Incidental Mutation 'R0094:Ap5z1'
ID 64001
Institutional Source Beutler Lab
Gene Symbol Ap5z1
Ensembl Gene ENSMUSG00000039623
Gene Name adaptor-related protein complex 5, zeta 1 subunit
Synonyms C330006K01Rik
MMRRC Submission 038380-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.213) question?
Stock # R0094 (G1)
Quality Score 101
Status Not validated
Chromosome 5
Chromosomal Location 142449699-142464465 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 142462567 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 626 (V626M)
Ref Sequence ENSEMBL: ENSMUSP00000143179 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038699] [ENSMUST00000196055]
AlphaFold Q3U829
Predicted Effect probably benign
Transcript: ENSMUST00000038699
AA Change: V642M

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000041863
Gene: ENSMUSG00000039623
AA Change: V642M

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 benign
Transcript: ENSMUST00000196055
AA Change: V626M

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000143179
Gene: ENSMUSG00000039623
AA Change: V626M

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 noncoding transcript
Transcript: ENSMUST00000197293
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198135
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.9%
  • 20x: 96.4%
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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931429L15Rik T A 9: 46,218,184 (GRCm39) T185S possibly damaging Het
Amotl1 A G 9: 14,486,683 (GRCm39) S441P probably benign Het
Cacna2d3 C T 14: 28,892,460 (GRCm39) probably null Het
Cfap77 A T 2: 28,874,446 (GRCm39) V128D probably damaging Het
Colgalt1 T C 8: 72,075,802 (GRCm39) V483A probably damaging Het
Dcdc2b T C 4: 129,504,104 (GRCm39) probably null Het
Dsg2 A T 18: 20,724,910 (GRCm39) T439S probably benign Het
Dtx1 A G 5: 120,820,689 (GRCm39) Y455H probably damaging Het
Frmpd1 C A 4: 45,284,899 (GRCm39) S1240* probably null Het
Gypa T A 8: 81,227,560 (GRCm39) H69Q unknown Het
Mfap5 G A 6: 122,502,951 (GRCm39) V54I probably damaging Het
Mroh7 C T 4: 106,560,381 (GRCm39) G641E probably damaging Het
Mvd C T 8: 123,166,442 (GRCm39) R65H probably benign Het
Or14c40 A G 7: 86,313,502 (GRCm39) S211G probably benign Het
Pigs T A 11: 78,230,864 (GRCm39) N370K probably damaging Het
Pkd1 A G 17: 24,800,250 (GRCm39) T3004A possibly damaging Het
Pkhd1 T A 1: 20,279,470 (GRCm39) R2949S probably damaging Het
Ptpro T C 6: 137,363,350 (GRCm39) Y495H probably benign Het
Rfc4 G T 16: 22,934,178 (GRCm39) Q208K probably benign Het
Rpa2 T C 4: 132,497,893 (GRCm39) S52P probably damaging Het
Sirpb1c G T 3: 15,892,922 (GRCm39) T94K possibly damaging Het
Sis A T 3: 72,828,770 (GRCm39) N1136K probably damaging Het
Spp2 T A 1: 88,348,402 (GRCm39) probably null Het
Ubr3 C T 2: 69,781,706 (GRCm39) T628I probably damaging Het
Vmn1r213 A G 13: 23,195,819 (GRCm39) H134R probably damaging Het
