Incidental Mutation 'R4547:Arl6ip1'
| ID |
377770 |
| 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 |
041781-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4547 (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
| 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: ENSMUST00000203154
|
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205182
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206491
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206536
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
| Validation Efficiency |
96% (55/57) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acin1 |
G |
T |
14: 54,883,124 (GRCm39) |
A909E |
probably benign |
Het |
| Ankrd13a |
A |
G |
5: 114,913,357 (GRCm39) |
E23G |
probably benign |
Het |
| Ano4 |
T |
C |
10: 88,817,032 (GRCm39) |
R148G |
probably null |
Het |
| Aspm |
T |
C |
1: 139,405,925 (GRCm39) |
V1604A |
possibly damaging |
Het |
| Cdh1 |
C |
A |
8: 107,390,535 (GRCm39) |
T625K |
probably damaging |
Het |
| Cfap65 |
G |
A |
1: 74,946,771 (GRCm39) |
T1313I |
probably damaging |
Het |
| Cfhr3 |
T |
G |
1: 139,512,651 (GRCm39) |
|
noncoding transcript |
Het |
| Csmd1 |
T |
C |
8: 16,441,811 (GRCm39) |
D351G |
possibly damaging |
Het |
| Dis3l2 |
A |
T |
1: 86,977,393 (GRCm39) |
T861S |
probably benign |
Het |
| Dnah6 |
A |
T |
6: 73,169,388 (GRCm39) |
D404E |
probably benign |
Het |
| Dpm1 |
A |
G |
2: 168,065,073 (GRCm39) |
L88P |
probably damaging |
Het |
| Fabp3 |
C |
T |
4: 130,206,245 (GRCm39) |
|
probably null |
Het |
| Fat4 |
T |
C |
3: 39,005,432 (GRCm39) |
F1944L |
probably damaging |
Het |
| Frmd4a |
C |
A |
2: 4,477,956 (GRCm39) |
L46I |
probably damaging |
Het |
| Gpr39 |
G |
A |
1: 125,605,728 (GRCm39) |
V219I |
probably benign |
Het |
| Hace1 |
T |
A |
10: 45,548,651 (GRCm39) |
|
probably null |
Het |
| Kdm1b |
C |
T |
13: 47,216,553 (GRCm39) |
R308W |
probably damaging |
Het |
| Klb |
T |
A |
5: 65,537,271 (GRCm39) |
V867E |
probably benign |
Het |
| Lnpk |
C |
G |
2: 74,352,630 (GRCm39) |
E351Q |
probably benign |
Het |
| Mettl25 |
T |
C |
10: 105,661,878 (GRCm39) |
D364G |
probably damaging |
Het |
| Mrc2 |
G |
A |
11: 105,227,467 (GRCm39) |
V567I |
probably benign |
Het |
| Mrm2 |
T |
C |
5: 140,314,251 (GRCm39) |
T195A |
probably benign |
Het |
| Naaa |
C |
T |
5: 92,411,445 (GRCm39) |
|
probably null |
Het |
| Ncdn |
A |
G |
4: 126,640,467 (GRCm39) |
F542S |
probably damaging |
Het |
| Nlrp4e |
A |
G |
7: 23,036,291 (GRCm39) |
N715D |
probably benign |
Het |
| Nup42 |
T |
C |
5: 24,382,968 (GRCm39) |
|
probably benign |
Het |
| Or10ag57 |
G |
A |
2: 87,218,504 (GRCm39) |
V152I |
probably benign |
Het |
| Or2t6 |
A |
T |
14: 14,175,854 (GRCm38) |
I76N |
probably damaging |
Het |
| Psg25 |
A |
G |
7: 18,258,629 (GRCm39) |
L349P |
probably damaging |
Het |
| Rnf213 |
G |
T |
11: 119,370,496 (GRCm39) |
|
probably null |
Het |
| Scara5 |
A |
C |
14: 65,908,023 (GRCm39) |
K4N |
possibly damaging |
Het |
| Slc35f5 |
T |
C |
1: 125,500,119 (GRCm39) |
L211S |
probably benign |
Het |
| Slc44a4 |
T |
A |
17: 35,146,731 (GRCm39) |
F285I |
probably damaging |
Het |
| Slc8a3 |
A |
G |
12: 81,361,625 (GRCm39) |
V398A |
possibly damaging |
Het |
| Smc2 |
T |
C |
4: 52,467,866 (GRCm39) |
S737P |
probably benign |
Het |
| Speer2 |
T |
C |
16: 69,655,737 (GRCm39) |
K30E |
probably damaging |
Het |
| Synj1 |
T |
C |
16: 90,785,170 (GRCm39) |
I229V |
possibly damaging |
Het |
| Tac1 |
A |
G |
6: 7,557,216 (GRCm39) |
D74G |
probably damaging |
Het |
| Tbc1d17 |
A |
G |
7: 44,490,771 (GRCm39) |
V607A |
probably benign |
Het |
| Tmem132a |
A |
G |
19: 10,837,564 (GRCm39) |
V582A |
possibly damaging |
Het |
| Traf4 |
A |
G |
11: 78,051,863 (GRCm39) |
I207T |
possibly damaging |
Het |
| Trio |
T |
C |
15: 27,819,068 (GRCm39) |
R449G |
possibly damaging |
Het |
| Ubn1 |
G |
A |
16: 4,889,956 (GRCm39) |
R407H |
probably damaging |
Het |
| Vmn1r19 |
C |
T |
6: 57,381,774 (GRCm39) |
T109I |
possibly damaging |
Het |
| Vmn2r60 |
A |
G |
7: 41,785,087 (GRCm39) |
T100A |
probably null |
Het |
| Vsig8 |
A |
T |
1: 172,388,163 (GRCm39) |
M44L |
probably benign |
Het |
| Zbed5 |
T |
A |
5: 129,931,692 (GRCm39) |
L547* |
probably null |
Het |
|
| Other mutations in Arl6ip1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
|
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'- AGCTACCTTCCCAGTTAGCAC -3'
(R):5'- GGAGGTCAAGAGTCTTAGCTGTC -3'
Sequencing Primer
(F):5'- CCAGTTAGCACTTCCCACC -3'
(R):5'- GTGGAAACGCCTCTTTTC -3'
|
| Posted On |
2016-04-04 |
Incidental Mutation