-Value	Type
Pfam:ALG3	47	406	2.5e-145	PFAM
low complexity region	407	420	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000046188

Predicted Effect

possibly damaging
Transcript: ENSMUST00000096197
AA Change: S1165I

PolyPhen 2 Score 0.770 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000093911
Gene: ENSMUSG00000046613
AA Change: S1165I

Domain	Start	End	E-Value	Type
Pfam:VIT_2	2	79	7.3e-31	PFAM
VWA	352	521	3.16e-1	SMART
low complexity region	684	706	N/A	INTRINSIC
low complexity region	725	733	N/A	INTRINSIC
low complexity region	744	764	N/A	INTRINSIC
low complexity region	780	797	N/A	INTRINSIC
low complexity region	823	833	N/A	INTRINSIC
low complexity region	1032	1046	N/A	INTRINSIC
low complexity region	1127	1145	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000117019

Predicted Effect

probably benign
Transcript: ENSMUST00000123774

SMART Domains

Protein: ENSMUSP00000123378
Gene: ENSMUSG00000033809

Domain	Start	End	E-Value	Type
transmembrane domain	42	61	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000127454

SMART Domains

Protein: ENSMUSP00000120559
Gene: ENSMUSG00000033809

Domain	Start	End	E-Value	Type
transmembrane domain	25	47	N/A	INTRINSIC
Pfam:ALG3	51	118	2.1e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000147867

Predicted Effect

possibly damaging
Transcript: ENSMUST00000159780
AA Change: S1165I

PolyPhen 2 Score 0.770 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000123727
Gene: ENSMUSG00000046613
AA Change: S1165I

Domain	Start	End	E-Value	Type
Pfam:VIT_2	2	79	5.5e-31	PFAM
VWA	352	521	3.16e-1	SMART
low complexity region	684	706	N/A	INTRINSIC
low complexity region	725	733	N/A	INTRINSIC
low complexity region	744	764	N/A	INTRINSIC
low complexity region	780	797	N/A	INTRINSIC
low complexity region	823	833	N/A	INTRINSIC
low complexity region	1032	1046	N/A	INTRINSIC
low complexity region	1127	1145	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000231362

