Incidental Mutation 'R4805:Arl6ip1'
ID 401884
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 041999-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4805 (G1)
Quality Score 138
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: 99.1%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 92.7%
Validation Efficiency 99% (69/70)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik T A 15: 81,950,628 (GRCm39) Y1508* probably null Het
4931414P19Rik T C 14: 54,832,911 (GRCm39) E88G probably benign Het
Acaa1b A G 9: 118,986,014 (GRCm39) S17P probably benign Het
Arhgef7 G A 8: 11,881,552 (GRCm39) E565K probably damaging Het
Bpnt1 T A 1: 185,077,504 (GRCm39) probably null Het
Ccnt1 C T 15: 98,442,189 (GRCm39) V360I probably benign Het
Chd4 T C 6: 125,105,908 (GRCm39) S1829P possibly damaging Het
Dennd1b A T 1: 138,981,122 (GRCm39) N112I probably damaging Het
Fat2 A T 11: 55,174,805 (GRCm39) D1969E probably benign Het
Flywch1 A C 17: 23,979,591 (GRCm39) D394E probably benign Het
Gal3st4 T A 5: 138,263,733 (GRCm39) probably null Het
Gm14403 T C 2: 177,200,492 (GRCm39) L146P probably damaging Het
Gm5283 G T 3: 17,285,123 (GRCm39) noncoding transcript Het
Gpr161 T A 1: 165,134,029 (GRCm39) L97Q probably damaging Het
Gstm2 A T 3: 107,892,411 (GRCm39) M105K possibly damaging Het
Hecw2 A G 1: 53,880,018 (GRCm39) Y1264H probably damaging Het
Ifi206 T A 1: 173,308,952 (GRCm39) Q348L possibly damaging Het
Ighv1-83 A T 12: 115,927,489 (GRCm39) M87K possibly damaging Het
Ighv2-7 A T 12: 113,771,154 (GRCm39) S44T probably damaging Het
Ipo7 T A 7: 109,650,691 (GRCm39) N884K probably benign Het
Itga2b T C 11: 102,358,692 (GRCm39) N75S probably benign Het
Krt20 A G 11: 99,319,811 (GRCm39) V431A unknown Het
Krt24 A T 11: 99,174,452 (GRCm39) I205N possibly damaging Het
Lmo2 T C 2: 103,811,407 (GRCm39) Y147H probably damaging Het
Lrrc31 A T 3: 30,745,446 (GRCm39) L67* probably null Het
Lrrc37a A G 11: 103,395,135 (GRCm39) F97L probably benign Het
Mapkap1 G A 2: 34,487,434 (GRCm39) probably null Het
Mgat4d T G 8: 84,084,787 (GRCm39) probably null Het
Mrgprb3 C T 7: 48,293,054 (GRCm39) V166I probably benign Het
Myh11 T A 16: 14,052,329 (GRCm39) Q379L possibly damaging Het
Myh7 T C 14: 55,222,590 (GRCm39) S782G probably benign Het
Nobox T C 6: 43,282,053 (GRCm39) D340G probably damaging Het
Ntn4 C T 10: 93,480,362 (GRCm39) R29C probably damaging Het
Or2t29 G A 11: 58,433,396 (GRCm39) T315I probably benign Het
Or5b101 T A 19: 13,005,661 (GRCm39) I11F probably benign Het
Pikfyve T A 1: 65,307,959 (GRCm39) I1845N probably damaging Het
Pramel15 A G 4: 144,103,590 (GRCm39) Y179H probably benign Het
Rad21l T G 2: 151,509,927 (GRCm39) H58P probably damaging Het
Scnn1g T C 7: 121,345,825 (GRCm39) L316S probably damaging Het
Serpina5 G A 12: 104,068,460 (GRCm39) V174I probably damaging Het
Shank1 T C 7: 43,993,135 (GRCm39) S788P unknown Het
Shisal1 T A 15: 84,301,397 (GRCm39) H82L probably damaging Het
Snap47 A G 11: 59,319,343 (GRCm39) V265A possibly damaging Het
Steap3 T A 1: 120,171,616 (GRCm39) H163L probably benign Het
Sycp2 T C 2: 178,035,754 (GRCm39) probably benign Het
Tet2 A G 3: 133,173,076 (GRCm39) F1729L probably benign Het
Thsd7b T C 1: 130,116,276 (GRCm39) V1343A probably benign Het
Thumpd2 G A 17: 81,334,130 (GRCm39) T486I probably damaging Het
Ttc41 G T 10: 86,565,662 (GRCm39) M405I possibly damaging Het
Ttn T C 2: 76,577,873 (GRCm39) D24340G probably damaging Het
Vmn1r10 T G 6: 57,090,602 (GRCm39) F65V possibly damaging Het
Vmn2r118 G T 17: 55,899,581 (GRCm39) D774E probably damaging Het
Vmn2r13 C T 5: 109,304,331 (GRCm39) C700Y probably damaging Het
Wsb1 A C 11: 79,131,217 (GRCm39) M393R possibly damaging Het
Zmat3 A G 3: 32,397,504 (GRCm39) Y214H probably benign Het
Zswim3 C T 2: 164,662,099 (GRCm39) T193I possibly 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
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'- GGGAGGTCAAGAGTCTTAGCTG -3'

Sequencing Primer
(F):5'- CCAGTTAGCACTTCCCACC -3'
(R):5'- GTGGAAACGCCTCTTTTC -3'
Posted On 2016-07-15