Incidental Mutation 'IGL00961:Depdc1a'
ID27144
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Depdc1a
Ensembl Gene ENSMUSG00000028175
Gene NameDEP domain containing 1a
Synonyms5830484J08Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.296) question?
Stock #IGL00961
Quality Score
Status
Chromosome3
Chromosomal Location159495433-159529955 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 159523814 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 594 (N594K)
Ref Sequence ENSEMBL: ENSMUSP00000029825 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029825] [ENSMUST00000106041] [ENSMUST00000120272]
Predicted Effect possibly damaging
Transcript: ENSMUST00000029825
AA Change: N594K

PolyPhen 2 Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000029825
Gene: ENSMUSG00000028175
AA Change: N594K

DomainStartEndE-ValueType
DEP 24 108 3.51e-24 SMART
low complexity region 505 524 N/A INTRINSIC
low complexity region 542 553 N/A INTRINSIC
SCOP:d1f7ca_ 584 680 3e-9 SMART
low complexity region 745 762 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106041
AA Change: N317K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000101656
Gene: ENSMUSG00000028175
AA Change: N317K

DomainStartEndE-ValueType
DEP 24 108 3.51e-24 SMART
Pfam:RhoGAP 251 357 2.3e-11 PFAM
coiled coil region 460 488 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000120272
AA Change: N594K

PolyPhen 2 Score 0.277 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000113216
Gene: ENSMUSG00000028175
AA Change: N594K

DomainStartEndE-ValueType
DEP 24 108 3.51e-24 SMART
low complexity region 505 524 N/A INTRINSIC
low complexity region 542 553 N/A INTRINSIC
SCOP:d1f7ca_ 584 680 4e-9 SMART
coiled coil region 737 765 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921522P10Rik C A 8: 8,663,425 probably benign Het
Arfgef3 T A 10: 18,611,237 I1350F probably damaging Het
Arfip1 A G 3: 84,497,788 V236A probably benign Het
Bicc1 A G 10: 70,961,157 I124T probably damaging Het
Cacnb4 T A 2: 52,477,712 I82F possibly damaging Het
Card11 A T 5: 140,899,709 M365K probably damaging Het
Chd2 A G 7: 73,444,249 S1560P probably damaging Het
Dmbx1 A T 4: 115,920,006 V215E probably benign Het
Farp2 A T 1: 93,621,313 E1047V possibly damaging Het
Gm21759 A T 5: 8,179,731 probably benign Het
Gpr182 C T 10: 127,750,690 V131I probably benign Het
Irx1 T C 13: 71,959,957 D202G probably damaging Het
Lrp6 T C 6: 134,507,646 D338G probably damaging Het
Nrxn3 A T 12: 90,204,546 I241L possibly damaging Het
Parp6 A G 9: 59,632,959 Y265C probably damaging Het
Prex1 G T 2: 166,585,736 Q999K probably damaging Het
Rad54b T C 4: 11,599,699 I301T probably damaging Het
Rnf213 A T 11: 119,440,843 I2294F possibly damaging Het
Ska3 T C 14: 57,822,124 I81M possibly damaging Het
Smap1 T C 1: 23,848,274 N308S probably benign Het
Stag3 A G 5: 138,298,349 K490E probably benign Het
Stk11ip C T 1: 75,530,266 R664C probably damaging Het
Tmem176b T A 6: 48,834,070 I259F possibly damaging Het
Usp37 T C 1: 74,490,155 T122A probably benign Het
Vmn2r7 T C 3: 64,715,813 E453G possibly damaging Het
Other mutations in Depdc1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00577:Depdc1a APN 3 159522738 nonsense probably null
IGL00581:Depdc1a APN 3 159526552 missense probably benign 0.12
IGL01530:Depdc1a APN 3 159523923 missense probably damaging 1.00
IGL01567:Depdc1a APN 3 159526546 missense probably damaging 1.00
IGL02320:Depdc1a APN 3 159516933 missense probably damaging 0.99
IGL02622:Depdc1a APN 3 159515510 missense probably benign 0.02
IGL02647:Depdc1a APN 3 159522866 missense probably damaging 1.00
P0033:Depdc1a UTSW 3 159516141 missense probably damaging 0.99
P4717OSA:Depdc1a UTSW 3 159522547 missense probably damaging 1.00
P4748:Depdc1a UTSW 3 159522547 missense probably damaging 1.00
R0220:Depdc1a UTSW 3 159523905 missense probably benign 0.06
R0454:Depdc1a UTSW 3 159516900 splice site probably null
R0479:Depdc1a UTSW 3 159520860 missense probably damaging 1.00
R1317:Depdc1a UTSW 3 159523287 missense probably damaging 1.00
R1452:Depdc1a UTSW 3 159526691 missense possibly damaging 0.88
R1567:Depdc1a UTSW 3 159522540 missense possibly damaging 0.86
R1669:Depdc1a UTSW 3 159522924 missense probably benign 0.07
R1751:Depdc1a UTSW 3 159523287 missense probably damaging 1.00
R2332:Depdc1a UTSW 3 159523866 missense probably damaging 1.00
R4023:Depdc1a UTSW 3 159516149 splice site probably null
R4254:Depdc1a UTSW 3 159498487 missense probably damaging 0.99
R4551:Depdc1a UTSW 3 159522584 missense probably damaging 1.00
R4780:Depdc1a UTSW 3 159526706 missense probably benign 0.00
R4782:Depdc1a UTSW 3 159526636 missense probably damaging 1.00
R4866:Depdc1a UTSW 3 159516127 missense probably damaging 0.96
R4981:Depdc1a UTSW 3 159523913 missense probably benign 0.14
R5100:Depdc1a UTSW 3 159515520 missense probably benign 0.06
R5326:Depdc1a UTSW 3 159526649 missense probably damaging 1.00
R5367:Depdc1a UTSW 3 159523954 splice site probably null
R5892:Depdc1a UTSW 3 159526669 missense probably damaging 1.00
R6314:Depdc1a UTSW 3 159498414 missense probably damaging 1.00
R6467:Depdc1a UTSW 3 159516042 missense probably benign 0.00
R6674:Depdc1a UTSW 3 159526707 missense probably benign 0.00
R7061:Depdc1a UTSW 3 159522852 missense possibly damaging 0.74
X0026:Depdc1a UTSW 3 159498631 critical splice donor site probably null
Posted On2013-04-17