Incidental Mutation 'R2366:Arl6ip6'
ID 246319
Institutional Source Beutler Lab
Gene Symbol Arl6ip6
Ensembl Gene ENSMUSG00000026960
Gene Name ADP-ribosylation factor-like 6 interacting protein 6
Synonyms 2610529A11Rik, Aip-6, 2310057C01Rik
MMRRC Submission 040347-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.090) question?
Stock # R2366 (G1)
Quality Score 223
Status Validated
Chromosome 2
Chromosomal Location 53082096-53109233 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 53082379 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 82 (V82A)
Ref Sequence ENSEMBL: ENSMUSP00000028336 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028336] [ENSMUST00000076313] [ENSMUST00000125243] [ENSMUST00000209364] [ENSMUST00000210789] [ENSMUST00000211102] [ENSMUST00000211712] [ENSMUST00000209508]
AlphaFold Q8BH07
Predicted Effect probably benign
Transcript: ENSMUST00000028336
AA Change: V82A

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000028336
Gene: ENSMUSG00000026960
AA Change: V82A

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: ENSMUST00000211102
Predicted Effect probably benign
Transcript: ENSMUST00000211712
Predicted Effect probably benign
Transcript: ENSMUST00000209508
Meta Mutation Damage Score 0.1074 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency 100% (39/39)
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A630091E08Rik G A 7: 98,192,949 (GRCm39) noncoding transcript Het
Adamts5 C T 16: 85,659,646 (GRCm39) G882D probably damaging Het
Brd10 A T 19: 29,731,035 (GRCm39) I726N probably damaging Het
Cd38 T G 5: 44,060,932 (GRCm39) probably benign Het
Cep250 G A 2: 155,834,552 (GRCm39) R2159K probably damaging Het
Col6a6 C A 9: 105,632,893 (GRCm39) G1457V probably damaging Het
Cyp2c69 T C 19: 39,866,038 (GRCm39) N185S probably benign Het
Cyp2d12 T A 15: 82,439,355 (GRCm39) L3Q probably damaging Het
Dnajc28 G A 16: 91,413,755 (GRCm39) T187M probably damaging Het
Drc1 A G 5: 30,523,894 (GRCm39) *754W probably null Het
Erbin G A 13: 103,981,417 (GRCm39) H503Y probably damaging Het
F3 G A 3: 121,526,194 (GRCm39) probably null Het
Gm10033 A T 8: 69,826,232 (GRCm39) M112K unknown Het
Gps1 A C 11: 120,678,945 (GRCm39) I404L probably damaging Het
Hc T C 2: 34,903,648 (GRCm39) N1002S probably benign Het
Impg2 T C 16: 56,080,236 (GRCm39) I571T probably benign Het
Knop1 C A 7: 118,451,751 (GRCm39) V323F possibly damaging Het
Kntc1 C T 5: 123,919,255 (GRCm39) L845F probably damaging Het
Lsm5 T C 6: 56,680,003 (GRCm39) D53G probably damaging Het
Lzts1 T C 8: 69,593,257 (GRCm39) probably null Het
Matr3 A T 18: 35,721,448 (GRCm39) N473I probably damaging Het
Med1 A G 11: 98,052,008 (GRCm39) V452A probably damaging Het
Napsa T A 7: 44,231,909 (GRCm39) D44E probably damaging Het
Nbeal1 T C 1: 60,290,511 (GRCm39) F1036S probably damaging Het
Ncapg2 G A 12: 116,384,349 (GRCm39) W270* probably null Het
Nherf1 G A 11: 115,054,454 (GRCm39) V35M probably benign Het
Or5af1 C A 11: 58,722,039 (GRCm39) Q20K probably benign Het
Pik3ca G A 3: 32,516,943 (GRCm39) W1057* probably null Het
Pkd1l2 A T 8: 117,770,056 (GRCm39) D1133E probably benign Het
Pramel39-ps T C 5: 94,450,972 (GRCm39) K385E probably benign Het
Prox1 T A 1: 189,894,079 (GRCm39) E122V probably damaging Het
Rest C A 5: 77,416,034 (GRCm39) H83N probably benign Het
Rundc3a A G 11: 102,288,491 (GRCm39) I68V probably damaging Het
Stx6 A T 1: 155,077,706 (GRCm39) I238L probably benign Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Ubqln3 C A 7: 103,790,256 (GRCm39) Q611H probably damaging Het
Usp6nl T A 2: 6,445,770 (GRCm39) H559Q probably benign Het
Vipr1 T G 9: 121,494,250 (GRCm39) V277G probably benign Het
Zfp101 A T 17: 33,599,972 (GRCm39) C595S probably benign Het
Zfp398 C T 6: 47,840,143 (GRCm39) T124I possibly 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
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
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
Predicted Primers PCR Primer
(F):5'- CGTCTCTGATTGGCTGTAGC -3'
(R):5'- AAGGCCTGGGCTTCAATACC -3'

Sequencing Primer
(F):5'- TTCGCGGGACTCTCAGTC -3'
(R):5'- CCTTTAACGATCATGTAGGCGATG -3'
Posted On 2014-10-30