Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02379:Vwa5b1'

291290

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Vwa5b1

Ensembl Gene

ENSMUSG00000028753

Gene Name

von Willebrand factor A domain containing 5B1

Synonyms

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02379

Quality Score

Status

Chromosome

Chromosomal Location

138565360-138635884 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 138612859 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 29 (L29Q)

Ref Sequence

ENSEMBL: ENSMUSP00000030533 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000030533
AA Change: L29Q

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

SMART Domains

Protein: ENSMUSP00000030533
Gene: ENSMUSG00000028753
AA Change: L29Q

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 damaging
Transcript: ENSMUST00000105812
AA Change: L43Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000101438
Gene: ENSMUSG00000028753
AA Change: L43Q

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad10	T	A	5: 121,622,043	I996F	probably damaging	Het
Adamts9	T	A	6: 92,797,033	D1133V	probably damaging	Het
Adi1	T	A	12: 28,679,467	D106E	probably damaging	Het
Agl	A	G	3: 116,779,091	F837S	probably damaging	Het
Alb	T	A	5: 90,465,879	D207E	probably benign	Het
Alms1	T	G	6: 85,629,633	V2286G	probably damaging	Het
Alpl	G	A	4: 137,742,558	A485V	probably damaging	Het
Antxrl	C	A	14: 34,056,535		probably null	Het
Apc	C	T	18: 34,298,745	T417I	probably benign	Het
Ash2l	T	C	8: 25,822,771	D390G	probably damaging	Het
Asph	G	A	4: 9,474,980	P582S	probably damaging	Het
Bcr	T	A	10: 75,157,148	L825Q	probably benign	Het
Bhlha15	T	A	5: 144,191,341	N90K	probably damaging	Het
Cgnl1	T	A	9: 71,645,553	Y1043F	possibly damaging	Het
Chek1	T	C	9: 36,723,946	D47G	probably benign	Het
Clca4b	T	A	3: 144,921,858	M451L	probably benign	Het
Csnk1g3	T	C	18: 53,933,492	S346P	probably benign	Het
Cspg4	G	T	9: 56,892,609		probably benign	Het
Ctr9	A	G	7: 111,051,519	K884E	probably damaging	Het
Cyld	T	A	8: 88,744,928	C813*	probably null	Het
Fn3k	A	T	11: 121,435,124	T46S	probably benign	Het
Foxred1	T	C	9: 35,209,986	R89G	probably benign	Het
Gpr174	T	C	X: 107,293,478	F299L	probably damaging	Het
Hdac7	T	C	15: 97,808,385	D312G	probably damaging	Het
Il1f8	A	G	2: 24,154,638	S17G	probably benign	Het
Kcna5	G	T	6: 126,534,509	P219T	probably damaging	Het
Kcnh2	A	C	5: 24,326,638	V425G	probably damaging	Het
Klk5	A	G	7: 43,850,822	N278S	probably damaging	Het
Mars2	T	A	1: 55,238,053	W272R	probably damaging	Het
Msl3l2	C	A	10: 56,115,921	S247R	possibly damaging	Het
Myh7	T	C	14: 54,979,468	E1144G	probably damaging	Het
Nefm	T	C	14: 68,120,239		probably benign	Het
Nwd2	A	G	5: 63,805,301	K743E	probably damaging	Het
Nyap2	C	T	1: 81,087,430	T53I	probably damaging	Het
Olfr1124	T	C	2: 87,435,324	V279A	probably benign	Het
Olfr617	T	C	7: 103,584,892	V290A	possibly damaging	Het
Peli2	A	G	14: 48,168,298	H60R	probably damaging	Het
Pias2	T	A	18: 77,145,148		probably benign	Het
Pik3c2b	A	G	1: 133,094,791	D1157G	probably damaging	Het
Pip4k2a	C	T	2: 18,866,111		probably null	Het
Raf1	A	T	6: 115,644,548	D23E	probably benign	Het
Rhox10	G	A	X: 38,066,856	R87H	probably benign	Het
Rpgrip1	A	G	14: 52,138,888	T449A	possibly damaging	Het
Serpina3a	T	A	12: 104,118,660	S105T	probably benign	Het
Slc12a9	T	G	5: 137,321,429	Q608P	probably damaging	Het
Smg6	C	A	11: 75,053,925	P167T	probably damaging	Het
Spata7	C	T	12: 98,634,260	T44I	probably damaging	Het
Spink12	C	T	18: 44,106,508		probably benign	Het
Srrm1	G	A	4: 135,325,104	P658L	unknown	Het
Stag2	C	T	X: 42,250,597	T754I	probably benign	Het
Supt6	C	T	11: 78,225,369	V723M	possibly damaging	Het
Ttc25	A	T	11: 100,566,983	N471Y	possibly damaging	Het
Ubr3	A	G	2: 69,948,488	D614G	possibly damaging	Het
Vps39	T	A	2: 120,323,608	K624N	probably benign	Het
Wtap	G	A	17: 12,969,449	A188V	probably benign	Het
Zc3hc1	A	G	6: 30,390,975	F5L	probably benign	Het
Zfp655	C	T	5: 145,243,955	P208S	probably benign	Het
Zswim3	A	T	2: 164,820,682		probably null	Het

