Mutagenetix > Incidental Mutations

Incidental Mutation 'R8697:Vwa3b'

668748

Institutional Source

Beutler Lab

Gene Symbol

Vwa3b

Ensembl Gene

ENSMUSG00000050122

Gene Name

von Willebrand factor A domain containing 3B

Synonyms

4921511C04Rik, A230074B11Rik

MMRRC Submission

Accession Numbers

NCBI RefSeq: XM_003084438.1; MGI:1918103

Is this an essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R8697 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37026596-37187613 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 37076380 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 308 (H308Q)

Ref Sequence

ENSEMBL: ENSMUSP00000125460 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027289] [ENSMUST00000067178] [ENSMUST00000117172] [ENSMUST00000162449]

AlphaFold

A0A571BE33

Predicted Effect

probably benign
Transcript: ENSMUST00000027289

SMART Domains

Protein: ENSMUSP00000027289
Gene: ENSMUSG00000050122

Domain	Start	End	E-Value	Type
Pfam:DUF4537	159	285	9.1e-36	PFAM
low complexity region	327	336	N/A	INTRINSIC
low complexity region	345	364	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000067178
AA Change: H308Q

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000069700
Gene: ENSMUSG00000050122
AA Change: H308Q

Domain	Start	End	E-Value	Type
Blast:VWA	112	272	7e-16	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000117172
AA Change: H308Q

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000114022
Gene: ENSMUSG00000050122
AA Change: H308Q

Domain	Start	End	E-Value	Type
Blast:VWA	112	272	7e-16	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000162449
AA Change: H308Q

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000125460
Gene: ENSMUSG00000050122
AA Change: H308Q

Domain	Start	End	E-Value	Type
Blast:VWA	112	272	7e-16	BLAST

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

98% (58/59)

Allele List at MGI

All alleles(71) : Targeted(3) Gene trapped(68)

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930558K02Rik	C	T	1: 161,967,996	A8T	probably benign	Het
Acacb	T	C	5: 114,213,380	V1130A	probably damaging	Het
Ackr1	A	G	1: 173,332,208	F248S	probably damaging	Het
Alx4	G	A	2: 93,675,312	R253Q	probably damaging	Het
Ap3b2	T	C	7: 81,473,035	I485V	possibly damaging	Het
Aqp7	T	C	4: 41,045,305	E25G	probably damaging	Het
Cacna1g	T	C	11: 94,416,698	N1753D	probably benign	Het
Cacna2d1	T	A	5: 16,365,867	N1063K	possibly damaging	Het
Cad	T	C	5: 31,074,601	V1801A	probably benign	Het
Ccdc171	T	C	4: 83,682,340	W868R	probably damaging	Het
Cecr2	T	C	6: 120,733,818	Y165H	probably damaging	Het
Clip4	G	T	17: 71,856,275	G614V	possibly damaging	Het
Ctnnal1	T	A	4: 56,838,986	M236L	probably damaging	Het
Ctps	T	C	4: 120,542,750	D470G	probably benign	Het
Dmwd	A	C	7: 19,078,188	Q189P	probably damaging	Het
Dnah17	A	G	11: 118,086,159	I1869T	possibly damaging	Het
Eepd1	A	G	9: 25,586,702	N361S	probably benign	Het
Ephb6	C	T	6: 41,614,223	H105Y	probably damaging	Het
Fkbp15	A	T	4: 62,321,058	Y603*	probably null	Het
Flt3	T	C	5: 147,358,001	Y420C	possibly damaging	Het
Frem2	T	A	3: 53,525,828	T2692S	probably damaging	Het
Gna12	T	A	5: 140,785,445	R157S	probably benign	Het
Gsdmc	A	T	15: 63,780,034	S243T	probably benign	Het
Hectd1	A	G	12: 51,772,537		probably benign	Het
Hoxd11	G	A	2: 74,682,669	G93R	unknown	Het
Hydin	A	G	8: 110,532,883	I2496V	probably benign	Het
Igsf10	A	G	3: 59,318,887	I2455T	probably benign	Het
Ilvbl	A	T	10: 78,583,362	R482*	probably null	Het
Itpr1	A	G	6: 108,523,366	Y2640C	probably damaging	Het
Kif20a	C	G	18: 34,628,531	Q326E	probably benign	Het
Lamp1	A	T	8: 13,174,448	M371L	possibly damaging	Het
Lcn6	A	G	2: 25,677,154	N56D	probably benign	Het
Map3k10	A	G	7: 27,663,359	V434A	probably benign	Het
Mdga1	T	C	17: 29,846,641	N331S	probably damaging	Het
Mndal	C	A	1: 173,872,992	E138*	probably null	Het
Morc3	T	C	16: 93,871,020	V762A	probably benign	Het
Ngef	A	T	1: 87,489,737	F279Y	probably damaging	Het
Olfr1026	A	T	2: 85,923,856	K196I	possibly damaging	Het
Olfr455	A	G	6: 42,538,695	V109A	probably damaging	Het
Padi4	GGAGCTCCTGA	GGA	4: 140,757,919		probably null	Het
Pcdhb4	G	A	18: 37,308,779	V381M	probably benign	Het
Ppm1d	T	C	11: 85,337,160	Y301H	possibly damaging	Het
Rasgrf1	A	G	9: 89,995,002	T807A	probably benign	Het
Repin1	G	T	6: 48,597,345	E403*	probably null	Het
Sipa1l2	T	C	8: 125,482,116	K518E	probably damaging	Het
Slc52a3	A	G	2: 152,004,476	D119G	probably damaging	Het
Srsf4	C	T	4: 131,900,731	H379Y	unknown	Het
Ssr1	G	T	13: 37,983,449	S246*	probably null	Het
Tars2	C	T	3: 95,746,062	E509K	possibly damaging	Het
Tcrg-C2	A	T	13: 19,307,344	M69K		Het
Tepsin	G	T	11: 120,097,528	Y34*	probably null	Het
Tmtc2	A	G	10: 105,369,970	I488T	probably damaging	Het
Ttc37	A	G	13: 76,180,155	S1441G	probably damaging	Het
Ttn	A	G	2: 76,744,776	W25258R	probably damaging	Het
Utp14b	T	C	1: 78,666,527	M714T	probably benign	Het
Washc2	A	G	6: 116,229,259	D480G	probably benign	Het
Xcl1	C	T	1: 164,935,439	V18I	unknown	Het
Zcchc2	C	A	1: 106,030,764	N988K	probably damaging	Het

