Incidental Mutation 'IGL01778:Depdc1b'
ID153755
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: 0.092) question?
Stock #IGL01778
Quality Score
Status
Chromosome13
Chromosomal Location108316332-108407782 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 108362327 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 181 (N181K)
Ref Sequence ENSEMBL: ENSMUSP00000131707 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051594] [ENSMUST00000163307] [ENSMUST00000171178]
Predicted Effect probably benign
Transcript: ENSMUST00000051594
AA Change: N181K

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000059291
Gene: ENSMUSG00000021697
AA Change: N181K

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: N181K

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000131707
Gene: ENSMUSG00000021697
AA Change: N181K

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: N181K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000132972
Gene: ENSMUSG00000021697
AA Change: N181K

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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actrt2 T C 4: 154,666,705 K325E probably benign Het
Arc C T 15: 74,672,355 M6I probably benign Het
Atp7b A T 8: 21,994,828 D1404E probably benign Het
BC030867 T C 11: 102,255,596 C233R probably benign Het
Cdk5rap1 T A 2: 154,366,036 N156I probably damaging Het
Ctsa T C 2: 164,834,310 probably benign Het
Epg5 T C 18: 78,019,274 V1994A probably damaging Het
Epyc T A 10: 97,681,237 C312* probably null Het
Erv3 T A 2: 131,855,957 R161* probably null Het
Fhdc1 G A 3: 84,444,735 A1061V possibly damaging Het
Gfra3 T C 18: 34,691,591 T280A possibly damaging Het
Gldn A T 9: 54,334,492 probably null Het
Gm6768 T C 12: 119,262,496 noncoding transcript Het
Gtf3c4 G A 2: 28,835,088 R211C probably damaging Het
Hsh2d A G 8: 72,193,507 D16G probably damaging Het
Klk15 T A 7: 43,938,838 M190K probably damaging Het
Klri1 A G 6: 129,717,047 S26P possibly damaging Het
Krt78 T A 15: 101,950,967 D265V probably damaging Het
Lgr5 A C 10: 115,462,702 I355S probably damaging Het
Lig3 T A 11: 82,794,541 V595D probably damaging Het
Map2k6 A C 11: 110,512,869 probably benign Het
Mdm4 A G 1: 132,994,547 S286P probably benign Het
Olfr320 A G 11: 58,684,269 Y132C probably damaging Het
Pofut1 T A 2: 153,248,528 M114K probably damaging Het
Rdh13 C T 7: 4,430,389 probably null Het
Reg3g T A 6: 78,466,833 I131F probably benign Het
Slc26a4 C T 12: 31,528,854 probably benign Het
Slc8a2 T A 7: 16,158,893 F827I probably damaging Het
Slfn9 A T 11: 82,987,374 C310S probably damaging Het
Sypl A G 12: 32,975,642 Y235C probably damaging Het
Trav7-4 A T 14: 53,461,641 T82S possibly damaging Het
Trim28 T A 7: 13,030,702 V782D probably damaging Het
Ttn G A 2: 76,744,898 T25217M probably damaging Het
Usp6nl A G 2: 6,427,570 T260A possibly damaging Het
Vmn2r54 A T 7: 12,632,082 N308K probably benign Het
Xdh T C 17: 73,900,280 E986G probably benign Het
Zfp770 T C 2: 114,196,238 D450G probably damaging Het
Zw10 T G 9: 49,069,615 S438R probably benign Het
Other mutations in Depdc1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00475:Depdc1b APN 13 108357440 missense probably benign
IGL01071:Depdc1b APN 13 108357441 missense probably benign
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
R8552:Depdc1b UTSW 13 108357425 missense probably damaging 1.00
Posted On2014-02-04