Mutagenetix > Incidental Mutation

Incidental Mutation 'R7730:Vwa8'

595786

Institutional Source

Beutler Lab

Gene Symbol

Vwa8

Ensembl Gene

ENSMUSG00000058997

Gene Name

von Willebrand factor A domain containing 8

Synonyms

1300010F03Rik, 4932416F07Rik

MMRRC Submission

045786-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7730 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

79086492-79439750 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 79232589 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 644 (T644A)

Ref Sequence

ENSEMBL: ENSMUSP00000048925 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040990] [ENSMUST00000227255]

AlphaFold

Q8CC88

Predicted Effect

probably benign
Transcript: ENSMUST00000040990
AA Change: T644A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000048925
Gene: ENSMUSG00000058997
AA Change: T644A

Domain	Start	End	E-Value	Type
low complexity region	5	15	N/A	INTRINSIC
low complexity region	20	33	N/A	INTRINSIC
Pfam:AAA_5	104	260	6.3e-44	PFAM
AAA	438	613	4.69e-2	SMART
AAA	772	904	1.26e-1	SMART
low complexity region	1213	1221	N/A	INTRINSIC
low complexity region	1565	1586	N/A	INTRINSIC
VWA	1712	1901	2.71e-10	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000227255
AA Change: T644A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik1	T	A	11: 48,838,703 (GRCm39)	H628L	probably benign	Het
Adam6a	T	A	12: 113,507,660 (GRCm39)	V11E	possibly damaging	Het
Amotl1	T	G	9: 14,467,059 (GRCm39)	K660T	possibly damaging	Het
Ap4m1	T	C	5: 138,171,077 (GRCm39)	I59T	probably damaging	Het
Brd3	T	C	2: 27,346,967 (GRCm39)	Y389C	probably damaging	Het
C1ra	G	A	6: 124,494,684 (GRCm39)	E316K	probably benign	Het
Card11	C	A	5: 140,871,751 (GRCm39)	R650L	probably damaging	Het
Cercam	G	A	2: 29,762,574 (GRCm39)		probably null	Het
Cnst	T	C	1: 179,452,650 (GRCm39)	C673R	probably damaging	Het
Dld	G	T	12: 31,390,864 (GRCm39)	T194K	probably benign	Het
Dnah12	T	A	14: 26,507,890 (GRCm39)	W1714R	probably damaging	Het
Dsg1a	T	G	18: 20,464,768 (GRCm39)	V421G	possibly damaging	Het
Fer1l4	G	T	2: 155,890,854 (GRCm39)	P188Q	probably benign	Het
Gpr158	T	C	2: 21,831,158 (GRCm39)	S753P	probably damaging	Het
Hdc	A	T	2: 126,436,002 (GRCm39)	M623K	possibly damaging	Het
Herc1	CAACCCTGGTAAC	CAAC	9: 66,400,472 (GRCm39)		probably benign	Het
Igf2r	A	T	17: 12,954,878 (GRCm39)	F203I	probably damaging	Het
Jag2	A	T	12: 112,885,661 (GRCm39)	I145N	probably damaging	Het
Kcnt2	T	A	1: 140,446,686 (GRCm39)	F694I	probably benign	Het
Lpl	A	T	8: 69,340,100 (GRCm39)	R32*	probably null	Het
Mcpt4	T	A	14: 56,297,428 (GRCm39)	I243L	probably benign	Het
Mtf1	C	A	4: 124,732,412 (GRCm39)	A490E	possibly damaging	Het
Mycbp2	A	T	14: 103,360,791 (GRCm39)	M4497K	probably damaging	Het
Myog	T	C	1: 134,218,914 (GRCm39)		probably null	Het
Nav2	T	C	7: 49,222,145 (GRCm39)	S1757P	probably damaging	Het
Or7g18	T	G	9: 18,786,709 (GRCm39)	F26V	probably benign	Het
Osmr	T	A	15: 6,853,963 (GRCm39)	I583F	probably damaging	Het
Phf19	T	A	2: 34,785,816 (GRCm39)	E551V	probably damaging	Het
Plxnb2	A	G	15: 89,046,533 (GRCm39)	M870T	probably benign	Het
Psat1	A	G	19: 15,895,720 (GRCm39)	F83L	probably damaging	Het
Reep1	T	A	6: 71,757,725 (GRCm39)	V108D	possibly damaging	Het
Rorc	A	G	3: 94,300,421 (GRCm39)	T455A	probably benign	Het
Serinc5	T	G	13: 92,821,698 (GRCm39)	I169S	probably damaging	Het
Serpinb6c	T	C	13: 34,083,292 (GRCm39)	M41V	probably damaging	Het
Sgsm3	A	T	15: 80,892,927 (GRCm39)	N335Y	probably damaging	Het
Slamf7	C	T	1: 171,468,589 (GRCm39)	R101H	possibly damaging	Het
Slc17a4	A	T	13: 24,084,503 (GRCm39)	L427*	probably null	Het
Slc35a5	T	C	16: 44,964,246 (GRCm39)	Q329R	probably damaging	Het
Slc45a1	C	T	4: 150,715,397 (GRCm39)	C656Y	probably damaging	Het
Srsf6	T	C	2: 162,773,643 (GRCm39)	I18T	probably damaging	Het
Syn3	T	G	10: 86,284,773 (GRCm39)	H109P	probably benign	Het
Synj2	T	C	17: 6,066,562 (GRCm39)	V580A	probably benign	Het
Tbc1d9b	T	C	11: 50,026,742 (GRCm39)	V70A	possibly damaging	Het
Tc2n	A	G	12: 101,617,406 (GRCm39)	Y402H	probably damaging	Het
Tmbim4	T	C	10: 120,059,767 (GRCm39)	C164R	possibly damaging	Het
Tnfrsf11b	T	A	15: 54,117,470 (GRCm39)	R262*	probably null	Het
Tnip1	T	C	11: 54,828,805 (GRCm39)	K121E	probably benign	Het
Tut1	T	C	19: 8,941,740 (GRCm39)		probably null	Het
Uhrf2	T	A	19: 30,052,501 (GRCm39)	C332S	probably damaging	Het
Vmn2r101	A	G	17: 19,831,950 (GRCm39)	I649V	possibly damaging	Het
Zfhx2	T	C	14: 55,304,357 (GRCm39)	H1209R	possibly damaging	Het
Zfp384	A	G	6: 125,008,635 (GRCm39)	I306V	probably benign	Het
Zfp964	A	G	8: 70,116,360 (GRCm39)	E320G	possibly damaging	Het
Zmym2	A	T	14: 57,193,638 (GRCm39)	Y1151F	possibly damaging	Het

