Mutagenetix > Incidental Mutation

Incidental Mutation 'R1857:Vwa5b1'

206215

Institutional Source

Beutler Lab

Gene Symbol

Vwa5b1

Ensembl Gene

ENSMUSG00000028753

Gene Name

von Willebrand factor A domain containing 5B1

Synonyms

4931403E03Rik

MMRRC Submission

039881-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1857 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

138292671-138363195 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 138296413 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 1205 (F1205L)

Ref Sequence

ENSEMBL: ENSMUSP00000030533 (fasta)

Gene Model

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

AlphaFold

A9Z1V5

Predicted Effect

probably damaging
Transcript: ENSMUST00000030533
AA Change: F1205L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000030533
Gene: ENSMUSG00000028753
AA Change: F1205L

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: ENSMUST00000137206

Coding Region Coverage

1x: 97.4%
3x: 96.9%
10x: 95.3%
20x: 92.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars1	T	A	8: 111,766,789 (GRCm39)	I57N	probably damaging	Het
Abca15	T	C	7: 119,960,592 (GRCm39)	S685P	probably damaging	Het
Adpgk	G	T	9: 59,222,248 (GRCm39)	V392L	probably benign	Het
Akap14	C	T	X: 36,420,779 (GRCm39)	A476T	probably damaging	Het
Amdhd1	A	T	10: 93,367,416 (GRCm39)	I246N	probably damaging	Het
Amhr2	T	A	15: 102,355,212 (GRCm39)	L165*	probably null	Het
Atr	T	A	9: 95,747,150 (GRCm39)	I144N	probably damaging	Het
Ccdc33	T	C	9: 57,939,991 (GRCm39)	N750S	possibly damaging	Het
Cdh23	A	G	10: 60,159,076 (GRCm39)	I2233T	probably damaging	Het
Cfap46	C	A	7: 139,233,324 (GRCm39)	V774F	probably damaging	Het
Cfap69	G	T	5: 5,632,518 (GRCm39)	T362K	possibly damaging	Het
Cnih3	A	G	1: 181,277,638 (GRCm39)	H101R	probably damaging	Het
Crebrf	T	A	17: 26,961,937 (GRCm39)	Y345N	probably benign	Het
Cyb5r4	C	T	9: 86,923,332 (GRCm39)	S185L	probably benign	Het
Cyp2j5	T	C	4: 96,547,723 (GRCm39)	E173G	possibly damaging	Het
Cyp3a41b	T	A	5: 145,503,660 (GRCm39)	I296F	probably benign	Het
Dse	T	C	10: 34,029,225 (GRCm39)	T622A	probably benign	Het
Duxf4	A	G	10: 58,071,602 (GRCm39)	V204A	probably benign	Het
Dync1h1	T	A	12: 110,629,059 (GRCm39)	F4205L	probably damaging	Het
Eif3a	A	C	19: 60,770,635 (GRCm39)	L71V	probably damaging	Het
Eif3h	T	C	15: 51,662,674 (GRCm39)	Y124C	probably damaging	Het
Eif4g3	A	T	4: 137,903,187 (GRCm39)	Q1169L	possibly damaging	Het
Endod1	T	A	9: 14,268,405 (GRCm39)	H360L	probably benign	Het
Fbxo38	A	G	18: 62,648,489 (GRCm39)	I683T	probably damaging	Het
Frem2	T	A	3: 53,562,294 (GRCm39)	T738S	probably benign	Het
Gm1527	A	T	3: 28,957,539 (GRCm39)	T148S	probably damaging	Het
Gm4894	T	C	9: 49,189,976 (GRCm39)	S84P	unknown	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Il1f10	A	T	2: 24,182,817 (GRCm39)	D31V	possibly damaging	Het
