Mutagenetix > Incidental Mutation

Incidental Mutation 'R6728:Vwa3b'

529933

Institutional Source

Beutler Lab

Gene Symbol

Vwa3b

Ensembl Gene

ENSMUSG00000050122

Gene Name

von Willebrand factor A domain containing 3B

Synonyms

A230074B11Rik, 4921511C04Rik

MMRRC Submission

044846-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R6728 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

37068372-37226689 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 37196453 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 27 (M27V)

Ref Sequence

ENSEMBL: ENSMUSP00000132886 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027289] [ENSMUST00000169057]

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 damaging
Transcript: ENSMUST00000169057
AA Change: M27V

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.4%
20x: 95.6%

Validation Efficiency

Allele List at MGI

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

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	C	14: 32,384,645 (GRCm39)	Y440C	possibly damaging	Het
Acot11	C	T	4: 106,617,327 (GRCm39)	G240R	probably damaging	Het
Adcy5	T	A	16: 34,977,535 (GRCm39)	V356E	possibly damaging	Het
Agmat	G	T	4: 141,476,897 (GRCm39)	C101F	probably benign	Het
Aoc1l3	T	C	6: 48,965,779 (GRCm39)	S596P	possibly damaging	Het
Atl1	T	C	12: 69,994,324 (GRCm39)	V276A	possibly damaging	Het
Barhl1	G	A	2: 28,805,495 (GRCm39)	P66L	probably benign	Het
Camk4	A	T	18: 33,317,992 (GRCm39)	E383V	probably benign	Het
Cap2	G	A	13: 46,793,335 (GRCm39)	E234K	possibly damaging	Het
Col24a1	A	T	3: 145,020,957 (GRCm39)	M443L	probably benign	Het
Cyp17a1	A	G	19: 46,657,673 (GRCm39)	V293A	probably benign	Het
Epha6	C	A	16: 60,245,198 (GRCm39)	A334S	possibly damaging	Het
Frmpd1	T	C	4: 45,284,664 (GRCm39)	S1162P	probably benign	Het
Hspbp1	T	A	7: 4,663,781 (GRCm39)	M355L	possibly damaging	Het
Insrr	C	T	3: 87,720,873 (GRCm39)	R1044C	probably damaging	Het
Kin	G	A	2: 10,094,959 (GRCm39)	R82Q	possibly damaging	Het
Ninl	G	T	2: 150,817,777 (GRCm39)	S129*	probably null	Het
Or11h4	T	C	14: 50,974,296 (GRCm39)	T108A	possibly damaging	Het
Or4k35	A	T	2: 111,100,018 (GRCm39)	D231E	probably benign	Het
Paqr5	C	T	9: 61,871,065 (GRCm39)	R171Q	probably damaging	Het
Platr25	G	A	13: 62,848,197 (GRCm39)	H222Y	probably damaging	Het
Plcb2	G	T	2: 118,554,171 (GRCm39)	S94Y	probably damaging	Het
Rock2	T	C	12: 17,011,737 (GRCm39)	Y722H	probably benign	Het
Sh3kbp1	A	T	X: 158,624,176 (GRCm39)	E39D	probably benign	Homo
Thsd4	T	C	9: 59,904,480 (GRCm39)	D572G	probably benign	Het
Tnrc6b	T	A	15: 80,802,727 (GRCm39)	L1510H	probably damaging	Het
Tsc2	A	G	17: 24,840,098 (GRCm39)	S433P	probably damaging	Het
Vegfc	T	C	8: 54,639,057 (GRCm39)	V401A	probably damaging	Het

