Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03259:Vwa7'

414769

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Vwa7

Ensembl Gene

ENSMUSG00000007030

Gene Name

von Willebrand factor A domain containing 7

Synonyms

G7c, D17H6S56E-3

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

IGL03259

Quality Score

Status

Chromosome

Chromosomal Location

35235555-35245717 bp(+) (GRCm39)

Type of Mutation

splice site (3996 bp from exon)

DNA Base Change (assembly)

A to G at 35239002 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000133994 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000007245] [ENSMUST00000087315] [ENSMUST00000172499] [ENSMUST00000173584]

AlphaFold

Q9JHA8

Predicted Effect

probably damaging
Transcript: ENSMUST00000007245
AA Change: S326G

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

SMART Domains

Protein: ENSMUSP00000007245
Gene: ENSMUSG00000007030
AA Change: S326G

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
VWA	314	499	2.59e0	SMART
low complexity region	683	701	N/A	INTRINSIC
low complexity region	840	861	N/A	INTRINSIC
low complexity region	864	877	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000087315

SMART Domains

Protein: ENSMUSP00000084572
Gene: ENSMUSG00000007029

Domain	Start	End	E-Value	Type
Pfam:GST_N	2	81	5.7e-16	PFAM
Pfam:GST_C	107	198	7.3e-13	PFAM
low complexity region	234	256	N/A	INTRINSIC
low complexity region	261	271	N/A	INTRINSIC
Pfam:tRNA-synt_1	307	938	2e-197	PFAM
Pfam:tRNA-synt_1g	336	496	6e-6	PFAM
Pfam:tRNA-synt_1_2	555	623	1.9e-11	PFAM
Pfam:Anticodon_1	983	1138	2.6e-34	PFAM
low complexity region	1153	1174	N/A	INTRINSIC
low complexity region	1207	1225	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000172499
AA Change: S326G

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

SMART Domains

Protein: ENSMUSP00000133418
Gene: ENSMUSG00000007030
AA Change: S326G

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
VWA	314	478	7.28e0	SMART
low complexity region	662	680	N/A	INTRINSIC
low complexity region	819	840	N/A	INTRINSIC
low complexity region	843	856	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172637

Predicted Effect

probably null
Transcript: ENSMUST00000173142

SMART Domains

Protein: ENSMUSP00000134669
Gene: ENSMUSG00000007029

Domain	Start	End	E-Value	Type
SCOP:d1gaxa3	32	67	3e-7	SMART
PDB:1IYW\|B	36	122	4e-6	PDB

Predicted Effect

probably null
Transcript: ENSMUST00000173584

SMART Domains

Protein: ENSMUSP00000133994
Gene: ENSMUSG00000007029

Domain	Start	End	E-Value	Type
low complexity region	25	38	N/A	INTRINSIC
low complexity region	44	58	N/A	INTRINSIC
low complexity region	78	89	N/A	INTRINSIC
Pfam:GST_C	96	198	7.8e-14	PFAM
low complexity region	234	256	N/A	INTRINSIC
low complexity region	261	271	N/A	INTRINSIC
Pfam:tRNA-synt_1	307	938	1.9e-200	PFAM
Pfam:tRNA-synt_1g	336	493	2.1e-7	PFAM
Pfam:tRNA-synt_1_2	555	623	1.1e-12	PFAM
Pfam:Anticodon_1	983	1138	7.2e-36	PFAM
low complexity region	1153	1174	N/A	INTRINSIC
coiled coil region	1197	1225	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174084

