Incidental Mutation 'R0099:Ica1'
| ID |
33147 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ica1
|
| Ensembl Gene |
ENSMUSG00000062995 |
| Gene Name |
islet cell autoantigen 1 |
| Synonyms |
ICA69, 69kDa |
| MMRRC Submission |
038385-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.183)
|
| Stock # |
R0099 (G1)
|
| Quality Score |
124 |
|
Status
|
Validated
(trace)
|
| Chromosome |
6 |
| Chromosomal Location |
8630527-8778488 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 8749778 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138459
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038403]
[ENSMUST00000115518]
[ENSMUST00000115519]
[ENSMUST00000115520]
[ENSMUST00000126039]
[ENSMUST00000151758]
[ENSMUST00000153390]
[ENSMUST00000156695]
|
| AlphaFold |
P97411 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038403
|
| SMART Domains |
Protein: ENSMUSP00000040062
Gene: ENSMUSG00000062995
| 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: ENSMUST00000115518
|
| SMART Domains |
Protein: ENSMUSP00000111180
Gene: ENSMUSG00000062995
| Domain | Start | End | E-Value | Type |
|---|
|
Arfaptin
|
21 |
248 |
1.54e-125 |
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
|
| SMART Domains |
Protein: ENSMUSP00000111182
Gene: ENSMUSG00000062995
| 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: ENSMUST00000126039
|
| SMART Domains |
Protein: ENSMUSP00000118010
Gene: ENSMUSG00000062995
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Arfaptin
|
21 |
73 |
3.6e-20 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135113
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151758
|
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.3%
|
| Validation Efficiency |
100% (65/65) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930018M24Rik |
C |
T |
14: 51,134,179 (GRCm39) |
|
probably benign |
Het |
| Aadacl2fm1 |
A |
C |
3: 59,843,856 (GRCm39) |
K183N |
probably benign |
Het |
| Acad10 |
A |
C |
5: 121,759,353 (GRCm39) |
D1043E |
probably damaging |
Het |
| Adamtsl4 |
C |
T |
3: 95,591,449 (GRCm39) |
G173R |
probably benign |
Het |
| Astn1 |
G |
T |
1: 158,329,721 (GRCm39) |
S192I |
probably damaging |
Het |
| Atg2a |
T |
A |
19: 6,302,819 (GRCm39) |
V1010E |
probably damaging |
Het |
| Col11a2 |
A |
G |
17: 34,268,648 (GRCm39) |
E311G |
probably damaging |
Het |
| Col4a3 |
A |
C |
1: 82,695,714 (GRCm39) |
E1638A |
probably benign |
Het |
| Cstf2t |
A |
G |
19: 31,061,231 (GRCm39) |
R256G |
probably benign |
Het |
| Cyp4a12a |
T |
C |
4: 115,183,869 (GRCm39) |
L225P |
probably damaging |
Het |
| Dnah5 |
G |
A |
15: 28,240,080 (GRCm39) |
R479H |
probably damaging |
Het |
| Dsg3 |
A |
G |
18: 20,673,079 (GRCm39) |
I917V |
probably benign |
Het |
| Fam76a |
G |
T |
4: 132,638,098 (GRCm39) |
|
probably benign |
Het |
| Fras1 |
T |
A |
5: 96,762,776 (GRCm39) |
|
probably null |
Het |
| Gli1 |
A |
G |
10: 127,171,875 (GRCm39) |
V293A |
probably damaging |
Het |
| Gm10782 |
T |
A |
13: 56,510,956 (GRCm39) |
|
noncoding transcript |
Het |
| Greb1l |
A |
G |
18: 10,509,158 (GRCm39) |
E490G |
probably damaging |
Het |
| Hydin |
G |
A |
8: 111,316,193 (GRCm39) |
G4362R |
probably damaging |
Het |
| Ikzf4 |
T |
A |
10: 128,470,066 (GRCm39) |
