Incidental Mutation 'IGL01567:Depdc1a'
ID91009
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? Probably non essential (E-score: 0.196) question?
Stock #IGL01567
Quality Score
Status
Chromosome3
Chromosomal Location159495433-159529955 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 159526546 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 645 (S645P)
Ref Sequence ENSEMBL: ENSMUSP00000113216 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029825] [ENSMUST00000106041] [ENSMUST00000120272]
Predicted Effect probably damaging
Transcript: ENSMUST00000029825
AA Change: S645P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000029825
Gene: ENSMUSG00000028175
AA Change: S645P

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 damaging
Transcript: ENSMUST00000106041
AA Change: S368P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000101656
Gene: ENSMUSG00000028175
AA Change: S368P

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 damaging
Transcript: ENSMUST00000120272
AA Change: S645P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113216
Gene: ENSMUSG00000028175
AA Change: S645P

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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agbl1 A G 7: 76,421,880 S317G probably benign Het
Akna T C 4: 63,381,850 T652A probably benign Het
Anxa9 G A 3: 95,302,432 probably benign Het
Bpifb4 T A 2: 153,947,278 probably benign Het
Bptf A G 11: 107,058,774 S2125P probably damaging Het
Capns2 C A 8: 92,902,006 H174Q probably benign Het
Cd200 A C 16: 45,394,691 L199R probably damaging Het
Clasp2 T C 9: 113,880,096 V651A probably damaging Het
Cox18 G A 5: 90,217,588 Q251* probably null Het
Dio3 T A 12: 110,279,427 C66S possibly damaging Het
Dock9 A T 14: 121,653,084 L258Q probably damaging Het
Ghrhr A G 6: 55,384,123 D274G probably damaging Het
Gm5129 A G 5: 29,735,864 probably benign Het
Grb7 A G 11: 98,454,950 N518S probably damaging Het
Kdm5b G A 1: 134,602,540 A430T probably damaging Het
Map10 C A 8: 125,671,493 Q542K probably benign Het
Metap1 T C 3: 138,462,389 T325A probably damaging Het
Ncan A T 8: 70,108,334 M661K probably benign Het
Olfr38 T C 6: 42,762,727 I225T probably benign Het
Olfr572 A G 7: 102,928,416 I263V probably benign Het
Otog T C 7: 46,276,615 probably benign Het
Pip4k2b T C 11: 97,729,561 D116G probably damaging Het
Rps15 T A 10: 80,293,809 L86Q probably benign Het
Sfxn4 G T 19: 60,853,898 T122K probably damaging Het
Slc4a3 T C 1: 75,550,882 V165A probably damaging Het
Spata48 A G 11: 11,515,015 H122R possibly damaging Het
Synm A G 7: 67,735,232 V452A probably damaging Het
Tdpoz1 T C 3: 93,670,706 H257R possibly damaging Het
Tmem26 A G 10: 68,751,231 T170A probably damaging Het
Wdfy4 T G 14: 33,151,661 E230D probably benign 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
IGL00961:Depdc1a APN 3 159523814 missense possibly damaging 0.79
IGL01530:Depdc1a APN 3 159523923 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
R7366:Depdc1a UTSW 3 159523212 missense probably benign 0.00
X0026:Depdc1a UTSW 3 159498631 critical splice donor site probably null
Posted On2013-12-09