Incidental Mutation 'IGL00329:Arcn1'
| ID |
332276 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Arcn1
|
| Ensembl Gene |
ENSMUSG00000032096 |
| Gene Name |
archain 1 |
| Synonyms |
4632432M07Rik, pale coat neuro, nur17, delta-COP |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00329
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
44653440-44679105 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 44670333 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Stop codon
at position 98
(E98*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034607
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034607]
|
| AlphaFold |
Q5XJY5 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000034607
AA Change: E98*
|
| SMART Domains |
Protein: ENSMUSP00000034607
Gene: ENSMUSG00000032096
AA Change: E98*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Clat_adaptor_s
|
3 |
140 |
5.6e-8 |
PFAM |
|
coiled coil region
|
145 |
180 |
N/A |
INTRINSIC |
|
low complexity region
|
200 |
207 |
N/A |
INTRINSIC |
|
Pfam:Adap_comp_sub
|
261 |
510 |
6.8e-38 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125164
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150160
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217199
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene maps in a region, which include the mixed lineage leukemia and Friend leukemia virus integration 1 genes, where multiple disease-associated chromosome translocations occur. It is an intracellular protein. Archain sequences are well conserved among eukaryotes and this protein may play a fundamental role in eukaryotic cell biology. It has similarities to heat shock proteins and clathrin-associated proteins, and may be involved in vesicle structure or trafficking. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a spontaneous mutation have a dilute coat color and neurological defects. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad9 |
A |
G |
3: 36,123,911 (GRCm39) |
N72S |
probably benign |
Het |
| Aopep |
T |
A |
13: 63,338,977 (GRCm39) |
I623N |
probably damaging |
Het |
| Apba3 |
C |
T |
10: 81,108,901 (GRCm39) |
P555S |
probably damaging |
Het |
| Cimip2b |
G |
A |
4: 43,428,158 (GRCm39) |
R100W |
possibly damaging |
Het |
| Col28a1 |
G |
T |
6: 8,175,425 (GRCm39) |
T141K |
probably damaging |
Het |
| Dna2 |
T |
C |
10: 62,802,222 (GRCm39) |
F811S |
probably damaging |
Het |
| Dusp19 |
T |
A |
2: 80,461,269 (GRCm39) |
I186K |
probably damaging |
Het |
| Dync2li1 |
A |
G |
17: 84,952,154 (GRCm39) |
D195G |
possibly damaging |
Het |
| Epm2aip1 |
T |
C |
9: 111,101,855 (GRCm39) |
V276A |
possibly damaging |
Het |
| Extl3 |
T |
C |
14: 65,313,070 (GRCm39) |
E704G |
probably benign |
Het |
| Gle1 |
T |
C |
2: 29,829,301 (GRCm39) |
|
probably benign |
Het |
| Gm2178 |
C |
A |
14: 26,235,767 (GRCm39) |
|
probably benign |
Het |
| Gm4553 |
T |
C |
7: 141,718,964 (GRCm39) |
S155G |
unknown |
Het |
| Herc2 |
T |
A |
7: 55,774,047 (GRCm39) |
L1166Q |
probably damaging |
Het |
| Hsd11b2 |
A |
G |
8: 106,249,759 (GRCm39) |
E290G |
probably benign |
Het |
| Inpp5d |
T |
C |
1: 87,595,725 (GRCm39) |
V157A |
probably benign |
Het |
| Krt72 |
T |
A |
15: 101,693,434 (GRCm39) |
Q160L |
probably damaging |
Het |
| Lrrd1 |
A |
G |
5: 3,900,081 (GRCm39) |
K129E |
possibly damaging |
Het |
| Mapk13 |
A |
G |
17: 28,995,379 (GRCm39) |
Y200C |
probably damaging |
Het |
| Mme |
G |
A |
3: 63,287,749 (GRCm39) |
W750* |
probably null |
Het |
| Nat8l |
C |
T |
5: 34,155,761 (GRCm39) |
P139L |
probably damaging |
Het |
| Nrtn |
C |
A |
17: 57,058,569 (GRCm39) |
R144L |
probably benign |
Het |
| Or52h9 |
C |
A |
7: 104,202,299 (GRCm39) |
P58T |
probably benign |
Het |
| Pate12 |
G |
A |
9: 36,344,198 (GRCm39) |
|
probably benign |
Het |
| Pdgfa |
T |
A |
5: 138,974,216 (GRCm39) |
|
probably benign |
Het |
| Rtp3 |
A |
G |
9: 110,815,666 (GRCm39) |
V233A |
probably benign |
Het |
| Syne2 |
A |
G |
12: 76,078,474 (GRCm39) |
|
probably benign |
Het |
| Trappc10 |
A |
T |
10: 78,039,711 (GRCm39) |
|
probably benign |
Het |
| Usp24 |
A |
G |
4: 106,216,288 (GRCm39) |
T380A |
probably benign |
Het |
| Vmn1r21 |
A |
T |
6: 57,821,049 (GRCm39) |
S132T |
probably benign |
Het |
|
| Other mutations in Arcn1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00473:Arcn1
|
APN |
9 |
44,668,444 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00909:Arcn1
|
APN |
9 |
44,662,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01341:Arcn1
|
APN |
9 |
44,668,489 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL02074:Arcn1
|
APN |
9 |
44,670,309 (GRCm39) |
missense |
probably benign |
0.30 |
|
IGL02640:Arcn1
|
APN |
9 |
44,662,614 (GRCm39) |
missense |
probably damaging |
0.99 |
|
greyhound
|
UTSW |
9 |
44,661,691 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
PIT4402001:Arcn1
|
UTSW |
9 |
44,656,899 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0323:Arcn1
|
UTSW |
9 |
44,670,356 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0834:Arcn1
|
UTSW |
9 |
44,670,172 (GRCm39) |
splice site |
probably benign |
|
|
R1552:Arcn1
|
UTSW |
9 |
44,670,291 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5114:Arcn1
|
UTSW |
9 |
44,671,441 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5196:Arcn1
|
UTSW |
9 |
44,671,324 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5327:Arcn1
|
UTSW |
9 |
44,668,444 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6750:Arcn1
|
UTSW |
9 |
44,661,691 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8809:Arcn1
|
UTSW |
9 |
44,655,259 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R9458:Arcn1
|
UTSW |
9 |
44,671,267 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Arcn1
|
UTSW |
9 |
44,668,550 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-08-05 |
Incidental Mutation