Incidental Mutation 'IGL00895:Ica1'
| ID |
27574 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ica1
|
| Ensembl Gene |
ENSMUSG00000062995 |
| Gene Name |
islet cell autoantigen 1 |
| Synonyms |
ICA69, 69kDa |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.183)
|
| Stock # |
IGL00895
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
8630527-8778488 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 8653514 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 343
(D343G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111182
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038403]
[ENSMUST00000115519]
[ENSMUST00000115520]
[ENSMUST00000153390]
[ENSMUST00000156695]
|
| AlphaFold |
P97411 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038403
AA Change: D343G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000040062
Gene: ENSMUSG00000062995
AA Change: D343G
| Domain | Start | End | E-Value | Type |
|---|
|
Arfaptin
|
21 |
248 |
1.54e-125 |
SMART |
|
ICA69
|
260 |
478 |
1.25e-93 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115519
|
| SMART Domains |
Protein: ENSMUSP00000111181
Gene: ENSMUSG00000062995
| Domain | Start | End | E-Value | Type |
|---|
|
Arfaptin
|
21 |
248 |
1.54e-125 |
SMART |
|
ICA69
|
260 |
465 |
4.01e-83 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115520
AA Change: D343G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000111182
Gene: ENSMUSG00000062995
AA Change: D343G
| Domain | Start | End | E-Value | Type |
|---|
|
Arfaptin
|
21 |
248 |
1.54e-125 |
SMART |
|
ICA69
|
260 |
478 |
1.25e-93 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153390
|
| SMART Domains |
Protein: ENSMUSP00000117734
Gene: ENSMUSG00000062995
| Domain | Start | End | E-Value | Type |
|---|
|
Arfaptin
|
21 |
248 |
1.54e-125 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156695
|
| SMART Domains |
Protein: ENSMUSP00000138459
Gene: ENSMUSG00000062995
| Domain | Start | End | E-Value | Type |
|---|
|
Arfaptin
|
21 |
248 |
1.54e-125 |
SMART |
|
Pfam:ICA69
|
260 |
301 |
4.1e-12 |
PFAM |
|
| 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 encodes a protein with an arfaptin homology domain that is found both in the cytosol and as membrane-bound form on the Golgi complex and immature secretory granules. This protein is believed to be an autoantigen in insulin-dependent diabetes mellitus and primary Sjogren's syndrome. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Feb 2013]
PHENOTYPE: Homozygous mutation of this gene results in diabetes and spontaneous lethality at 4-5 months of age on a NOD background, however mice on a 129/Sv background are normal. Onset of diabetes starts 4 weeks later than wild-type NOD mice and mutants are resistant to cyclophospamide-accelerated diabetes. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arl6ip6 |
T |
A |
2: 53,092,936 (GRCm39) |
W154R |
probably damaging |
Het |
| Ccnc |
T |
A |
4: 21,742,642 (GRCm39) |
Y156* |
probably null |
Het |
| Clca3a1 |
A |
C |
3: 144,730,357 (GRCm39) |
W163G |
probably damaging |
Het |
| Cntnap5b |
C |
T |
1: 100,311,310 (GRCm39) |
T972I |
probably damaging |
Het |
| Cpn2 |
C |
T |
16: 30,079,338 (GRCm39) |
S121N |
probably benign |
Het |
| Dcc |
T |
C |
18: 71,943,871 (GRCm39) |
E260G |
probably damaging |
Het |
| Dnah6 |
A |
T |
6: 73,133,333 (GRCm39) |
N1091K |
possibly damaging |
Het |
| Dpp9 |
G |
T |
17: 56,512,240 (GRCm39) |
F249L |
probably damaging |
Het |
| Dscaml1 |
A |
G |
9: 45,662,551 (GRCm39) |
D1839G |
probably damaging |
Het |
| Esr1 |
C |
T |
10: 4,997,890 (GRCm38) |
R481L |
probably benign |
Het |
| Frem2 |
G |
T |
3: 53,493,016 (GRCm39) |
D1833E |
probably damaging |
Het |
| Ftdc2 |
A |
T |
16: 58,458,059 (GRCm39) |
Y81N |
probably benign |
Het |
| Il27 |
T |
C |
7: 126,188,555 (GRCm39) |