I485F |
probably damaging |
Het |
| Irf5 |
A |
G |
6: 29,533,966 (GRCm39) |
T34A |
probably damaging |
Het |
| Krt81 |
A |
T |
15: 101,361,402 (GRCm39) |
C59* |
probably null |
Het |
| Kynu |
T |
A |
2: 43,519,065 (GRCm39) |
|
probably null |
Het |
| Ly6g6c |
T |
C |
17: 35,287,891 (GRCm39) |
V61A |
probably damaging |
Het |
| Manea |
A |
C |
4: 26,328,104 (GRCm39) |
I312M |
probably damaging |
Het |
| Micall1 |
G |
T |
15: 79,016,101 (GRCm39) |
|
probably benign |
Het |
| Mthfs |
A |
T |
9: 89,108,216 (GRCm39) |
|
probably benign |
Het |
| Myh4 |
A |
G |
11: 67,150,173 (GRCm39) |
T1877A |
probably benign |
Het |
| Myo3a |
T |
C |
2: 22,250,409 (GRCm39) |
I92T |
probably benign |
Het |
| Nepn |
A |
G |
10: 52,277,181 (GRCm39) |
S306G |
probably damaging |
Het |
| Nol8 |
T |
C |
13: 49,826,165 (GRCm39) |
V995A |
probably benign |
Het |
| Or5b101 |
A |
G |
19: 13,005,165 (GRCm39) |
F176S |
probably damaging |
Het |
| Or5b105 |
T |
A |
19: 13,080,504 (GRCm39) |
T49S |
probably benign |
Het |
| Or8a1b |
A |
T |
9: 37,622,750 (GRCm39) |
V275E |
probably damaging |
Het |
| Or8g4 |
A |
G |
9: 39,661,957 (GRCm39) |
I92V |
possibly damaging |
Het |
| Pde1a |
T |
A |
2: 79,698,657 (GRCm39) |
|
probably null |
Het |
| Phf14 |
A |
G |
6: 11,987,696 (GRCm39) |
|
probably benign |
Het |
| Plekhh2 |
C |
T |
17: 84,899,100 (GRCm39) |
Q1026* |
probably null |
Het |
| Polr2b |
T |
A |
5: 77,468,797 (GRCm39) |
|
probably benign |
Het |
| Ppp1r36 |
G |
T |
12: 76,483,056 (GRCm39) |
|
probably null |
Het |
| Prdm14 |
A |
T |
1: 13,189,169 (GRCm39) |
C392S |
probably damaging |
Het |
| Rabgap1l |
A |
G |
1: 160,509,686 (GRCm39) |
S436P |
possibly damaging |
Het |
| Rfc2 |
A |
T |
5: 134,624,135 (GRCm39) |
|
probably null |
Het |
| Rfx4 |
A |
T |
10: 84,730,168 (GRCm39) |
M437L |
probably benign |
Het |
| Rgs17 |
T |
A |
10: 5,792,583 (GRCm39) |
R74S |
probably benign |
Het |
| Rnf139 |
C |
A |
15: 58,771,264 (GRCm39) |
L430I |
probably damaging |
Het |
| Sgsm1 |
C |
A |
5: 113,422,226 (GRCm39) |
|
probably benign |
Het |
| Skint6 |
T |
A |
4: 112,668,698 (GRCm39) |
T1126S |
possibly damaging |
Het |
| Slc15a2 |
T |
C |
16: 36,573,398 (GRCm39) |
E602G |
probably damaging |
Het |
| Stpg2 |
T |
C |
3: 138,948,954 (GRCm39) |
|
probably benign |
Het |
| Sycp2l |
T |
C |
13: 41,283,001 (GRCm39) |
|
probably benign |
Het |
| Tlr11 |
A |
T |
14: 50,598,275 (GRCm39) |
N87I |
probably benign |
Het |
| Tril |
A |
G |
6: 53,795,348 (GRCm39) |
F625L |
probably damaging |
Het |
| Ube3c |
T |
A |
5: 29,812,062 (GRCm39) |
V434E |
probably damaging |
Het |
| Usp34 |
G |
A |
11: 23,313,111 (GRCm39) |
G533R |
probably damaging |
Het |
| Utp25 |
A |
G |
1: 192,810,778 (GRCm39) |
L75P |
probably damaging |
Het |
| Zfp93 |
G |
T |
7: 23,974,900 (GRCm39) |
R295L |
probably benign |
Het |
|
| Other mutations in Ica1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00895:Ica1
|
APN |
6 |
8,653,514 (GRCm39) |
missense |
probably benign |
|
|
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCGAGACCTTCTTCCCACCTGAAATAG -3'
(R):5'- TGAAGGGCACTGATCATTCGCTG -3'
Sequencing Primer
(F):5'- CCTGAAATAGCAAAGATGTGTCC -3'
(R):5'- CGCTGGATGTCTCAGTACAGAG -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation