Incidental Mutation 'R4283:Arl6ip1'
ID 377714
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 041651-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4283 (G1)
Quality Score 217
Status Validated
Chromosome 7
Chromosomal Location 117718113-117728848 bp(-) (GRCm39)
Type of Mutation critical splice donor site
DNA Base Change (assembly) AAAATAAATAAATAAATAAATAAATA to AAAATAAATAAATAAATAAATAAATAAATA at 117721122 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000146175 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032888] [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: 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 probably benign
Transcript: ENSMUST00000206491
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206536
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 100% (41/41)
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6030468B19Rik A G 11: 117,697,087 (GRCm39) T229A probably benign Het
Adgrg5 T G 8: 95,664,326 (GRCm39) V312G probably benign Het
Camk2b A C 11: 5,937,099 (GRCm39) S327A probably benign Het
Card9 A G 2: 26,247,309 (GRCm39) I280T possibly damaging Het
Cd274 A T 19: 29,357,871 (GRCm39) M188L probably benign Het
Cga T C 4: 34,905,264 (GRCm39) probably null Het
Copg1 C T 6: 87,885,527 (GRCm39) T723M probably damaging Het
Cplx2 A G 13: 54,527,377 (GRCm39) E87G probably damaging Het
Crtc2 A G 3: 90,166,543 (GRCm39) probably benign Het
Defa27 A G 8: 21,805,632 (GRCm39) N24S probably benign Het
Defb40 A G 8: 19,028,093 (GRCm39) S14P probably damaging Het
Dnmt3a G A 12: 3,951,665 (GRCm39) G681R probably damaging Het
Ghr C A 15: 3,362,930 (GRCm39) V181L possibly damaging Het
Gm10750 A G 2: 148,857,916 (GRCm39) F112L unknown Het
Gm17541 A G 12: 4,739,656 (GRCm39) probably benign Het
Gmip T A 8: 70,266,251 (GRCm39) probably benign Het
Hdac10 A G 15: 89,009,826 (GRCm39) L402P possibly damaging Het
Hsd17b12 G C 2: 93,863,931 (GRCm39) R304G unknown Het
Iqgap3 T C 3: 88,006,167 (GRCm39) V526A probably benign Het
Ncaph A G 2: 126,963,005 (GRCm39) probably benign Het
Ninl T C 2: 150,795,336 (GRCm39) probably benign Het
Pcgf1 T A 6: 83,056,714 (GRCm39) L90Q probably damaging Het
Pcsk4 C A 10: 80,165,287 (GRCm39) probably benign Het
Ptpn21 T C 12: 98,699,734 (GRCm39) E60G probably damaging Het
Rec8 A G 14: 55,856,091 (GRCm39) H11R probably damaging Het
Ric1 A G 19: 29,563,950 (GRCm39) Y568C probably damaging Het
Slc17a6 A G 7: 51,294,824 (GRCm39) Y177C probably damaging Het
Tas2r104 C T 6: 131,662,374 (GRCm39) A112T probably damaging Het
Tas2r123 G A 6: 132,825,008 (GRCm39) V302I possibly damaging Het
Tas2r143 T A 6: 42,378,007 (GRCm39) probably null Het
Tfeb A G 17: 48,100,699 (GRCm39) E305G probably damaging Het
Ttn T A 2: 76,585,168 (GRCm39) I22042F probably damaging Het
Upf2 A G 2: 5,978,369 (GRCm39) N411S unknown Het
Vmn2r52 C T 7: 9,904,565 (GRCm39) G425R possibly damaging Het
Zfp28 A T 7: 6,396,700 (GRCm39) Q378H probably benign Het
Zfp429 A C 13: 67,538,914 (GRCm39) C177G 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
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
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'- GCTACCTTCCCAGTTAGCAC -3'
(R):5'- GAGGTCAAGAGTCTTAGCTGTC -3'

Sequencing Primer
(F):5'- CCAGTTAGCACTTCCCACC -3'
(R):5'- GTGGAAACGCCTCTTTTC -3'
Posted On 2016-03-22