Mutagenetix > Incidental Mutation

Incidental Mutation 'R0114:Vwa5b1'

20633

Institutional Source

Beutler Lab

Gene Symbol

Vwa5b1

Ensembl Gene

ENSMUSG00000028753

Gene Name

von Willebrand factor A domain containing 5B1

Synonyms

MMRRC Submission

038400-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0114 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

138565360-138635884 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 138608858 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 142 (E142*)

Ref Sequence

ENSEMBL: ENSMUSP00000030533 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030533] [ENSMUST00000105812]

AlphaFold

A9Z1V5

Predicted Effect

probably null
Transcript: ENSMUST00000030533
AA Change: E142*

SMART Domains

Protein: ENSMUSP00000030533
Gene: ENSMUSG00000028753
AA Change: E142*

Domain	Start	End	E-Value	Type
Pfam:VIT_2	2	79	2e-28	PFAM
Pfam:VIT	15	138	1.5e-7	PFAM
VWA	351	513	6.04e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000105812

SMART Domains

Protein: ENSMUSP00000101438
Gene: ENSMUSG00000028753

Domain	Start	End	E-Value	Type
Pfam:VIT_2	16	93	1.9e-30	PFAM
Pfam:VIT	29	103	2.1e-7	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133319

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154312

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 98.6%
3x: 97.4%
10x: 93.2%
20x: 79.2%

Validation Efficiency

100% (99/99)

