Incidental Mutation 'IGL01307:Vwa5b2'
ID73476
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Vwa5b2
Ensembl Gene ENSMUSG00000046613
Gene Namevon Willebrand factor A domain containing 5B2
SynonymsEG328644
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.177) question?
Stock #IGL01307
Quality Score
Status
Chromosome16
Chromosomal Location20589471-20605377 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 20604270 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 1006 (D1006G)
Ref Sequence ENSEMBL: ENSMUSP00000123727 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045918] [ENSMUST00000096197] [ENSMUST00000123774] [ENSMUST00000147867] [ENSMUST00000159780] [ENSMUST00000231362] [ENSMUST00000231386] [ENSMUST00000231387] [ENSMUST00000231471] [ENSMUST00000231531] [ENSMUST00000231749] [ENSMUST00000231904] [ENSMUST00000232319] [ENSMUST00000232451] [ENSMUST00000232458]
Predicted Effect probably benign
Transcript: ENSMUST00000045918
SMART Domains Protein: ENSMUSP00000045272
Gene: ENSMUSG00000033809

DomainStartEndE-ValueType
Pfam:ALG3 47 406 2.5e-145 PFAM
low complexity region 407 420 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000046188
Predicted Effect probably benign
Transcript: ENSMUST00000096197
AA Change: D1006G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000093911
Gene: ENSMUSG00000046613
AA Change: D1006G

DomainStartEndE-ValueType
Pfam:VIT_2 2 79 7.3e-31 PFAM
VWA 352 521 3.16e-1 SMART
low complexity region 684 706 N/A INTRINSIC
low complexity region 725 733 N/A INTRINSIC
low complexity region 744 764 N/A INTRINSIC
low complexity region 780 797 N/A INTRINSIC
low complexity region 823 833 N/A INTRINSIC
low complexity region 1032 1046 N/A INTRINSIC
low complexity region 1127 1145 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000117019
Predicted Effect probably benign
Transcript: ENSMUST00000123774
SMART Domains Protein: ENSMUSP00000123378
Gene: ENSMUSG00000033809

DomainStartEndE-ValueType
transmembrane domain 42 61 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000127454
SMART Domains Protein: ENSMUSP00000120559
Gene: ENSMUSG00000033809

DomainStartEndE-ValueType
transmembrane domain 25 47 N/A INTRINSIC
Pfam:ALG3 51 118 2.1e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000147867
Predicted Effect probably benign
Transcript: ENSMUST00000159780
AA Change: D1006G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000123727
Gene: ENSMUSG00000046613
AA Change: D1006G