Other mutations in Vwa3b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01404:Vwa3b	APN	1	37154036	missense	probably benign	0.28
IGL02236:Vwa3b	APN	1	37154051	splice site	probably benign
IGL02653:Vwa3b	APN	1	37175565	utr 3 prime	probably benign
IGL02823:Vwa3b	APN	1	37186904	utr 3 prime	probably benign
IGL03030:Vwa3b	APN	1	37044968	missense	probably damaging	1.00
P0014:Vwa3b	UTSW	1	37173914	utr 3 prime	probably benign
R0035:Vwa3b	UTSW	1	37165689	missense	possibly damaging	0.69
R0102:Vwa3b	UTSW	1	37135514	missense	probably damaging	1.00
R0556:Vwa3b	UTSW	1	37164485	splice site	probably benign
R1061:Vwa3b	UTSW	1	37157430	missense	probably damaging	1.00
R1386:Vwa3b	UTSW	1	37051881	critical splice donor site	probably null
R2441:Vwa3b	UTSW	1	37143069	unclassified	probably benign
R3117:Vwa3b	UTSW	1	37109077	missense	possibly damaging	0.95
R3119:Vwa3b	UTSW	1	37109077	missense	possibly damaging	0.95
R4081:Vwa3b	UTSW	1	37035824	missense	probably damaging	0.99
R4393:Vwa3b	UTSW	1	37045178	missense	probably damaging	1.00
R4897:Vwa3b	UTSW	1	37114603	splice site	probably benign
R4950:Vwa3b	UTSW	1	37085332	missense	probably benign	0.00
R4978:Vwa3b	UTSW	1	37115671	missense	probably damaging	0.99
R5141:Vwa3b	UTSW	1	37187021	utr 3 prime	probably benign
R5286:Vwa3b	UTSW	1	37045039	missense	probably damaging	1.00
R5356:Vwa3b	UTSW	1	37114583	missense	probably damaging	0.99
R5426:Vwa3b	UTSW	1	37115671	missense	probably damaging	0.99
R5480:Vwa3b	UTSW	1	37100706	nonsense	probably null
R5727:Vwa3b	UTSW	1	37135519	missense	probably benign	0.10
R5876:Vwa3b	UTSW	1	37076439	missense	probably damaging	0.97
R6191:Vwa3b	UTSW	1	37114531	missense	possibly damaging	0.92
R6219:Vwa3b	UTSW	1	37100698	missense	possibly damaging	0.92
R6250:Vwa3b	UTSW	1	37051885	splice site	probably null
R6281:Vwa3b	UTSW	1	37123982	missense	probably damaging	1.00
R6419:Vwa3b	UTSW	1	37157376	missense	probably benign	0.01
R6467:Vwa3b	UTSW	1	37085286	missense	probably benign	0.01
R6512:Vwa3b	UTSW	1	37063642	intron	probably benign
R6541:Vwa3b	UTSW	1	37051761	missense	probably damaging	1.00
R6724:Vwa3b	UTSW	1	37045031	missense	probably damaging	1.00
R6728:Vwa3b	UTSW	1	37157372	missense	probably damaging	1.00
R7046:Vwa3b	UTSW	1	37173878	missense	probably benign
R7117:Vwa3b	UTSW	1	37135553	missense
R7304:Vwa3b	UTSW	1	37164505	missense	probably damaging	1.00
R7402:Vwa3b	UTSW	1	37114597	nonsense	probably null
R7762:Vwa3b	UTSW	1	37124045	missense	probably damaging	1.00
R7911:Vwa3b	UTSW	1	37154026	missense	probably damaging	1.00
R8213:Vwa3b	UTSW	1	37128939	missense	probably benign	0.07
R8402:Vwa3b	UTSW	1	37165798	missense	probably damaging	1.00
R8758:Vwa3b	UTSW	1	37137792	missense
R8874:Vwa3b	UTSW	1	37035758	missense	possibly damaging	0.73
R9011:Vwa3b	UTSW	1	37115686	missense	probably damaging	1.00
R9012:Vwa3b	UTSW	1	37085310	missense	probably benign	0.15
R9015:Vwa3b	UTSW	1	37164516	missense	possibly damaging	0.71
R9102:Vwa3b	UTSW	1	37135512	start codon destroyed	probably null
R9263:Vwa3b	UTSW	1	37060412	missense	probably benign	0.43
R9277:Vwa3b	UTSW	1	37157453	critical splice donor site	probably null
R9294:Vwa3b	UTSW	1	37035801	missense	probably damaging	0.99
R9341:Vwa3b	UTSW	1	37114534	missense	probably damaging	1.00
R9343:Vwa3b	UTSW	1	37114534	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCAGGAAACAGTGTTTGATGG -3'
(R):5'- CAACAACGGGACTTGTCTCC -3'

Sequencing Primer
(F):5'- GAATCACTTCGGTATCAGATCTGGC -3'
(R):5'- GTCTCCCACCAGGACACTTG -3'

Posted On

2021-04-30