Incidental Mutation 'IGL02216:Ap5s1'
ID 284910
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ap5s1
Ensembl Gene ENSMUSG00000068264
Gene Name adaptor-related protein 5 complex, sigma 1 subunit
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.084) question?
Stock # IGL02216
Quality Score
Chromosome 2
Chromosomal Location 131207078-131213514 bp(+) (GRCm38)
Type of Mutation unclassified
DNA Base Change (assembly) T to A at 131212967 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000121488 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089506] [ENSMUST00000110206] [ENSMUST00000110208] [ENSMUST00000110210] [ENSMUST00000153097]
AlphaFold Q9D742
Predicted Effect unknown
Transcript: ENSMUST00000089506
AA Change: V203E
SMART Domains Protein: ENSMUSP00000086933
Gene: ENSMUSG00000068264
AA Change: V203E

Pfam:AP-5_subunit_s1 1 162 1.2e-51 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110206
SMART Domains Protein: ENSMUSP00000105835
Gene: ENSMUSG00000068264

Pfam:AP-5_subunit_s1 1 68 3.6e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110208
SMART Domains Protein: ENSMUSP00000105837
Gene: ENSMUSG00000068264

Pfam:AP-5_subunit_s1 1 195 6.7e-66 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110210
SMART Domains Protein: ENSMUSP00000105839
Gene: ENSMUSG00000068264

Pfam:AP-5_subunit_s1 1 162 8.2e-53 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134086
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143546
Predicted Effect probably benign
Transcript: ENSMUST00000153097
SMART Domains Protein: ENSMUSP00000121488
Gene: ENSMUSG00000068264

Pfam:AP-5_subunit_s1 1 99 6.7e-30 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153901
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610009O20Rik A T 18: 38,252,860 I102F probably damaging Het
4930544D05Rik T C 11: 70,616,179 F48L possibly damaging Het
5830473C10Rik T C 5: 90,579,579 probably benign Het
Adamts12 A G 15: 11,241,485 N381S possibly damaging Het
Akp3 A T 1: 87,127,650 Q473L probably damaging Het
Atp10b T A 11: 43,259,789 L1438Q probably damaging Het
B3galt4 G A 17: 33,950,565 P233L probably damaging Het
Brd8 C T 18: 34,602,727 S899N probably damaging Het
Cc2d1a C A 8: 84,139,313 E393* probably null Het
Cd209a G T 8: 3,745,576 T165N probably damaging Het
Chid1 T C 7: 141,496,593 probably benign Het
Cln3 A T 7: 126,575,342 probably null Het
Cped1 A T 6: 22,059,945 R203S probably damaging Het
Dnttip2 G T 3: 122,276,261 W375L probably benign Het
Dync1h1 T C 12: 110,663,002 F4280S probably damaging Het
Ephb4 A G 5: 137,372,070 D844G possibly damaging Het
Fhl2 T A 1: 43,131,719 E145V probably null Het
Gne T C 4: 44,044,761 K458E probably benign Het
Grid2 G T 6: 64,345,666 R550L probably damaging Het
Klhl1 T A 14: 96,123,222 T731S probably benign Het
Kng1 T A 16: 23,058,533 D30E probably damaging Het
Kyat1 A G 2: 30,187,252 V158A probably benign Het
Mcm8 G T 2: 132,839,529 V642F probably damaging Het
Mdn1 C T 4: 32,739,092 H3638Y probably benign Het
Neb T G 2: 52,226,490 T4158P probably benign Het
Neo1 T C 9: 58,917,053 I697M probably damaging Het
Nfkb1 A T 3: 135,594,963 V614D probably damaging Het
Olfr860 G A 9: 19,846,565 S18L probably damaging Het
Otog T C 7: 46,301,468 S2555P probably damaging Het
Pkd1l1 T A 11: 8,834,897 R1962S probably damaging Het
Plxnb1 A G 9: 109,100,850 Y258C probably damaging Het
Pramef8 T A 4: 143,417,728 probably null Het
Prl3a1 A G 13: 27,270,144 D35G probably benign Het
Rag1 A T 2: 101,643,381 V472D possibly damaging Het
Rbpj-ps3 G A 6: 46,529,707 probably benign Het
Rnf112 C T 11: 61,449,978 V472M probably damaging Het
Rps18 A G 17: 33,952,041 probably benign Het
Rptn T C 3: 93,395,773 S138P possibly damaging Het
Sbpl A C 17: 23,953,716 N76K probably benign Het
Sh3bp1 A T 15: 78,905,164 M241L probably benign Het
Slc22a17 T C 14: 54,907,976 *198W probably null Het
Smc3 C T 19: 53,621,844 R221C probably damaging Het
Snai1 A G 2: 167,538,848 E87G probably benign Het
Snx22 C A 9: 66,069,188 A49S probably benign Het
Tas2r143 A T 6: 42,400,334 R33* probably null Het
Try4 A G 6: 41,305,031 I184V probably benign Het
Ttn T A 2: 76,754,552 K20355* probably null Het
Ttn A G 2: 76,791,725 V15491A probably benign Het
Vmn1r170 A G 7: 23,606,490 T106A probably damaging Het
Vmn2r59 A T 7: 42,012,393 V666E probably damaging Het
Vsx1 T C 2: 150,684,575 N221S possibly damaging Het
Zcchc6 T C 13: 59,800,423 T293A probably benign Het
Zfp846 A G 9: 20,588,609 E45G probably damaging Het
Other mutations in Ap5s1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01715:Ap5s1 APN 2 131211373 missense probably damaging 1.00
R0838:Ap5s1 UTSW 2 131211431 missense probably damaging 1.00
R6018:Ap5s1 UTSW 2 131212995 nonsense probably null
R7035:Ap5s1 UTSW 2 131212812 missense probably damaging 1.00
R7348:Ap5s1 UTSW 2 131212652 missense possibly damaging 0.58
R7356:Ap5s1 UTSW 2 131212662 missense probably damaging 1.00
R7585:Ap5s1 UTSW 2 131212562 missense probably damaging 0.99
R7683:Ap5s1 UTSW 2 131212707 missense probably damaging 0.98
R8289:Ap5s1 UTSW 2 131212459 missense probably benign 0.03
Posted On 2015-04-16