DomainStartEndE-ValueType
Pfam:VIT_2 2 79 5.5e-31 PFAM
VWA 352 521 3.16e-1 SMART
low complexity region 684 706 N/A INTRINSIC
low complexity region 725 733 N/A INTRINSIC
low complexity region 744 764 N/A INTRINSIC
low complexity region 780 797 N/A INTRINSIC
low complexity region 823 833 N/A INTRINSIC
low complexity region 1032 1046 N/A INTRINSIC
low complexity region 1127 1145 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000231362
Predicted Effect probably benign
Transcript: ENSMUST00000231386
Predicted Effect probably benign
Transcript: ENSMUST00000231387
Predicted Effect probably benign
Transcript: ENSMUST00000231471
Predicted Effect probably benign
Transcript: ENSMUST00000231531
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231608
Predicted Effect probably benign
Transcript: ENSMUST00000231749
Predicted Effect probably benign
Transcript: ENSMUST00000231904
Predicted Effect probably benign
Transcript: ENSMUST00000232319
Predicted Effect probably benign
Transcript: ENSMUST00000232451
Predicted Effect probably benign
Transcript: ENSMUST00000232458
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,297,159 M2302K possibly damaging Het
Actl9 A G 17: 33,434,178 E404G probably damaging Het
Adamts12 A T 15: 11,237,546 I314L possibly damaging Het
Card6 C A 15: 5,100,002 M637I possibly damaging Het
Ccdc122 G A 14: 77,092,076 probably benign Het
Cdh10 A G 15: 18,899,800 D71G probably benign Het
Cdk15 A T 1: 59,287,796 Y214F probably benign Het
Cdon A G 9: 35,457,564 K365E probably benign Het
Cyp2c37 T C 19: 39,992,579 V47A probably benign Het
Ddc T A 11: 11,839,462 D271V probably damaging Het
Dnah6 G A 6: 73,065,725 A3290V probably damaging Het
Dtl A T 1: 191,570,699 S20T possibly damaging Het
Egf A C 3: 129,739,993 I66S probably damaging Het
Eif4a3 T C 11: 119,293,561 K268E probably damaging Het
Fam205a1 G T 4: 42,850,963 L398I probably benign Het
Fbxl16 A T 17: 25,819,364 probably benign Het
Fez2 C T 17: 78,381,600 probably benign Het
Fras1 C A 5: 96,781,692 T3985K probably benign Het
Gbp4 T C 5: 105,137,021 M1V probably null Het
Gpnmb A G 6: 49,045,365 D143G probably benign Het
Grm5 A T 7: 88,075,012 T837S probably damaging Het
Hmcn1 T C 1: 150,745,001 T1153A possibly damaging Het
Hp C T 8: 109,575,783 V178I probably benign Het
Macf1 A T 4: 123,383,129 V4061E probably damaging Het
Msto1 C A 3: 88,913,686 R34L probably benign Het
Mtf2 C T 5: 108,106,890 T519M probably damaging Het
Myo3a T A 2: 22,558,289 N25K probably damaging Het
Ncapd2 A G 6: 125,168,619 V1355A possibly damaging Het
Nhlrc2 C A 19: 56,551,799 Y73* probably null Het
Nwd2 A T 5: 63,808,283 S1737C possibly damaging Het
Olfr59 T A 11: 74,289,428 C261S possibly damaging Het
Osmr A G 15: 6,844,427 V163A probably damaging Het
Palm3 T C 8: 84,029,445 S529P possibly damaging Het
Pcnt A G 10: 76,411,588 Y1037H probably damaging Het
Pkhd1l1 T C 15: 44,530,029 I1920T possibly damaging Het
Plekha7 A G 7: 116,145,244 probably benign Het
Psd C T 19: 46,314,658 G762R probably damaging Het
Psmb8 A G 17: 34,199,236 T51A probably benign Het
Rbm12 A C 2: 156,095,382 probably benign Het
Rictor T A 15: 6,774,604 probably null Het
Slc24a5 G A 2: 125,080,880 G158S probably damaging Het
Stag1 A G 9: 100,951,788 probably benign Het
Tln2 A G 9: 67,395,467 M74T probably benign Het
Trim24 C A 6: 37,965,635 D957E possibly damaging Het
Trpa1 A T 1: 14,896,547 M531K probably benign Het
Ttn A G 2: 76,906,293 Y4376H possibly damaging Het
Twsg1 T C 17: 65,948,651 probably benign Het
Usp34 T A 11: 23,417,676 V1671E probably damaging Het
Other mutations in Vwa5b2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01543:Vwa5b2 APN 16 20595716 missense probably benign 0.02
IGL01719:Vwa5b2 APN 16 20597433 critical splice donor site probably null
IGL02006:Vwa5b2 APN 16 20597093 missense probably damaging 0.97
IGL02150:Vwa5b2 APN 16 20604826 missense probably benign
IGL02301:Vwa5b2 APN 16 20604790 missense probably damaging 1.00
IGL02373:Vwa5b2 APN 16 20604844 missense probably damaging 0.99
IGL02413:Vwa5b2 APN 16 20598101 missense probably damaging 1.00
IGL02664:Vwa5b2 APN 16 20595313 unclassified probably benign
R1171:Vwa5b2 UTSW 16 20604984 missense probably benign
R1405:Vwa5b2 UTSW 16 20604316 missense probably benign 0.00
R1405:Vwa5b2 UTSW 16 20604316 missense probably benign 0.00
R1464:Vwa5b2 UTSW 16 20596269 missense probably benign 0.08
R1464:Vwa5b2 UTSW 16 20596269 missense probably benign 0.08
R1730:Vwa5b2 UTSW 16 20600925 missense probably damaging 1.00
R1901:Vwa5b2 UTSW 16 20604832 missense possibly damaging 0.77
R1902:Vwa5b2 UTSW 16 20604832 missense possibly damaging 0.77
R1903:Vwa5b2 UTSW 16 20604832 missense possibly damaging 0.77
R1959:Vwa5b2 UTSW 16 20602191 critical splice donor site probably null
R1961:Vwa5b2 UTSW 16 20602191 critical splice donor site probably null
R3522:Vwa5b2 UTSW 16 20601608 missense probably damaging 0.99
R3687:Vwa5b2 UTSW 16 20591558 unclassified probably benign
R3746:Vwa5b2 UTSW 16 20598326 intron probably benign
R3747:Vwa5b2 UTSW 16 20598326 intron probably benign
R3749:Vwa5b2 UTSW 16 20598326 intron probably benign
R3952:Vwa5b2 UTSW 16 20598361 makesense probably null
R4641:Vwa5b2 UTSW 16 20604643 missense probably damaging 1.00
R4646:Vwa5b2 UTSW 16 20596329 missense probably damaging 1.00
R4772:Vwa5b2 UTSW 16 20600803 splice site probably null
R5032:Vwa5b2 UTSW 16 20600709 missense probably damaging 1.00
R5286:Vwa5b2 UTSW 16 20596308 missense probably damaging 1.00
R5569:Vwa5b2 UTSW 16 20595339 missense probably damaging 1.00
R5585:Vwa5b2 UTSW 16 20594678 nonsense probably null
R5640:Vwa5b2 UTSW 16 20597542 missense probably damaging 1.00
R6330:Vwa5b2 UTSW 16 20601977 missense probably damaging 1.00
R6459:Vwa5b2 UTSW 16 20594679 missense probably damaging 0.98
R6992:Vwa5b2 UTSW 16 20598202 missense probably damaging 1.00
R7102:Vwa5b2 UTSW 16 20604234 missense probably benign 0.00
R7231:Vwa5b2 UTSW 16 20604128 missense probably benign 0.00
Posted On2013-10-07