Incidental Mutation 'R4804:Arl6ip1'
ID 370545
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 041998-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4804 (G1)
Quality Score 219
Status Validated
Chromosome 7
Chromosomal Location 117718113-117728848 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 117728775 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000146175 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032888] [ENSMUST00000032891] [ENSMUST00000203154] [ENSMUST00000204005] [ENSMUST00000206491]
AlphaFold Q9JKW0
Predicted Effect probably benign
Transcript: ENSMUST00000032888
SMART Domains Protein: ENSMUSP00000032888
Gene: ENSMUSG00000030654

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 probably benign
Transcript: ENSMUST00000203154
Predicted Effect probably benign
Transcript: ENSMUST00000204005
SMART Domains Protein: ENSMUSP00000145418
Gene: ENSMUSG00000030654

DomainStartEndE-ValueType
low complexity region 8 17 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205182
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206536
Predicted Effect probably null
Transcript: ENSMUST00000206491
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.2%
Validation Efficiency 99% (78/79)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930527J03Rik T C 1: 178,103,675 (GRCm39) noncoding transcript Het
Ap4e1 T C 2: 126,885,678 (GRCm39) probably null Het
Apbb1ip T C 2: 22,713,610 (GRCm39) probably null Het
Apol11b T A 15: 77,519,466 (GRCm39) I205F probably damaging Het
Barx2 A G 9: 31,758,108 (GRCm39) S277P unknown Het
BC035947 T G 1: 78,474,513 (GRCm39) D673A probably damaging Het
Cacna2d1 A T 5: 16,564,206 (GRCm39) I930F probably damaging Het
Cd226 T C 18: 89,225,292 (GRCm39) V63A possibly damaging Het
Cdk8 A G 5: 146,233,209 (GRCm39) K236E probably damaging Het
Cds1 T C 5: 101,969,389 (GRCm39) L449P probably damaging Het
Celsr1 T C 15: 85,822,154 (GRCm39) D1721G possibly damaging Het
Chtf18 T C 17: 25,938,231 (GRCm39) D934G probably benign Het
Clk4 T A 11: 51,172,150 (GRCm39) L271Q probably damaging Het
Cnnm1 C A 19: 43,480,014 (GRCm39) T853N probably benign Het
Col26a1 A G 5: 136,865,579 (GRCm39) V103A probably damaging Het
D5Ertd579e C T 5: 36,786,996 (GRCm39) probably null Het
Ddx39a A G 8: 84,447,724 (GRCm39) K190E probably damaging Het
Dgkg G A 16: 22,393,943 (GRCm39) probably benign Het
Dnajc14 A T 10: 128,649,926 (GRCm39) H477L probably benign Het
Dytn A G 1: 63,682,525 (GRCm39) V374A probably benign Het
Gfra2 T C 14: 71,163,361 (GRCm39) Y215H possibly damaging Het
Grik1 A G 16: 87,754,457 (GRCm39) I376T probably damaging Het
Gzmm A T 10: 79,530,890 (GRCm39) T231S probably benign Het
Hecw1 A G 13: 14,480,570 (GRCm39) S499P probably benign Het
Hhla1 T C 15: 65,794,948 (GRCm39) I511V probably benign Het
Ifnlr1 A G 4: 135,432,647 (GRCm39) D361G possibly damaging Het
Ikzf3 A G 11: 98,381,400 (GRCm39) V60A probably benign Het
Ipo4 G C 14: 55,868,313 (GRCm39) R495G possibly damaging Het
Kat2b-ps A T 5: 93,540,392 (GRCm39) noncoding transcript Het
Kdm1b C T 13: 47,216,553 (GRCm39) R308W probably damaging Het
Mblac2 T A 13: 81,898,428 (GRCm39) L268* probably null Het
Mipep C T 14: 61,040,401 (GRCm39) T307I probably damaging Het
Ms4a14 A G 19: 11,281,404 (GRCm39) S385P possibly damaging Het
Myh2 T A 11: 67,077,328 (GRCm39) I821N possibly damaging Het
Myo5c A T 9: 75,152,306 (GRCm39) I65F probably damaging Het
Neurog1 A G 13: 56,399,579 (GRCm39) L56P probably benign Het
Nrsn1 C A 13: 25,437,580 (GRCm39) C116F probably benign Het
Nscme3l A T 19: 5,553,028 (GRCm39) M251K possibly damaging Het
Nynrin T C 14: 56,102,326 (GRCm39) V665A probably benign Het
Or10w1 A G 19: 13,631,882 (GRCm39) M30V probably benign Het
Or2w1b T A 13: 21,300,175 (GRCm39) Y104* probably null Het
Or5ak20 T C 2: 85,183,425 (GRCm39) I282V probably benign Het
Pakap T C 4: 57,854,688 (GRCm39) S67P probably benign Het
Pcdhac1 C T 18: 37,224,231 (GRCm39) S348L possibly damaging Het
Pcnx4 T C 12: 72,620,976 (GRCm39) I932T probably benign Het
Pfkl G A 10: 77,827,228 (GRCm39) T486I probably benign Het
Pi4ka A T 16: 17,126,025 (GRCm39) M1115K possibly damaging Het
Rilpl1 A G 5: 124,631,828 (GRCm39) W173R probably damaging Het
Rnf111 A T 9: 70,338,239 (GRCm39) C900S possibly damaging Het
Ryr2 A G 13: 11,731,983 (GRCm39) V2319A probably damaging Het
Scnn1g AATCCTGCAGGTGA AA 7: 121,362,303 (GRCm39) probably null Het
Slc25a13 A T 6: 6,109,213 (GRCm39) L383H probably damaging Het
Slco2a1 C T 9: 102,950,383 (GRCm39) P325L probably damaging Het
Stoml2 T C 4: 43,029,882 (GRCm39) N162S probably benign Het
Syne1 G T 10: 5,299,310 (GRCm39) Q982K possibly damaging Het
Tbc1d31 C T 15: 57,814,502 (GRCm39) Q568* probably null Het
Tbc1d9 G A 8: 83,982,554 (GRCm39) probably null Het
Tbx3 A G 5: 119,818,577 (GRCm39) D384G possibly damaging Het
Tecta T C 9: 42,309,533 (GRCm39) I14V probably benign Het
Tgm1 A T 14: 55,943,076 (GRCm39) V588E probably benign Het
Tpk1 A C 6: 43,570,012 (GRCm39) probably benign Het
Tspear A T 10: 77,612,791 (GRCm39) probably null Het
Ubxn10 G T 4: 138,448,515 (GRCm39) Q54K possibly damaging Het
Ubxn4 C T 1: 128,194,141 (GRCm39) R312* probably null Het
Vmn1r230 A T 17: 21,067,345 (GRCm39) K178M probably damaging Het
Zfp143 G A 7: 109,687,976 (GRCm39) V445I probably damaging Het
Zfp688 C A 7: 127,021,057 (GRCm39) W40C 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
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
R6651:Arl6ip1 UTSW 7 117,728,708 (GRCm39) missense probably benign 0.00
R7548:Arl6ip1 UTSW 7 117,725,733 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCTTATGGTGCAGGATTCCG -3'
(R):5'- GACCTGGATTTCAAGTCATGCG -3'

Sequencing Primer
(F):5'- ACGTTGGGGATCGCCAG -3'
(R):5'- GATTTCAAGTCATGCGCTAGC -3'
Posted On 2016-02-04