Incidental Mutation 'IGL02117:Wbp1l'
ID 280441
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Wbp1l
Ensembl Gene ENSMUSG00000047731
Gene Name WW domain binding protein 1 like
Synonyms D19Wsu162e
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02117
Quality Score
Status
Chromosome 19
Chromosomal Location 46587545-46645828 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 46632876 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 75 (Y75H)
Ref Sequence ENSEMBL: ENSMUSP00000096975 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099376] [ENSMUST00000111855] [ENSMUST00000132202] [ENSMUST00000138302]
AlphaFold Q8BGW2
Predicted Effect probably benign
Transcript: ENSMUST00000099376
AA Change: Y75H

PolyPhen 2 Score 0.265 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000096975
Gene: ENSMUSG00000047731
AA Change: Y75H

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 benign
Transcript: ENSMUST00000111855
AA Change: Y38H

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000107486
Gene: ENSMUSG00000047731
AA Change: Y38H

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
AA Change: Y59H

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000121821
Gene: ENSMUSG00000047731
AA Change: Y59H

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Pfam:WBP-1 43 72 1.7e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000138302
AA Change: Y59H

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000117929
Gene: ENSMUSG00000047731
AA Change: Y59H

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175937
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921509C19Rik T A 2: 151,315,466 (GRCm39) M71L probably benign Het
Abcb11 A G 2: 69,154,169 (GRCm39) probably benign Het
Ago4 T C 4: 126,410,645 (GRCm39) T249A probably benign Het
Ahr A T 12: 35,562,922 (GRCm39) C92* probably null Het
Arhgap17 G A 7: 122,885,996 (GRCm39) probably benign Het
Arid1a G T 4: 133,420,126 (GRCm39) T992K unknown Het
Camk2a A G 18: 61,111,061 (GRCm39) I83M probably damaging Het
Ccdc154 T C 17: 25,386,792 (GRCm39) probably null Het
Chtf18 T C 17: 25,941,177 (GRCm39) H607R possibly damaging Het
Col25a1 T C 3: 130,313,422 (GRCm39) probably benign Het
Col9a1 C T 1: 24,276,574 (GRCm39) Q530* probably null Het
Cryl1 G T 14: 57,523,904 (GRCm39) D219E probably damaging Het
Cul3 A T 1: 80,300,781 (GRCm39) probably benign Het
Cul9 C A 17: 46,851,301 (GRCm39) R373L probably benign Het
Exo1 A G 1: 175,721,309 (GRCm39) Y316C possibly damaging Het
Fam114a1 G A 5: 65,187,465 (GRCm39) V408M probably benign Het
Hmcn2 A T 2: 31,347,185 (GRCm39) S4792C possibly damaging Het
Hps5 A G 7: 46,432,940 (GRCm39) F260S probably damaging Het
Hrh4 T C 18: 13,155,477 (GRCm39) S339P probably benign Het
Ist1 A T 8: 110,405,584 (GRCm39) L152Q probably damaging Het
Marco A G 1: 120,418,683 (GRCm39) V190A probably benign Het
Mdn1 T C 4: 32,709,364 (GRCm39) V1711A probably benign Het
Mmp9 A G 2: 164,791,644 (GRCm39) Y179C probably damaging Het
Mrgprb5 A G 7: 47,818,742 (GRCm39) probably benign Het
Mrgprx1 G T 7: 47,671,371 (GRCm39) C125* probably null Het
Msh6 A G 17: 88,298,234 (GRCm39) probably benign Het
Myot C A 18: 44,488,177 (GRCm39) R441S probably benign Het
Or11g7 A G 14: 50,691,399 (GRCm39) R297G possibly damaging Het
Paf1 A G 7: 28,098,115 (GRCm39) probably benign Het
Pde11a A G 2: 75,821,606 (GRCm39) L891P probably damaging Het
Prkar2a T A 9: 108,596,460 (GRCm39) I135N probably damaging Het
Rap1gap C T 4: 137,454,355 (GRCm39) T646M probably damaging Het
Rgs7bp T C 13: 105,088,087 (GRCm39) D229G possibly damaging Het
Rhobtb3 C T 13: 76,025,547 (GRCm39) S523N probably damaging Het
Setd7 A T 3: 51,428,826 (GRCm39) Y335N probably damaging Het
Setdb2 C T 14: 59,639,764 (GRCm39) R709Q probably damaging Het
Socs4 T C 14: 47,528,264 (GRCm39) Y400H probably damaging Het
Spag16 A T 1: 69,909,479 (GRCm39) H192L probably damaging Het
Ssh1 A T 5: 114,084,541 (GRCm39) C566* probably null Het
Stap1 T G 5: 86,234,552 (GRCm39) I98S possibly damaging Het
Tgs1 C T 4: 3,585,836 (GRCm39) H238Y probably damaging Het
Tifab T C 13: 56,324,275 (GRCm39) Y56C probably benign Het
Tssk2 A G 16: 17,717,653 (GRCm39) E352G probably benign Het
Vmn2r57 A T 7: 41,049,874 (GRCm39) V625D probably benign Het
Wnt5a T C 14: 28,228,077 (GRCm39) probably benign Het
Other mutations in Wbp1l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01147:Wbp1l APN 19 46,632,808 (GRCm39) missense probably damaging 1.00
IGL01602:Wbp1l APN 19 46,642,839 (GRCm39) missense possibly damaging 0.92
IGL01605:Wbp1l APN 19 46,642,839 (GRCm39) missense possibly damaging 0.92
IGL01820:Wbp1l APN 19 46,640,922 (GRCm39) missense probably damaging 1.00
IGL02058:Wbp1l APN 19 46,640,959 (GRCm39) nonsense probably null
IGL02245:Wbp1l APN 19 46,643,057 (GRCm39) missense possibly damaging 0.52
IGL02321:Wbp1l APN 19 46,642,749 (GRCm39) missense probably benign 0.01
IGL03126:Wbp1l APN 19 46,632,838 (GRCm39) missense probably damaging 0.96
PIT4810001:Wbp1l UTSW 19 46,642,761 (GRCm39) missense probably benign 0.07
R0610:Wbp1l UTSW 19 46,643,109 (GRCm39) missense probably damaging 1.00
R1636:Wbp1l UTSW 19 46,632,883 (GRCm39) missense probably damaging 1.00
R3978:Wbp1l UTSW 19 46,642,396 (GRCm39) splice site probably null
R3980:Wbp1l UTSW 19 46,642,396 (GRCm39) splice site probably null
R5387:Wbp1l UTSW 19 46,632,896 (GRCm39) critical splice donor site probably null
R5524:Wbp1l UTSW 19 46,642,695 (GRCm39) missense possibly damaging 0.94
R5889:Wbp1l UTSW 19 46,642,619 (GRCm39) nonsense probably null
R5935:Wbp1l UTSW 19 46,642,619 (GRCm39) nonsense probably null
R5942:Wbp1l UTSW 19 46,642,869 (GRCm39) missense probably damaging 1.00
R5964:Wbp1l UTSW 19 46,642,619 (GRCm39) nonsense probably null
R5966:Wbp1l UTSW 19 46,642,619 (GRCm39) nonsense probably null
R6480:Wbp1l UTSW 19 46,642,758 (GRCm39) missense probably damaging 0.96
R7290:Wbp1l UTSW 19 46,611,876 (GRCm39) intron probably benign
R7297:Wbp1l UTSW 19 46,642,839 (GRCm39) missense possibly damaging 0.92
R7363:Wbp1l UTSW 19 46,642,569 (GRCm39) missense possibly damaging 0.52
R8493:Wbp1l UTSW 19 46,640,988 (GRCm39) missense possibly damaging 0.75
R9178:Wbp1l UTSW 19 46,640,933 (GRCm39) missense probably benign
Posted On 2015-04-16