Incidental Mutation 'R6651:Arl6ip1'
ID 527790
Institutional Source Beutler Lab
Gene Symbol Arl6ip1
Ensembl Gene ENSMUSG00000030654
Gene Name ADP-ribosylation factor-like 6 interacting protein 1
Synonyms AIP-6, ARMER
MMRRC Submission 044772-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6651 (G1)
Quality Score 202.009
Status Validated
Chromosome 7
Chromosomal Location 117718113-117728848 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 117728708 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 7 (R7H)
Ref Sequence ENSEMBL: ENSMUSP00000032888 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032888] [ENSMUST00000032891] [ENSMUST00000203154] [ENSMUST00000204005] [ENSMUST00000206491]
AlphaFold Q9JKW0
Predicted Effect probably benign
Transcript: ENSMUST00000032888
AA Change: R7H

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000032888
Gene: ENSMUSG00000030654
AA Change: R7H

DomainStartEndE-ValueType
transmembrane domain 42 61 N/A INTRINSIC
transmembrane domain 66 88 N/A INTRINSIC
transmembrane domain 136 153 N/A INTRINSIC
transmembrane domain 158 180 N/A INTRINSIC
low complexity region 192 203 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000032891
SMART Domains Protein: ENSMUSP00000032891
Gene: ENSMUSG00000030655

DomainStartEndE-ValueType
low complexity region 42 55 N/A INTRINSIC
SCOP:d1gw5a_ 147 621 7e-7 SMART
Pfam:SMG1 629 1240 9.8e-249 PFAM
low complexity region 1540 1551 N/A INTRINSIC
SCOP:d1gw5a_ 1680 1942 8e-3 SMART
low complexity region 2125 2141 N/A INTRINSIC
PI3Kc 2149 2493 7.93e-50 SMART
low complexity region 2759 2770 N/A INTRINSIC
low complexity region 3425 3442 N/A INTRINSIC
FATC 3626 3658 8.66e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000179331
SMART Domains Protein: ENSMUSP00000137592
Gene: ENSMUSG00000030655

DomainStartEndE-ValueType
low complexity region 18 31 N/A INTRINSIC
SCOP:d1gw5a_ 71 545 1e-6 SMART
low complexity region 602 612 N/A INTRINSIC
low complexity region 631 646 N/A INTRINSIC
low complexity region 698 718 N/A INTRINSIC
low complexity region 898 915 N/A INTRINSIC
low complexity region 1135 1147 N/A INTRINSIC
low complexity region 1464 1475 N/A INTRINSIC
low complexity region 2049 2065 N/A INTRINSIC
PI3Kc 2073 2417 7.93e-50 SMART
low complexity region 2683 2694 N/A INTRINSIC
low complexity region 3349 3366 N/A INTRINSIC
FATC 3550 3582 8.66e-12 SMART
Predicted Effect unknown
Transcript: ENSMUST00000203154
AA Change: R7H
Predicted Effect unknown
Transcript: ENSMUST00000204005
AA Change: R7H
SMART Domains Protein: ENSMUSP00000145418
Gene: ENSMUSG00000030654
AA Change: R7H

DomainStartEndE-ValueType
low complexity region 8 17 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205182
Predicted Effect probably benign
Transcript: ENSMUST00000206491
AA Change: R7H

