Incidental Mutation 'R5725:Ap5z1'
ID 452435
Institutional Source Beutler Lab
Gene Symbol Ap5z1
Ensembl Gene ENSMUSG00000039623
Gene Name adaptor-related protein complex 5, zeta 1 subunit
Synonyms C330006K01Rik
MMRRC Submission 043343-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.213) question?
Stock # R5725 (G1)
Quality Score 191
Status Not validated
Chromosome 5
Chromosomal Location 142449699-142464465 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 142454731 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 244 (M244T)
Ref Sequence ENSEMBL: ENSMUSP00000143179 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038699] [ENSMUST00000196055] [ENSMUST00000197173] [ENSMUST00000198967]
AlphaFold Q3U829
Predicted Effect probably damaging
Transcript: ENSMUST00000038699
AA Change: M244T

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000041863
Gene: ENSMUSG00000039623
AA Change: M244T

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: M244T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000143179
Gene: ENSMUSG00000039623
AA Change: M244T

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
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.4%
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G A 12: 71,240,093 (GRCm39) R1301H probably benign Het
6030468B19Rik G T 11: 117,696,883 (GRCm39) S201I probably damaging Het
Abca13 G A 11: 9,527,181 (GRCm39) M4531I probably benign Het
Abca2 A G 2: 25,329,412 (GRCm39) M1058V probably damaging Het
Agrn T A 4: 156,258,332 (GRCm39) T938S probably benign Het
Aloxe3 A T 11: 69,019,480 (GRCm39) D131V probably null Het
Angptl7 C A 4: 148,580,965 (GRCm39) A277S possibly damaging Het
Aplp2 T C 9: 31,069,110 (GRCm39) D573G probably damaging Het
Arid5a G T 1: 36,358,211 (GRCm39) E176* probably null Het
Atp8b4 A T 2: 126,275,856 (GRCm39) N125K probably benign Het
Auts2 A G 5: 131,468,584 (GRCm39) V911A probably benign Het
Bahcc1 G A 11: 120,165,714 (GRCm39) R990H probably benign Het
Cd84 T C 1: 171,700,928 (GRCm39) F230L probably benign Het
Dtnb T A 12: 3,823,566 (GRCm39) L584H probably damaging Het
Dync2h1 A C 9: 7,169,528 (GRCm39) S316R probably benign Het
Eif3m A G 2: 104,844,186 (GRCm39) I73T probably damaging Het
Emilin3 A T 2: 160,750,410 (GRCm39) C399* probably null Het
Fam118a A G 15: 84,929,822 (GRCm39) K17E probably damaging Het
Fat4 A G 3: 38,943,774 (GRCm39) N889S probably damaging Het
Hmcn2 G A 2: 31,273,827 (GRCm39) probably null Het
Hyls1 G A 9: 35,472,480 (GRCm39) S312F probably benign Het
Igsf21 T C 4: 139,762,054 (GRCm39) D208G probably benign Het
Itgax A G 7: 127,747,033 (GRCm39) T945A possibly damaging Het
Itsn2 T A 12: 4,680,767 (GRCm39) probably benign Het
Kcna4 A G 2: 107,127,221 (GRCm39) T652A possibly damaging Het
Kir3dl1 G A X: 135,427,231 (GRCm39) D56N probably damaging Het
Lrp4 A G 2: 91,325,240 (GRCm39) Y1355C probably damaging Het
Mmp9 C A 2: 164,791,256 (GRCm39) A142E possibly damaging Het
Mpeg1 T C 19: 12,440,000 (GRCm39) V486A probably benign Het
Mrgprb3 A T 7: 48,293,548 (GRCm39) M1K probably null Het
Mrtfb A T 16: 13,202,174 (GRCm39) K146* probably null Het
Nacad T C 11: 6,551,643 (GRCm39) E516G probably benign Het
Or5k15 G A 16: 58,710,250 (GRCm39) T111I possibly damaging Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Pappa T A 4: 65,107,647 (GRCm39) V686E probably damaging Het
Polr3a A T 14: 24,515,455 (GRCm39) probably null Het
Ppp1r3a A G 6: 14,719,348 (GRCm39) V522A probably benign Het
Rab6b T A 9: 103,041,061 (GRCm39) F152I probably damaging Het
Sacs G A 14: 61,448,559 (GRCm39) R3535Q probably damaging Het
Septin14 T C 5: 129,766,630 (GRCm39) D317G probably damaging Het
Sin3b T C 8: 73,452,320 (GRCm39) probably null Het
Sis G A 3: 72,872,931 (GRCm39) P69L probably damaging Het
Slc12a3 G T 8: 95,057,074 (GRCm39) V116L probably benign Het
Slc16a12 A T 19: 34,652,227 (GRCm39) F306L probably damaging Het
Slc39a12 T C 2: 14,394,075 (GRCm39) probably benign Het
Smg6 A G 11: 74,821,439 (GRCm39) Q570R probably benign Het
Sptb G A 12: 76,669,888 (GRCm39) A480V probably benign Het
Srsf4 C A 4: 131,628,262 (GRCm39) probably benign Het
Topors T C 4: 40,261,952 (GRCm39) D444G probably damaging Het
Trav19 A C 14: 54,082,999 (GRCm39) T25P possibly damaging Het
Trim3 A G 7: 105,266,947 (GRCm39) probably null Het
Ugt2a2 T C 5: 87,622,755 (GRCm39) N281S probably damaging Het
Vmn1r12 A G 6: 57,136,694 (GRCm39) I264V probably benign Het
Vmn2r94 T A 17: 18,476,489 (GRCm39) I403F possibly damaging Het
Zzef1 G A 11: 72,746,308 (GRCm39) R870Q 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
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'- TGCAGTACAACCTTGGGAGAGG -3'
(R):5'- ACCTGTGGTGTGCATCTAGG -3'

Sequencing Primer
(F):5'- AGGTACTGCAGGCTTCCG -3'
(R):5'- ATCTAGGCTACACTGTAGGGCAC -3'
Posted On 2017-01-03