Mutagenetix > Incidental Mutation

Incidental Mutation 'R5137:Vwa7'

396244

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

042723-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R5137 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

35235555-35245717 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 35236822 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Tyrosine at position 130 (D130Y)

Ref Sequence

ENSEMBL: ENSMUSP00000133418 (fasta)

Gene Model

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

AlphaFold

Q9JHA8

Predicted Effect

probably damaging
Transcript: ENSMUST00000007245
AA Change: D130Y

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

SMART Domains

Protein: ENSMUSP00000007245
Gene: ENSMUSG00000007030
AA Change: D130Y

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: 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: D130Y

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

SMART Domains

Protein: ENSMUSP00000133418
Gene: ENSMUSG00000007030
AA Change: D130Y

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: ENSMUST00000172999

Predicted Effect

probably benign
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

noncoding transcript
Transcript: ENSMUST00000173302

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173336

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174084

Predicted Effect

probably benign
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

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad9	T	C	3: 36,123,920 (GRCm39)	V75A	probably benign	Het
Ace	G	C	11: 105,865,652 (GRCm39)	W628C	probably damaging	Het
Adh4	T	C	3: 138,127,996 (GRCm39)	S141P	probably benign	Het
Apob	T	C	12: 8,061,384 (GRCm39)	Y3256H	possibly damaging	Het
B3galnt1	G	T	3: 69,482,282 (GRCm39)	N326K	probably benign	Het
Bltp3a	T	G	17: 28,095,964 (GRCm39)		probably null	Het
Catsperb	T	C	12: 101,516,070 (GRCm39)	F569L	probably damaging	Het
Cecr2	A	G	6: 120,732,478 (GRCm39)	I225V	probably benign	Het
Cox5b	A	G	1: 36,731,510 (GRCm39)		probably null	Het
Crybg1	T	C	10: 43,834,332 (GRCm39)	D1953G	probably damaging	Het
Dnaaf5	C	T	5: 139,167,215 (GRCm39)	T707M	probably damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Ebf1	G	A	11: 44,882,295 (GRCm39)	R409Q	probably damaging	Het
Eef2k	G	A	7: 120,484,645 (GRCm39)	A256T	probably damaging	Het
Eef2k	C	A	7: 120,484,646 (GRCm39)	A256D	probably damaging	Het
Evl	C	G	12: 108,647,781 (GRCm39)	T294S	probably benign	Het
Eya2	T	C	2: 165,573,548 (GRCm39)	Y288H	probably damaging	Het
Ezh2	A	T	6: 47,509,014 (GRCm39)		probably null	Het
Fam171a1	T	C	2: 3,226,426 (GRCm39)	Y395H	probably benign	Het
Gas2l3	C	A	10: 89,249,837 (GRCm39)	R427L	probably damaging	Het
Gli2	T	A	1: 118,783,233 (GRCm39)	I91F	probably damaging	Het
Gm4884	T	C	7: 40,692,318 (GRCm39)	S96P	probably damaging	Het
Gprc5d	T	A	6: 135,093,031 (GRCm39)	D292V	probably benign	Het
Herc1	A	G	9: 66,355,505 (GRCm39)	K2252R	probably benign	Het
Il1rl1	A	T	1: 40,489,285 (GRCm39)	M346L	probably benign	Het
Kcna5	A	T	6: 126,510,946 (GRCm39)	V394D	probably damaging	Het
Kcng4	A	T	8: 120,352,617 (GRCm39)	M431K	possibly damaging	Het
Kifbp	A	T	10: 62,414,020 (GRCm39)	V46E	probably damaging	Het
Large1	A	G	8: 73,774,937 (GRCm39)	F258L	possibly damaging	Het
Mapkbp1	T	A	2: 119,852,662 (GRCm39)	C1001S	probably damaging	Het