Predicted Effect

probably benign
Transcript: ENSMUST00000231386

Predicted Effect

probably benign
Transcript: ENSMUST00000231387

Predicted Effect

probably benign
Transcript: ENSMUST00000231471

Predicted Effect

probably benign
Transcript: ENSMUST00000231531

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231608

Predicted Effect

probably benign
Transcript: ENSMUST00000232458

Predicted Effect

probably benign
Transcript: ENSMUST00000231749

Predicted Effect

probably benign
Transcript: ENSMUST00000232451

Predicted Effect

probably benign
Transcript: ENSMUST00000231904

Predicted Effect

probably benign
Transcript: ENSMUST00000232319

Coding Region Coverage

1x: 97.3%
3x: 96.7%
10x: 95.0%
20x: 91.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 120 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	A	C	9: 57,258,352	S246R	possibly damaging	Het
Abca13	C	T	11: 9,466,411	R4058C	probably benign	Het
Acacb	A	T	5: 114,165,734	R73*	probably null	Het
Adam22	C	T	5: 8,134,525	C489Y	probably damaging	Het
Agap3	A	T	5: 24,493,013	K460I	probably damaging	Het
Ak4	T	C	4: 101,463,636	I214T	possibly damaging	Het
Anpep	C	T	7: 79,838,256	E518K	probably benign	Het
Arrb2	T	A	11: 70,437,982	H221Q	probably damaging	Het
Atl1	T	G	12: 69,959,275	F452V	probably damaging	Het
Atp8b5	A	G	4: 43,357,063	T604A	probably damaging	Het
BC005561	T	A	5: 104,518,330	S239R	probably benign	Het
Bglap3	T	C	3: 88,368,761	I95V	probably benign	Het
Ccdc88a	G	T	11: 29,461,788	M532I	probably benign	Het
Ccnl1	A	G	3: 65,946,911	S430P	possibly damaging	Het
Cdk5rap2	A	T	4: 70,403,554		probably null	Het
Cep126	A	T	9: 8,120,747	Y92N	possibly damaging	Het
Cfap44	A	C	16: 44,422,374	T714P	probably benign	Het
Cnga1	T	G	5: 72,616,725	D90A	possibly damaging	Het
Cnot1	T	C	8: 95,743,121	I1369V	possibly damaging	Het
Coq3	T	C	4: 21,910,466	S314P	probably damaging	Het
Crhr1	A	G	11: 104,169,849	R151G	probably damaging	Het
Crybg2	A	G	4: 134,078,856	I930V	probably damaging	Het
Ctcf	T	A	8: 105,675,988		probably null	Het
Dct	T	C	14: 118,034,278	N380S	probably benign	Het
Decr2	A	T	17: 26,087,413	L83Q	probably damaging	Het
Depdc5	CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	5: 32,910,407		probably benign	Het
Dgkb	T	C	12: 38,166,777		probably null	Het
Dnah1	T	C	14: 31,319,759	D85G	probably damaging	Het
Dnah7a	T	C	1: 53,535,478	D1709G	probably damaging	Het
Dnajc13	A	C	9: 104,228,937	L346R	probably damaging	Het
Dsc1	A	T	18: 20,095,988	V415D	probably damaging	Het
Duox2	T	A	2: 122,295,351	I296F	probably damaging	Het
Ece2	T	A	16: 20,645,172	L890H	probably damaging	Het
Ecsit	A	G	9: 22,076,519	S75P	possibly damaging	Het
Enpp3	A	G	10: 24,778,789	C664R	probably damaging	Het
Evpl	G	T	11: 116,227,028	D778E	probably damaging	Het
Eya3	T	A	4: 132,721,352		probably null	Het
Fam217b	A	T	2: 178,420,581	I113F	probably benign	Het
Galnt6	G	A	15: 100,716,118	P101S	possibly damaging	Het
Gm11487	T	A	4: 73,403,438	Y120F	probably damaging	Het
Gm281	C	T	14: 13,829,657	S695N	possibly damaging	Het
Gm379	G	A	X: 108,664,264	Q210*	probably null	Het
Grk4	A	T	5: 34,676,187		probably null	Het
Gtf3c4	A	G	2: 28,839,956	V91A	probably benign	Het
Hcfc2	G	T	10: 82,702,558	G143V	probably damaging	Het
Heatr4	A	C	12: 83,958,447	H710Q	probably damaging	Het
Htr3a	A	T	9: 48,906,381	D97E	probably damaging	Het
Htr4	T	G	18: 62,428,122	F151L	probably benign	Het
Il22ra1	A	T	4: 135,750,908	Q430L	probably damaging	Het
Invs	T	A	4: 48,402,824		probably null	Het
Ip6k1	G	A	9: 108,040,996	E77K	possibly damaging	Het
Irs1	T	C	1: 82,289,461	S345G	probably damaging	Het
