Mutagenetix > Incidental Mutation

Incidental Mutation 'R2870:Vwa7'

253640

Institutional Source

Beutler Lab

Gene Symbol

Vwa7

Ensembl Gene

ENSMUSG00000007030

Gene Name

von Willebrand factor A domain containing 7

Synonyms

G7c, D17H6S56E-3

MMRRC Submission

040458-MU

Accession Numbers

Essential gene?

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

Stock #

R2870 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

35235555-35245717 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 35240218 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 395 (M395I)

Ref Sequence

ENSEMBL: ENSMUSP00000133418 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000007245] [ENSMUST00000040151] [ENSMUST00000087315] [ENSMUST00000172499] [ENSMUST00000174037]

AlphaFold

Q9JHA8

Predicted Effect

probably damaging
Transcript: ENSMUST00000007245
AA Change: M395I

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

SMART Domains

Protein: ENSMUSP00000007245
Gene: ENSMUSG00000007030
AA Change: M395I

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 benign
Transcript: ENSMUST00000040151

SMART Domains

Protein: ENSMUSP00000047448
Gene: ENSMUSG00000036185

Domain	Start	End	E-Value	Type
Pfam:Suppressor_APC	35	114	2.1e-28	PFAM

Predicted Effect

probably benign
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: M395I

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

SMART Domains

Protein: ENSMUSP00000133418
Gene: ENSMUSG00000007030
AA Change: M395I

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

noncoding transcript
Transcript: ENSMUST00000173211

Predicted Effect

probably benign
Transcript: ENSMUST00000174037

SMART Domains

Protein: ENSMUSP00000133881
Gene: ENSMUSG00000036185

Domain	Start	End	E-Value	Type
low complexity region	55	65	N/A	INTRINSIC
low complexity region	70	84	N/A	INTRINSIC

