Incidental Mutation 'IGL03030:Vwa3b'
ID408410
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Vwa3b
Ensembl Gene ENSMUSG00000050122
Gene Namevon Willebrand factor A domain containing 3B
Synonyms4921511C04Rik, A230074B11Rik
Accession Numbers

NCBI RefSeq: XM_003084438.1; MGI:1918103

Is this an essential gene? Probably non essential (E-score: 0.061) question?
Stock #IGL03030
Quality Score
Status
Chromosome1
Chromosomal Location37026596-37187613 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 37044968 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Methionine at position 74 (K74M)
Ref Sequence ENSEMBL: ENSMUSP00000125460 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027289] [ENSMUST00000067178] [ENSMUST00000117172] [ENSMUST00000124404] [ENSMUST00000162449]
Predicted Effect probably damaging
Transcript: ENSMUST00000027289
AA Change: K74M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000027289
Gene: ENSMUSG00000050122
AA Change: K74M

DomainStartEndE-ValueType
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 probably damaging
Transcript: ENSMUST00000067178
AA Change: K74M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000069700
Gene: ENSMUSG00000050122
AA Change: K74M

DomainStartEndE-ValueType
Blast:VWA 112 272 7e-16 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000117172
AA Change: K74M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000114022
Gene: ENSMUSG00000050122
AA Change: K74M

DomainStartEndE-ValueType
Blast:VWA 112 272 7e-16 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000124404
AA Change: K74M

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000141690
Gene: ENSMUSG00000050122
AA Change: K74M

DomainStartEndE-ValueType
Blast:VWA 112 272 5e-16 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000162449
AA Change: K74M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000125460
Gene: ENSMUSG00000050122
AA Change: K74M

DomainStartEndE-ValueType
Blast:VWA 112 272 7e-16 BLAST
Coding Region Coverage
Validation Efficiency
Allele List at MGI

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

Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110008L16Rik A G 12: 55,304,644 D246G probably damaging Het
4930452B06Rik A G 14: 8,511,113 S434P probably damaging Het
4931406B18Rik A G 7: 43,495,633 V367A possibly damaging Het
Abcb5 A T 12: 118,940,369 S200R possibly damaging Het
Adam29 T C 8: 55,873,065 D118G probably damaging Het
Adh4 A G 3: 138,429,145 D360G probably benign Het
Ankle2 A G 5: 110,251,610 Q611R possibly damaging Het
Ankra2 C T 13: 98,273,373 probably benign Het
Ap1g2 T A 14: 55,106,047 I28F probably damaging Het
Baz2a C T 10: 128,125,146 T1608I possibly damaging Het
C530008M17Rik A G 5: 76,857,616 D608G unknown Het
Cacnb4 T C 2: 52,474,882 D123G probably damaging Het
Cage1 G A 13: 38,028,147 T51M probably benign Het
Ccdc63 A G 5: 122,122,813 V216A probably benign Het
Ccnd2 A G 6: 127,148,878 V65A probably damaging Het
Chd3 T A 11: 69,354,404 T1163S possibly damaging Het
Cmbl A G 15: 31,589,677 probably benign Het
Cobl G T 11: 12,254,241 N813K possibly damaging Het
Cog5 G A 12: 31,790,922 V249M probably damaging Het
Cps1 A G 1: 67,142,921 N98S probably damaging Het
D630045J12Rik A T 6: 38,149,713 I1454N probably damaging Het
Elmo2 A G 2: 165,294,317 V603A possibly damaging Het
F12 A G 13: 55,421,519 probably benign Het
Ficd G A 5: 113,736,929 V20I probably benign Het
Gatad2b G T 3: 90,341,937 G94V probably benign Het
Gm4845 G A 1: 141,256,665 noncoding transcript Het
Hrnr G A 3: 93,320,601 V9I possibly damaging Het
Kifc3 A G 8: 95,102,412 S584P probably damaging Het
Klk1b24 C A 7: 44,191,366 Q73K probably benign Het
Lrp10 C A 14: 54,469,162 N518K possibly damaging Het
Lsr A G 7: 30,959,281 V247A possibly damaging Het
Mfsd6 A T 1: 52,709,703 M1K probably null Het
Mprip T A 11: 59,741,115 probably null Het
Myo3b G T 2: 70,426,816 probably benign Het
Olfr1019 T C 2: 85,841,072 T240A probably damaging Het
Olfr123 T A 17: 37,796,271 Y276N probably damaging Het
Olfr1463 C T 19: 13,235,054 S268L probably damaging Het
Olfr32 A T 2: 90,138,662 I159N possibly damaging Het
Olfr365 T C 2: 37,201,871 V210A probably benign Het
Oprd1 A G 4: 132,117,385 F104S possibly damaging Het
Palb2 A G 7: 122,113,256 V591A probably damaging Het
Pcdhb18 A T 18: 37,490,733 D372V probably damaging Het
Phc3 A G 3: 30,936,853 V405A probably damaging Het
Phf20l1 A T 15: 66,641,947 probably benign Het
Pik3ip1 A G 11: 3,333,259 K57E possibly damaging Het
Pkhd1l1 G A 15: 44,591,976 M4044I probably benign Het
Pkhd1l1 T C 15: 44,596,902 V4169A probably benign Het
Pklr A T 3: 89,142,656 I313F probably damaging Het
Plxna4 T A 6: 32,202,225 T952S probably benign Het
Pop4 A T 7: 38,263,306 I178N probably damaging Het
Prss40 A C 1: 34,558,101 V122G probably damaging Het
Rapgef2 C A 3: 79,074,307 probably null Het
Rbm19 A G 5: 120,131,246 D538G probably damaging Het
Rnf44 G A 13: 54,681,990 R312* probably null Het
Rock1 T C 18: 10,070,215 probably benign Het
Rrp1b A G 17: 32,056,901 E474G probably damaging Het
Ryr2 T A 13: 11,684,479 I2959F probably damaging Het
Sidt2 A G 9: 45,939,505 S801P probably damaging Het
Skint6 T C 4: 113,012,956 I602V probably benign Het
Slc6a19 C A 13: 73,700,471 V55L probably damaging Het
Smarca4 C T 9: 21,635,836 T219I probably benign Het
Trappc11 C A 8: 47,513,929 V440F probably damaging Het
Vmn1r236 G A 17: 21,286,846 W75* probably null Het
Vmn2r52 A G 7: 10,158,872 F780S probably benign Het
Vmn2r82 G T 10: 79,381,315 A494S possibly damaging Het
Wrn T A 8: 33,248,961 I1037F possibly damaging Het
Zfp13 T C 17: 23,580,845 T82A probably benign Het
Zfp82 T C 7: 30,057,465 E64G probably benign Het
Other mutations in Vwa3b
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R7117:Vwa3b UTSW 1 37135553 missense
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
Posted On2016-08-02