Incidental Mutation 'IGL00473:Arcn1'
| ID |
4899 |
| 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 # |
IGL00473
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
44653440-44679105 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 44668444 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 264
(V264A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034607
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034607]
|
| AlphaFold |
Q5XJY5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034607
AA Change: V264A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000034607
Gene: ENSMUSG00000032096
AA Change: V264A
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217425
|
| 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 |
|---|
| Asap1 |
T |
C |
15: 64,045,064 (GRCm39) |
|
probably benign |
Het |
| Brpf1 |
A |
C |
6: 113,293,645 (GRCm39) |
Q571H |
probably damaging |
Het |
| C9orf72 |
C |
T |
4: 35,213,616 (GRCm39) |
G178E |
possibly damaging |
Het |
| Creb3 |
G |
T |
4: 43,565,517 (GRCm39) |
R232L |
probably benign |
Het |
| Cst5 |
G |
T |
2: 149,247,293 (GRCm39) |
S3I |
unknown |
Het |
| Cyp4a14 |
A |
G |
4: 115,347,149 (GRCm39) |
|
probably benign |
Het |
| Daxx |
C |
T |
17: 34,130,581 (GRCm39) |
Q199* |
probably null |
Het |
| Eml5 |
A |
G |
12: 98,771,751 (GRCm39) |
|
probably benign |
Het |
| Gbp6 |
T |
A |
5: 105,422,145 (GRCm39) |
K520* |
probably null |
Het |
| Gcfc2 |
T |
A |
6: 81,921,355 (GRCm39) |
C454S |
probably damaging |
Het |
| Gm9894 |
T |
A |
13: 67,913,236 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr15 |
C |
T |
16: 58,538,441 (GRCm39) |
C216Y |
probably damaging |
Het |
| Gzmn |
T |
C |
14: 56,404,436 (GRCm39) |
K134E |
probably benign |
Het |
| Kat2b |
T |
G |
17: 53,970,651 (GRCm39) |
I679S |
possibly damaging |
Het |
| Klhl10 |
A |
G |
11: 100,347,240 (GRCm39) |
Y478C |
probably damaging |
Het |
| Mapt |
A |
G |
11: 104,178,009 (GRCm39) |
D54G |
probably damaging |
Het |
| Mocs1 |
A |
G |
17: 49,740,229 (GRCm39) |
E52G |
probably benign |
Het |
| Plekhn1 |
T |
G |
4: 156,307,820 (GRCm39) |
T369P |
probably damaging |
Het |
| Prdm6 |
T |
A |
18: 53,673,357 (GRCm39) |
F172L |
probably benign |
Het |
| Prl7b1 |
A |
T |
13: 27,788,573 (GRCm39) |
V94D |
probably damaging |
Het |
| Rasal2 |
T |
C |
1: 156,975,387 (GRCm39) |
T1116A |
probably benign |
Het |
| Rreb1 |
A |
T |
13: 38,114,767 (GRCm39) |
K709* |
probably null |
Het |
| Ruvbl1 |
A |
T |
6: 88,468,550 (GRCm39) |
R357W |
probably damaging |
Het |
| Slc4a5 |
T |
C |
6: 83,273,579 (GRCm39) |
L973P |
probably damaging |
Het |
| Srp72 |
A |
G |
5: 77,132,023 (GRCm39) |
Y234C |
probably damaging |
Het |
| Synrg |
G |
A |
11: 83,930,072 (GRCm39) |
M1070I |
probably damaging |
Het |
| Zan |
A |
T |
5: 137,462,512 (GRCm39) |
I889K |
possibly damaging |
Het |
| Zbtb40 |
G |
A |
4: 136,714,651 (GRCm39) |
T1046M |
probably damaging |
Het |
| Zfp978 |
A |
G |
4: 147,475,317 (GRCm39) |
N288S |
probably benign |
Het |
| Zfpm2 |
A |
T |
15: 40,962,683 (GRCm39) |
K247M |
probably damaging |
Het |
|
| Other mutations in Arcn1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00329:Arcn1
|
APN |
9 |
44,670,333 (GRCm39) |
nonsense |
probably null |
|
|
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 |
2012-04-20 |
Incidental Mutation