Mutagenetix > Incidental Mutations

Incidental Mutation 'R2869:Vwa7'

266463

Institutional Source

Beutler Lab

Gene Symbol

Vwa7

Ensembl Gene

ENSMUSG00000007030

Gene Name

von Willebrand factor A domain containing 7

Synonyms

D17H6S56E-3, G7c

MMRRC Submission

040457-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.050) question?

Stock #

R2869 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

35016579-35026741 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 35021242 bp

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]

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: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Als2	A	G	1: 59,211,137	S483P	probably damaging	Het
C030034I22Rik	T	A	17: 69,418,111		noncoding transcript	Het
Carmil1	G	A	13: 24,045,068		silent	Het
Ccl27a	C	T	4: 41,769,640	R73Q	probably benign	Het
Cd6	A	G	19: 10,794,626	I307T	possibly damaging	Het
Dhx57	A	T	17: 80,251,376	D1051E	probably benign	Het
Eif4enif1	C	T	11: 3,242,586	P805S	probably damaging	Het
Fam19a2	A	T	10: 123,704,365	H42L	possibly damaging	Het
Fan1	A	G	7: 64,363,190	I668T	probably benign	Het
Frmpd4	A	T	X: 167,477,247	D1166E	probably benign	Homo
Gbp11	C	T	5: 105,331,000	D191N	probably benign	Het
Ggt6	A	T	11: 72,437,361	N229I	probably benign	Het
Gm26902	T	A	19: 34,474,810	H106L	probably benign	Het
Gm37340	G	A	2: 6,950,928		probably benign	Het
Gm9874	A	T	17: 30,485,789		probably benign	Het
Gria2	G	A	3: 80,702,492	T670I	probably damaging	Het
Gsdme	A	T	6: 50,208,177	C432*	probably null	Het
Habp2	T	A	19: 56,287,991		probably benign	Het
Hmcn1	A	T	1: 150,738,716	V1313D	possibly damaging	Het
Kcnb1	A	G	2: 167,105,935	L331P	probably damaging	Het
Klf8	A	T	X: 153,382,682	E82D	probably damaging	Homo
Krt13	A	G	11: 100,117,649	S421P	unknown	Het
Lactbl1	G	A	4: 136,626,786	C37Y	probably damaging	Het
Lzts2	C	A	19: 45,024,095	S321*	probably null	Het
March8	C	T	6: 116,401,145		probably benign	Het
Meikin	T	C	11: 54,373,507	V103A	possibly damaging	Het
Mki67	G	A	7: 135,708,149	P191L	probably benign	Het
Mlxip	A	G	5: 123,452,667	M878V	probably benign	Het
Mpp7	G	A	18: 7,461,678	P65L	possibly damaging	Het
Myo9b	G	A	8: 71,334,337	R721Q	probably benign	Het
Nav1	A	G	1: 135,460,757		silent	Het
Nbn	T	A	4: 15,963,810	D70E	probably damaging	Het
Nell1	A	T	7: 50,249,657		probably benign	Het
Nomo1	C	A	7: 46,046,937	T293N	probably damaging	Het
Notum	A	G	11: 120,660,196	V48A	probably benign	Het
Nwd2	A	T	5: 63,800,328	I334L	probably benign	Het
Olfr419	T	C	1: 174,250,526	S134G	probably benign	Het
Olfr730	T	C	14: 50,186,354	T288A	probably benign	Het
Olfr801	A	T	10: 129,669,759	C253*	probably null	Het
Ostc	T	C	3: 130,703,508	N80S	probably damaging	Het
Otud4	T	A	8: 79,661,073	N300K	possibly damaging	Het
Palmd	T	C	3: 116,923,751	R366G	possibly damaging	Het
Parp1	A	G	1: 180,573,665	D45G	probably damaging	Het
Pes1	C	A	11: 3,976,834	T372K	probably benign	Het
Plcl1	A	T	1: 55,697,150	D550V	probably benign	Het
Ppp1r7	T	A	1: 93,357,863		probably null	Het
Prdx4	A	G	X: 155,340,464	V15A	probably benign	Homo
Psmb8	T	C	17: 34,200,170	I146T	probably damaging	Het
Psmd13	A	T	7: 140,887,055	T116S	probably damaging	Het
Pzp	A	T	6: 128,485,556		probably null	Het
Serinc2	A	G	4: 130,265,212	S29P	probably damaging	Het
Slc39a8	T	A	3: 135,886,793		probably null	Het
Sppl2c	C	T	11: 104,187,315	P314S	probably benign	Het
St5	A	T	7: 109,557,430	Y38N	probably benign	Het
St7	C	T	6: 17,819,277	P60L	probably damaging	Het
Stx3	A	T	19: 11,789,574	V91D	probably damaging	Het
Taf6l	A	G	19: 8,778,628		probably benign	Het
Tnni3k	C	T	3: 154,938,750		probably null	Het
Tprg	T	C	16: 25,412,840	W189R	probably damaging	Het
Trim32	A	G	4: 65,614,457	D417G	probably damaging	Het
Vmn2r68	A	C	7: 85,233,626	M306R	probably benign	Het
Ybx3	G	A	6: 131,370,413	A253V	probably damaging	Het
Zfp53	A	T	17: 21,508,078	E124D	probably benign	Het
Zzz3	T	A	3: 152,446,844		silent	Het

