Incidental Mutation 'R7287:Ap5z1'
ID 566081
Institutional Source Beutler Lab
Gene Symbol Ap5z1
Ensembl Gene ENSMUSG00000039623
Gene Name adaptor-related protein complex 5, zeta 1 subunit
Synonyms C330006K01Rik
MMRRC Submission 045321-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.213) question?
Stock # R7287 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 142449699-142464465 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 142459802 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 484 (L484P)
Ref Sequence ENSEMBL: ENSMUSP00000041863 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038699] [ENSMUST00000196055]
AlphaFold Q3U829
Predicted Effect probably damaging
Transcript: ENSMUST00000038699
AA Change: L484P

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000041863
Gene: ENSMUSG00000039623
AA Change: L484P

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: L484P

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000143179
Gene: ENSMUSG00000039623
AA Change: L484P

DomainStartEndE-ValueType
low complexity region 271 294 N/A INTRINSIC
Pfam:SPG48 318 758 2.6e-181 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 100% (71/71)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 A G 17: 24,604,861 (GRCm39) D656G possibly damaging Het
Abcc3 C T 11: 94,247,873 (GRCm39) A1207T probably benign Het
Abcc8 T C 7: 45,762,534 (GRCm39) H1209R probably damaging Het
Adam26a T C 8: 44,023,380 (GRCm39) T37A possibly damaging Het
Adamts9 C T 6: 92,866,984 (GRCm39) R685Q possibly damaging Het
Anapc7 T A 5: 122,571,499 (GRCm39) N191K probably benign Het
Ankrd26 C T 6: 118,526,598 (GRCm39) probably null Het
Arhgap32 A G 9: 32,063,993 (GRCm39) D77G Het
Atp10a T A 7: 58,477,017 (GRCm39) D1213E probably damaging Het
B3gnt8 T C 7: 25,328,395 (GRCm39) L275P probably damaging Het
Bltp2 G A 11: 78,163,709 (GRCm39) R1059H possibly damaging Het
Cab39 A G 1: 85,746,182 (GRCm39) E21G probably benign Het
Capn15 G T 17: 26,179,429 (GRCm39) S948R probably damaging Het
Cbarp T C 10: 79,973,154 (GRCm39) T15A unknown Het
Ccdc81 C T 7: 89,542,331 (GRCm39) A182T probably damaging Het
Ccpg1 A G 9: 72,922,688 (GRCm39) H766R probably benign Het
Cfl1 T C 19: 5,542,562 (GRCm39) V14A probably benign Het
Chd6 A G 2: 160,850,312 (GRCm39) I875T probably benign Het
Cidec T A 6: 113,405,359 (GRCm39) E121D probably benign Het
Clpx C A 9: 65,207,295 (GRCm39) Y64* probably null Het
Cntn1 T A 15: 92,143,833 (GRCm39) probably null Het
Cyp24a1 A G 2: 170,327,826 (GRCm39) L472P probably damaging Het
Dcdc2c G T 12: 28,566,685 (GRCm39) D159E probably benign Het
Emp1 T C 6: 135,357,167 (GRCm39) F82L probably benign Het
Fem1b T C 9: 62,703,404 (GRCm39) T619A probably benign Het
Fgf15 A T 7: 144,450,531 (GRCm39) D39V probably benign Het
Galnt12 T G 4: 47,108,525 (GRCm39) F221V probably damaging Het
Herc6 A G 6: 57,628,965 (GRCm39) probably null Het
Hspg2 G A 4: 137,256,867 (GRCm39) V1537I probably benign Het
Ido2 T C 8: 25,025,154 (GRCm39) probably null Het
Insr G A 8: 3,219,717 (GRCm39) T935I probably benign Het
Itgax G A 7: 127,747,677 (GRCm39) C1031Y probably damaging Het
Kif13a C T 13: 46,905,931 (GRCm39) V671M possibly damaging Het
Kmt5b T C 19: 3,854,501 (GRCm39) Y255H possibly damaging Het
Lrriq1 A T 10: 103,051,877 (GRCm39) Y292N probably benign Het
Mrpl37 A G 4: 106,917,717 (GRCm39) F318S probably damaging Het
Nav2 A G 7: 49,070,076 (GRCm39) N311D probably benign Het
Nbeal1 G C 1: 60,276,310 (GRCm39) V684L probably benign Het
Nlrp9b T C 7: 19,762,381 (GRCm39) C673R probably damaging Het
Npnt A G 3: 132,612,563 (GRCm39) V74A probably benign Het
Or10ak12 T A 4: 118,666,939 (GRCm39) T41S probably benign Het
Or1e19 T A 11: 73,316,669 (GRCm39) I47F probably benign Het
Plce1 A T 19: 38,690,347 (GRCm39) Q677L probably benign Het
Pmel C T 10: 128,551,095 (GRCm39) Q113* probably null Het
Pom121l2 T A 13: 22,168,502 (GRCm39) F924L probably benign Het
Poteg G A 8: 27,943,372 (GRCm39) R214K probably null Het
Pprc1 G T 19: 46,059,793 (GRCm39) S1480I unknown Het
Secisbp2l A G 2: 125,582,289 (GRCm39) S1056P probably benign Het
Selenoo T C 15: 88,982,903 (GRCm39) F477L probably benign Het
Senp2 A G 16: 21,837,114 (GRCm39) D121G probably damaging Het
Slc25a11 T C 11: 70,536,181 (GRCm39) D211G probably benign Het
Slc44a2 A G 9: 21,253,752 (GRCm39) D131G probably benign Het
Tcf25 G A 8: 124,100,711 (GRCm39) A34T possibly damaging Het
Tm9sf3 A G 19: 41,205,818 (GRCm39) Y530H probably damaging Het
Tmco3 G A 8: 13,369,605 (GRCm39) probably null Het
Tmem132d G T 5: 128,061,415 (GRCm39) Q396K probably damaging Het
Tmem154 A G 3: 84,597,870 (GRCm39) T136A possibly damaging Het
Tnrc6b A G 15: 80,763,742 (GRCm39) T415A possibly damaging Het
Tonsl T C 15: 76,517,925 (GRCm39) probably null Het
Ttyh1 T C 7: 4,128,657 (GRCm39) Y185H probably benign Het
Ufl1 T A 4: 25,254,852 (GRCm39) T535S probably benign Het
Vmn1r15 T C 6: 57,235,201 (GRCm39) L23P possibly damaging Het
Vmn2r25 T A 6: 123,829,040 (GRCm39) H78L possibly damaging Het
Vmn2r68 T C 7: 84,871,460 (GRCm39) T608A probably benign Het
Vwf A G 6: 125,614,430 (GRCm39) I1104V Het
Zbtb2 C T 10: 4,318,986 (GRCm39) D347N possibly damaging Het
Zfyve9 A T 4: 108,575,453 (GRCm39) S543T probably benign Het
Zhx1 T C 15: 57,916,692 (GRCm39) N518S probably damaging Het
Zmym6 T C 4: 127,016,775 (GRCm39) V852A possibly damaging 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
R0094:Ap5z1 UTSW 5 142,462,567 (GRCm39) missense probably benign 0.00
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
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'- GCTGAGCTGTCTTGTTCACC -3'
(R):5'- ATAACATCACAGGCTCTCGGG -3'

Sequencing Primer
(F):5'- GTCTTGTTCACCCCCGCAG -3'
(R):5'- GAGGCTCCTCTTCATGAACATGAG -3'
Posted On 2019-06-26