Incidental Mutation 'IGL02640:Arcn1'
ID |
301684 |
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 # |
IGL02640
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
44653440-44679105 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 44662614 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Serine
at position 344
(I344S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000034607
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034607]
|
AlphaFold |
Q5XJY5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000034607
AA Change: I344S
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000034607 Gene: ENSMUSG00000032096 AA Change: I344S
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alkbh3 |
C |
A |
2: 93,826,706 (GRCm39) |
R165L |
possibly damaging |
Het |
Arap3 |
A |
G |
18: 38,120,855 (GRCm39) |
V730A |
possibly damaging |
Het |
Ascc3 |
A |
C |
10: 50,643,470 (GRCm39) |
D1807A |
possibly damaging |
Het |
Atp2b3 |
A |
G |
X: 72,585,811 (GRCm39) |
S615G |
probably benign |
Het |
Ccdc40 |
A |
G |
11: 119,128,904 (GRCm39) |
N450S |
probably benign |
Het |
Cep41 |
T |
C |
6: 30,658,867 (GRCm39) |
E160G |
probably benign |
Het |
Cxxc1 |
T |
C |
18: 74,354,254 (GRCm39) |
L654P |
probably damaging |
Het |
Dusp29 |
T |
A |
14: 21,753,123 (GRCm39) |
T8S |
probably damaging |
Het |
Gnb4 |
C |
T |
3: 32,645,374 (GRCm39) |
A106T |
probably benign |
Het |
Gosr1 |
T |
C |
11: 76,645,603 (GRCm39) |
N59S |
probably benign |
Het |
Itgav |
A |
G |
2: 83,622,283 (GRCm39) |
T622A |
probably benign |
Het |
Lamc2 |
A |
G |
1: 153,027,803 (GRCm39) |
I207T |
probably damaging |
Het |
Lce1c |
C |
A |
3: 92,587,845 (GRCm39) |
|
probably benign |
Het |
Mcm3ap |
G |
T |
10: 76,342,255 (GRCm39) |
D1583Y |
probably damaging |
Het |
Mphosph9 |
A |
T |
5: 124,453,563 (GRCm39) |
F220I |
possibly damaging |
Het |
Or14j2 |
A |
G |
17: 37,885,912 (GRCm39) |
V134A |
possibly damaging |
Het |
Or2ag16 |
A |
T |
7: 106,352,559 (GRCm39) |
F12Y |
probably damaging |
Het |
Plcb1 |
T |
G |
2: 135,062,779 (GRCm39) |
|
probably benign |
Het |
Polr3c |
G |
A |
3: 96,624,002 (GRCm39) |
T312M |
probably damaging |
Het |
Ppp4r3c2 |
T |
C |
X: 88,796,210 (GRCm39) |
V14A |
probably benign |
Het |
Ptpn12 |
G |
T |
5: 21,224,244 (GRCm39) |
D116E |
probably damaging |
Het |
Ptprb |
A |
G |
10: 116,174,569 (GRCm39) |
D747G |
probably damaging |
Het |
Scn9a |
A |
G |
2: 66,366,440 (GRCm39) |
|
probably null |
Het |
Slit3 |
T |
C |
11: 35,591,172 (GRCm39) |
V1328A |
probably benign |
Het |
Sucla2 |
C |
A |
14: 73,819,246 (GRCm39) |
S264Y |
probably benign |
Het |
Tagln3 |
T |
C |
16: 45,544,596 (GRCm39) |
D25G |
probably benign |
Het |
Tbck |
A |
G |
3: 132,480,247 (GRCm39) |
T709A |
probably benign |
Het |
Tead1 |
C |
T |
7: 112,460,663 (GRCm39) |
A189V |
probably benign |
Het |
Tmem234 |
A |
G |
4: 129,494,896 (GRCm39) |
Q46R |
probably damaging |
Het |
Trpm1 |
T |
A |
7: 63,868,881 (GRCm39) |
L395Q |
probably damaging |
Het |
Tti2 |
T |
A |
8: 31,645,942 (GRCm39) |
W419R |
probably damaging |
Het |
Vmn2r3 |
A |
T |
3: 64,194,816 (GRCm39) |
M34K |
probably benign |
Het |
Vps13c |
G |
T |
9: 67,793,530 (GRCm39) |
|
probably benign |
Het |
Zfp521 |
A |
T |
18: 13,977,987 (GRCm39) |
Y809N |
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 |
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 |
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 |
2015-04-16 |