Incidental Mutation 'IGL01071:Depdc1b'
ID52532
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Depdc1b
Ensembl Gene ENSMUSG00000021697
Gene NameDEP domain containing 1B
SynonymsXTP1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.074) question?
Stock #IGL01071
Quality Score
Status
Chromosome13
Chromosomal Location108316332-108407782 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 108357441 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 121 (Y121F)
Ref Sequence ENSEMBL: ENSMUSP00000132972 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051594] [ENSMUST00000163307] [ENSMUST00000171178]
Predicted Effect probably benign
Transcript: ENSMUST00000051594
AA Change: Y121F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000059291
Gene: ENSMUSG00000021697
AA Change: Y121F

DomainStartEndE-ValueType
DEP 24 108 4.36e-20 SMART
Pfam:RhoGAP 267 347 8.3e-10 PFAM
low complexity region 464 480 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000163307
AA Change: Y121F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000131707
Gene: ENSMUSG00000021697
AA Change: Y121F

DomainStartEndE-ValueType
DEP 24 108 4.36e-20 SMART
Pfam:RhoGAP 264 347 7.9e-10 PFAM
low complexity region 464 480 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000167413
Predicted Effect probably benign
Transcript: ENSMUST00000171178
AA Change: Y121F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000132972
Gene: ENSMUSG00000021697
AA Change: Y121F

DomainStartEndE-ValueType
DEP 24 108 4.36e-20 SMART
Pfam:RhoGAP 264 347 9.1e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172402
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930544G11Rik A C 6: 65,953,153 D124A probably damaging Het
Arhgef17 C A 7: 100,885,700 V1137L probably damaging Het
Birc6 A G 17: 74,566,132 D462G possibly damaging Het
Birc6 A T 17: 74,631,701 N2701Y probably damaging Het
Cadps C T 14: 12,509,091 probably null Het
Camk2a T C 18: 60,980,156 probably null Het
Capn10 T A 1: 92,945,075 W508R probably damaging Het
Cntn3 A T 6: 102,420,251 probably null Het
Crisp4 A G 1: 18,137,007 V19A probably benign Het
Dsg1b T A 18: 20,409,215 S926R probably damaging Het
Eml6 A G 11: 29,850,816 probably null Het
Fam208a T A 14: 27,442,622 probably null Het
Gm26938 A C 5: 139,808,473 V117G possibly damaging Het
Keg1 T A 19: 12,719,000 Y183N probably damaging Het
Mpi A T 9: 57,550,592 I109N probably damaging Het
Olfr1217 A G 2: 89,023,175 V276A probably benign Het
Olfr305 T C 7: 86,363,560 K259R possibly damaging Het
Olfr53 C T 7: 140,652,914 H312Y possibly damaging Het
Olfr530 C T 7: 140,373,185 A142T probably benign Het
Pcdhb20 A G 18: 37,504,685 E88G possibly damaging Het
Pde6b G A 5: 108,419,715 W290* probably null Het
Phf20 T A 2: 156,294,088 probably null Het
Pkd1l1 A T 11: 8,848,921 H1830Q probably benign Het
Proc T C 18: 32,123,717 D299G probably damaging Het
Psmd14 A G 2: 61,800,063 T306A probably benign Het
Rab32 G A 10: 10,557,847 A81V probably damaging Het
Samd14 G A 11: 95,021,468 probably benign Het
Sh3rf1 T A 8: 61,225,959 C12S probably damaging Het
Sipa1l3 C T 7: 29,324,220 V663M possibly damaging Het
Slc2a5 A G 4: 150,120,733 probably benign Het
Tbkbp1 T C 11: 97,149,562 I9V probably damaging Het
Trip10 C A 17: 57,254,332 R196S possibly damaging Het
Vav1 T C 17: 57,299,176 Y267H probably benign Het
Wdr1 T C 5: 38,530,067 K207R probably benign Het
Other mutations in Depdc1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00475:Depdc1b APN 13 108357440 missense probably benign
IGL01778:Depdc1b APN 13 108362327 missense probably benign 0.02
IGL02368:Depdc1b APN 13 108363579 missense probably benign
R0310:Depdc1b UTSW 13 108373841 missense possibly damaging 0.88
R0483:Depdc1b UTSW 13 108373848 missense probably benign 0.03
R0650:Depdc1b UTSW 13 108323909 missense probably damaging 1.00
R0900:Depdc1b UTSW 13 108362260 missense possibly damaging 0.68
R0932:Depdc1b UTSW 13 108386835 missense probably benign 0.23
R1757:Depdc1b UTSW 13 108323948 missense probably damaging 1.00
R2174:Depdc1b UTSW 13 108362253 nonsense probably null
R2308:Depdc1b UTSW 13 108373841 missense possibly damaging 0.88
R3941:Depdc1b UTSW 13 108368836 missense probably damaging 1.00
R4213:Depdc1b UTSW 13 108388691 missense probably damaging 1.00
R4613:Depdc1b UTSW 13 108363643 missense probably damaging 1.00
R4771:Depdc1b UTSW 13 108382900 missense probably benign 0.14
R5224:Depdc1b UTSW 13 108384820 missense probably damaging 1.00
R5292:Depdc1b UTSW 13 108373842 missense probably damaging 0.99
R6241:Depdc1b UTSW 13 108324119 missense possibly damaging 0.78
R6399:Depdc1b UTSW 13 108324046 missense probably damaging 1.00
R6418:Depdc1b UTSW 13 108357422 missense probably damaging 0.97
R7078:Depdc1b UTSW 13 108386971 missense possibly damaging 0.93
R7120:Depdc1b UTSW 13 108362247 missense probably benign 0.01
R7127:Depdc1b UTSW 13 108323928 missense probably damaging 1.00
R7209:Depdc1b UTSW 13 108382855 missense possibly damaging 0.55
R7385:Depdc1b UTSW 13 108363632 missense probably damaging 1.00
R8098:Depdc1b UTSW 13 108324059 missense probably damaging 0.97
Posted On2013-06-21