H206R |
probably benign |
Het |
| Med14 |
A |
G |
X: 12,547,039 (GRCm39) |
V723A |
probably damaging |
Het |
| Msh3 |
C |
A |
13: 92,481,472 (GRCm39) |
G347C |
probably damaging |
Het |
| Nfasc |
T |
A |
1: 132,501,536 (GRCm39) |
K1262* |
probably null |
Het |
| Nlrp9a |
A |
T |
7: 26,258,103 (GRCm39) |
M485L |
probably benign |
Het |
| Or4c111 |
A |
G |
2: 88,843,953 (GRCm39) |
F152L |
probably benign |
Het |
| Or4f60 |
A |
G |
2: 111,902,100 (GRCm39) |
V276A |
probably damaging |
Het |
| Pcdhb5 |
T |
G |
18: 37,454,036 (GRCm39) |
L139V |
probably benign |
Het |
| Rbfox1 |
A |
T |
16: 7,187,698 (GRCm39) |
K43N |
probably benign |
Het |
| Scn5a |
G |
T |
9: 119,342,170 (GRCm39) |
|
probably null |
Het |
| Senp7 |
G |
T |
16: 55,902,740 (GRCm39) |
R21L |
probably damaging |
Het |
| Ssb |
G |
A |
2: 69,696,606 (GRCm39) |
V47I |
probably benign |
Het |
| Ttll8 |
T |
A |
15: 88,817,731 (GRCm39) |
S221C |
probably damaging |
Het |
|
| Other mutations in Ica1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02248:Ica1
|
APN |
6 |
8,758,387 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL02547:Ica1
|
APN |
6 |
8,670,691 (GRCm39) |
splice site |
probably null |
|
|
round_heels
|
UTSW |
6 |
8,630,799 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0099:Ica1
|
UTSW |
6 |
8,749,778 (GRCm39) |
splice site |
probably benign |
|
|
R0244:Ica1
|
UTSW |
6 |
8,653,632 (GRCm39) |
nonsense |
probably null |
|
|
R0479:Ica1
|
UTSW |
6 |
8,754,683 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0479:Ica1
|
UTSW |
6 |
8,754,627 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0628:Ica1
|
UTSW |
6 |
8,644,256 (GRCm39) |
splice site |
probably benign |
|
|
R0826:Ica1
|
UTSW |
6 |
8,667,375 (GRCm39) |
intron |
probably benign |
|
|
R1186:Ica1
|
UTSW |
6 |
8,672,326 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1384:Ica1
|
UTSW |
6 |
8,742,262 (GRCm39) |
nonsense |
probably null |
|
|
R1957:Ica1
|
UTSW |
6 |
8,749,736 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R2431:Ica1
|
UTSW |
6 |
8,658,265 (GRCm39) |
missense |
probably benign |
|
|
R3722:Ica1
|
UTSW |
6 |
8,659,021 (GRCm39) |
intron |
probably benign |
|
|
R4224:Ica1
|
UTSW |
6 |
8,659,960 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4777:Ica1
|
UTSW |
6 |
8,644,145 (GRCm39) |
missense |
probably benign |
|
|
R5633:Ica1
|
UTSW |
6 |
8,667,257 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R5786:Ica1
|
UTSW |
6 |
8,672,391 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R6033:Ica1
|
UTSW |
6 |
8,630,799 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6033:Ica1
|
UTSW |
6 |
8,630,799 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6053:Ica1
|
UTSW |
6 |
8,630,783 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6221:Ica1
|
UTSW |
6 |
8,644,181 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6794:Ica1
|
UTSW |
6 |
8,653,659 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6819:Ica1
|
UTSW |
6 |
8,742,288 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7201:Ica1
|
UTSW |
6 |
8,644,015 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7574:Ica1
|
UTSW |
6 |
8,658,266 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7841:Ica1
|
UTSW |
6 |
8,737,072 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7920:Ica1
|
UTSW |
6 |
8,742,274 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8017:Ica1
|
UTSW |
6 |
8,658,286 (GRCm39) |
missense |
probably benign |
|
|
R8511:Ica1
|
UTSW |
6 |
8,754,726 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9067:Ica1
|
UTSW |
6 |
8,667,362 (GRCm39) |
missense |
probably benign |
|
|
R9133:Ica1
|
UTSW |
6 |
8,659,921 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9454:Ica1
|
UTSW |
6 |
8,667,288 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2013-04-17 |
Incidental Mutation