Incidental Mutation 'IGL02058:Wbp1l'
ID185284
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 #IGL02058
Quality Score
Status
Chromosome19
Chromosomal Location46599084-46657389 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) T to A at 46652520 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Stop codon at position 80 (C80*)
Ref Sequence ENSEMBL: ENSMUSP00000117929 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099376] [ENSMUST00000111855] [ENSMUST00000132202] [ENSMUST00000138302]
Predicted Effect probably null
Transcript: ENSMUST00000099376
AA Change: C96*
SMART Domains Protein: ENSMUSP00000096975
Gene: ENSMUSG00000047731
AA Change: C96*

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 probably null
Transcript: ENSMUST00000111855
AA Change: C59*
SMART Domains Protein: ENSMUSP00000107486
Gene: ENSMUSG00000047731
AA Change: C59*

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 probably null
Transcript: ENSMUST00000138302
AA Change: C80*
SMART Domains Protein: ENSMUSP00000117929
Gene: ENSMUSG00000047731
AA Change: C80*

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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 C A 2: 69,243,498 A1228S probably damaging Het
Adamts12 G A 15: 11,215,610 R239K probably benign Het
Akap6 A G 12: 53,140,555 D1584G probably damaging Het
Asns A G 6: 7,685,184 C158R probably damaging Het
Atr T C 9: 95,871,487 L714P probably damaging Het
Ccdc126 G T 6: 49,334,200 E47D probably benign Het
Cemip T C 7: 83,997,292 S183G probably damaging Het
Cntn3 A G 6: 102,199,360 probably benign Het
Cyp11b2 G T 15: 74,853,189 N270K probably benign Het
D230025D16Rik T A 8: 105,239,709 I105N probably damaging Het
Ephx2 A G 14: 66,103,724 probably null Het
Fcho2 G A 13: 98,730,906 T683I probably damaging Het
Grm7 G A 6: 111,358,317 C563Y probably damaging Het
Hmcn1 T C 1: 150,704,181 N1935S probably benign Het
Hus1b A G 13: 30,946,917 L253S probably benign Het
Kmt5b T C 19: 3,793,181 Y93H probably damaging Het
Krt73 A T 15: 101,802,021 S93T probably benign Het
Lrp8 T C 4: 107,870,109 V917A probably benign Het
Map2k6 C T 11: 110,492,583 T106M probably damaging Het
Ncor1 A G 11: 62,344,637 S664P probably damaging Het
Nmt1 C T 11: 103,052,290 T157I probably benign Het
Nup160 T C 2: 90,729,707 S1259P probably damaging Het
Pak1 C T 7: 97,911,115 A523V probably damaging Het
Parpbp A C 10: 88,144,036 S19R probably benign Het
Pdzd2 G T 15: 12,376,296 T1251N possibly damaging Het
Pitpnm3 A T 11: 72,120,139 N22K probably benign Het
Pkn1 G T 8: 83,681,225 C418* probably null Het
Pkn2 A G 3: 142,803,663 F723L probably damaging Het
Pkp4 C T 2: 59,311,729 R459* probably null Het
Prex1 A C 2: 166,585,183 S871A probably benign Het
Ptprz1 A G 6: 23,002,503 T1531A probably benign Het
Rad1 C A 15: 10,493,275 Q263K probably benign Het
Sh2d6 C A 6: 72,513,978 G307* probably null Het
Slc52a3 T A 2: 152,005,891 N306K probably damaging Het
Spock3 A T 8: 63,245,198 R195* probably null Het
Stil A G 4: 115,014,162 S310G probably benign Het
Wnt2b A G 3: 104,947,092 V350A probably benign Het
Other mutations in Wbp1l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01147:Wbp1l APN 19 46644369 missense probably damaging 1.00
IGL01602:Wbp1l APN 19 46654400 missense possibly damaging 0.92
IGL01605:Wbp1l APN 19 46654400 missense possibly damaging 0.92
IGL01820:Wbp1l APN 19 46652483 missense probably damaging 1.00
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 On2014-05-07