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206536
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.7%
Validation Efficiency 98% (50/51)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the ARL6ip family and encodes a transmembrane protein that is predominantly localized to intracytoplasmic membranes. It is highly expressed in early myeloid progenitor cells and thought to be involved in protein transport, membrane trafficking, or cell signaling during hematopoietic maturation. Mutations in this gene are associated with spastic paraplegia 61 (SPG61). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2015]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931406B18Rik A C 7: 43,147,496 (GRCm39) S198A possibly damaging Het
Adamts15 A T 9: 30,833,448 (GRCm39) I29N probably damaging Het
Ankrd61 A T 5: 143,830,438 (GRCm39) I33N probably damaging Het
Atp8a2 A T 14: 60,011,470 (GRCm39) D946E probably benign Het
Cc2d2b A T 19: 40,766,573 (GRCm39) Q114L probably damaging Het
Ccdc163 T A 4: 116,566,261 (GRCm39) S16R possibly damaging Het
Chil6 C T 3: 106,311,576 (GRCm39) C68Y probably damaging Het
Cngb3 G T 4: 19,375,231 (GRCm39) R287L probably benign Het
Crem C T 18: 3,325,428 (GRCm39) R16H probably benign Het
Cyp4f16 C T 17: 32,763,118 (GRCm39) R188C probably benign Het
Dap A G 15: 31,273,353 (GRCm39) D46G probably damaging Het
Dnah7c C A 1: 46,688,500 (GRCm39) T1890K probably benign Het
Dnah7c A G 1: 46,688,511 (GRCm39) S1894G probably benign Het
Enam T C 5: 88,650,776 (GRCm39) Y687H probably damaging Het
Fzd4 A T 7: 89,054,010 (GRCm39) D39V possibly damaging Het
Ggta1 G T 2: 35,292,306 (GRCm39) H334N probably benign Het
Golga3 C T 5: 110,365,996 (GRCm39) R1254* probably null Het
Gpt2 G A 8: 86,244,681 (GRCm39) E325K probably benign Het
Helz2 C T 2: 180,881,350 (GRCm39) W377* probably null Het
Hfm1 T C 5: 106,995,553 (GRCm39) D1286G probably benign Het
Hhatl T C 9: 121,613,768 (GRCm39) R425G probably damaging Het
Hivep3 G A 4: 119,980,146 (GRCm39) R1728H probably damaging Het
Hyal1 A G 9: 107,456,570 (GRCm39) Y419C probably damaging Het
Ighv8-12 A T 12: 115,611,644 (GRCm39) D84E possibly damaging Het
Itln1 A G 1: 171,345,940 (GRCm39) F271L possibly damaging Het
Klra7 C A 6: 130,206,908 (GRCm39) L64F probably benign Het
Kmt2a A T 9: 44,740,108 (GRCm39) C1878* probably null Het
Mia2 C A 12: 59,201,148 (GRCm39) Q825K possibly damaging Het
Mmp12 C A 9: 7,355,345 (GRCm39) P294Q possibly damaging Het
Nedd4 A G 9: 72,638,553 (GRCm39) N480S possibly damaging Het
Or4c12b A T 2: 89,647,240 (GRCm39) E190V probably benign Het
Or4e5 C T 14: 52,728,250 (GRCm39) R57Q probably benign Het
Pax6 T A 2: 105,516,175 (GRCm39) M151K probably benign Het
Pgm2 A G 5: 64,269,437 (GRCm39) Y508C probably benign Het
Ptpn20 T C 14: 33,354,897 (GRCm39) F324S probably damaging Het
Recql A G 6: 142,310,160 (GRCm39) probably null Het
Rerg A G 6: 137,033,384 (GRCm39) V97A probably damaging Het
Rffl C A 11: 82,703,605 (GRCm39) C106F probably damaging Het
Scaper T G 9: 55,765,788 (GRCm39) N499T probably benign Het
Sfxn3 G A 19: 45,038,354 (GRCm39) probably null Het
Slc36a4 A G 9: 15,634,874 (GRCm39) S139G probably benign Het
Slco2b1 T A 7: 99,316,376 (GRCm39) M385L probably benign Het
Smg8 T C 11: 86,977,372 (GRCm39) T70A probably benign Het
Spats2l A T 1: 57,985,336 (GRCm39) K463M probably damaging Het
Thbs4 T C 13: 92,893,044 (GRCm39) I715V probably benign Het
Tmem234 T A 4: 129,501,264 (GRCm39) M113K possibly damaging Het
Vmn2r10 T C 5: 109,143,488 (GRCm39) I821V probably null Het
Vmn2r116 A T 17: 23,607,805 (GRCm39) K458* probably null Het
Vmn2r76 T A 7: 85,878,059 (GRCm39) N446I possibly damaging Het
Vmn2r95 T A 17: 18,660,622 (GRCm39) Y345N probably damaging Het
Other mutations in Arl6ip1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1412:Arl6ip1 UTSW 7 117,719,591 (GRCm39) missense possibly damaging 0.96
R4155:Arl6ip1 UTSW 7 117,721,122 (GRCm39) critical splice donor site probably benign
R4156:Arl6ip1 UTSW 7 117,721,122 (GRCm39) critical splice donor site probably benign
R4157:Arl6ip1 UTSW 7 117,721,122 (GRCm39) critical splice donor site probably benign
R4201:Arl6ip1 UTSW 7 117,721,122 (GRCm39) critical splice donor site probably benign
R4206:Arl6ip1 UTSW 7 117,721,122 (GRCm39) critical splice donor site probably benign
R4271:Arl6ip1 UTSW 7 117,721,122 (GRCm39) critical splice donor site probably benign
R4276:Arl6ip1 UTSW 7 117,721,122 (GRCm39) critical splice donor site probably benign
R4277:Arl6ip1 UTSW 7 117,721,122 (GRCm39) critical splice donor site probably benign
R4278:Arl6ip1 UTSW 7 117,721,122 (GRCm39) critical splice donor site probably benign
R4280:Arl6ip1 UTSW 7 117,721,122 (GRCm39) critical splice donor site probably benign
R4281:Arl6ip1 UTSW 7 117,721,122 (GRCm39) critical splice donor site probably benign
R4283:Arl6ip1 UTSW 7 117,721,122 (GRCm39) critical splice donor site probably benign
R4330:Arl6ip1 UTSW 7 117,721,122 (GRCm39) critical splice donor site probably benign
R4502:Arl6ip1 UTSW 7 117,721,122 (GRCm39) critical splice donor site probably benign
R4503:Arl6ip1 UTSW 7 117,721,122 (GRCm39) critical splice donor site probably benign
R4547:Arl6ip1 UTSW 7 117,721,122 (GRCm39) critical splice donor site probably benign
R4548:Arl6ip1 UTSW 7 117,721,122 (GRCm39) critical splice donor site probably benign
R4580:Arl6ip1 UTSW 7 117,721,122 (GRCm39) critical splice donor site probably benign
R4604:Arl6ip1 UTSW 7 117,721,122 (GRCm39) critical splice donor site probably benign
R4774:Arl6ip1 UTSW 7 117,721,208 (GRCm39) missense probably damaging 1.00
R4804:Arl6ip1 UTSW 7 117,728,775 (GRCm39) splice site probably null
R4805:Arl6ip1 UTSW 7 117,721,122 (GRCm39) critical splice donor site probably benign
R4807:Arl6ip1 UTSW 7 117,721,122 (GRCm39) critical splice donor site probably benign
R6211:Arl6ip1 UTSW 7 117,726,473 (GRCm39) missense probably benign 0.44
R7548:Arl6ip1 UTSW 7 117,725,733 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CAGGTTCCTTCTTGCCACAG -3'
(R):5'- TCAAGTCATGCGCTAGCTG -3'

Sequencing Primer
(F):5'- ACTTCCTCACGCACGGC -3'
(R):5'- GAGTGCGGTCTACCCAATGAG -3'
Posted On 2018-07-23