Incidental Mutation 'IGL00337:Ap1ar'
ID332327
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ap1ar
Ensembl Gene ENSMUSG00000074238
Gene Nameadaptor-related protein complex 1 associated regulatory protein
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00337
Quality Score
Status
Chromosome3
Chromosomal Location127807007-127837523 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to T at 127820752 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000143466 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051737] [ENSMUST00000196392] [ENSMUST00000200409]
Predicted Effect probably benign
Transcript: ENSMUST00000051737
SMART Domains Protein: ENSMUSP00000059669
Gene: ENSMUSG00000074238

DomainStartEndE-ValueType
Pfam:AP1AR 24 298 3.5e-152 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000166778
Predicted Effect probably benign
Transcript: ENSMUST00000196392
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196687
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197471
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197744
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199901
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200238
Predicted Effect probably benign
Transcript: ENSMUST00000200409
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apip A T 2: 103,091,912 T208S probably benign Het
Arhgap11a A G 2: 113,841,942 V227A probably damaging Het
Atrn G T 2: 130,958,079 V459F probably damaging Het
Cep295 T C 9: 15,326,072 probably null Het
Cfhr1 A G 1: 139,556,515 probably benign Het
D5Ertd615e A G 5: 45,163,427 noncoding transcript Het
Dhx29 A G 13: 112,964,603 I1227V probably benign Het
Fam98a T C 17: 75,551,747 D16G probably damaging Het
Frk A G 10: 34,484,243 D80G probably damaging Het
Gabbr2 A T 4: 46,787,600 H354Q probably damaging Het
Ggps1 G A 13: 14,054,388 S70L probably damaging Het
Gm4553 T C 7: 142,165,227 S155G unknown Het
Hpx T C 7: 105,591,770 Y432C probably damaging Het
Hyal2 T C 9: 107,572,172 C376R probably damaging Het
Il10rb G A 16: 91,406,339 A8T probably benign Het
Ing5 G T 1: 93,806,094 M1I probably null Het
Kcnc4 C T 3: 107,447,873 D420N probably benign Het
Kcnj8 T C 6: 142,570,235 N49D probably damaging Het
Kif26b C A 1: 178,915,648 A656D probably damaging Het
Klc4 T C 17: 46,635,435 E488G probably damaging Het
Mtmr4 C T 11: 87,611,924 H878Y probably benign Het
Ndufaf7 T C 17: 78,947,091 probably benign Het
Nlrp14 T G 7: 107,182,101 D168E possibly damaging Het
Ogdhl T C 14: 32,333,712 F251S probably damaging Het
Olfr59 T C 11: 74,289,387 V247A probably damaging Het
P2rx5 A T 11: 73,167,492 probably null Het
Parp14 G A 16: 35,841,075 T1501I probably benign Het
Prl3c1 C A 13: 27,200,763 T85K probably damaging Het
Psg27 A G 7: 18,561,804 Y239H probably damaging Het
Pzp T C 6: 128,516,909 R300G probably benign Het
Sec16a A G 2: 26,439,487 S839P probably benign Het
Sphkap T A 1: 83,339,608 D56V probably damaging Het
Srrt C T 5: 137,295,978 probably benign Het
Sstr3 T A 15: 78,540,467 T27S probably benign Het
Taf1d C A 9: 15,311,603 S255Y probably damaging Het
Tbc1d15 C A 10: 115,209,641 E473* probably null Het
Tmem247 T C 17: 86,917,535 V24A probably benign Het
Txnrd2 T C 16: 18,477,769 C494R probably damaging Het
Zfp180 A G 7: 24,085,469 D5G probably damaging Het
Other mutations in Ap1ar
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00337:Ap1ar APN 3 127820751 splice site probably benign
IGL02045:Ap1ar APN 3 127815649 missense probably damaging 1.00
IGL02887:Ap1ar APN 3 127808543 missense probably damaging 1.00
mantapsan UTSW 3 127812528 splice site probably null
R1468:Ap1ar UTSW 3 127812566 missense probably benign 0.00
R1468:Ap1ar UTSW 3 127812566 missense probably benign 0.00
R6166:Ap1ar UTSW 3 127812528 splice site probably null
R6732:Ap1ar UTSW 3 127815685 nonsense probably null
Posted On2015-08-05