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057J18Rik	T	C	10: 28,985,982 (GRCm38)		probably benign	Het
4933427D14Rik	T	C	11: 72,195,799 (GRCm38)	Y262C	probably damaging	Het
Adamts1	C	A	16: 85,799,614 (GRCm38)	V379L	probably benign	Het
Akt3	T	C	1: 177,067,251 (GRCm38)	D260G	probably damaging	Het
Alms1	T	C	6: 85,619,803 (GRCm38)	L537P	probably benign	Het
Anln	A	T	9: 22,353,346 (GRCm38)	I876N	probably damaging	Het
Ano9	A	T	7: 141,103,239 (GRCm38)		probably benign	Het
Arhgef10l	T	C	4: 140,583,883 (GRCm38)	E218G	probably benign	Het
Arnt2	G	A	7: 84,347,530 (GRCm38)	R63C	probably damaging	Het
Atp9a	G	T	2: 168,710,856 (GRCm38)	Y63*	probably null	Het
Bmpr2	G	T	1: 59,815,340 (GRCm38)	C116F	probably damaging	Het
Cand1	T	C	10: 119,216,522 (GRCm38)	D233G	probably benign	Het
Cftr	A	T	6: 18,282,448 (GRCm38)	H1049L	probably damaging	Het
Ckap5	A	T	2: 91,620,112 (GRCm38)	D1975V	possibly damaging	Het
Cyp26c1	T	C	19: 37,686,633 (GRCm38)	V134A	probably benign	Het
Dnaic1	T	C	4: 41,605,686 (GRCm38)		probably benign	Het
Dpp10	T	C	1: 123,486,092 (GRCm38)	I163V	probably benign	Het
Fam151a	A	T	4: 106,734,004 (GRCm38)	I15F	possibly damaging	Het
Fanca	A	T	8: 123,288,491 (GRCm38)		probably null	Het
Fes	A	G	7: 80,378,035 (GRCm38)	V787A	probably damaging	Het
Fnip1	C	T	11: 54,487,801 (GRCm38)		probably benign	Het
Gabpb1	A	G	2: 126,653,574 (GRCm38)	I86T	probably damaging	Het
Gm1840	A	G	8: 5,640,359 (GRCm38)		noncoding transcript	Het
Gmds	A	T	13: 32,227,281 (GRCm38)	S57T	probably benign	Het
Gnpat	T	G	8: 124,883,357 (GRCm38)	D426E	probably benign	Het
Gnptab	C	A	10: 88,433,400 (GRCm38)	P655Q	possibly damaging	Het
Herc1	T	A	9: 66,461,846 (GRCm38)	F2941I	probably damaging	Het
Herc2	T	C	7: 56,153,774 (GRCm38)		probably benign	Het
Ino80	G	A	2: 119,382,960 (GRCm38)	R1249C	probably damaging	Het
Itga11	T	C	9: 62,760,302 (GRCm38)	V639A	possibly damaging	Het
Itga11	T	G	9: 62,735,293 (GRCm38)	V166G	probably damaging	Het
Itpr2	A	G	6: 146,312,879 (GRCm38)	F1490S	probably damaging	Het
Lama2	C	A	10: 26,993,068 (GRCm38)	E802*	probably null	Het
Lgi3	C	T	14: 70,531,029 (GRCm38)		probably benign	Het
Limch1	C	T	5: 67,036,084 (GRCm38)		probably benign	Het
Lipc	T	C	9: 70,803,781 (GRCm38)	N363S	probably damaging	Het
Lrit2	A	G	14: 37,068,045 (GRCm38)		probably null	Het
Mfsd13a	C	T	19: 46,366,504 (GRCm38)	T40I	probably benign	Het
Mug2	A	G	6: 122,040,648 (GRCm38)	Y448C	probably damaging	Het
Mybpc3	A	G	2: 91,124,494 (GRCm38)	E450G	probably damaging	Het
Myo5b	A	T	18: 74,742,171 (GRCm38)	T1549S	probably benign	Het
Naa15	T	C	3: 51,448,438 (GRCm38)		probably null	Het
Nckap1l	T	A	15: 103,455,028 (GRCm38)	C54S	probably benign	Het
Nlrp9b	A	G	7: 20,024,056 (GRCm38)	D406G	probably benign	Het
Nprl3	T	A	11: 32,239,784 (GRCm38)		probably benign	Het
Nvl	A	G	1: 181,120,391 (GRCm38)	V429A	probably benign	Het
Olfr114	A	T	17: 37,589,415 (GRCm38)	*313K	probably null	Het
Olfr54	G	A	11: 51,027,604 (GRCm38)	V201I	probably benign	Het
Olfr548-ps1	A	T	7: 102,542,731 (GRCm38)	Q265L	probably benign	Het
Olfr801	T	A	10: 129,669,598 (GRCm38)	Y307F	probably benign	Het
Opa1	A	T	16: 29,629,635 (GRCm38)	N912Y	probably benign	Het
Pcnx	T	C	12: 81,996,095 (GRCm38)	V2317A	possibly damaging	Het
Phf3	A	T	1: 30,805,443 (GRCm38)	N1478K	possibly damaging	Het
Phykpl	G	A	11: 51,586,653 (GRCm38)	D91N	probably benign	Het
Polr2b	T	A	5: 77,343,263 (GRCm38)	C984S	probably damaging	Het
Ppfibp1	A	G	6: 146,998,233 (GRCm38)	R141G	probably benign	Het
Ppm1d	G	A	11: 85,326,905 (GRCm38)	G20R	probably damaging	Het
Ppp1r16a	C	T	15: 76,690,799 (GRCm38)		probably benign	Het
Ppp2r5b	C	A	19: 6,228,431 (GRCm38)	V483F	probably benign	Het
Ppp4r4	T	A	12: 103,576,374 (GRCm38)	C132S	probably benign	Het
Prg2	A	G	2: 84,983,456 (GRCm38)		probably benign	Het
Prpf4b	G	A	13: 34,890,488 (GRCm38)		probably benign	Het
Rad54l2	T	C	9: 106,713,455 (GRCm38)	T491A	probably damaging	Het
Rnf213	G	T	11: 119,414,587 (GRCm38)	W548L	probably damaging	Het
Rusc2	G	T	4: 43,422,055 (GRCm38)	C825F	probably damaging	Het
Sema4b	A	G	7: 80,219,078 (GRCm38)		probably benign	Het
Sema6a	A	G	18: 47,290,177 (GRCm38)	V254A	probably damaging	Het
Slc13a3	A	G	2: 165,424,581 (GRCm38)	F346L	probably damaging	Het
Slc25a17	T	C	15: 81,337,959 (GRCm38)	D104G	probably damaging	Het
Specc1	A	T	11: 62,146,313 (GRCm38)	N707Y	possibly damaging	Het
Tex48	T	A	4: 63,608,459 (GRCm38)	E76V	probably damaging	Het
Tfr2	T	C	5: 137,577,465 (GRCm38)	V281A	probably benign	Het
Tgfb1i1	A	C	7: 128,249,494 (GRCm38)	Q238H	probably damaging	Het
Thoc6	G	A	17: 23,670,239 (GRCm38)	T122I	probably benign	Het
Tmtc1	G	A	6: 148,412,830 (GRCm38)		probably benign	Het
Tnfrsf8	T	C	4: 145,288,047 (GRCm38)	D264G	possibly damaging	Het
Trim43a	T	A	9: 88,584,160 (GRCm38)	I178N	probably damaging	Het
Ttn	G	C	2: 76,707,093 (GRCm38)	I26503M	possibly damaging	Het
Usp28	C	A	9: 49,039,023 (GRCm38)	D589E	probably benign	Het
Utp23	T	C	15: 51,882,511 (GRCm38)	S242P	probably damaging	Het
Vwa3a	A	G	7: 120,775,380 (GRCm38)	Y305C	probably benign	Het
Xrn2	A	T	2: 147,029,779 (GRCm38)	T374S	probably damaging	Het
Zfp735	A	T	11: 73,710,662 (GRCm38)	Q144L	probably benign	Het

