Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01719:Vwa5b2'

105042

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Vwa5b2

Ensembl Gene

ENSMUSG00000046613

Gene Name

von Willebrand factor A domain containing 5B2

Synonyms

EG328644

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.131) question?

Stock #

IGL01719

Quality Score

Status

Chromosome

Chromosomal Location

20408221-20424127 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 20416183 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000123727 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000096197] [ENSMUST00000100074] [ENSMUST00000149236] [ENSMUST00000159780]

AlphaFold

Q3UR50

Predicted Effect

probably null
Transcript: ENSMUST00000096197

SMART Domains

Protein: ENSMUSP00000093911
Gene: ENSMUSG00000046613

Domain	Start	End	E-Value	Type
Pfam:VIT_2	2	79	7.3e-31	PFAM
VWA	352	521	3.16e-1	SMART
low complexity region	684	706	N/A	INTRINSIC
low complexity region	725	733	N/A	INTRINSIC
low complexity region	744	764	N/A	INTRINSIC
low complexity region	780	797	N/A	INTRINSIC
low complexity region	823	833	N/A	INTRINSIC
low complexity region	1032	1046	N/A	INTRINSIC
low complexity region	1127	1145	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000100074

SMART Domains

Protein: ENSMUSP00000097652
Gene: ENSMUSG00000046613

Domain	Start	End	E-Value	Type
Pfam:VIT_2	2	79	1.9e-31	PFAM
VWA	352	521	3.16e-1	SMART
low complexity region	572	586	N/A	INTRINSIC
low complexity region	587	602	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000149236

SMART Domains

Protein: ENSMUSP00000124117
Gene: ENSMUSG00000046613

Domain	Start	End	E-Value	Type
Pfam:VIT_2	2	79	7.9e-32	PFAM
Blast:VWA	352	408	2e-26	BLAST

Predicted Effect

probably null
Transcript: ENSMUST00000159780

SMART Domains

Protein: ENSMUSP00000123727
Gene: ENSMUSG00000046613

Domain	Start	End	E-Value	Type
Pfam:VIT_2	2	79	5.5e-31	PFAM
VWA	352	521	3.16e-1	SMART
low complexity region	684	706	N/A	INTRINSIC
low complexity region	725	733	N/A	INTRINSIC
low complexity region	744	764	N/A	INTRINSIC
low complexity region	780	797	N/A	INTRINSIC
low complexity region	823	833	N/A	INTRINSIC
low complexity region	1032	1046	N/A	INTRINSIC
low complexity region	1127	1145	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alms1	G	A	6: 85,605,076 (GRCm39)	R1773Q	probably benign	Het
Ankk1	A	G	9: 49,328,081 (GRCm39)	V366A	probably benign	Het
Antxr2	C	T	5: 98,096,132 (GRCm39)	R384Q	possibly damaging	Het
Cdh13	G	A	8: 119,401,927 (GRCm39)	V110M	probably benign	Het
Ctnna2	T	A	6: 77,613,958 (GRCm39)	K198*	probably null	Het
Dpf3	C	A	12: 83,341,207 (GRCm39)	S223I	probably damaging	Het
Galnt5	A	G	2: 57,888,555 (GRCm39)	R52G	probably damaging	Het
Gm4787	G	A	12: 81,423,948 (GRCm39)	R737C	possibly damaging	Het
Grin2b	T	A	6: 135,710,379 (GRCm39)	I1056F	probably damaging	Het
H2al2a	T	A	2: 18,001,446 (GRCm39)	H80L	probably damaging	Het
Hipk3	T	C	2: 104,267,434 (GRCm39)	H601R	possibly damaging	Het
Hivep2	T	C	10: 14,006,267 (GRCm39)	L955P	probably damaging	Het
Jund	C	T	8: 71,151,885 (GRCm39)	A60V	possibly damaging	Het
Klhdc7a	A	G	4: 139,693,861 (GRCm39)	L362P	probably damaging	Het
Lpar5	T	G	6: 125,058,969 (GRCm39)	V230G	possibly damaging	Het
Lrba	C	T	3: 86,234,903 (GRCm39)		probably benign	Het
Or11g24	T	C	14: 50,662,018 (GRCm39)	F14S	possibly damaging	Het
Pcdhb5	T	G	18: 37,454,075 (GRCm39)	S152A	probably benign	Het
Plekha5	A	C	6: 140,515,855 (GRCm39)	E702D	probably damaging	Het
Ppt1	A	G	4: 122,737,860 (GRCm39)	Y66C	probably damaging	Het
S1pr5	C	A	9: 21,155,250 (GRCm39)	R392L	probably benign	Het
Slc37a2	T	C	9: 37,145,474 (GRCm39)	T410A	probably damaging	Het
St18	A	G	1: 6,916,020 (GRCm39)		probably benign	Het
Taar7d	T	A	10: 23,903,865 (GRCm39)	M249K	probably benign	Het
Zan	T	A	5: 137,393,916 (GRCm39)	T4512S	unknown	Het