Lrrc56	A	G	7: 140,787,421 (GRCm39)	M353V	probably benign	Het
Meiob	T	C	17: 25,042,544 (GRCm39)	V124A	probably damaging	Het
Mmp11	A	T	10: 75,764,191 (GRCm39)	D91E	probably benign	Het
Mpped2	T	C	2: 106,613,989 (GRCm39)	Y108H	probably damaging	Het
Mroh9	A	G	1: 162,866,714 (GRCm39)	V674A	probably damaging	Het
Mtor	G	T	4: 148,565,336 (GRCm39)	Q1015H	probably damaging	Het
Mylk3	G	A	8: 86,055,223 (GRCm39)	T711I	probably damaging	Het
Ndufaf6	G	T	4: 11,053,474 (GRCm39)	H277Q	probably benign	Het
Neurl4	G	T	11: 69,796,361 (GRCm39)	G435V	probably damaging	Het
Nipal2	A	G	15: 34,678,779 (GRCm39)	S21P	possibly damaging	Het
Nphp1	T	A	2: 127,612,296 (GRCm39)	D217V	probably benign	Het
Nphp3	T	C	9: 103,898,493 (GRCm39)	I432T	possibly damaging	Het
Oprd1	T	G	4: 131,840,992 (GRCm39)	D322A	probably damaging	Het
Or10ag2	T	C	2: 87,248,992 (GRCm39)	L198P	probably damaging	Het
Or2b28	A	G	13: 21,531,346 (GRCm39)	M83V	possibly damaging	Het
Or56a3b	T	G	7: 104,770,751 (GRCm39)	L29R	probably benign	Het
Pcdh10	C	A	3: 45,334,372 (GRCm39)	Q229K	possibly damaging	Het
Pdlim7	G	A	13: 55,653,858 (GRCm39)	T253M	probably damaging	Het
Pfdn1	C	A	18: 36,584,153 (GRCm39)	M60I	probably benign	Het
Pigc	T	G	1: 161,798,446 (GRCm39)	S143A	possibly damaging	Het
Pkd1l2	T	C	8: 117,767,408 (GRCm39)	D1294G	possibly damaging	Het
Ppp2r1a	T	C	17: 21,181,951 (GRCm39)	S490P	possibly damaging	Het
Ppp2r3d	T	A	9: 101,090,092 (GRCm39)	N77I	probably damaging	Het
Pramel17	T	C	4: 101,692,770 (GRCm39)	Y410C	probably damaging	Het
Pramel29	C	T	4: 143,935,091 (GRCm39)	V217I	possibly damaging	Het
Prl7a2	A	T	13: 27,843,163 (GRCm39)	C213*	probably null	Het
Prpf8	T	A	11: 75,386,249 (GRCm39)		probably null	Het
Psmd7	A	T	8: 108,311,525 (GRCm39)	N109K	probably damaging	Het
Ptprn	T	C	1: 75,224,549 (GRCm39)	K936E	possibly damaging	Het
Ro60	T	C	1: 143,646,488 (GRCm39)	T86A	probably benign	Het
Ror1	A	T	4: 100,298,700 (GRCm39)	Q691L	probably damaging	Het
Sars2	A	G	7: 28,449,437 (GRCm39)	M322V	probably benign	Het
Scfd2	C	A	5: 74,372,962 (GRCm39)	E638*	probably null	Het
Scgb3a2	A	G	18: 43,899,900 (GRCm39)	T63A	probably benign	Het
Slc5a4a	T	C	10: 76,002,569 (GRCm39)	S242P	probably benign	Het
Smarcd1	A	G	15: 99,607,295 (GRCm39)	K382E	probably damaging	Het
Sox5	T	A	6: 143,906,541 (GRCm39)	S305C	probably damaging	Het
Sp5	C	A	2: 70,307,213 (GRCm39)	H299Q	possibly damaging	Het
Stard13	T	C	5: 151,018,903 (GRCm39)	Y60C	probably damaging	Het
Tmprss6	A	G	15: 78,336,752 (GRCm39)	F383L	probably damaging	Het
Ttc23	T	C	7: 67,328,821 (GRCm39)		probably null	Het
Ugt2b34	T	C	5: 87,052,241 (GRCm39)	T252A	possibly damaging	Het
Vangl2	A	T	1: 171,837,464 (GRCm39)	L115Q	probably damaging	Het
Vmn1r42	A	G	6: 89,821,597 (GRCm39)	I324T	probably benign	Het
Zfp951	G	C	5: 104,962,723 (GRCm39)	T281R	probably damaging	Het
Zscan30	A	G	18: 24,104,524 (GRCm39)		noncoding transcript	Het