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp8a1	T	C	5: 67,781,349 (GRCm39)		probably null	Het
Btbd3	T	C	2: 138,121,680 (GRCm39)	M121T	probably damaging	Het
Cep192	A	T	18: 67,953,483 (GRCm39)	N500I	probably damaging	Het
Clca4a	A	G	3: 144,663,841 (GRCm39)	L534P	probably damaging	Het
Cyp2d11	C	T	15: 82,274,221 (GRCm39)	V387M	probably damaging	Het
Dlgap3	T	C	4: 127,094,077 (GRCm39)	I443T	probably benign	Het
Heatr5b	T	A	17: 79,098,985 (GRCm39)	D1305V	probably damaging	Het
Hps5	G	T	7: 46,412,526 (GRCm39)	P1021Q	probably damaging	Het
Iqca1	T	C	1: 89,980,156 (GRCm39)	D637G	probably damaging	Het
Kank1	A	G	19: 25,407,705 (GRCm39)	D1233G	probably damaging	Het
Lad1	A	T	1: 135,755,394 (GRCm39)	R223S	probably benign	Het
Ms4a13	A	G	19: 11,161,210 (GRCm39)	S110P	probably damaging	Het
Nmd3	T	A	3: 69,652,576 (GRCm39)	D387E	possibly damaging	Het
Or1m1	A	G	9: 18,666,811 (GRCm39)	V40A	probably benign	Het
Or7a41	C	A	10: 78,871,234 (GRCm39)	Y201*	probably null	Het
Or8k3b	G	T	2: 86,520,894 (GRCm39)	Q142K	probably benign	Het
Pcgf5	T	A	19: 36,433,059 (GRCm39)	D234E	probably benign	Het
Pcnx2	T	A	8: 126,480,388 (GRCm39)	H1973L	probably benign	Het
Peak1	A	G	9: 56,167,251 (GRCm39)	F226L	probably damaging	Het
Pgp	A	G	17: 24,690,022 (GRCm39)	K180R	probably damaging	Het
Sdk1	A	T	5: 141,938,788 (GRCm39)	K404*	probably null	Het
Serinc5	T	A	13: 92,827,500 (GRCm39)	V272D	probably damaging	Het
Slc4a5	A	G	6: 83,247,979 (GRCm39)	H395R	probably damaging	Het
Spice1	T	A	16: 44,176,530 (GRCm39)	V40D	probably damaging	Het
Syne2	A	G	12: 76,035,853 (GRCm39)	I3713M	probably benign	Het
Vmn1r58	A	T	7: 5,414,086 (GRCm39)	L48*	probably null	Het