Kdm4a	A	G	4: 118,160,399	V490A	probably benign	Het
Kif26a	C	T	12: 112,175,540	R743C	probably damaging	Het
Kif28	A	G	1: 179,702,523	V691A	possibly damaging	Het
Klhl5	T	A	5: 65,166,987	L696Q	probably benign	Het
Krtap5-1	T	C	7: 142,296,347		probably benign	Het
Lama2	A	C	10: 27,188,399	D1195E	probably damaging	Het
Lamb1	T	G	12: 31,329,210	L1722R	probably damaging	Het
Lrp11	T	A	10: 7,623,780	L245Q	probably damaging	Het
Ltbp2	T	C	12: 84,830,105	E422G	probably benign	Het
Man2b1	T	A	8: 85,086,822	D214E	probably damaging	Het
Mlxipl	A	T	5: 135,133,568	D628V	possibly damaging	Het
Myo18b	G	A	5: 112,692,758	R2390C	probably damaging	Het
Mypn	T	A	10: 63,123,397	R1048S	probably benign	Het
Napepld	A	G	5: 21,665,272	S383P	probably damaging	Het
Napsa	A	G	7: 44,581,736	T130A	probably damaging	Het
Nbr1	T	C	11: 101,575,152	I716T	probably damaging	Het
Nexn	A	T	3: 152,248,181	M212K	probably damaging	Het
Nlrp9b	T	A	7: 20,023,257	S140T	probably benign	Het
Nxpe2	T	C	9: 48,319,606	T488A	probably benign	Het
Olfr1051	C	T	2: 86,275,846	V214I	probably benign	Het
Olfr1420	A	T	19: 11,896,549	Y176F	probably benign	Het
Olfr1512	T	G	14: 52,372,717	Q112P	possibly damaging	Het
Olfr209	A	T	16: 59,362,163	D18E	probably benign	Het
Olfr834	A	T	9: 18,988,896	K303*	probably null	Het
Osbpl5	T	C	7: 143,703,181	D404G	possibly damaging	Het
Pan2	T	G	10: 128,308,368	L162R	probably damaging	Het
Parp1	G	T	1: 180,588,670	V545F	probably damaging	Het
Pcdh18	A	G	3: 49,755,447	V473A	probably benign	Het
Plb1	A	T	5: 32,291,238	N350I	probably damaging	Het
Polr1a	A	G	6: 71,967,914	K1318R	probably benign	Het
Ppp1r18	C	T	17: 35,873,846	P130S	probably damaging	Het
Prss48	C	T	3: 85,998,307	W86*	probably null	Het
Rab3c	A	T	13: 110,084,210	I137N	probably damaging	Het
Rab3gap2	G	C	1: 185,221,902	R57P	probably benign	Het
Rad54l2	A	C	9: 106,693,717		probably null	Het
Ralgapb	C	A	2: 158,495,563	N1147K	probably benign	Het
Rfx7	C	T	9: 72,616,811	R428C	probably damaging	Het
Robo1	A	G	16: 72,960,204	Q351R	probably null	Het
Samd4	T	C	14: 47,074,128	F81S	probably damaging	Het
Shprh	T	A	10: 11,183,797	Y1097*	probably null	Het
Sik3	C	G	9: 46,221,089	H1276Q	probably benign	Het
Slc24a4	T	A	12: 102,131,617	D79E	probably benign	Het
Slc7a13	A	T	4: 19,839,254	I286F	probably benign	Het
Smarca1	G	A	X: 47,849,963	Q723*	probably null	Het
Spata31d1b	T	C	13: 59,718,068	L1010P	probably damaging	Het
Sult2a1	T	C	7: 13,835,975	S111G	possibly damaging	Het
Tecpr2	C	T	12: 110,947,912	T1219M	probably damaging	Het
Tesk1	T	C	4: 43,446,998	M462T	probably benign	Het
Tmem171	C	A	13: 98,686,416	G292*	probably null	Het
Tmtc2	G	T	10: 105,190,108	T833N	probably benign	Het
Tnc	G	T	4: 64,000,062	T1204K	probably benign	Het
Tnfaip3	T	C	10: 19,008,189	K148E	probably benign	Het
Tnrc18	G	A	5: 142,815,140	S21F	probably damaging	Het
Tns4	T	C	11: 99,075,575	T425A	probably damaging	Het
Tox	T	A	4: 6,688,948	Y472F	probably damaging	Het
Trak2	A	T	1: 58,918,855		probably null	Het
Trim33	T	A	3: 103,337,444	Y716N	probably damaging	Het
Trrap	T	G	5: 144,816,053	I1813R	probably damaging	Het
Ttc29	A	G	8: 78,251,732	E137G	probably benign	Het
Ube2j2	A	G	4: 155,949,026	K19R	probably benign	Het
Ubxn2b	T	C	4: 6,208,889	I206T	possibly damaging	Het
Usp40	A	G	1: 87,982,056	F559L	probably benign	Het
Utp4	T	A	8: 106,912,350		probably null	Het
Vac14	A	G	8: 110,682,534	N524S	probably benign	Het
Vps13c	T	C	9: 67,894,052	S605P	probably damaging	Het
Zdhhc19	C	T	16: 32,498,413	R28*	probably null	Het
Zfp106	T	C	2: 120,526,848	I1189V	probably benign	Het
Zfp189	C	T	4: 49,529,511	Q205*	probably null	Het