Other mutations in Vwa5b1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01952:Vwa5b1	APN	4	138,308,528 (GRCm39)	missense	probably benign	0.08
IGL02133:Vwa5b1	APN	4	138,313,868 (GRCm39)	critical splice donor site	probably null
IGL02379:Vwa5b1	APN	4	138,340,170 (GRCm39)	missense	probably damaging	1.00
IGL02671:Vwa5b1	APN	4	138,296,437 (GRCm39)	nonsense	probably null
IGL02864:Vwa5b1	APN	4	138,336,286 (GRCm39)	missense	probably benign	0.00
IGL03076:Vwa5b1	APN	4	138,327,499 (GRCm39)	missense	probably damaging	1.00
IGL03115:Vwa5b1	APN	4	138,327,460 (GRCm39)	missense	possibly damaging	0.93
IGL03119:Vwa5b1	APN	4	138,333,852 (GRCm39)	missense	probably benign	0.01
PIT4283001:Vwa5b1	UTSW	4	138,327,574 (GRCm39)	missense	probably damaging	1.00
R0114:Vwa5b1	UTSW	4	138,336,169 (GRCm39)	nonsense	probably null
R0157:Vwa5b1	UTSW	4	138,332,190 (GRCm39)	missense	probably benign	0.00
R0528:Vwa5b1	UTSW	4	138,321,662 (GRCm39)	missense	probably damaging	1.00
R0562:Vwa5b1	UTSW	4	138,363,022 (GRCm39)	splice site	probably benign
R0718:Vwa5b1	UTSW	4	138,336,135 (GRCm39)	missense	probably damaging	1.00
R1555:Vwa5b1	UTSW	4	138,332,788 (GRCm39)	missense	probably benign	0.02
R1573:Vwa5b1	UTSW	4	138,332,184 (GRCm39)	missense	probably damaging	1.00
R1883:Vwa5b1	UTSW	4	138,302,700 (GRCm39)	missense	probably damaging	0.96
R1906:Vwa5b1	UTSW	4	138,327,547 (GRCm39)	missense	possibly damaging	0.93
R1913:Vwa5b1	UTSW	4	138,319,331 (GRCm39)	nonsense	probably null
R2121:Vwa5b1	UTSW	4	138,315,880 (GRCm39)	missense	probably benign	0.00
R2213:Vwa5b1	UTSW	4	138,332,123 (GRCm39)	missense	probably benign	0.00
R2355:Vwa5b1	UTSW	4	138,319,221 (GRCm39)	critical splice donor site	probably null
R2655:Vwa5b1	UTSW	4	138,321,614 (GRCm39)	missense	probably damaging	1.00
R4134:Vwa5b1	UTSW	4	138,321,641 (GRCm39)	missense	possibly damaging	0.69
R4135:Vwa5b1	UTSW	4	138,321,641 (GRCm39)	missense	possibly damaging	0.69
R4635:Vwa5b1	UTSW	4	138,338,150 (GRCm39)	missense	possibly damaging	0.82
R4773:Vwa5b1	UTSW	4	138,309,066 (GRCm39)	missense	probably benign	0.01
R4832:Vwa5b1	UTSW	4	138,332,851 (GRCm39)	missense	probably damaging	1.00
R4906:Vwa5b1	UTSW	4	138,338,058 (GRCm39)	missense	probably benign	0.03
R4916:Vwa5b1	UTSW	4	138,321,573 (GRCm39)	missense	possibly damaging	0.81
R4995:Vwa5b1	UTSW	4	138,336,154 (GRCm39)	missense	probably damaging	1.00
R5573:Vwa5b1	UTSW	4	138,336,201 (GRCm39)	missense	probably damaging	1.00
R5872:Vwa5b1	UTSW	4	138,305,962 (GRCm39)	missense	possibly damaging	0.63
R6255:Vwa5b1	UTSW	4	138,305,983 (GRCm39)	missense	probably benign	0.00
R6811:Vwa5b1	UTSW	4	138,319,414 (GRCm39)	missense	probably benign	0.00
R6901:Vwa5b1	UTSW	4	138,313,880 (GRCm39)	missense	probably benign
R7144:Vwa5b1	UTSW	4	138,332,742 (GRCm39)	critical splice donor site	probably null
R7146:Vwa5b1	UTSW	4	138,308,923 (GRCm39)	missense	probably benign	0.00
R7159:Vwa5b1	UTSW	4	138,302,733 (GRCm39)	missense	possibly damaging	0.56
R7362:Vwa5b1	UTSW	4	138,321,623 (GRCm39)	missense	probably damaging	1.00
R7690:Vwa5b1	UTSW	4	138,318,244 (GRCm39)	missense	probably damaging	0.98
R7908:Vwa5b1	UTSW	4	138,296,481 (GRCm39)	nonsense	probably null
R7965:Vwa5b1	UTSW	4	138,332,800 (GRCm39)	missense	probably damaging	1.00
R8865:Vwa5b1	UTSW	4	138,308,530 (GRCm39)	missense	probably benign	0.02
R8866:Vwa5b1	UTSW	4	138,327,628 (GRCm39)	missense	probably damaging	1.00
R8872:Vwa5b1	UTSW	4	138,305,956 (GRCm39)	missense	probably damaging	1.00
R8889:Vwa5b1	UTSW	4	138,338,041 (GRCm39)	missense	probably benign	0.01
R9045:Vwa5b1	UTSW	4	138,315,990 (GRCm39)	missense	probably damaging	1.00
R9089:Vwa5b1	UTSW	4	138,296,742 (GRCm39)	missense	probably benign	0.08
R9273:Vwa5b1	UTSW	4	138,316,005 (GRCm39)	missense	probably damaging	1.00
R9366:Vwa5b1	UTSW	4	138,318,229 (GRCm39)	missense	probably damaging	0.97
R9450:Vwa5b1	UTSW	4	138,315,940 (GRCm39)	missense	possibly damaging	0.89
R9646:Vwa5b1	UTSW	4	138,319,420 (GRCm39)	missense	probably damaging	0.97
Z1177:Vwa5b1	UTSW	4	138,340,149 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACCTGGATGGGAAGAATATTAGGTC -3'
(R):5'- TGGAACACAGCTCAGCTAAC -3'

Sequencing Primer
(F):5'- CTCATCCTCTTGTCTTGAAGAAGGG -3'
(R):5'- CTCAGCTAACTACATCATTGAGTGGG -3'

Posted On

2014-06-23