Other mutations in Vwa7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01103:Vwa7	APN	17	35,243,918 (GRCm39)	missense	probably damaging	1.00
IGL01736:Vwa7	APN	17	35,238,827 (GRCm39)	missense	probably damaging	1.00
IGL01868:Vwa7	APN	17	35,240,235 (GRCm39)	missense	probably null	0.96
IGL01920:Vwa7	APN	17	35,243,579 (GRCm39)	missense	probably benign	0.01
IGL02227:Vwa7	APN	17	35,239,060 (GRCm39)	missense	probably damaging	1.00
IGL02947:Vwa7	APN	17	35,242,476 (GRCm39)	splice site	probably null
IGL03263:Vwa7	APN	17	35,240,575 (GRCm39)	missense	probably benign	0.16
R0008:Vwa7	UTSW	17	35,238,781 (GRCm39)	missense	probably benign	0.33
R0057:Vwa7	UTSW	17	35,243,523 (GRCm39)	missense	possibly damaging	0.85
R0057:Vwa7	UTSW	17	35,243,523 (GRCm39)	missense	possibly damaging	0.85
R0418:Vwa7	UTSW	17	35,236,933 (GRCm39)	missense	possibly damaging	0.57
R0538:Vwa7	UTSW	17	35,241,627 (GRCm39)	missense	probably damaging	1.00
R1121:Vwa7	UTSW	17	35,236,770 (GRCm39)	missense	probably damaging	1.00
R1659:Vwa7	UTSW	17	35,238,047 (GRCm39)	missense	probably benign	0.04
R1766:Vwa7	UTSW	17	35,242,919 (GRCm39)	critical splice donor site	probably null
R1777:Vwa7	UTSW	17	35,243,924 (GRCm39)	missense	probably damaging	1.00
R1793:Vwa7	UTSW	17	35,243,388 (GRCm39)	nonsense	probably null
R1874:Vwa7	UTSW	17	35,236,088 (GRCm39)	missense	probably benign	0.00
R2139:Vwa7	UTSW	17	35,242,406 (GRCm39)	missense	probably benign	0.00
R2248:Vwa7	UTSW	17	35,238,019 (GRCm39)	missense	probably benign	0.04
R2290:Vwa7	UTSW	17	35,236,187 (GRCm39)	missense	probably damaging	1.00
R2869:Vwa7	UTSW	17	35,240,218 (GRCm39)	missense	probably damaging	1.00
R2869:Vwa7	UTSW	17	35,240,218 (GRCm39)	missense	probably damaging	1.00
R2870:Vwa7	UTSW	17	35,240,218 (GRCm39)	missense	probably damaging	1.00
R2870:Vwa7	UTSW	17	35,240,218 (GRCm39)	missense	probably damaging	1.00
R2871:Vwa7	UTSW	17	35,240,218 (GRCm39)	missense	probably damaging	1.00
R2871:Vwa7	UTSW	17	35,240,218 (GRCm39)	missense	probably damaging	1.00
R2873:Vwa7	UTSW	17	35,240,218 (GRCm39)	missense	probably damaging	1.00
R2874:Vwa7	UTSW	17	35,240,218 (GRCm39)	missense	probably damaging	1.00
R3038:Vwa7	UTSW	17	35,241,637 (GRCm39)	missense	probably damaging	1.00
R3792:Vwa7	UTSW	17	35,244,135 (GRCm39)	splice site	probably null
R3970:Vwa7	UTSW	17	35,236,684 (GRCm39)	missense	probably damaging	1.00
R4612:Vwa7	UTSW	17	35,242,426 (GRCm39)	missense	probably damaging	0.96
R5013:Vwa7	UTSW	17	35,241,709 (GRCm39)	missense	probably damaging	1.00
R5068:Vwa7	UTSW	17	35,243,166 (GRCm39)	missense	probably benign	0.25
R5069:Vwa7	UTSW	17	35,243,166 (GRCm39)	missense	probably benign	0.25
R5070:Vwa7	UTSW	17	35,243,166 (GRCm39)	missense	probably benign	0.25
R5137:Vwa7	UTSW	17	35,236,822 (GRCm39)	missense	probably damaging	1.00
R5384:Vwa7	UTSW	17	35,243,902 (GRCm39)	splice site	probably null
R6170:Vwa7	UTSW	17	35,240,186 (GRCm39)	missense	possibly damaging	0.56
R6229:Vwa7	UTSW	17	35,243,241 (GRCm39)	missense	probably benign	0.00
R6249:Vwa7	UTSW	17	35,242,365 (GRCm39)	missense	probably benign	0.00
R6401:Vwa7	UTSW	17	35,236,286 (GRCm39)	splice site	probably null
R6429:Vwa7	UTSW	17	35,243,175 (GRCm39)	missense	probably benign	0.32
R6678:Vwa7	UTSW	17	35,238,776 (GRCm39)	missense	probably damaging	1.00
R6793:Vwa7	UTSW	17	35,243,867 (GRCm39)	missense	probably benign	0.06
R6966:Vwa7	UTSW	17	35,236,072 (GRCm39)	missense	probably benign
R7492:Vwa7	UTSW	17	35,238,020 (GRCm39)	missense	possibly damaging	0.86
R7903:Vwa7	UTSW	17	35,236,763 (GRCm39)	missense	probably damaging	1.00
R7922:Vwa7	UTSW	17	35,243,409 (GRCm39)	missense	possibly damaging	0.81
R8191:Vwa7	UTSW	17	35,238,712 (GRCm39)	missense	probably damaging	0.96
R8728:Vwa7	UTSW	17	35,236,133 (GRCm39)	missense	probably damaging	1.00
R8961:Vwa7	UTSW	17	35,238,086 (GRCm39)	missense	probably damaging	1.00
R9037:Vwa7	UTSW	17	35,236,268 (GRCm39)	missense	probably benign	0.00
R9275:Vwa7	UTSW	17	35,238,712 (GRCm39)	missense	probably damaging	0.96

Posted On

2016-08-02