Other mutations in Vwa7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01103:Vwa7	APN	17	35024942	missense	probably damaging	1.00
IGL01736:Vwa7	APN	17	35019851	missense	probably damaging	1.00
IGL01868:Vwa7	APN	17	35021259	missense	probably null	0.96
IGL01920:Vwa7	APN	17	35024603	missense	probably benign	0.01
IGL02227:Vwa7	APN	17	35020084	missense	probably damaging	1.00
IGL02947:Vwa7	APN	17	35023500	splice site	probably null
IGL03259:Vwa7	APN	17	35020026	splice site	probably null
IGL03263:Vwa7	APN	17	35021599	missense	probably benign	0.16
R0008:Vwa7	UTSW	17	35019805	missense	probably benign	0.33
R0057:Vwa7	UTSW	17	35024547	missense	possibly damaging	0.85
R0057:Vwa7	UTSW	17	35024547	missense	possibly damaging	0.85
R0418:Vwa7	UTSW	17	35017957	missense	possibly damaging	0.57
R0538:Vwa7	UTSW	17	35022651	missense	probably damaging	1.00
R1121:Vwa7	UTSW	17	35017794	missense	probably damaging	1.00
R1659:Vwa7	UTSW	17	35019071	missense	probably benign	0.04
R1766:Vwa7	UTSW	17	35023943	critical splice donor site	probably null
R1777:Vwa7	UTSW	17	35024948	missense	probably damaging	1.00
R1793:Vwa7	UTSW	17	35024412	nonsense	probably null
R1874:Vwa7	UTSW	17	35017112	missense	probably benign	0.00
R2139:Vwa7	UTSW	17	35023430	missense	probably benign	0.00
R2248:Vwa7	UTSW	17	35019043	missense	probably benign	0.04
R2290:Vwa7	UTSW	17	35017211	missense	probably damaging	1.00
R2869:Vwa7	UTSW	17	35021242	missense	probably damaging	1.00
R2870:Vwa7	UTSW	17	35021242	missense	probably damaging	1.00
R2870:Vwa7	UTSW	17	35021242	missense	probably damaging	1.00
R2871:Vwa7	UTSW	17	35021242	missense	probably damaging	1.00
R2871:Vwa7	UTSW	17	35021242	missense	probably damaging	1.00
R2873:Vwa7	UTSW	17	35021242	missense	probably damaging	1.00
R2874:Vwa7	UTSW	17	35021242	missense	probably damaging	1.00
R3038:Vwa7	UTSW	17	35022661	missense	probably damaging	1.00
R3792:Vwa7	UTSW	17	35025159	splice site	probably null
R3970:Vwa7	UTSW	17	35017708	missense	probably damaging	1.00
R4612:Vwa7	UTSW	17	35023450	missense	probably damaging	0.96
R5013:Vwa7	UTSW	17	35022733	missense	probably damaging	1.00
R5068:Vwa7	UTSW	17	35024190	missense	probably benign	0.25
R5069:Vwa7	UTSW	17	35024190	missense	probably benign	0.25
R5070:Vwa7	UTSW	17	35024190	missense	probably benign	0.25
R5137:Vwa7	UTSW	17	35017846	missense	probably damaging	1.00
R5384:Vwa7	UTSW	17	35024926	splice site	probably null
R6170:Vwa7	UTSW	17	35021210	missense	possibly damaging	0.56
R6229:Vwa7	UTSW	17	35024265	missense	probably benign	0.00
R6249:Vwa7	UTSW	17	35023389	missense	probably benign	0.00
R6401:Vwa7	UTSW	17	35017310	splice site	probably null
R6429:Vwa7	UTSW	17	35024199	missense	probably benign	0.32
R6678:Vwa7	UTSW	17	35019800	missense	probably damaging	1.00
R6793:Vwa7	UTSW	17	35024891	missense	probably benign	0.06
R6966:Vwa7	UTSW	17	35017096	missense	probably benign
R7492:Vwa7	UTSW	17	35019044	missense	possibly damaging	0.86
R7903:Vwa7	UTSW	17	35017787	missense	probably damaging	1.00
R7922:Vwa7	UTSW	17	35024433	missense	possibly damaging	0.81
R8191:Vwa7	UTSW	17	35019736	missense	probably damaging	0.96

Predicted Primers

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

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

Posted On

2015-02-18