Incidental Mutation 'IGL01602:Wbp1l'
ID278767
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Wbp1l
Ensembl Gene ENSMUSG00000047731
Gene NameWW domain binding protein 1 like
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01602
Quality Score
Status
Chromosome19
Chromosomal Location46599084-46657389 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 46654400 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 264 (D264G)
Ref Sequence ENSEMBL: ENSMUSP00000117929 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099376] [ENSMUST00000111855] [ENSMUST00000132202] [ENSMUST00000138302]
Predicted Effect probably damaging
Transcript: ENSMUST00000099376
AA Change: D280G

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000096975
Gene: ENSMUSG00000047731
AA Change: D280G

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Pfam:WBP-1 59 160 1.2e-52 PFAM
low complexity region 163 214 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000111855
AA Change: D243G

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000107486
Gene: ENSMUSG00000047731
AA Change: D243G

DomainStartEndE-ValueType
Pfam:WBP-1 22 123 1.1e-52 PFAM
low complexity region 126 177 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000132202
SMART Domains Protein: ENSMUSP00000121821
Gene: ENSMUSG00000047731

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Pfam:WBP-1 43 72 1.7e-9 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000138302
AA Change: D264G

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000117929
Gene: ENSMUSG00000047731
AA Change: D264G

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Pfam:WBP-1 43 144 1.2e-52 PFAM
low complexity region 147 198 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156649
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts17 A T 7: 66,888,411 M242L probably benign Het
Brip1 T A 11: 86,062,004 T984S possibly damaging Het
Cdh17 T C 4: 11,795,670 Y417H probably damaging Het
Chd7 T A 4: 8,833,834 I1196N probably damaging Het
Cyp3a57 T C 5: 145,387,044 F447S probably damaging Het
Dnah12 C T 14: 26,710,275 probably benign Het
Dock8 C T 19: 25,089,888 probably benign Het
Fam163b A G 2: 27,112,676 F103S probably damaging Het
G0s2 A G 1: 193,272,656 L40P probably damaging Het
Gm2046 A T 12: 87,973,760 noncoding transcript Het
Gucy1b1 C T 3: 82,035,353 R494Q probably benign Het
Hsd17b1 T C 11: 101,078,929 V89A probably damaging Het
Iqcg T C 16: 33,016,978 probably benign Het
Lmo7 T C 14: 101,910,756 probably benign Het
Mmp17 A G 5: 129,601,944 D331G probably benign Het
Mnx1 T C 5: 29,477,593 D228G unknown Het
Msantd2 A G 9: 37,517,440 E101G probably benign Het
Msh2 T C 17: 87,696,489 probably benign Het
Pabpc1 A G 15: 36,599,306 Y382H probably benign Het
Prl7b1 A G 13: 27,602,044 S214P possibly damaging Het
Rbpj-ps3 T C 6: 46,530,091 probably benign Het
Sgsm1 A T 5: 113,285,665 M162K possibly damaging Het
Skint2 A G 4: 112,625,994 T199A probably benign Het
Slc24a1 T A 9: 64,926,181 D1044V probably damaging Het
Stim1 A G 7: 102,386,115 D100G possibly damaging Het
Taar5 C T 10: 23,971,064 T120I probably benign Het
Trhde A G 10: 114,787,943 V352A probably benign Het
Ubap2 T A 4: 41,227,237 D160V probably damaging Het
Vmn2r18 A G 5: 151,586,641 V89A possibly damaging Het
Other mutations in Wbp1l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01147:Wbp1l APN 19 46644369 missense probably damaging 1.00
IGL01605:Wbp1l APN 19 46654400 missense possibly damaging 0.92
IGL01820:Wbp1l APN 19 46652483 missense probably damaging 1.00
IGL02058:Wbp1l APN 19 46652520 nonsense probably null
IGL02117:Wbp1l APN 19 46644437 missense probably benign 0.26
IGL02245:Wbp1l APN 19 46654618 missense possibly damaging 0.52
IGL02321:Wbp1l APN 19 46654310 missense probably benign 0.01
IGL03126:Wbp1l APN 19 46644399 missense probably damaging 0.96
PIT4810001:Wbp1l UTSW 19 46654322 missense probably benign 0.07
R0610:Wbp1l UTSW 19 46654670 missense probably damaging 1.00
R1636:Wbp1l UTSW 19 46644444 missense probably damaging 1.00
R3978:Wbp1l UTSW 19 46653957 splice site probably null
R3980:Wbp1l UTSW 19 46653957 splice site probably null
R5387:Wbp1l UTSW 19 46644457 critical splice donor site probably null
R5524:Wbp1l UTSW 19 46654256 missense possibly damaging 0.94
R5889:Wbp1l UTSW 19 46654180 nonsense probably null
R5935:Wbp1l UTSW 19 46654180 nonsense probably null
R5942:Wbp1l UTSW 19 46654430 missense probably damaging 1.00
R5964:Wbp1l UTSW 19 46654180 nonsense probably null
R5966:Wbp1l UTSW 19 46654180 nonsense probably null
R6480:Wbp1l UTSW 19 46654319 missense probably damaging 0.96
R7290:Wbp1l UTSW 19 46623437 intron probably benign
R7297:Wbp1l UTSW 19 46654400 missense possibly damaging 0.92
R7363:Wbp1l UTSW 19 46654130 missense possibly damaging 0.52
Posted On2015-04-16