Other mutations in Vwa5b1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01952:Vwa5b1	APN	4	138581217	missense	probably benign	0.08
IGL02133:Vwa5b1	APN	4	138586557	critical splice donor site	probably null
IGL02671:Vwa5b1	APN	4	138569126	nonsense	probably null
IGL02864:Vwa5b1	APN	4	138608975	missense	probably benign	0.00
IGL03076:Vwa5b1	APN	4	138600188	missense	probably damaging	1.00
IGL03115:Vwa5b1	APN	4	138600149	missense	possibly damaging	0.93
IGL03119:Vwa5b1	APN	4	138606541	missense	probably benign	0.01
PIT4283001:Vwa5b1	UTSW	4	138600263	missense	probably damaging	1.00
R0114:Vwa5b1	UTSW	4	138608858	nonsense	probably null
R0157:Vwa5b1	UTSW	4	138604879	missense	probably benign	0.00
R0528:Vwa5b1	UTSW	4	138594351	missense	probably damaging	1.00
R0562:Vwa5b1	UTSW	4	138635711	splice site	probably benign
R0718:Vwa5b1	UTSW	4	138608824	missense	probably damaging	1.00
R1555:Vwa5b1	UTSW	4	138605477	missense	probably benign	0.02
R1573:Vwa5b1	UTSW	4	138604873	missense	probably damaging	1.00
R1857:Vwa5b1	UTSW	4	138569102	missense	probably damaging	1.00
R1883:Vwa5b1	UTSW	4	138575389	missense	probably damaging	0.96
R1906:Vwa5b1	UTSW	4	138600236	missense	possibly damaging	0.93
R1913:Vwa5b1	UTSW	4	138592020	nonsense	probably null
R2121:Vwa5b1	UTSW	4	138588569	missense	probably benign	0.00
R2213:Vwa5b1	UTSW	4	138604812	missense	probably benign	0.00
R2355:Vwa5b1	UTSW	4	138591910	critical splice donor site	probably null
R2655:Vwa5b1	UTSW	4	138594303	missense	probably damaging	1.00
R4134:Vwa5b1	UTSW	4	138594330	missense	possibly damaging	0.69
R4135:Vwa5b1	UTSW	4	138594330	missense	possibly damaging	0.69
R4635:Vwa5b1	UTSW	4	138610839	missense	possibly damaging	0.82
R4773:Vwa5b1	UTSW	4	138581755	missense	probably benign	0.01
R4832:Vwa5b1	UTSW	4	138605540	missense	probably damaging	1.00
R4906:Vwa5b1	UTSW	4	138610747	missense	probably benign	0.03
R4916:Vwa5b1	UTSW	4	138594262	missense	possibly damaging	0.81
R4995:Vwa5b1	UTSW	4	138608843	missense	probably damaging	1.00
R5573:Vwa5b1	UTSW	4	138608890	missense	probably damaging	1.00
R5872:Vwa5b1	UTSW	4	138578651	missense	possibly damaging	0.63
R6255:Vwa5b1	UTSW	4	138578672	missense	probably benign	0.00
R6811:Vwa5b1	UTSW	4	138592103	missense	probably benign	0.00
R6901:Vwa5b1	UTSW	4	138586569	missense	probably benign
R7144:Vwa5b1	UTSW	4	138605431	critical splice donor site	probably null
R7146:Vwa5b1	UTSW	4	138581612	missense	probably benign	0.00
R7159:Vwa5b1	UTSW	4	138575422	missense	possibly damaging	0.56
R7362:Vwa5b1	UTSW	4	138594312	missense	probably damaging	1.00
R7690:Vwa5b1	UTSW	4	138590933	missense	probably damaging	0.98
R7908:Vwa5b1	UTSW	4	138569170	nonsense	probably null
R7965:Vwa5b1	UTSW	4	138605489	missense	probably damaging	1.00
Z1177:Vwa5b1	UTSW	4	138612838	missense	probably damaging	1.00

Posted On

2015-04-16