Incidental Mutation 'IGL00909:Arcn1'
| ID |
28135 |
| 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 # |
IGL00909
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
44653440-44679105 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 44662651 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 332
(N332D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034607
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034607]
|
| AlphaFold |
Q5XJY5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034607
AA Change: N332D
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000034607
Gene: ENSMUSG00000032096
AA Change: N332D
| 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: ENSMUST00000217194
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931429L15Rik |
T |
A |
9: 46,220,250 (GRCm39) |
D94V |
possibly damaging |
Het |
| Adamts20 |
T |
C |
15: 94,277,694 (GRCm39) |
Y256C |
probably damaging |
Het |
| Ajm1 |
A |
G |
2: 25,469,419 (GRCm39) |
L164P |
probably damaging |
Het |
| Ampd1 |
A |
C |
3: 102,995,744 (GRCm39) |
D218A |
probably benign |
Het |
| Arpp21 |
T |
A |
9: 112,005,191 (GRCm39) |
I219F |
probably damaging |
Het |
| Bicra |
A |
T |
7: 15,730,502 (GRCm39) |
D5E |
possibly damaging |
Het |
| Birc2 |
A |
C |
9: 7,833,666 (GRCm39) |
W272G |
probably damaging |
Het |
| Cd2ap |
A |
T |
17: 43,141,005 (GRCm39) |
|
probably benign |
Het |
| Celsr1 |
G |
A |
15: 85,806,436 (GRCm39) |
R974W |
probably damaging |
Het |
| Col4a2 |
A |
C |
8: 11,498,167 (GRCm39) |
T1659P |
possibly damaging |
Het |
| Coq9 |
C |
T |
8: 95,578,530 (GRCm39) |
L215F |
possibly damaging |
Het |
| Cped1 |
A |
G |
6: 22,122,426 (GRCm39) |
|
probably benign |
Het |
| Elapor2 |
A |
T |
5: 9,430,282 (GRCm39) |
D64V |
probably damaging |
Het |
| Gga3 |
T |
A |
11: 115,482,567 (GRCm39) |
R105W |
probably damaging |
Het |
| Hmcn1 |
C |
T |
1: 150,514,620 (GRCm39) |
R3584Q |
probably benign |
Het |
| Hs6st3 |
T |
A |
14: 119,376,446 (GRCm39) |
L207Q |
probably damaging |
Het |
| Ift43 |
A |
G |
12: 86,208,807 (GRCm39) |
E141G |
probably damaging |
Het |
| Mrps31 |
T |
G |
8: 22,917,841 (GRCm39) |
F287V |
probably damaging |
Het |
| Naca |
A |
G |
10: 127,877,551 (GRCm39) |
|
probably benign |
Het |
| Nrf1 |
C |
T |
6: 30,098,477 (GRCm39) |
T135M |
probably damaging |
Het |
| Or5p81 |
A |
G |
7: 108,266,907 (GRCm39) |
I95V |
possibly damaging |
Het |
| Pfas |
A |
T |
11: 68,894,640 (GRCm39) |
Y8* |
probably null |
Het |
| Ppip5k1 |
G |
A |
2: 121,177,839 (GRCm39) |
R323W |
probably damaging |
Het |
| Rasal1 |
A |
G |
5: 120,802,872 (GRCm39) |
E376G |
probably damaging |
Het |
| Rfc1 |
A |
G |
5: 65,437,042 (GRCm39) |
L546P |
probably benign |
Het |
| Rheb |
A |
T |
5: 25,012,073 (GRCm39) |
I129N |
probably damaging |
Het |
| Scpep1 |
A |
T |
11: 88,843,303 (GRCm39) |
F52I |
probably damaging |
Het |
| Six2 |
A |
T |
17: 85,995,319 (GRCm39) |
L21Q |
probably damaging |
Het |
| Slit1 |
G |
T |
19: 41,590,694 (GRCm39) |
T1326K |
possibly damaging |
Het |
| Spata2l |
T |
C |
8: 123,960,716 (GRCm39) |
D191G |
possibly damaging |
Het |
| Susd4 |
C |
A |
1: 182,719,552 (GRCm39) |
A389D |
probably damaging |
Het |
| Tcaf2 |
A |
T |
6: 42,601,510 (GRCm39) |
F850I |
probably damaging |
Het |
| Teddm1b |
T |
C |
1: 153,750,391 (GRCm39) |
S67P |
probably damaging |
Het |
| Tiparp |
T |
A |
3: 65,439,530 (GRCm39) |
V100D |
probably damaging |
Het |
| Zdhhc14 |
A |
G |
17: 5,803,067 (GRCm39) |
H390R |
probably benign |
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 |
|
|
IGL00473:Arcn1
|
APN |
9 |
44,668,444 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
2013-04-17 |
Incidental Mutation