Other mutations in Vwa5b2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01307:Vwa5b2	APN	16	20604270	missense	probably benign
IGL01543:Vwa5b2	APN	16	20595716	missense	probably benign	0.02
IGL01719:Vwa5b2	APN	16	20597433	critical splice donor site	probably null
IGL02006:Vwa5b2	APN	16	20597093	missense	probably damaging	0.97
IGL02150:Vwa5b2	APN	16	20604826	missense	probably benign
IGL02301:Vwa5b2	APN	16	20604790	missense	probably damaging	1.00
IGL02373:Vwa5b2	APN	16	20604844	missense	probably damaging	0.99
IGL02413:Vwa5b2	APN	16	20598101	missense	probably damaging	1.00
IGL02664:Vwa5b2	APN	16	20595313	unclassified	probably benign
R1171:Vwa5b2	UTSW	16	20604984	missense	probably benign
R1405:Vwa5b2	UTSW	16	20604316	missense	probably benign	0.00
R1405:Vwa5b2	UTSW	16	20604316	missense	probably benign	0.00
R1464:Vwa5b2	UTSW	16	20596269	missense	probably benign	0.08
R1464:Vwa5b2	UTSW	16	20596269	missense	probably benign	0.08
R1730:Vwa5b2	UTSW	16	20600925	missense	probably damaging	1.00
R1901:Vwa5b2	UTSW	16	20604832	missense	possibly damaging	0.77
R1902:Vwa5b2	UTSW	16	20604832	missense	possibly damaging	0.77
R1959:Vwa5b2	UTSW	16	20602191	critical splice donor site	probably null
R1961:Vwa5b2	UTSW	16	20602191	critical splice donor site	probably null
R3522:Vwa5b2	UTSW	16	20601608	missense	probably damaging	0.99
R3687:Vwa5b2	UTSW	16	20591558	unclassified	probably benign
R3746:Vwa5b2	UTSW	16	20598326	intron	probably benign
R3747:Vwa5b2	UTSW	16	20598326	intron	probably benign
R3749:Vwa5b2	UTSW	16	20598326	intron	probably benign
R3952:Vwa5b2	UTSW	16	20598361	makesense	probably null
R4641:Vwa5b2	UTSW	16	20604643	missense	probably damaging	1.00
R4646:Vwa5b2	UTSW	16	20596329	missense	probably damaging	1.00
R4772:Vwa5b2	UTSW	16	20600803	splice site	probably null
R5032:Vwa5b2	UTSW	16	20600709	missense	probably damaging	1.00
R5286:Vwa5b2	UTSW	16	20596308	missense	probably damaging	1.00
R5569:Vwa5b2	UTSW	16	20595339	missense	probably damaging	1.00
R5585:Vwa5b2	UTSW	16	20594678	nonsense	probably null
R5640:Vwa5b2	UTSW	16	20597542	missense	probably damaging	1.00
R6330:Vwa5b2	UTSW	16	20601977	missense	probably damaging	1.00
R6459:Vwa5b2	UTSW	16	20594679	missense	probably damaging	0.98
R6992:Vwa5b2	UTSW	16	20598202	missense	probably damaging	1.00
R7102:Vwa5b2	UTSW	16	20604234	missense	probably benign	0.00
R7231:Vwa5b2	UTSW	16	20604128	missense	probably benign	0.00
R7591:Vwa5b2	UTSW	16	20601567	missense	probably damaging	0.96
R7765:Vwa5b2	UTSW	16	20594611	missense	probably benign
R8269:Vwa5b2	UTSW	16	20604438	missense	probably damaging	1.00
R8311:Vwa5b2	UTSW	16	20591222	missense	probably damaging	1.00
Z1176:Vwa5b2	UTSW	16	20591253	missense	probably damaging	0.99
Z1177:Vwa5b2	UTSW	16	20600651	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCAGCATCATCTCCTTGGGC -3'
(R):5'- ACATTCGAAGGGCTGTAACAC -3'

Sequencing Primer
(F):5'- GGCATTTCTGAGCCCTGG -3'
(R):5'- CAGCAAGTGTAGCTGCAGATTCTG -3'

Posted On

2014-06-30