Incidental Mutation 'IGL01391:Arl6ip6'
ID 79201
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: 0.102) question?
Stock # IGL01391
Quality Score
Status
Chromosome 2
Chromosomal Location 53082096-53109233 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 53082156 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 8 (R8G)
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 probably benign
Transcript: ENSMUST00000028336
AA Change: R8G

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000028336
Gene: ENSMUSG00000026960
AA Change: R8G

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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap3m2 T A 8: 23,289,663 (GRCm39) I147F probably benign Het
Areg T A 5: 91,288,954 (GRCm39) S87T probably damaging Het
Arid1b T A 17: 5,369,133 (GRCm39) probably benign Het
Brms1 A G 19: 5,096,723 (GRCm39) E135G possibly damaging Het
Ccser1 A G 6: 61,615,505 (GRCm39) probably benign Het
Dock3 A T 9: 106,784,433 (GRCm39) M258K possibly damaging Het
Epb41l4a T G 18: 33,934,678 (GRCm39) D562A possibly damaging Het
Etaa1 G A 11: 17,896,005 (GRCm39) T704I probably damaging Het
Fer1l4 T A 2: 155,878,376 (GRCm39) H972L probably damaging Het
Foxn1 A G 11: 78,252,320 (GRCm39) M356T probably damaging Het
Gfral C A 9: 76,072,107 (GRCm39) G388* probably null Het
Gm12258 A G 11: 58,739,520 (GRCm39) T3A probably benign Het
Hoxa5 T C 6: 52,181,311 (GRCm39) N7S probably damaging Het
Itgb4 T C 11: 115,881,746 (GRCm39) L765P probably damaging Het
Jchain C T 5: 88,669,383 (GRCm39) C90Y probably damaging Het
Klhl40 A G 9: 121,607,983 (GRCm39) Y381C probably damaging Het
Lhx6 A T 2: 35,993,477 (GRCm39) C74S probably benign Het
Magel2 A G 7: 62,030,632 (GRCm39) S1179G unknown Het
Mapre3 T C 5: 31,022,241 (GRCm39) I236T probably damaging Het
Mcf2l A T 8: 13,064,010 (GRCm39) probably null Het
Med13 A T 11: 86,219,323 (GRCm39) H374Q probably benign Het
Meioc A G 11: 102,565,113 (GRCm39) Y187C probably benign Het
Myh1 G A 11: 67,108,689 (GRCm39) M1368I probably benign Het
Or14a258 A T 7: 86,035,208 (GRCm39) I220N possibly damaging Het
Or8b54 A G 9: 38,686,826 (GRCm39) I92V probably damaging Het
Phrf1 T C 7: 140,842,394 (GRCm39) Y1501H probably damaging Het
Pigb T C 9: 72,929,573 (GRCm39) T337A probably damaging Het
Pls1 T C 9: 95,655,751 (GRCm39) K334E probably benign Het
Pramel51 C T 12: 88,145,225 (GRCm39) V34I possibly damaging Het
Rab3b T C 4: 108,797,999 (GRCm39) C226R probably damaging Het
Ryr2 A T 13: 11,571,571 (GRCm39) I4889N possibly damaging Het
Serpinb1a G A 13: 33,029,398 (GRCm39) S210L probably benign Het
Slc52a3 A G 2: 151,849,522 (GRCm39) I390V probably benign Het
Slc6a7 C A 18: 61,136,382 (GRCm39) A340S probably damaging Het
Tcaf3 T C 6: 42,570,615 (GRCm39) Y379C probably damaging Het
Tex261 A G 6: 83,748,222 (GRCm39) V180A probably benign Het
Tnnt1 C T 7: 4,517,211 (GRCm39) probably null Het
Ttn T C 2: 76,798,847 (GRCm39) T476A possibly damaging Het
Vcan A G 13: 89,852,288 (GRCm39) S891P probably benign Het
Vmn2r16 T A 5: 109,511,627 (GRCm39) D611E possibly damaging Het
Vmn2r68 T C 7: 84,886,819 (GRCm39) T32A probably benign Het
Vwde T G 6: 13,190,526 (GRCm39) S522R probably benign Het
Wdr3 G A 3: 100,054,105 (GRCm39) probably benign Het
Wfs1 G T 5: 37,128,907 (GRCm39) Q288K probably benign Het
Zfp142 A G 1: 74,618,699 (GRCm39) V120A probably damaging Het
Zfp672 A G 11: 58,208,192 (GRCm39) F43S probably damaging Het
Znhit3 A T 11: 84,802,283 (GRCm39) probably benign Het
Other mutations in Arl6ip6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00895:Arl6ip6 APN 2 53,092,936 (GRCm39) missense probably damaging 1.00
IGL02449:Arl6ip6 APN 2 53,082,538 (GRCm39) unclassified probably benign
IGL02553:Arl6ip6 APN 2 53,082,226 (GRCm39) missense possibly damaging 0.88
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 2013-11-05