Incidental Mutation 'R1412:Arl6ip1'
| ID |
159633 |
| 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 |
039468-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1412 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
117718113-117728848 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 117719591 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 179
(I179T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032888
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032888]
[ENSMUST00000106588]
[ENSMUST00000106590]
[ENSMUST00000128482]
[ENSMUST00000131374]
[ENSMUST00000131840]
[ENSMUST00000203154]
[ENSMUST00000206491]
[ENSMUST00000204005]
|
| AlphaFold |
Q9JKW0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000032888
AA Change: I179T
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000032888
Gene: ENSMUSG00000030654
AA Change: I179T
| Domain | Start | End | E-Value | Type |
|---|
|
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: ENSMUST00000106588
|
| SMART Domains |
Protein: ENSMUSP00000102198
Gene: ENSMUSG00000008683
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ribosomal_S8
|
5 |
130 |
1.7e-29 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106590
|
| SMART Domains |
Protein: ENSMUSP00000102200
Gene: ENSMUSG00000008683
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ribosomal_S8
|
5 |
108 |
3.3e-19 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128482
|
| SMART Domains |
Protein: ENSMUSP00000114544
Gene: ENSMUSG00000008683
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ribosomal_S8
|
5 |
68 |
9.4e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131374
|
| SMART Domains |
Protein: ENSMUSP00000119975
Gene: ENSMUSG00000008683
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ribosomal_S8
|
5 |
130 |
1.7e-29 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131840
|
| SMART Domains |
Protein: ENSMUSP00000116061
Gene: ENSMUSG00000008683
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ribosomal_S8
|
5 |
67 |
1.1e-15 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203154
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206491
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205182
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204005
|
| SMART Domains |
Protein: ENSMUSP00000145418
Gene: ENSMUSG00000030654
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
17 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.6367 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.8%
- 10x: 94.4%
- 20x: 86.5%
|
| Validation Efficiency |
98% (48/49) |
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810009A15Rik |
T |
C |
19: 8,867,359 (GRCm39) |
|
probably benign |
Het |
| Abca15 |
C |
T |
7: 119,944,546 (GRCm39) |
R394C |
possibly damaging |
Het |
| Adamts9 |
T |
C |
6: 92,773,414 (GRCm39) |
Q1152R |
probably benign |
Het |
| Adgrv1 |
C |
T |
13: 81,243,569 (GRCm39) |
G6277E |
probably damaging |
Het |
| Agbl2 |
A |
G |
2: 90,619,298 (GRCm39) |
N41S |
probably benign |
Het |
| Akap7 |
A |
T |
10: 25,165,495 (GRCm39) |
|
probably null |
Het |
| Atp1a4 |
C |
T |
1: 172,059,576 (GRCm39) |
D839N |
probably damaging |
Het |
| B3galt4 |
G |
A |
17: 34,169,813 (GRCm39) |
R142C |
probably damaging |
Het |
| C1qtnf12 |
T |
C |
4: 156,047,190 (GRCm39) |
V52A |
probably benign |
Het |
| C1qtnf2 |
A |
G |
11: 43,381,959 (GRCm39) |
Y257C |
probably damaging |
Het |
| Cdc123 |
A |
T |
2: 5,808,776 (GRCm39) |
D233E |
possibly damaging |
Het |
| Chdh |
G |
A |
14: 29,756,680 (GRCm39) |
E369K |
probably benign |
Het |
| D630045J12Rik |
A |
G |
6: 38,172,695 (GRCm39) |
V491A |
probably benign |
Het |
| Focad |
T |
C |
4: 88,196,498 (GRCm39) |
|
probably null |
Het |
| Gabbr1 |
T |
C |
17: 37,365,805 (GRCm39) |
|
probably null |
Het |
| Hat1 |
G |
T |
2: 71,250,961 (GRCm39) |
E170* |
probably null |
Het |
| Hs3st5 |
A |
T |
10: 36,708,672 (GRCm39) |
H69L |
probably benign |
Het |
| Igsf10 |
T |
C |
3: 59,235,196 (GRCm39) |
|
probably benign |
Het |
| Itga2b |
A |
T |
11: 102,347,831 (GRCm39) |
L890Q |
probably benign |
Het |
| Or52e8b |
A |
G |
7: 104,673,402 (GRCm39) |
F262L |
probably damaging |
Het |
| Or7d11 |
C |
G |
9: 19,966,711 (GRCm39) |
G16A |
possibly damaging |
Het |
| Parp10 |
A |
G |
15: 76,127,284 (GRCm39) |
L51P |
probably damaging |
Het |
| Pbld2 |
A |
G |
10: 62,883,301 (GRCm39) |
T108A |
probably damaging |
Het |
| Pdlim2 |
A |
T |
14: 70,411,773 (GRCm39) |
|
probably benign |
Het |
| Pikfyve |
T |
C |
1: 65,241,989 (GRCm39) |
V243A |
possibly damaging |
Het |
| Pla2g12b |
G |
A |
10: 59,239,804 (GRCm39) |
|
probably null |
Het |
| Raly |
A |
G |
2: 154,699,315 (GRCm39) |
T40A |
possibly damaging |
Het |
| Rasgrp3 |
G |
T |
17: 75,816,822 (GRCm39) |
|
probably null |
Het |
| Rbpms2 |
ACTGCTGCTGCTGCTGC |
ACTGCTGCTGCTGCTGCTGC |
9: 65,558,948 (GRCm39) |
|
probably benign |
Het |
| Smim22 |
G |
C |
16: 4,825,649 (GRCm39) |
E11D |
possibly damaging |
Het |
| Socs2 |
T |
C |
10: 95,250,780 (GRCm39) |
S18G |
probably benign |
Het |
| Srgap2 |
T |
C |
1: 131,228,151 (GRCm39) |
E720G |
possibly damaging |
Het |
| Tas2r135 |
A |
G |
6: 42,382,768 (GRCm39) |
I102M |
probably benign |
Het |
| Tex19.2 |
A |
G |
11: 121,007,761 (GRCm39) |
V229A |
possibly damaging |
Het |
| Vmn1r234 |
T |
A |
17: 21,449,512 (GRCm39) |
I142N |
probably benign |
Het |
| Vps35l |
A |
T |
7: 118,409,194 (GRCm39) |
I612F |
probably damaging |
Het |
| Vwa3a |
C |
T |
7: 120,379,377 (GRCm39) |
T494I |
probably damaging |
Het |
| Vwa8 |
C |
T |
14: 79,145,670 (GRCm39) |
R116C |
probably damaging |
Het |
| Zfhx3 |
A |
G |
8: 109,641,199 (GRCm39) |
D1166G |
possibly damaging |
Het |
|
| Other mutations in Arl6ip1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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'- TCTCCTCAGCAGAAGTGGTAAACCC -3'
(R):5'- CATTAAAGCCAGGTAGGTCGTGAGC -3'
Sequencing Primer
(F):5'- GTAGAACCAGCTTCCTGTAGC -3'
(R):5'- GTCCACCCACATTCAACTGTAGT -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation