Mutagenetix > Incidental Mutation

Incidental Mutation 'R7117:Vwa3b'

551808

Institutional Source

Beutler Lab

Gene Symbol

Vwa3b

Ensembl Gene

ENSMUSG00000050122

Gene Name

von Willebrand factor A domain containing 3B

Synonyms

4921511C04Rik, A230074B11Rik

MMRRC Submission

Accession Numbers

NCBI RefSeq: XM_003084438.1; MGI:1918103

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R7117 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37026596-37187613 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 37135553 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 15 (D15G)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027289]

AlphaFold

A0A571BE33

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027289
AA Change: D683G

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000027289
Gene: ENSMUSG00000050122
AA Change: D683G

Domain	Start	End	E-Value	Type
Pfam:DUF4537	159	285	9.1e-36	PFAM
low complexity region	327	336	N/A	INTRINSIC
low complexity region	345	364	N/A	INTRINSIC

Predicted Effect

Meta Mutation Damage Score

0.0804

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

97% (95/98)

Allele List at MGI

All alleles(71) : Targeted(3) Gene trapped(68)

Other mutations in this stock

Total: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	T	C	5: 113,191,384	Y254C	probably benign	Het
4930480E11Rik	G	T	X: 78,370,705	M345I	probably benign	Het
9330182L06Rik	T	A	5: 9,445,384	C729*	probably null	Het
Adam12	T	C	7: 133,916,462	I650V	probably benign	Het
Adam39	G	T	8: 40,826,242	G557C	probably damaging	Het
Ak5	A	G	3: 152,615,856		probably null	Het
Arhgef10l	C	T	4: 140,564,186		probably null	Het
Arhgef37	C	T	18: 61,504,410	E394K	probably benign	Het
Baz2b	A	G	2: 59,912,497	V13A		Het
Bnc1	G	T	7: 81,973,361	A706E	possibly damaging	Het
Bscl2	G	A	19: 8,848,514	A421T	possibly damaging	Het
Btn1a1	A	C	13: 23,459,245	W345G	possibly damaging	Het
C3	A	T	17: 57,212,655	M1199K	probably benign	Het
C87499	T	A	4: 88,628,958	M246L	probably damaging	Het
Ccdc18	T	G	5: 108,148,969	L213V	possibly damaging	Het
Cers2	T	C	3: 95,320,761		probably null	Het
Chpt1	T	A	10: 88,480,849	H249L	probably damaging	Het
Cited2	A	G	10: 17,724,616	E224G	possibly damaging	Het
Cntn5	T	A	9: 10,904,699		probably benign	Het
Col28a1	A	G	6: 8,013,122	S977P	possibly damaging	Het
Col6a1	T	C	10: 76,725,009	K52E	probably damaging	Het
Cpne2	T	A	8: 94,555,544	H239Q	probably damaging	Het
Cr2	A	T	1: 195,160,601	N244K	possibly damaging	Het
Csf2rb2	T	C	15: 78,285,185	D590G	probably damaging	Het
Defb25	A	C	2: 152,622,460	C55G	probably damaging	Het
Dnah7b	A	T	1: 46,352,813		probably null	Het
Dvl3	T	A	16: 20,527,322	Y467*	probably null	Het
Extl2	T	C	3: 116,027,439	S312P	probably damaging	Het
Fam178b	T	C	1: 36,600,467	T313A	probably benign	Het
Fam186b	A	G	15: 99,285,590	Y58H	probably damaging	Het
Fat1	A	T	8: 45,031,468	I3248L	probably damaging	Het
Fat2	A	G	11: 55,281,262	F2875S	probably damaging	Het
Flnb	T	A	14: 7,894,214	N760K	probably benign	Het
Galnt14	T	C	17: 73,494,195	H544R	probably benign	Het
Gpr137c	A	C	14: 45,279,027	R357S	probably damaging	Het
Grk2	A	G	19: 4,290,602		probably null	Het
Hectd2	A	T	19: 36,599,655	T342S	probably benign	Het
Hfe2	G	T	3: 96,528,226	V267L	possibly damaging	Het
Ildr2	G	T	1: 166,295,811	G270C	probably damaging	Het
Insm2	C	A	12: 55,600,572	A367D	probably damaging	Het
Kcnh5	T	A	12: 75,114,445	I230F	possibly damaging	Het
Keg1	T	A	19: 12,709,678	S24T	probably damaging	Het
Kera	A	T	10: 97,612,852	E311D	probably benign	Het
Kit	T	A	5: 75,607,098	I47K	probably benign	Het
Megf6	A	G	4: 154,258,922	T663A	possibly damaging	Het
Mettl21c	G	A	1: 44,010,648	A79V	probably damaging	Het
Mfsd1	T	A	3: 67,600,058		probably null	Het
Mob3b	A	G	4: 34,985,914		probably null	Het
Morc2b	T	A	17: 33,137,952	H282L	probably benign	Het
Mtpap	T	C	18: 4,380,889		probably null	Het
Mtus1	A	G	8: 41,083,584	V365A	possibly damaging	Het
Muc5ac	T	A	7: 141,813,822	Y2993*	probably null	Het
Mycbp2	A	C	14: 103,154,077	F3422V	probably benign	Het
Ndufb7	T	A	8: 83,570,861	D48E	probably benign	Het
Nxpe5	A	G	5: 138,239,442	Y88C	probably damaging	Het
Olfr1177-ps	A	G	2: 88,344,561	L64P	probably damaging	Het
Olfr575	T	A	7: 102,954,978	M208L	probably benign	Het
Osbpl5	T	A	7: 143,709,783	D121V	probably benign	Het
Oxnad1	A	T	14: 32,091,651	H3L	probably benign	Het
Pam	C	A	1: 97,977,116		probably benign	Het
Papolg	T	C	11: 23,895,207		probably benign	Het
Pax1	G	A	2: 147,366,270	G266D	probably damaging	Het
Pde11a	A	T	2: 76,076,004	M623K	probably damaging	Het
Peg3	GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC	GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC	7: 6,709,168		probably benign	Het
Phf21a	A	T	2: 92,359,157	Q587L	probably benign	Het
Plcb3	A	G	19: 6,964,378	L336P	probably damaging	Het
Pnp2	T	C	14: 50,964,474	*306Q	probably null	Het
Pou5f2	A	G	13: 78,025,273	I111M	probably benign	Het
Prmt3	G	T	7: 49,818,095	A350S	probably benign	Het
Rac3	A	T	11: 120,723,517	R163*	probably null	Het
Raly	G	T	2: 154,857,512	V79L	probably benign	Het
Rbm20	A	T	19: 53,851,558	T993S	possibly damaging	Het
Rwdd3	A	G	3: 121,171,338	L56P	probably benign	Het
Serpina3a	C	T	12: 104,116,177	H70Y	possibly damaging	Het
Sez6l2	A	C	7: 126,953,743	E227A	possibly damaging	Het
Shank1	C	T	7: 44,327,161	A561V	unknown	Het
Sidt2	C	T	9: 45,953,219	V71I	probably benign	Het
Slc35f6	T	C	5: 30,657,707	L326P	probably damaging	Het
Sox2	G	A	3: 34,650,926	G171S	possibly damaging	Het
Spef2	G	A	15: 9,729,838	R65C	probably damaging	Het
Stip1	C	T	19: 7,021,810	G467S	possibly damaging	Het
Tada2a	T	A	11: 84,085,688	I327F	probably damaging	Het
Tex2	A	G	11: 106,544,245	V785A	unknown	Het
Thada	C	A	17: 84,230,786		probably null	Het
Theg	A	T	10: 79,584,907		probably null	Het
Tmed1	G	A	9: 21,509,254	T94M	possibly damaging	Het
Tsr1	G	T	11: 74,899,534	M149I	probably benign	Het
Ttc8	T	C	12: 98,976,502	Y434H	possibly damaging	Het
Ttn	A	G	2: 76,748,175	Y24125H	probably damaging	Het
Ttn	A	G	2: 76,942,891	I2435T	unknown	Het
Ttn	G	T	2: 76,721,909		probably null	Het
Uggt2	T	C	14: 119,014,526	I1174M	probably benign	Het
Unc13b	T	C	4: 43,216,544	I281T	probably benign	Het
Usp1	G	T	4: 98,928,890	K106N	possibly damaging	Het
Zfp28	G	A	7: 6,394,462	C632Y	probably damaging	Het
Zfp68	T	C	5: 138,606,318	D581G	probably benign	Het
Zmynd10	A	C	9: 107,547,517	S21R	probably benign	Het
Zswim4	C	T	8: 84,214,052	R806H	probably damaging	Het

