Incidental Mutation 'IGL01456:Ap5z1'
ID84783
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ap5z1
Ensembl Gene ENSMUSG00000039623
Gene Nameadaptor-related protein complex 5, zeta 1 subunit
SynonymsC330006K01Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.189) question?
Stock #IGL01456
Quality Score
Status
Chromosome5
Chromosomal Location142463944-142478710 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 142468036 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 175 (L175P)
Ref Sequence ENSEMBL: ENSMUSP00000143179 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038699] [ENSMUST00000196055] [ENSMUST00000197173] [ENSMUST00000198967]
Predicted Effect possibly damaging
Transcript: ENSMUST00000038699
AA Change: L175P

PolyPhen 2 Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000041863
Gene: ENSMUSG00000039623
AA Change: L175P

DomainStartEndE-ValueType
low complexity region 271 294 N/A INTRINSIC
Pfam:SPG48 319 437 2.9e-45 PFAM
low complexity region 579 584 N/A INTRINSIC
low complexity region 617 628 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000196055
AA Change: L175P

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000143179
Gene: ENSMUSG00000039623
AA Change: L175P

DomainStartEndE-ValueType
low complexity region 271 294 N/A INTRINSIC
Pfam:SPG48 318 758 2.6e-181 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196405
Predicted Effect probably benign
Transcript: ENSMUST00000197173
SMART Domains Protein: ENSMUSP00000142777
Gene: ENSMUSG00000039623

DomainStartEndE-ValueType
low complexity region 74 93 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198135
Predicted Effect probably benign
Transcript: ENSMUST00000198967
SMART Domains Protein: ENSMUSP00000143040
Gene: ENSMUSG00000039623

DomainStartEndE-ValueType
low complexity region 44 54 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene was identified by genome-wide screen for genes involved in homologous recombination DNA double-strand break repair (HR-DSBR). The encoded protein was found in a complex with other proteins that have a role in HR-DSBR. Knockdown of this gene reduced homologous recombination, and mutations in this gene were found in patients with spastic paraplegia. It was concluded that this gene likely encodes a helicase (PMID:20613862). [provided by RefSeq, Jan 2011]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam6b T A 12: 113,491,463 D633E probably benign Het
Akap13 T C 7: 75,602,847 C242R probably damaging Het
Arid1b A G 17: 5,291,235 E938G probably damaging Het
Arid4a A G 12: 71,067,262 N208D probably benign Het
Atr A G 9: 95,950,565 H2556R possibly damaging Het
Cald1 A T 6: 34,764,996 D438V probably damaging Het
Dcbld2 C T 16: 58,408,873 P40S possibly damaging Het
Dock8 G A 19: 25,119,499 M590I possibly damaging Het
Gm1818 A T 12: 48,555,800 noncoding transcript Het
Hace1 A G 10: 45,709,998 probably benign Het
Igkv10-96 A G 6: 68,632,102 Y70H probably benign Het
Kdm2a G T 19: 4,351,755 H200Q probably damaging Het
Ldha A G 7: 46,850,178 D111G possibly damaging Het
Map7 A G 10: 20,273,804 E567G unknown Het
Nbeal1 G T 1: 60,230,628 L375F probably damaging Het
Nectin3 T C 16: 46,458,853 E254G probably benign Het
Nlrp4b A T 7: 10,714,223 I118F probably benign Het
Pkhd1 A T 1: 20,199,459 V3287D probably damaging Het
Ptpre T G 7: 135,669,802 V375G probably damaging Het
Rabgap1 A G 2: 37,541,175 E746G probably damaging Het
Sh2b2 C T 5: 136,224,467 C311Y probably damaging Het
Skor1 G A 9: 63,145,490 T399I probably damaging Het
Sptbn2 A G 19: 4,746,749 T1792A probably damaging Het
Tiparp G T 3: 65,552,609 G442* probably null Het
Tln1 G A 4: 43,543,432 probably benign Het
Tmc7 C A 7: 118,547,310 probably benign Het
Top2a A T 11: 99,011,030 L458Q probably damaging Het
Tpte A G 8: 22,345,052 probably benign Het
Unc13a G A 8: 71,644,567 R1228W probably damaging Het
Vipr1 C T 9: 121,665,178 T275M probably damaging Het
Vmn1r177 G T 7: 23,866,328 P41Q possibly damaging Het
Vmn2r4 A T 3: 64,406,395 N388K probably damaging Het
Other mutations in Ap5z1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01382:Ap5z1 APN 5 142472251 missense probably benign 0.02
IGL01656:Ap5z1 APN 5 142470314 missense probably benign 0.10
IGL02079:Ap5z1 APN 5 142477113 critical splice donor site probably null
IGL02134:Ap5z1 APN 5 142474459 missense probably benign 0.09
IGL02662:Ap5z1 APN 5 142476889 splice site probably null
IGL02805:Ap5z1 APN 5 142470283 unclassified probably benign
R0057:Ap5z1 UTSW 5 142470389 unclassified probably benign
R0057:Ap5z1 UTSW 5 142470389 unclassified probably benign
R0094:Ap5z1 UTSW 5 142476812 missense probably benign 0.00
R0395:Ap5z1 UTSW 5 142470562 unclassified probably benign
R0811:Ap5z1 UTSW 5 142475791 missense probably benign 0.00
R0812:Ap5z1 UTSW 5 142475791 missense probably benign 0.00
R1241:Ap5z1 UTSW 5 142470114 missense probably damaging 1.00
R1248:Ap5z1 UTSW 5 142474500 missense probably benign 0.02
R1374:Ap5z1 UTSW 5 142470458 missense probably damaging 1.00
R1616:Ap5z1 UTSW 5 142472236 missense probably benign 0.10
R1923:Ap5z1 UTSW 5 142472341 missense probably benign 0.30
R2423:Ap5z1 UTSW 5 142476777 missense probably benign 0.02
R3790:Ap5z1 UTSW 5 142470413 missense probably benign
R4859:Ap5z1 UTSW 5 142473993 missense possibly damaging 0.75
R4965:Ap5z1 UTSW 5 142467676 missense probably damaging 1.00
R5147:Ap5z1 UTSW 5 142466510 missense probably benign 0.02
R5311:Ap5z1 UTSW 5 142467687 missense possibly damaging 0.79
R5531:Ap5z1 UTSW 5 142467781 missense probably benign
R5569:Ap5z1 UTSW 5 142474451 missense probably damaging 0.99
R5725:Ap5z1 UTSW 5 142468976 missense probably damaging 1.00
R7287:Ap5z1 UTSW 5 142474047 missense probably damaging 0.99
R7407:Ap5z1 UTSW 5 142466575 missense probably benign 0.06
R7537:Ap5z1 UTSW 5 142477298 missense probably benign 0.06
R7894:Ap5z1 UTSW 5 142466284 missense probably benign 0.34
R7894:Ap5z1 UTSW 5 142470436 nonsense probably null
R7895:Ap5z1 UTSW 5 142470558 critical splice donor site probably null
R7977:Ap5z1 UTSW 5 142466284 missense probably benign 0.34
R7977:Ap5z1 UTSW 5 142470436 nonsense probably null
R7978:Ap5z1 UTSW 5 142470558 critical splice donor site probably null
R8022:Ap5z1 UTSW 5 142470149 critical splice donor site probably null
Posted On2013-11-11