Incidental Mutation 'R8283:Arl6ip6'
ID 638291
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 067706-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.090) question?
Stock # R8283 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 53082096-53109233 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 53082250 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 39 (E39G)
Ref Sequence ENSEMBL: ENSMUSP00000028336 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028336] [ENSMUST00000076313] [ENSMUST00000125243] [ENSMUST00000209364] [ENSMUST00000209508] [ENSMUST00000210789] [ENSMUST00000211102] [ENSMUST00000211712]
AlphaFold Q8BH07
Predicted Effect possibly damaging
Transcript: ENSMUST00000028336
AA Change: E39G

PolyPhen 2 Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000028336
Gene: ENSMUSG00000026960
AA Change: E39G

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 probably benign
Transcript: ENSMUST00000209364
Predicted Effect probably benign
Transcript: ENSMUST00000209508
Predicted Effect probably benign
Transcript: ENSMUST00000210789
Predicted Effect probably benign
Transcript: ENSMUST00000211102
Predicted Effect probably benign
Transcript: ENSMUST00000211712
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b C T 5: 8,856,086 (GRCm39) P65S probably damaging Het
Adcy3 A T 12: 4,250,935 (GRCm39) R565W probably damaging Het
Arl14 A T 3: 69,129,868 (GRCm39) N5I probably benign Het
Aven C T 2: 112,390,120 (GRCm39) R8W probably benign Het
Axl C T 7: 25,463,379 (GRCm39) D633N probably benign Het
Boc A T 16: 44,340,800 (GRCm39) L50Q noncoding transcript Het
Calml3 A G 13: 3,854,097 (GRCm39) V36A probably damaging Het
Ccdc183 G A 2: 25,502,160 (GRCm39) A238V probably damaging Het
Ccndbp1 A G 2: 120,839,065 (GRCm39) probably benign Het
Ccr9 A G 9: 123,608,696 (GRCm39) Y126C probably damaging Het
Cdhr1 T C 14: 36,804,737 (GRCm39) N491S probably benign Het
Celsr2 C T 3: 108,303,771 (GRCm39) G2429D probably damaging Het
Cts6 T C 13: 61,349,457 (GRCm39) T84A probably damaging Het
Dcpp2 T C 17: 24,118,384 (GRCm39) probably null Het
Drosha A G 15: 12,890,587 (GRCm39) I945V possibly damaging Het
Dsg1b A G 18: 20,524,963 (GRCm39) Q133R probably benign Het
Enpp1 T A 10: 24,550,554 (GRCm39) E174D probably benign Het
Esrrb A G 12: 86,468,732 (GRCm39) H15R probably benign Het
Fbxl12 T C 9: 20,550,017 (GRCm39) T213A probably benign Het
Fnbp4 C A 2: 90,577,115 (GRCm39) T149K probably damaging Het
Foxj1 A T 11: 116,224,893 (GRCm39) F158Y probably benign Het
Frrs1 A G 3: 116,671,952 (GRCm39) T17A probably benign Het
Gm10110 C T 14: 90,135,677 (GRCm39) V76M noncoding transcript Het
Gm45844 T C 7: 7,244,901 (GRCm39) Y11C possibly damaging Het
Hnrnpl T C 7: 28,513,697 (GRCm39) V220A Het
Iars2 T A 1: 185,020,288 (GRCm39) R949* probably null Het
Ice1 T C 13: 70,752,549 (GRCm39) E1179G probably damaging Het
Mast4 A G 13: 102,895,177 (GRCm39) L782P probably damaging Het
Mcmdc2 A C 1: 10,004,263 (GRCm39) K581T possibly damaging Het
Men1 A T 19: 6,386,848 (GRCm39) D186V probably damaging Het
Morc2b T G 17: 33,355,675 (GRCm39) N699T probably benign Het
Mrgpra2b A G 7: 47,114,465 (GRCm39) L89P probably damaging Het
Naip1 C T 13: 100,563,695 (GRCm39) G490E probably damaging Het
Ntm T C 9: 28,923,508 (GRCm39) Y224C probably damaging Het
Nup88 A T 11: 70,849,166 (GRCm39) D262E probably benign Het
Or10ag52 T C 2: 87,043,683 (GRCm39) V149A probably benign Het
Or51l4 T A 7: 103,404,019 (GRCm39) I258L possibly damaging Het
Or8b54 G A 9: 38,686,577 (GRCm39) V9M noncoding transcript Het
Oscp1 A G 4: 125,980,393 (GRCm39) M293V probably benign Het
Pcdhgc3 C A 18: 37,940,694 (GRCm39) A365D probably damaging Het
Pcyt2 A T 11: 120,501,548 (GRCm39) F388I probably benign Het
Pgm2l1 C G 7: 99,902,460 (GRCm39) A136G probably benign Het
Phf14 T G 6: 11,987,636 (GRCm39) D638E probably benign Het
Pnpla7 A G 2: 24,940,935 (GRCm39) K1096E probably damaging Het
Prkcb T A 7: 122,199,948 (GRCm39) C586* probably null Het
Rnf187 T A 11: 58,829,241 (GRCm39) R124W probably damaging Het
Sema3a T C 5: 13,450,030 (GRCm39) Y36H probably damaging Het
Setd7 T G 3: 51,428,796 (GRCm39) S345R probably benign Het
Sgms1 T C 19: 32,137,035 (GRCm39) D177G probably damaging Het
Snx19 T C 9: 30,374,522 (GRCm39) L927S possibly damaging Het
Sorbs1 G C 19: 40,365,244 (GRCm39) R180G probably benign Het
Sorl1 T C 9: 41,942,294 (GRCm39) D977G probably damaging Het
Sptan1 C T 2: 29,870,212 (GRCm39) R121W probably damaging Het
Srgap2 T C 1: 131,291,771 (GRCm39) D152G probably damaging Het
Suclg2 T A 6: 95,474,700 (GRCm39) probably null Het
Tacc2 T C 7: 130,227,034 (GRCm39) S1240P probably benign Het
Tbc1d12 C T 19: 38,825,353 (GRCm39) A68V probably benign Het
Tex14 G A 11: 87,365,241 (GRCm39) D62N probably damaging Het
Thyn1 C T 9: 26,918,155 (GRCm39) T181I probably benign Het
Trio T A 15: 27,756,628 (GRCm39) H2056L possibly damaging Het
Ubn2 T A 6: 38,475,663 (GRCm39) L1207Q probably damaging Het
Usp17lb T C 7: 104,490,013 (GRCm39) S305G probably damaging Het
Vmn2r101 T A 17: 19,832,253 (GRCm39) Y750N probably damaging Het
Wif1 G A 10: 120,931,952 (GRCm39) S292N probably benign Het
Xpo6 T G 7: 125,727,421 (GRCm39) Q528H 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
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
R8858:Arl6ip6 UTSW 2 53,093,018 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAATGAGAGTGTTGTCGCGG -3'
(R):5'- ATCATGTAGGCGATGGCGAG -3'

Sequencing Primer
(F):5'- ACGGCCGTCTCTGATTGG -3'
(R):5'- CGAGCCTGGGTTCGCTTG -3'
Posted On 2020-07-28