Incidental Mutation 'IGL02553:Arl6ip6'
ID 298547
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Arl6ip6
Ensembl Gene ENSMUSG00000026960
Gene Name ADP-ribosylation factor-like 6 interacting protein 6
Synonyms 2610529A11Rik, Aip-6, 2310057C01Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.090) question?
Stock # IGL02553
Quality Score
Status
Chromosome 2
Chromosomal Location 53082096-53109233 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 53082226 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 31 (Y31C)
Ref Sequence ENSEMBL: ENSMUSP00000028336 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028336] [ENSMUST00000076313] [ENSMUST00000125243] [ENSMUST00000209364] [ENSMUST00000210789] [ENSMUST00000211712] [ENSMUST00000211102] [ENSMUST00000209508]
AlphaFold Q8BH07
Predicted Effect possibly damaging
Transcript: ENSMUST00000028336
AA Change: Y31C

PolyPhen 2 Score 0.882 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000028336
Gene: ENSMUSG00000026960
AA Change: Y31C

DomainStartEndE-ValueType
low complexity region 38 47 N/A INTRINSIC
transmembrane domain 108 130 N/A INTRINSIC
Pfam:ARL6IP6 138 214 3e-32 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000076313
SMART Domains Protein: ENSMUSP00000075655
Gene: ENSMUSG00000061136

DomainStartEndE-ValueType
low complexity region 77 124 N/A INTRINSIC
WW 141 173 7.54e-13 SMART
WW 182 214 1.57e-10 SMART
low complexity region 272 294 N/A INTRINSIC
FF 389 443 1.32e-17 SMART
FF 456 515 4.22e1 SMART
FF 523 583 1.11e-10 SMART
FF 603 663 4.31e0 SMART
low complexity region 670 682 N/A INTRINSIC
FF 739 795 7.43e-12 SMART
low complexity region 802 879 N/A INTRINSIC
low complexity region 883 923 N/A INTRINSIC
low complexity region 929 939 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000125243
SMART Domains Protein: ENSMUSP00000117406
Gene: ENSMUSG00000061136