Other mutations in Vwa3b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01404:Vwa3b	APN	1	37,193,117 (GRCm39)	missense	probably benign	0.28
IGL02236:Vwa3b	APN	1	37,193,132 (GRCm39)	splice site	probably benign
IGL02653:Vwa3b	APN	1	37,214,646 (GRCm39)	utr 3 prime	probably benign
IGL02823:Vwa3b	APN	1	37,225,985 (GRCm39)	utr 3 prime	probably benign
IGL03030:Vwa3b	APN	1	37,084,049 (GRCm39)	missense	probably damaging	1.00
P0014:Vwa3b	UTSW	1	37,212,995 (GRCm39)	utr 3 prime	probably benign
R0035:Vwa3b	UTSW	1	37,204,770 (GRCm39)	missense	possibly damaging	0.69
R0102:Vwa3b	UTSW	1	37,174,595 (GRCm39)	missense	probably damaging	1.00
R0556:Vwa3b	UTSW	1	37,203,566 (GRCm39)	splice site	probably benign
R1061:Vwa3b	UTSW	1	37,196,511 (GRCm39)	missense	probably damaging	1.00
R1386:Vwa3b	UTSW	1	37,090,962 (GRCm39)	critical splice donor site	probably null
R2441:Vwa3b	UTSW	1	37,182,150 (GRCm39)	unclassified	probably benign
R3117:Vwa3b	UTSW	1	37,148,158 (GRCm39)	missense	possibly damaging	0.95
R3119:Vwa3b	UTSW	1	37,148,158 (GRCm39)	missense	possibly damaging	0.95
R4081:Vwa3b	UTSW	1	37,074,905 (GRCm39)	missense	probably damaging	0.99
R4393:Vwa3b	UTSW	1	37,084,259 (GRCm39)	missense	probably damaging	1.00
R4897:Vwa3b	UTSW	1	37,153,684 (GRCm39)	splice site	probably benign
R4950:Vwa3b	UTSW	1	37,124,413 (GRCm39)	missense	probably benign	0.00
R4978:Vwa3b	UTSW	1	37,154,752 (GRCm39)	missense	probably damaging	0.99
R5141:Vwa3b	UTSW	1	37,226,102 (GRCm39)	utr 3 prime	probably benign
R5286:Vwa3b	UTSW	1	37,084,120 (GRCm39)	missense	probably damaging	1.00
R5356:Vwa3b	UTSW	1	37,153,664 (GRCm39)	missense	probably damaging	0.99
R5426:Vwa3b	UTSW	1	37,154,752 (GRCm39)	missense	probably damaging	0.99
R5480:Vwa3b	UTSW	1	37,139,787 (GRCm39)	nonsense	probably null
R5727:Vwa3b	UTSW	1	37,174,600 (GRCm39)	missense	probably benign	0.10
R5876:Vwa3b	UTSW	1	37,115,520 (GRCm39)	missense	probably damaging	0.97
R6191:Vwa3b	UTSW	1	37,153,612 (GRCm39)	missense	possibly damaging	0.92
R6219:Vwa3b	UTSW	1	37,139,779 (GRCm39)	missense	possibly damaging	0.92
R6250:Vwa3b	UTSW	1	37,090,966 (GRCm39)	splice site	probably null
R6281:Vwa3b	UTSW	1	37,163,063 (GRCm39)	missense	probably damaging	1.00
R6419:Vwa3b	UTSW	1	37,196,457 (GRCm39)	missense	probably benign	0.01
R6467:Vwa3b	UTSW	1	37,124,367 (GRCm39)	missense	probably benign	0.01
R6512:Vwa3b	UTSW	1	37,102,723 (GRCm39)	intron	probably benign
R6541:Vwa3b	UTSW	1	37,090,842 (GRCm39)	missense	probably damaging	1.00
R6724:Vwa3b	UTSW	1	37,084,112 (GRCm39)	missense	probably damaging	1.00
R7046:Vwa3b	UTSW	1	37,212,959 (GRCm39)	missense	probably benign
R7117:Vwa3b	UTSW	1	37,174,634 (GRCm39)	missense
R7304:Vwa3b	UTSW	1	37,203,586 (GRCm39)	missense	probably damaging	1.00
R7402:Vwa3b	UTSW	1	37,153,678 (GRCm39)	nonsense	probably null
R7762:Vwa3b	UTSW	1	37,163,126 (GRCm39)	missense	probably damaging	1.00
R7911:Vwa3b	UTSW	1	37,193,107 (GRCm39)	missense	probably damaging	1.00
R8213:Vwa3b	UTSW	1	37,168,020 (GRCm39)	missense	probably benign	0.07
R8402:Vwa3b	UTSW	1	37,204,879 (GRCm39)	missense	probably damaging	1.00
R8697:Vwa3b	UTSW	1	37,115,461 (GRCm39)	missense	probably benign	0.09
R8758:Vwa3b	UTSW	1	37,176,873 (GRCm39)	missense
R8874:Vwa3b	UTSW	1	37,074,839 (GRCm39)	missense	possibly damaging	0.73
R9011:Vwa3b	UTSW	1	37,154,767 (GRCm39)	missense	probably damaging	1.00
R9012:Vwa3b	UTSW	1	37,124,391 (GRCm39)	missense	probably benign	0.15
R9015:Vwa3b	UTSW	1	37,203,597 (GRCm39)	missense	possibly damaging	0.71
R9102:Vwa3b	UTSW	1	37,174,593 (GRCm39)	start codon destroyed	probably null
R9263:Vwa3b	UTSW	1	37,099,493 (GRCm39)	missense	probably benign	0.43
R9277:Vwa3b	UTSW	1	37,196,534 (GRCm39)	critical splice donor site	probably null
R9294:Vwa3b	UTSW	1	37,074,882 (GRCm39)	missense	probably damaging	0.99
R9341:Vwa3b	UTSW	1	37,153,615 (GRCm39)	missense	probably damaging	1.00
R9343:Vwa3b	UTSW	1	37,153,615 (GRCm39)	missense	probably damaging	1.00
R9502:Vwa3b	UTSW	1	37,099,520 (GRCm39)	missense	probably damaging	0.99
R9758:Vwa3b	UTSW	1	37,081,438 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AAGCCTCTGGTGATAGTGTTCAG -3'
(R):5'- ATGAGCTCTTACTTCCAGGCTG -3'

Sequencing Primer
(F):5'- CAGTTATGACAAAGGTTTCCTGAAGC -3'
(R):5'- TGGGGCCATTTTATAATTTTCAGAG -3'

Posted On

2018-08-01