Other mutations in Vwa5b2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01307:Vwa5b2	APN	16	20,423,020 (GRCm39)	missense	probably benign
IGL01543:Vwa5b2	APN	16	20,414,466 (GRCm39)	missense	probably benign	0.02
IGL02006:Vwa5b2	APN	16	20,415,843 (GRCm39)	missense	probably damaging	0.97
IGL02150:Vwa5b2	APN	16	20,423,576 (GRCm39)	missense	probably benign
IGL02301:Vwa5b2	APN	16	20,423,540 (GRCm39)	missense	probably damaging	1.00
IGL02373:Vwa5b2	APN	16	20,423,594 (GRCm39)	missense	probably damaging	0.99
IGL02413:Vwa5b2	APN	16	20,416,851 (GRCm39)	missense	probably damaging	1.00
IGL02664:Vwa5b2	APN	16	20,414,063 (GRCm39)	unclassified	probably benign
R1171:Vwa5b2	UTSW	16	20,423,734 (GRCm39)	missense	probably benign
R1405:Vwa5b2	UTSW	16	20,423,066 (GRCm39)	missense	probably benign	0.00
R1405:Vwa5b2	UTSW	16	20,423,066 (GRCm39)	missense	probably benign	0.00
R1464:Vwa5b2	UTSW	16	20,415,019 (GRCm39)	missense	probably benign	0.08
R1464:Vwa5b2	UTSW	16	20,415,019 (GRCm39)	missense	probably benign	0.08
R1730:Vwa5b2	UTSW	16	20,419,675 (GRCm39)	missense	probably damaging	1.00
R1901:Vwa5b2	UTSW	16	20,423,582 (GRCm39)	missense	possibly damaging	0.77
R1902:Vwa5b2	UTSW	16	20,423,582 (GRCm39)	missense	possibly damaging	0.77
R1903:Vwa5b2	UTSW	16	20,423,582 (GRCm39)	missense	possibly damaging	0.77
R1959:Vwa5b2	UTSW	16	20,420,941 (GRCm39)	critical splice donor site	probably null
R1961:Vwa5b2	UTSW	16	20,420,941 (GRCm39)	critical splice donor site	probably null
R3522:Vwa5b2	UTSW	16	20,420,358 (GRCm39)	missense	probably damaging	0.99
R3687:Vwa5b2	UTSW	16	20,410,308 (GRCm39)	unclassified	probably benign
R3746:Vwa5b2	UTSW	16	20,417,076 (GRCm39)	intron	probably benign
R3747:Vwa5b2	UTSW	16	20,417,076 (GRCm39)	intron	probably benign
R3749:Vwa5b2	UTSW	16	20,417,076 (GRCm39)	intron	probably benign
R3952:Vwa5b2	UTSW	16	20,417,111 (GRCm39)	makesense	probably null
R4641:Vwa5b2	UTSW	16	20,423,393 (GRCm39)	missense	probably damaging	1.00
R4646:Vwa5b2	UTSW	16	20,415,079 (GRCm39)	missense	probably damaging	1.00
R4772:Vwa5b2	UTSW	16	20,419,553 (GRCm39)	splice site	probably null
R5032:Vwa5b2	UTSW	16	20,419,459 (GRCm39)	missense	probably damaging	1.00
R5286:Vwa5b2	UTSW	16	20,415,058 (GRCm39)	missense	probably damaging	1.00
R5569:Vwa5b2	UTSW	16	20,414,089 (GRCm39)	missense	probably damaging	1.00
R5585:Vwa5b2	UTSW	16	20,413,428 (GRCm39)	nonsense	probably null
R5640:Vwa5b2	UTSW	16	20,416,292 (GRCm39)	missense	probably damaging	1.00
R6330:Vwa5b2	UTSW	16	20,420,727 (GRCm39)	missense	probably damaging	1.00
R6459:Vwa5b2	UTSW	16	20,413,429 (GRCm39)	missense	probably damaging	0.98
R6992:Vwa5b2	UTSW	16	20,416,952 (GRCm39)	missense	probably damaging	1.00
R7102:Vwa5b2	UTSW	16	20,422,984 (GRCm39)	missense	probably benign	0.00
R7231:Vwa5b2	UTSW	16	20,422,878 (GRCm39)	missense	probably benign	0.00
R7591:Vwa5b2	UTSW	16	20,420,317 (GRCm39)	missense	probably damaging	0.96
R7765:Vwa5b2	UTSW	16	20,413,361 (GRCm39)	missense	probably benign
R8269:Vwa5b2	UTSW	16	20,423,188 (GRCm39)	missense	probably damaging	1.00
R8311:Vwa5b2	UTSW	16	20,409,972 (GRCm39)	missense	probably damaging	1.00
R8707:Vwa5b2	UTSW	16	20,412,965 (GRCm39)	missense	probably benign	0.01
R8716:Vwa5b2	UTSW	16	20,415,026 (GRCm39)	missense	probably benign	0.00
R8815:Vwa5b2	UTSW	16	20,419,516 (GRCm39)	missense	probably damaging	1.00
R8965:Vwa5b2	UTSW	16	20,415,076 (GRCm39)	missense	possibly damaging	0.72
R9245:Vwa5b2	UTSW	16	20,416,890 (GRCm39)	missense	probably damaging	1.00
R9431:Vwa5b2	UTSW	16	20,423,046 (GRCm39)	missense	probably benign	0.00
R9536:Vwa5b2	UTSW	16	20,414,449 (GRCm39)	missense	probably damaging	1.00
R9695:Vwa5b2	UTSW	16	20,422,975 (GRCm39)	missense	probably benign
R9727:Vwa5b2	UTSW	16	20,423,477 (GRCm39)	missense	probably damaging	1.00
Z1176:Vwa5b2	UTSW	16	20,410,003 (GRCm39)	missense	probably damaging	0.99
Z1177:Vwa5b2	UTSW	16	20,419,401 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-01-21