Other mutations in Vwa5b1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01952:Vwa5b1	APN	4	138,581,217 (GRCm38)	missense	probably benign	0.08
IGL02133:Vwa5b1	APN	4	138,586,557 (GRCm38)	critical splice donor site	probably null
IGL02379:Vwa5b1	APN	4	138,612,859 (GRCm38)	missense	probably damaging	1.00
IGL02671:Vwa5b1	APN	4	138,569,126 (GRCm38)	nonsense	probably null
IGL02864:Vwa5b1	APN	4	138,608,975 (GRCm38)	missense	probably benign	0.00
IGL03076:Vwa5b1	APN	4	138,600,188 (GRCm38)	missense	probably damaging	1.00
IGL03115:Vwa5b1	APN	4	138,600,149 (GRCm38)	missense	possibly damaging	0.93
IGL03119:Vwa5b1	APN	4	138,606,541 (GRCm38)	missense	probably benign	0.01
PIT4283001:Vwa5b1	UTSW	4	138,600,263 (GRCm38)	missense	probably damaging	1.00
R0157:Vwa5b1	UTSW	4	138,604,879 (GRCm38)	missense	probably benign	0.00
R0528:Vwa5b1	UTSW	4	138,594,351 (GRCm38)	missense	probably damaging	1.00
R0562:Vwa5b1	UTSW	4	138,635,711 (GRCm38)	splice site	probably benign
R0718:Vwa5b1	UTSW	4	138,608,824 (GRCm38)	missense	probably damaging	1.00
R1555:Vwa5b1	UTSW	4	138,605,477 (GRCm38)	missense	probably benign	0.02
R1573:Vwa5b1	UTSW	4	138,604,873 (GRCm38)	missense	probably damaging	1.00
R1857:Vwa5b1	UTSW	4	138,569,102 (GRCm38)	missense	probably damaging	1.00
R1883:Vwa5b1	UTSW	4	138,575,389 (GRCm38)	missense	probably damaging	0.96
R1906:Vwa5b1	UTSW	4	138,600,236 (GRCm38)	missense	possibly damaging	0.93
R1913:Vwa5b1	UTSW	4	138,592,020 (GRCm38)	nonsense	probably null
R2121:Vwa5b1	UTSW	4	138,588,569 (GRCm38)	missense	probably benign	0.00
R2213:Vwa5b1	UTSW	4	138,604,812 (GRCm38)	missense	probably benign	0.00
R2355:Vwa5b1	UTSW	4	138,591,910 (GRCm38)	critical splice donor site	probably null
R2655:Vwa5b1	UTSW	4	138,594,303 (GRCm38)	missense	probably damaging	1.00
R4134:Vwa5b1	UTSW	4	138,594,330 (GRCm38)	missense	possibly damaging	0.69
R4135:Vwa5b1	UTSW	4	138,594,330 (GRCm38)	missense	possibly damaging	0.69
R4635:Vwa5b1	UTSW	4	138,610,839 (GRCm38)	missense	possibly damaging	0.82
R4773:Vwa5b1	UTSW	4	138,581,755 (GRCm38)	missense	probably benign	0.01
R4832:Vwa5b1	UTSW	4	138,605,540 (GRCm38)	missense	probably damaging	1.00
R4906:Vwa5b1	UTSW	4	138,610,747 (GRCm38)	missense	probably benign	0.03
R4916:Vwa5b1	UTSW	4	138,594,262 (GRCm38)	missense	possibly damaging	0.81
R4995:Vwa5b1	UTSW	4	138,608,843 (GRCm38)	missense	probably damaging	1.00
R5573:Vwa5b1	UTSW	4	138,608,890 (GRCm38)	missense	probably damaging	1.00
R5872:Vwa5b1	UTSW	4	138,578,651 (GRCm38)	missense	possibly damaging	0.63
R6255:Vwa5b1	UTSW	4	138,578,672 (GRCm38)	missense	probably benign	0.00
R6811:Vwa5b1	UTSW	4	138,592,103 (GRCm38)	missense	probably benign	0.00
R6901:Vwa5b1	UTSW	4	138,586,569 (GRCm38)	missense	probably benign
R7144:Vwa5b1	UTSW	4	138,605,431 (GRCm38)	critical splice donor site	probably null
R7146:Vwa5b1	UTSW	4	138,581,612 (GRCm38)	missense	probably benign	0.00
R7159:Vwa5b1	UTSW	4	138,575,422 (GRCm38)	missense	possibly damaging	0.56
R7362:Vwa5b1	UTSW	4	138,594,312 (GRCm38)	missense	probably damaging	1.00
R7690:Vwa5b1	UTSW	4	138,590,933 (GRCm38)	missense	probably damaging	0.98
R7908:Vwa5b1	UTSW	4	138,569,170 (GRCm38)	nonsense	probably null
R7965:Vwa5b1	UTSW	4	138,605,489 (GRCm38)	missense	probably damaging	1.00
R8865:Vwa5b1	UTSW	4	138,581,219 (GRCm38)	missense	probably benign	0.02
R8866:Vwa5b1	UTSW	4	138,600,317 (GRCm38)	missense	probably damaging	1.00
R8872:Vwa5b1	UTSW	4	138,578,645 (GRCm38)	missense	probably damaging	1.00
R8889:Vwa5b1	UTSW	4	138,610,730 (GRCm38)	missense	probably benign	0.01
R9045:Vwa5b1	UTSW	4	138,588,679 (GRCm38)	missense	probably damaging	1.00
R9089:Vwa5b1	UTSW	4	138,569,431 (GRCm38)	missense	probably benign	0.08
R9273:Vwa5b1	UTSW	4	138,588,694 (GRCm38)	missense	probably damaging	1.00
R9366:Vwa5b1	UTSW	4	138,590,918 (GRCm38)	missense	probably damaging	0.97
R9450:Vwa5b1	UTSW	4	138,588,629 (GRCm38)	missense	possibly damaging	0.89
R9646:Vwa5b1	UTSW	4	138,592,109 (GRCm38)	missense	probably damaging	0.97
Z1177:Vwa5b1	UTSW	4	138,612,838 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCCTTGCACTTCTGCCAGAAC -3'
(R):5'- AGCCAACTTGGCACTTAGGGAAC -3'

Sequencing Primer
(F):5'- CAGAACCAAGATGGGGCTTTTC -3'
(R):5'- ttggcacttagggaactttcCG -3'

Posted On

2013-04-11