Micu1	A	G	10: 59,663,054 (GRCm39)	Q328R	probably benign	Het
Mmp11	G	A	10: 75,761,290 (GRCm39)	P437S	probably damaging	Het
Msh6	T	A	17: 88,287,716 (GRCm39)	F119I	possibly damaging	Het
Myo6	A	G	9: 80,149,531 (GRCm39)	E159G	probably damaging	Het
Negr1	T	A	3: 156,721,833 (GRCm39)	Y136N	probably damaging	Het
Nol9	T	A	4: 152,130,428 (GRCm39)	C321S	probably damaging	Het
Nos1	T	C	5: 118,043,378 (GRCm39)	F551S	probably benign	Het
Nup153	C	A	13: 46,837,629 (GRCm39)	G1198C	probably damaging	Het
Omd	T	C	13: 49,743,552 (GRCm39)	S201P	probably benign	Het
Or1e16	AGCGGTCGTAGGC	AGC	11: 73,286,480 (GRCm39)		probably null	Het
Or1e35	T	C	11: 73,797,452 (GRCm39)	I289V	probably damaging	Het
Or4c120	C	A	2: 89,000,744 (GRCm39)	V271F	probably benign	Het
Or51l14	A	G	7: 103,100,919 (GRCm39)	Y125C	probably damaging	Het
Or51l14	C	A	7: 103,100,920 (GRCm39)	Y125*	probably null	Het
Oxct1	G	T	15: 4,064,832 (GRCm39)	A57S	probably benign	Het
Pcdhga7	T	G	18: 37,850,433 (GRCm39)	S813R	probably damaging	Het
Pcmtd2	A	T	2: 181,496,787 (GRCm39)	I255F	possibly damaging	Het
Pdk1	T	G	2: 71,713,913 (GRCm39)	M186R	possibly damaging	Het
Pelp1	T	C	11: 70,285,925 (GRCm39)	T648A	probably damaging	Het
Phldb2	A	T	16: 45,628,621 (GRCm39)	S570R	possibly damaging	Het
Pramel16	T	A	4: 143,675,690 (GRCm39)	T379S	probably benign	Het
Ptprj	T	C	2: 90,299,992 (GRCm39)	T270A	possibly damaging	Het
Reln	C	T	5: 22,160,179 (GRCm39)	G2130D	probably damaging	Het
Rims1	A	T	1: 22,358,844 (GRCm39)	Y663*	probably null	Het
Rit2	T	C	18: 31,286,817 (GRCm39)	T123A	probably benign	Het
Rmdn2	A	T	17: 79,975,418 (GRCm39)	E302D	probably benign	Het
Ryr1	T	C	7: 28,801,283 (GRCm39)	E827G	possibly damaging	Het
Siglec1	C	T	2: 130,923,264 (GRCm39)	G494R	probably damaging	Het
Slc16a14	T	A	1: 84,890,318 (GRCm39)	Y329F	probably damaging	Het
Slc35d1	A	T	4: 103,071,978 (GRCm39)	L8Q	possibly damaging	Het
Smpdl3a	C	T	10: 57,677,163 (GRCm39)	S57L	possibly damaging	Het
Snx9	T	C	17: 5,978,528 (GRCm39)	V566A	probably damaging	Het
Spaca1	A	T	4: 34,029,095 (GRCm39)	I126N	probably damaging	Het
Spred1	T	G	2: 116,994,052 (GRCm39)	I94S	probably damaging	Het
Tardbp	T	C	4: 148,706,494 (GRCm39)	D105G	possibly damaging	Het
Tet2	T	C	3: 133,182,326 (GRCm39)	S1213G	probably benign	Het
Trak1	A	T	9: 121,196,121 (GRCm39)		probably benign	Het
Trem3	G	A	17: 48,556,756 (GRCm39)	V76M	possibly damaging	Het
Ttc13	G	T	8: 125,421,674 (GRCm39)	Y250*	probably null	Het
Ttll5	T	G	12: 85,969,819 (GRCm39)	S714R	possibly damaging	Het
Ube2l6	T	G	2: 84,633,220 (GRCm39)		probably null	Het
Ubr3	T	C	2: 69,803,679 (GRCm39)	S1090P	probably damaging	Het
Vezt	T	C	10: 93,806,372 (GRCm39)	T680A	probably benign	Het
Virma	A	G	4: 11,546,297 (GRCm39)	K1762E	probably damaging	Het
Vps53	A	G	11: 76,057,074 (GRCm39)	S57P	probably damaging	Het
Vwa8	T	G	14: 79,302,342 (GRCm39)	F1004V	probably damaging	Het
Zfp35	A	T	18: 24,137,194 (GRCm39)	K513*	probably null	Het
Zfp384	ACAGCAGCAGCAGCAGCAGCAGC	ACAGCAGCAGCAGCAGCAGC	6: 125,013,472 (GRCm39)		probably benign	Het
Zfp521	C	A	18: 13,978,505 (GRCm39)	C636F	probably damaging	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
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
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'- TAACCACTCTTGCTAGGGCC -3'
(R):5'- TTGTAGCTACTCCTGGCCAGAC -3'

Sequencing Primer
(F):5'- TCTTGCTAGGGCCGGACC -3'
(R):5'- AAGTGCTGCCAGCTCAG -3'

Posted On

2016-06-21