Vmn2r59 T C 7: 41,661,722 (GRCm39) R698G probably benign Het
Other mutations in Ap5z1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01382:Ap5z1 APN 5 142,458,006 (GRCm39) missense probably benign 0.02
IGL01456:Ap5z1 APN 5 142,453,791 (GRCm39) missense probably damaging 0.96
IGL01656:Ap5z1 APN 5 142,456,069 (GRCm39) missense probably benign 0.10
IGL02079:Ap5z1 APN 5 142,462,868 (GRCm39) critical splice donor site probably null
IGL02134:Ap5z1 APN 5 142,460,214 (GRCm39) missense probably benign 0.09
IGL02662:Ap5z1 APN 5 142,462,644 (GRCm39) splice site probably null
IGL02805:Ap5z1 APN 5 142,456,038 (GRCm39) unclassified probably benign
R0057:Ap5z1 UTSW 5 142,456,144 (GRCm39) unclassified probably benign
R0057:Ap5z1 UTSW 5 142,456,144 (GRCm39) unclassified probably benign
R0395:Ap5z1 UTSW 5 142,456,317 (GRCm39) unclassified probably benign
R0811:Ap5z1 UTSW 5 142,461,546 (GRCm39) missense probably benign 0.00
R0812:Ap5z1 UTSW 5 142,461,546 (GRCm39) missense probably benign 0.00
R1241:Ap5z1 UTSW 5 142,455,869 (GRCm39) missense probably damaging 1.00
R1248:Ap5z1 UTSW 5 142,460,255 (GRCm39) missense probably benign 0.02
R1374:Ap5z1 UTSW 5 142,456,213 (GRCm39) missense probably damaging 1.00
R1616:Ap5z1 UTSW 5 142,457,991 (GRCm39) missense probably benign 0.10
R1923:Ap5z1 UTSW 5 142,458,096 (GRCm39) missense probably benign 0.30
R2423:Ap5z1 UTSW 5 142,462,532 (GRCm39) missense probably benign 0.02
R3790:Ap5z1 UTSW 5 142,456,168 (GRCm39) missense probably benign
R4859:Ap5z1 UTSW 5 142,459,748 (GRCm39) missense possibly damaging 0.75
R4965:Ap5z1 UTSW 5 142,453,431 (GRCm39) missense probably damaging 1.00
R5147:Ap5z1 UTSW 5 142,452,265 (GRCm39) missense probably benign 0.02
R5311:Ap5z1 UTSW 5 142,453,442 (GRCm39) missense possibly damaging 0.79
R5531:Ap5z1 UTSW 5 142,453,536 (GRCm39) missense probably benign
R5569:Ap5z1 UTSW 5 142,460,206 (GRCm39) missense probably damaging 0.99
R5725:Ap5z1 UTSW 5 142,454,731 (GRCm39) missense probably damaging 1.00
R7287:Ap5z1 UTSW 5 142,459,802 (GRCm39) missense probably damaging 0.99
R7407:Ap5z1 UTSW 5 142,452,330 (GRCm39) missense probably benign 0.06
R7537:Ap5z1 UTSW 5 142,463,053 (GRCm39) missense probably benign 0.06
R7894:Ap5z1 UTSW 5 142,456,191 (GRCm39) nonsense probably null
R7894:Ap5z1 UTSW 5 142,452,039 (GRCm39) missense probably benign 0.34
R7895:Ap5z1 UTSW 5 142,456,313 (GRCm39) critical splice donor site probably null
R8022:Ap5z1 UTSW 5 142,455,904 (GRCm39) critical splice donor site probably null
R8244:Ap5z1 UTSW 5 142,459,735 (GRCm39) missense possibly damaging 0.60
R8823:Ap5z1 UTSW 5 142,460,191 (GRCm39) missense probably benign 0.19
R8867:Ap5z1 UTSW 5 142,463,011 (GRCm39) missense probably benign 0.05
R9673:Ap5z1 UTSW 5 142,463,113 (GRCm39) missense probably benign 0.32
Predicted Primers PCR Primer
(F):5'- AAAGGCTCCTTAATGGGTGGCAAG -3'
(R):5'- AGGGCTTCCAGGGCTTCAAAGAAC -3'

Sequencing Primer
(F):5'- CCTTAATGGGTGGCAAGTTTTCC -3'
(R):5'- CCAGGGCTTCAAAGAACTTGTTG -3'
Posted On 2013-08-06