DomainStartEndE-ValueType
low complexity region 35 82 N/A INTRINSIC
WW 99 131 7.54e-13 SMART
WW 140 172 1.57e-10 SMART
low complexity region 230 252 N/A INTRINSIC
FF 347 401 1.32e-17 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132031
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152922
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155517
Predicted Effect probably benign
Transcript: ENSMUST00000209364
Predicted Effect probably benign
Transcript: ENSMUST00000210789
Predicted Effect probably benign
Transcript: ENSMUST00000211712
Predicted Effect probably benign
Transcript: ENSMUST00000211102
Predicted Effect probably benign
Transcript: ENSMUST00000209508
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc3 A G 11: 94,242,750 (GRCm39) S1326P probably damaging Het
Alpk1 A T 3: 127,466,970 (GRCm39) L1103Q probably damaging Het
Arhgap11a A C 2: 113,667,906 (GRCm39) probably benign Het
Arpin G T 7: 79,577,395 (GRCm39) D217E possibly damaging Het
Atp13a4 C T 16: 29,241,521 (GRCm39) V735I probably benign Het
Ccdc146 A T 5: 21,502,631 (GRCm39) F753L probably benign Het
Cdh3 T A 8: 107,270,880 (GRCm39) L511* probably null Het
Chrna1 A T 2: 73,397,206 (GRCm39) I361N possibly damaging Het
Clk2 G A 3: 89,083,020 (GRCm39) R432H probably damaging Het
Col9a1 T C 1: 24,261,018 (GRCm39) probably benign Het
Cstf1 G T 2: 172,219,774 (GRCm39) R295L probably benign Het
Dsg2 A G 18: 20,725,467 (GRCm39) D526G probably damaging Het
Dsg4 T A 18: 20,595,577 (GRCm39) H593Q probably benign Het
Dysf T C 6: 84,107,109 (GRCm39) Y1171H possibly damaging Het
Erbb4 A G 1: 68,345,023 (GRCm39) L566P probably benign Het
Fam185a T A 5: 21,660,829 (GRCm39) D281E probably damaging Het
Fam185a T A 5: 21,634,839 (GRCm39) probably benign Het
Fam91a1 T A 15: 58,304,831 (GRCm39) probably null Het
Fat2 A G 11: 55,202,109 (GRCm39) W322R probably damaging Het
Fbxw8 T A 5: 118,204,125 (GRCm39) probably benign Het
Ganc A G 2: 120,288,615 (GRCm39) T874A probably benign Het
Gm3543 T C 14: 41,802,048 (GRCm39) I145M probably benign Het
Gtf2i G A 5: 134,274,015 (GRCm39) T712I probably damaging Het
Hk1 A G 10: 62,131,552 (GRCm39) S268P possibly damaging Het
Hmcn1 A G 1: 150,868,774 (GRCm39) V10A probably benign Het
Hsd17b4 C T 18: 50,295,164 (GRCm39) probably benign Het
Ighv1-75 A T 12: 115,797,725 (GRCm39) W66R probably damaging Het
Kif21b G T 1: 136,081,859 (GRCm39) D636Y probably damaging Het
Kif5b A T 18: 6,220,914 (GRCm39) I398N probably benign Het
Metap2 T C 10: 93,701,311 (GRCm39) M165V probably damaging Het
Mterf2 A C 10: 84,956,331 (GRCm39) L98V probably damaging Het
Muc16 A G 9: 18,409,849 (GRCm39) probably null Het
Myo3b A G 2: 69,925,568 (GRCm39) M12V probably benign Het
Nat10 C A 2: 103,583,013 (GRCm39) R136I probably damaging Het
Nsd2 T G 5: 34,003,542 (GRCm39) S231A probably damaging Het
Or4a71 T C 2: 89,358,275 (GRCm39) T160A probably benign Het
Or4k37 A T 2: 111,159,333 (GRCm39) M190L probably benign Het
Pcdhb14 T A 18: 37,581,071 (GRCm39) L59* probably null Het
Pias4 A G 10: 80,999,621 (GRCm39) L144P probably damaging Het
Plxna2 T A 1: 194,433,746 (GRCm39) N598K probably benign Het
Polq A G 16: 36,862,130 (GRCm39) Y550C probably damaging Het
Pot1b T A 17: 56,002,024 (GRCm39) probably benign Het
Proz T C 8: 13,115,260 (GRCm39) V92A probably benign Het
Rab4a T C 8: 124,550,561 (GRCm39) F14L probably benign Het
Riok3 T A 18: 12,276,073 (GRCm39) C256* probably null Het
Slc6a1 T A 6: 114,279,451 (GRCm39) probably benign Het
Socs5 C T 17: 87,442,419 (GRCm39) T453M probably damaging Het
Spata3 T C 1: 85,952,211 (GRCm39) L135P probably damaging Het
Spata46 A G 1: 170,139,534 (GRCm39) K178E probably damaging Het
Spr T C 6: 85,114,430 (GRCm39) N100D probably damaging Het
Srrm4 C T 5: 116,582,624 (GRCm39) probably benign Het
Stard3 T C 11: 98,267,389 (GRCm39) F169S possibly damaging Het
Tbx1 T A 16: 18,402,847 (GRCm39) D222V probably damaging Het
Trbv23 C T 6: 41,193,279 (GRCm39) Q56* probably null Het
Tsc22d1 A G 14: 76,654,838 (GRCm39) N357S possibly damaging Het
Ugt1a6a C T 1: 88,066,811 (GRCm39) P206S probably benign Het
Utp20 A G 10: 88,600,657 (GRCm39) V19A probably damaging Het
Vps13b A G 15: 35,646,447 (GRCm39) N1517S probably benign Het
Washc2 T C 6: 116,218,571 (GRCm39) I672T probably damaging Het
Other mutations in Arl6ip6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00895:Arl6ip6 APN 2 53,092,936 (GRCm39) missense probably damaging 1.00
IGL01391:Arl6ip6 APN 2 53,082,156 (GRCm39) missense probably benign 0.11
IGL02449:Arl6ip6 APN 2 53,082,538 (GRCm39) unclassified probably benign
IGL02887:Arl6ip6 APN 2 53,092,939 (GRCm39) missense probably benign 0.06
R0372:Arl6ip6 UTSW 2 53,092,933 (GRCm39) missense probably damaging 0.99
R1604:Arl6ip6 UTSW 2 53,082,508 (GRCm39) missense probably damaging 1.00
R2366:Arl6ip6 UTSW 2 53,082,379 (GRCm39) missense probably benign 0.05
R3765:Arl6ip6 UTSW 2 53,082,243 (GRCm39) missense probably damaging 1.00
R7622:Arl6ip6 UTSW 2 53,107,339 (GRCm39) missense probably damaging 1.00
R8283:Arl6ip6 UTSW 2 53,082,250 (GRCm39) missense possibly damaging 0.74
R8858:Arl6ip6 UTSW 2 53,093,018 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16