Meta Mutation Damage Score

0.4728

Coding Region Coverage

1x: 99.6%
3x: 98.5%
10x: 94.1%
20x: 79.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actrt3	A	G	3: 30,653,847 (GRCm39)	V51A	probably damaging	Het
Adgb	C	T	10: 10,307,025 (GRCm39)		probably null	Het
Als2	A	G	1: 59,250,296 (GRCm39)	S483P	probably damaging	Het
Ankrd10	C	T	8: 11,665,682 (GRCm39)	R306H	probably damaging	Het
Arhgef10	T	C	8: 15,025,093 (GRCm39)		probably null	Het
Arhgef10	A	G	8: 15,025,666 (GRCm39)	I459V	probably benign	Het
Armc2	C	T	10: 41,842,696 (GRCm39)		probably null	Het
Atp12a	A	G	14: 56,624,407 (GRCm39)	R952G	possibly damaging	Het
Atp6v1g1	A	G	4: 63,468,258 (GRCm39)	Y87C	probably benign	Het
Cacna2d1	G	A	5: 16,517,566 (GRCm39)	C404Y	probably damaging	Het
Ccdc59	A	T	10: 105,677,388 (GRCm39)	K9M	possibly damaging	Het
Cd6	A	G	19: 10,771,990 (GRCm39)	I307T	possibly damaging	Het
Cimap1d	G	A	10: 79,481,487 (GRCm39)	T14I	probably benign	Het
Clasrp	C	A	7: 19,319,165 (GRCm39)		probably benign	Het
Csmd2	T	C	4: 128,451,511 (GRCm39)	F113S	unknown	Het
Csmd3	C	T	15: 47,721,320 (GRCm39)	G1437D	probably damaging	Het
Cyp4a14	C	A	4: 115,344,498 (GRCm39)	G456W	probably damaging	Het
Cyp4a30b	A	G	4: 115,315,559 (GRCm39)	H260R	possibly damaging	Het
Dcp1b	C	T	6: 119,191,735 (GRCm39)	S217L	probably benign	Het
Dennd2b	A	T	7: 109,156,637 (GRCm39)	Y38N	probably benign	Het
Dhx57	A	T	17: 80,558,805 (GRCm39)	D1051E	probably benign	Het
Dmp1	A	G	5: 104,359,974 (GRCm39)	S217G	probably benign	Het
Eef2	GCCC	GCCCC	10: 81,014,601 (GRCm39)		probably null	Het
Eif4enif1	C	T	11: 3,192,586 (GRCm39)	P805S	probably damaging	Het
Eral1	A	G	11: 77,967,104 (GRCm39)	I164T	possibly damaging	Het
Esr1	G	A	10: 4,947,890 (GRCm39)	R481H	probably damaging	Het
Fan1	A	G	7: 64,012,938 (GRCm39)	I668T	probably benign	Het
Gbp11	C	T	5: 105,478,866 (GRCm39)	D191N	probably benign	Het
Gria2	G	A	3: 80,609,799 (GRCm39)	T670I	probably damaging	Het
Gria4	T	A	9: 4,503,614 (GRCm39)	N334I	probably damaging	Het
Grm5	T	C	7: 87,251,930 (GRCm39)	V60A	possibly damaging	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Ift172	C	T	5: 31,415,205 (GRCm39)	V1335I	probably benign	Het
Ino80d	C	T	1: 63,100,198 (GRCm39)		probably null	Het
Kif1c	A	G	11: 70,614,907 (GRCm39)	E567G	probably damaging	Het
Krt31	T	G	11: 99,938,699 (GRCm39)	N298T	possibly damaging	Het
Matr3	T	A	18: 35,705,349 (GRCm39)	S91R	probably benign	Het
Mdm1	A	G	10: 117,986,847 (GRCm39)	T267A	probably benign	Het
Mlxip	A	G	5: 123,590,730 (GRCm39)	M878V	probably benign	Het
Mmp1b	A	T	9: 7,386,875 (GRCm39)		silent	Het
Mroh2a	GCCC	GC	1: 88,159,979 (GRCm39)		probably null	Het
Mtor	T	A	4: 148,624,487 (GRCm39)	M2089K	probably benign	Het
Mylk2	A	G	2: 152,761,268 (GRCm39)	K457R	probably damaging	Het
Nomo1	C	A	7: 45,696,361 (GRCm39)	T293N	probably damaging	Het
Or10g1	T	G	14: 52,648,318 (GRCm39)	T4P	probably benign	Het
Or6c211	A	T	10: 129,505,628 (GRCm39)	C253*	probably null	Het
Or8k33	T	C	2: 86,383,928 (GRCm39)	D180G	possibly damaging	Het
Ostc	T	C	3: 130,497,157 (GRCm39)	N80S	probably damaging	Het
Otud4	T	A	8: 80,387,702 (GRCm39)	N300K	possibly damaging	Het
Palmd	T	C	3: 116,717,400 (GRCm39)	R366G	possibly damaging	Het
Pcdhb20	A	T	18: 37,638,833 (GRCm39)	Q453L	possibly damaging	Het
Pcdhga9	T	A	18: 37,870,524 (GRCm39)	Y118N	possibly damaging	Het
Pes1	C	A	11: 3,926,834 (GRCm39)	T372K	probably benign	Het
Plcl1	A	T	1: 55,736,309 (GRCm39)	D550V	probably benign	Het
Plekhg5	T	A	4: 152,191,960 (GRCm39)	C433S	probably benign	Het
Plin2	A	G	4: 86,586,915 (GRCm39)	M1T	probably null	Het
Ppp1r7	T	A	1: 93,285,585 (GRCm39)		probably null	Het
Psmb8	T	C	17: 34,419,144 (GRCm39)	I146T	probably damaging	Het
Pzp	A	T	6: 128,462,519 (GRCm39)		probably null	Het
Rel	T	C	11: 23,711,129 (GRCm39)	I13V	probably benign	Het
Reln	C	T	5: 22,254,789 (GRCm39)	V527I	possibly damaging	Het
Retnla	A	G	16: 48,663,975 (GRCm39)	R90G	probably benign	Het
Semp2l2b	A	T	10: 21,943,278 (GRCm39)	I234N	probably benign	Het
Shoc1	A	C	4: 59,093,850 (GRCm39)	L226R	probably damaging	Het
Slc39a8	T	A	3: 135,592,554 (GRCm39)		probably null	Het
Slc5a8	A	G	10: 88,740,825 (GRCm39)	I247V	probably benign	Het
Spcs2	T	C	7: 99,488,968 (GRCm39)	D240G	probably damaging	Het
Stx3	A	T	19: 11,766,938 (GRCm39)	V91D	probably damaging	Het
Tafa2	A	T	10: 123,540,270 (GRCm39)	H42L	possibly damaging	Het
Tbc1d8	A	G	1: 39,444,398 (GRCm39)	F187S	probably damaging	Het
Thbs1	C	G	2: 117,949,859 (GRCm39)	N611K	probably damaging	Het
Tipin	A	C	9: 64,211,609 (GRCm39)	S232R	probably benign	Het
Tmem132b	A	G	5: 125,715,332 (GRCm39)	D347G	probably benign	Het
Vmn2r68	A	C	7: 84,882,834 (GRCm39)	M306R	probably benign	Het
Ybx3	G	A	6: 131,347,376 (GRCm39)	A253V	probably damaging	Het
Zfp53	A	T	17: 21,728,340 (GRCm39)	E124D	probably benign	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
IGL03259:Vwa7	APN	17	35,239,002 (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
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

Predicted Primers

PCR Primer
(F):5'- GAGCCTCTCAGGTGAGTTCTATC -3'
(R):5'- ACCCTGGAAGGAAGCTGATG -3'

Sequencing Primer
(F):5'- GTTCAGCAGCTAAGAGTACTTGC -3'
(R):5'- CTGGAAGGAAGCTGATGGAACC -3'

Posted On

2014-12-04