Other mutations in Vwa3b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01404:Vwa3b	APN	1	37154036	missense	probably benign	0.28
IGL02236:Vwa3b	APN	1	37154051	splice site	probably benign
IGL02653:Vwa3b	APN	1	37175565	utr 3 prime	probably benign
IGL02823:Vwa3b	APN	1	37186904	utr 3 prime	probably benign
IGL03030:Vwa3b	APN	1	37044968	missense	probably damaging	1.00
P0014:Vwa3b	UTSW	1	37173914	utr 3 prime	probably benign
R0035:Vwa3b	UTSW	1	37165689	missense	possibly damaging	0.69
R0102:Vwa3b	UTSW	1	37135514	missense	probably damaging	1.00
R0556:Vwa3b	UTSW	1	37164485	splice site	probably benign
R1061:Vwa3b	UTSW	1	37157430	missense	probably damaging	1.00
R1386:Vwa3b	UTSW	1	37051881	critical splice donor site	probably null
R2441:Vwa3b	UTSW	1	37143069	unclassified	probably benign
R3117:Vwa3b	UTSW	1	37109077	missense	possibly damaging	0.95
R3119:Vwa3b	UTSW	1	37109077	missense	possibly damaging	0.95
R4081:Vwa3b	UTSW	1	37035824	missense	probably damaging	0.99
R4393:Vwa3b	UTSW	1	37045178	missense	probably damaging	1.00
R4897:Vwa3b	UTSW	1	37114603	splice site	probably benign
R4950:Vwa3b	UTSW	1	37085332	missense	probably benign	0.00
R4978:Vwa3b	UTSW	1	37115671	missense	probably damaging	0.99
R5141:Vwa3b	UTSW	1	37187021	utr 3 prime	probably benign
R5286:Vwa3b	UTSW	1	37045039	missense	probably damaging	1.00
R5356:Vwa3b	UTSW	1	37114583	missense	probably damaging	0.99
R5426:Vwa3b	UTSW	1	37115671	missense	probably damaging	0.99
R5480:Vwa3b	UTSW	1	37100706	nonsense	probably null
R5727:Vwa3b	UTSW	1	37135519	missense	probably benign	0.10
R5876:Vwa3b	UTSW	1	37076439	missense	probably damaging	0.97
R6191:Vwa3b	UTSW	1	37114531	missense	possibly damaging	0.92
R6219:Vwa3b	UTSW	1	37100698	missense	possibly damaging	0.92
R6250:Vwa3b	UTSW	1	37051885	splice site	probably null
R6281:Vwa3b	UTSW	1	37123982	missense	probably damaging	1.00
R6419:Vwa3b	UTSW	1	37157376	missense	probably benign	0.01
R6467:Vwa3b	UTSW	1	37085286	missense	probably benign	0.01
R6512:Vwa3b	UTSW	1	37063642	intron	probably benign
R6541:Vwa3b	UTSW	1	37051761	missense	probably damaging	1.00
R6724:Vwa3b	UTSW	1	37045031	missense	probably damaging	1.00
R6728:Vwa3b	UTSW	1	37157372	missense	probably damaging	1.00
R7046:Vwa3b	UTSW	1	37173878	missense	probably benign
R7304:Vwa3b	UTSW	1	37164505	missense	probably damaging	1.00
R7402:Vwa3b	UTSW	1	37114597	nonsense	probably null
R7762:Vwa3b	UTSW	1	37124045	missense	probably damaging	1.00
R7911:Vwa3b	UTSW	1	37154026	missense	probably damaging	1.00
R8213:Vwa3b	UTSW	1	37128939	missense	probably benign	0.07
R8402:Vwa3b	UTSW	1	37165798	missense	probably damaging	1.00
R8697:Vwa3b	UTSW	1	37076380	missense	probably benign	0.09
R8758:Vwa3b	UTSW	1	37137792	missense
R8874:Vwa3b	UTSW	1	37035758	missense	possibly damaging	0.73
R9011:Vwa3b	UTSW	1	37115686	missense	probably damaging	1.00
R9012:Vwa3b	UTSW	1	37085310	missense	probably benign	0.15
R9015:Vwa3b	UTSW	1	37164516	missense	possibly damaging	0.71
R9102:Vwa3b	UTSW	1	37135512	start codon destroyed	probably null
R9263:Vwa3b	UTSW	1	37060412	missense	probably benign	0.43
R9277:Vwa3b	UTSW	1	37157453	critical splice donor site	probably null
R9294:Vwa3b	UTSW	1	37035801	missense	probably damaging	0.99
R9341:Vwa3b	UTSW	1	37114534	missense	probably damaging	1.00
R9343:Vwa3b	UTSW	1	37114534	missense	probably damaging	1.00
R9502:Vwa3b	UTSW	1	37060439	missense	probably damaging	0.99
R9758:Vwa3b	UTSW	1	37042357	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGTCTCTGTCCAAGGTGTCTG -3'
(R):5'- GTGACCACCTCTATCCACCATTAG -3'

Sequencing Primer
(F):5'- AAGGTGTCTGTGCTCTCCCAG -3'
(R):5'- TAACATGGCCAGACTACGTGCTTC -3'

Posted On

2019-05-15