Other mutations in Vwa8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00589:Vwa8	APN	14	79,275,635 (GRCm39)	missense	probably damaging	1.00
IGL01087:Vwa8	APN	14	79,172,669 (GRCm39)	missense	probably benign	0.16
IGL01137:Vwa8	APN	14	79,341,087 (GRCm39)	missense	probably damaging	1.00
IGL01359:Vwa8	APN	14	79,302,353 (GRCm39)	nonsense	probably null
IGL01449:Vwa8	APN	14	79,420,428 (GRCm39)	nonsense	probably null
IGL01604:Vwa8	APN	14	79,418,244 (GRCm39)	missense	possibly damaging	0.82
IGL01636:Vwa8	APN	14	79,435,794 (GRCm39)	missense	possibly damaging	0.68
IGL01815:Vwa8	APN	14	79,435,717 (GRCm39)	missense	possibly damaging	0.92
IGL02024:Vwa8	APN	14	79,331,724 (GRCm39)	missense	possibly damaging	0.91
IGL02033:Vwa8	APN	14	79,221,649 (GRCm39)	missense	possibly damaging	0.89
IGL02154:Vwa8	APN	14	79,086,733 (GRCm39)	missense	possibly damaging	0.53
IGL02286:Vwa8	APN	14	79,184,713 (GRCm39)	critical splice donor site	probably null
IGL02393:Vwa8	APN	14	79,420,417 (GRCm39)	missense	probably damaging	1.00
IGL02430:Vwa8	APN	14	79,172,085 (GRCm39)	critical splice donor site	probably null
IGL02476:Vwa8	APN	14	79,162,781 (GRCm39)	missense	possibly damaging	0.62
IGL02612:Vwa8	APN	14	79,420,552 (GRCm39)	missense	probably benign	0.01
IGL02678:Vwa8	APN	14	79,221,640 (GRCm39)	missense	probably damaging	0.99
IGL02797:Vwa8	APN	14	79,162,702 (GRCm39)	missense	probably benign	0.29
IGL02806:Vwa8	APN	14	79,394,528 (GRCm39)	missense	probably benign	0.35
IGL02811:Vwa8	APN	14	79,231,899 (GRCm39)	missense	probably benign	0.21
IGL02892:Vwa8	APN	14	79,341,140 (GRCm39)	splice site	probably benign
IGL03024:Vwa8	APN	14	79,232,538 (GRCm39)	missense	probably benign	0.03
IGL03075:Vwa8	APN	14	79,171,196 (GRCm39)	missense	probably damaging	0.99
IGL03090:Vwa8	APN	14	79,172,041 (GRCm39)	missense	possibly damaging	0.92
IGL03124:Vwa8	APN	14	79,296,255 (GRCm39)	splice site	probably benign
IGL03181:Vwa8	APN	14	79,246,690 (GRCm39)	missense	probably benign	0.01
IGL03296:Vwa8	APN	14	79,420,540 (GRCm39)	missense	probably damaging	0.98
IGL03376:Vwa8	APN	14	79,420,574 (GRCm39)	splice site	probably null
R6812_Vwa8_870	UTSW	14	79,434,859 (GRCm39)	missense	probably damaging	0.99
IGL03052:Vwa8	UTSW	14	79,302,361 (GRCm39)	missense	probably benign	0.02
PIT4468001:Vwa8	UTSW	14	79,420,501 (GRCm39)	missense	probably damaging	1.00
R0049:Vwa8	UTSW	14	79,331,179 (GRCm39)	missense	probably benign	0.21
R0063:Vwa8	UTSW	14	79,401,656 (GRCm39)	splice site	probably benign
R0063:Vwa8	UTSW	14	79,401,656 (GRCm39)	splice site	probably benign
R0081:Vwa8	UTSW	14	79,320,222 (GRCm39)	missense	probably benign	0.02
R0305:Vwa8	UTSW	14	79,246,713 (GRCm39)	missense	probably damaging	1.00
R0433:Vwa8	UTSW	14	79,300,116 (GRCm39)	missense	probably damaging	1.00
R0514:Vwa8	UTSW	14	79,184,629 (GRCm39)	missense	probably benign
R0602:Vwa8	UTSW	14	79,258,060 (GRCm39)	missense	probably benign	0.00
R0615:Vwa8	UTSW	14	79,145,590 (GRCm39)	missense	probably benign
R0791:Vwa8	UTSW	14	79,232,016 (GRCm39)	splice site	probably benign
R1028:Vwa8	UTSW	14	79,145,670 (GRCm39)	missense	probably damaging	1.00
R1037:Vwa8	UTSW	14	79,324,094 (GRCm39)	nonsense	probably null
R1404:Vwa8	UTSW	14	79,263,471 (GRCm39)	missense	probably damaging	1.00
R1404:Vwa8	UTSW	14	79,263,471 (GRCm39)	missense	probably damaging	1.00
R1412:Vwa8	UTSW	14	79,145,670 (GRCm39)	missense	probably damaging	1.00
R1421:Vwa8	UTSW	14	79,145,670 (GRCm39)	missense	probably damaging	1.00
R1467:Vwa8	UTSW	14	79,341,134 (GRCm39)	nonsense	probably null
R1467:Vwa8	UTSW	14	79,341,134 (GRCm39)	nonsense	probably null
R1539:Vwa8	UTSW	14	79,300,002 (GRCm39)	missense	probably benign	0.00
R1556:Vwa8	UTSW	14	79,324,121 (GRCm39)	missense	probably benign
R1589:Vwa8	UTSW	14	79,145,670 (GRCm39)	missense	probably damaging	1.00
R1590:Vwa8	UTSW	14	79,145,670 (GRCm39)	missense	probably damaging	1.00
R1591:Vwa8	UTSW	14	79,145,670 (GRCm39)	missense	probably damaging	1.00
R1645:Vwa8	UTSW	14	79,420,427 (GRCm39)	missense	probably damaging	1.00
R1673:Vwa8	UTSW	14	79,145,670 (GRCm39)	missense	probably damaging	1.00
R1688:Vwa8	UTSW	14	79,438,543 (GRCm39)	missense	possibly damaging	0.72
R1764:Vwa8	UTSW	14	79,145,635 (GRCm39)	missense	probably damaging	1.00
R1830:Vwa8	UTSW	14	79,318,576 (GRCm39)	missense	probably benign	0.04
R1926:Vwa8	UTSW	14	79,258,075 (GRCm39)	missense	probably benign	0.00
R1959:Vwa8	UTSW	14	79,219,800 (GRCm39)	missense	possibly damaging	0.95
R1971:Vwa8	UTSW	14	79,162,694 (GRCm39)	splice site	probably benign
R2078:Vwa8	UTSW	14	79,145,597 (GRCm39)	missense	probably damaging	1.00
R2103:Vwa8	UTSW	14	79,145,670 (GRCm39)	missense	probably damaging	1.00
R2230:Vwa8	UTSW	14	79,329,843 (GRCm39)	critical splice donor site	probably null
R2281:Vwa8	UTSW	14	79,302,436 (GRCm39)	missense	possibly damaging	0.91
R2313:Vwa8	UTSW	14	79,149,658 (GRCm39)	missense	probably damaging	0.98
R2847:Vwa8	UTSW	14	79,184,582 (GRCm39)	missense	probably benign	0.00
R2848:Vwa8	UTSW	14	79,184,582 (GRCm39)	missense	probably benign	0.00
R2894:Vwa8	UTSW	14	79,275,578 (GRCm39)	missense	probably damaging	1.00
R2991:Vwa8	UTSW	14	79,232,589 (GRCm39)	missense	probably benign	0.00
R3077:Vwa8	UTSW	14	79,335,782 (GRCm39)	missense	probably benign	0.03
R3405:Vwa8	UTSW	14	79,401,660 (GRCm39)	splice site	probably benign
R3406:Vwa8	UTSW	14	79,401,660 (GRCm39)	splice site	probably benign
R3708:Vwa8	UTSW	14	79,300,136 (GRCm39)	splice site	probably benign
R3779:Vwa8	UTSW	14	79,339,762 (GRCm39)	splice site	probably benign
R3799:Vwa8	UTSW	14	79,302,336 (GRCm39)	missense	probably damaging	0.99
R4230:Vwa8	UTSW	14	79,320,292 (GRCm39)	missense	probably benign	0.00
R4425:Vwa8	UTSW	14	79,320,246 (GRCm39)	missense	probably benign	0.00
R4478:Vwa8	UTSW	14	79,106,241 (GRCm39)	missense	probably benign	0.00
R4627:Vwa8	UTSW	14	79,341,137 (GRCm39)	critical splice donor site	probably null
R4835:Vwa8	UTSW	14	79,172,053 (GRCm39)	missense	probably benign	0.11
R4868:Vwa8	UTSW	14	79,420,522 (GRCm39)	missense	probably damaging	1.00
R4988:Vwa8	UTSW	14	79,435,723 (GRCm39)	missense	probably benign	0.05
R5137:Vwa8	UTSW	14	79,302,342 (GRCm39)	missense	probably damaging	1.00
R5156:Vwa8	UTSW	14	79,221,666 (GRCm39)	missense	probably benign	0.00
R5658:Vwa8	UTSW	14	79,219,838 (GRCm39)	critical splice donor site	probably null
R5841:Vwa8	UTSW	14	79,231,958 (GRCm39)	missense	probably benign
R6057:Vwa8	UTSW	14	79,320,313 (GRCm39)	missense	probably benign	0.21
R6244:Vwa8	UTSW	14	79,324,102 (GRCm39)	missense	probably benign
R6264:Vwa8	UTSW	14	79,324,252 (GRCm39)	missense	possibly damaging	0.64
R6290:Vwa8	UTSW	14	79,331,772 (GRCm39)	splice site	probably null
R6332:Vwa8	UTSW	14	79,434,904 (GRCm39)	missense	probably benign
R6395:Vwa8	UTSW	14	79,331,184 (GRCm39)	missense	probably benign	0.02
R6472:Vwa8	UTSW	14	79,246,610 (GRCm39)	missense	possibly damaging	0.71
R6497:Vwa8	UTSW	14	79,333,841 (GRCm39)	missense	probably benign	0.00
R6527:Vwa8	UTSW	14	79,184,653 (GRCm39)	missense	possibly damaging	0.73
R6552:Vwa8	UTSW	14	79,435,662 (GRCm39)	missense	possibly damaging	0.80
R6812:Vwa8	UTSW	14	79,434,859 (GRCm39)	missense	probably damaging	0.99
R6994:Vwa8	UTSW	14	79,145,596 (GRCm39)	missense	possibly damaging	0.90
R7040:Vwa8	UTSW	14	79,149,645 (GRCm39)	missense	probably damaging	1.00
R7357:Vwa8	UTSW	14	79,275,641 (GRCm39)	missense	probably null	1.00
R7363:Vwa8	UTSW	14	79,256,147 (GRCm39)	missense	probably benign	0.05
R7381:Vwa8	UTSW	14	79,333,125 (GRCm39)	missense	probably benign	0.00
R7406:Vwa8	UTSW	14	79,219,674 (GRCm39)	critical splice acceptor site	probably null
R7408:Vwa8	UTSW	14	79,219,674 (GRCm39)	critical splice acceptor site	probably null
R7409:Vwa8	UTSW	14	79,219,674 (GRCm39)	critical splice acceptor site	probably null
R7410:Vwa8	UTSW	14	79,219,674 (GRCm39)	critical splice acceptor site	probably null
R7483:Vwa8	UTSW	14	79,219,674 (GRCm39)	critical splice acceptor site	probably null
R7484:Vwa8	UTSW	14	79,219,674 (GRCm39)	critical splice acceptor site	probably null
R7491:Vwa8	UTSW	14	79,320,254 (GRCm39)	missense	probably benign	0.24
R7500:Vwa8	UTSW	14	79,162,686 (GRCm39)	splice site	probably null
R7514:Vwa8	UTSW	14	79,219,674 (GRCm39)	critical splice acceptor site	probably null
R7582:Vwa8	UTSW	14	79,219,674 (GRCm39)	critical splice acceptor site	probably null
R7584:Vwa8	UTSW	14	79,219,674 (GRCm39)	critical splice acceptor site	probably null
R7585:Vwa8	UTSW	14	79,219,674 (GRCm39)	critical splice acceptor site	probably null
R7647:Vwa8	UTSW	14	79,172,669 (GRCm39)	missense	probably damaging	0.99
R7685:Vwa8	UTSW	14	79,335,740 (GRCm39)	missense	probably benign
R7703:Vwa8	UTSW	14	79,263,513 (GRCm39)	missense	probably damaging	1.00
R7775:Vwa8	UTSW	14	79,275,587 (GRCm39)	missense	probably benign	0.03
R7778:Vwa8	UTSW	14	79,275,587 (GRCm39)	missense	probably benign	0.03
R7824:Vwa8	UTSW	14	79,275,587 (GRCm39)	missense	probably benign	0.03
R7885:Vwa8	UTSW	14	79,258,089 (GRCm39)	missense	probably benign	0.00
R7902:Vwa8	UTSW	14	79,329,731 (GRCm39)	missense	probably benign	0.00
R8262:Vwa8	UTSW	14	79,171,272 (GRCm39)	critical splice donor site	probably null
R8458:Vwa8	UTSW	14	79,302,332 (GRCm39)	missense	probably damaging	1.00
R8495:Vwa8	UTSW	14	79,174,617 (GRCm39)	nonsense	probably null
R8557:Vwa8	UTSW	14	79,246,649 (GRCm39)	missense	probably damaging	1.00
R8841:Vwa8	UTSW	14	79,184,702 (GRCm39)	missense	probably benign	0.04
R8906:Vwa8	UTSW	14	79,329,815 (GRCm39)	missense	probably benign	0.00
R8947:Vwa8	UTSW	14	79,438,552 (GRCm39)	missense	probably damaging	1.00
R9034:Vwa8	UTSW	14	79,296,179 (GRCm39)	missense	probably damaging	1.00
R9051:Vwa8	UTSW	14	79,324,150 (GRCm39)	missense	probably benign	0.00
R9179:Vwa8	UTSW	14	79,335,801 (GRCm39)	missense	probably benign
R9433:Vwa8	UTSW	14	79,335,871 (GRCm39)	critical splice donor site	probably null
R9455:Vwa8	UTSW	14	79,300,115 (GRCm39)	missense	probably damaging	1.00
R9496:Vwa8	UTSW	14	79,258,122 (GRCm39)	missense	probably benign
R9530:Vwa8	UTSW	14	79,172,639 (GRCm39)	missense	probably benign	0.33
R9584:Vwa8	UTSW	14	79,394,549 (GRCm39)	missense	probably benign
R9763:Vwa8	UTSW	14	79,186,988 (GRCm39)	missense	probably damaging	1.00
Z1088:Vwa8	UTSW	14	79,219,686 (GRCm39)	missense	probably benign	0.38
Z1177:Vwa8	UTSW	14	79,296,132 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTTTCAAAGAATGCCAGGCC -3'
(R):5'- CTATGCACAGGGACAAGAGC -3'

Sequencing Primer
(F):5'- GTAACTTCATGACTTCAACGTGGACC -3'
(R):5'- CAGTGGTACCAGGGCTGTACTATG -3'

Posted On

2019-11-12