Incidental Mutation 'R5633:Ica1'
| ID |
439975 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ica1
|
| Ensembl Gene |
ENSMUSG00000062995 |
| Gene Name |
islet cell autoantigen 1 |
| Synonyms |
ICA69, 69kDa |
| MMRRC Submission |
043284-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.173)
|
| Stock # |
R5633 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
8630527-8778488 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 8667257 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 303
(I303N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111180
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038403]
[ENSMUST00000115518]
[ENSMUST00000115519]
[ENSMUST00000115520]
[ENSMUST00000126430]
[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 |
possibly damaging
Transcript: ENSMUST00000115518
AA Change: I303N
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000111180
Gene: ENSMUSG00000062995
AA Change: I303N
| 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: ENSMUST00000126430
|
| SMART Domains |
Protein: ENSMUSP00000116861
Gene: ENSMUSG00000062995
| Domain | Start | End | E-Value | Type |
|---|
|
Arfaptin
|
1 |
83 |
3.3e-6 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127398
|
| SMART Domains |
Protein: ENSMUSP00000118194
Gene: ENSMUSG00000062995
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:Arfaptin
|
7 |
40 |
2e-12 |
BLAST |
|
| 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 |
0.1795 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.0%
|
| Validation Efficiency |
98% (55/56) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4 |
T |
A |
4: 144,344,598 (GRCm39) |
C125S |
probably benign |
Het |
| Abcb8 |
T |
C |
5: 24,608,107 (GRCm39) |
L382P |
probably damaging |
Het |
| Acot3 |
A |
G |
12: 84,105,724 (GRCm39) |
|
probably null |
Het |
| Acsl6 |
A |
T |
11: 54,228,015 (GRCm39) |
Q345L |
probably benign |
Het |
| Adcy8 |
A |
G |
15: 64,571,134 (GRCm39) |
S1170P |
probably damaging |
Het |
| Ankrd28 |
T |
G |
14: 31,457,022 (GRCm39) |
D182A |
probably damaging |
Het |
| B3galt5 |
A |
T |
16: 96,116,709 (GRCm39) |
H114L |
probably benign |
Het |
| Bcas2 |
T |
A |
3: 103,085,740 (GRCm39) |
Y207* |
probably null |
Het |
| Best1 |
A |
G |
19: 9,969,467 (GRCm39) |
L197P |
probably benign |
Het |
| Chil6 |
C |
A |
3: 106,296,068 (GRCm39) |
C389F |
probably damaging |
Het |
| Chrna4 |
T |
C |
2: 180,671,253 (GRCm39) |
T168A |
probably damaging |
Het |
| Ckmt1 |
C |
G |
2: 121,194,110 (GRCm39) |
|
probably benign |
Het |
| Dhcr7 |
T |
C |
7: 143,401,160 (GRCm39) |
L441P |
probably damaging |
Het |
| Dmtn |
T |
C |
14: 70,842,419 (GRCm39) |
M365V |
probably benign |
Het |
| Dmxl1 |
T |
A |
18: 50,010,764 (GRCm39) |
S974T |
probably damaging |
Het |
| Dnajb13 |
T |
C |
7: 100,156,626 (GRCm39) |
D150G |
probably benign |
Het |
| Eef2k |
C |
A |
7: 120,472,513 (GRCm39) |
|
probably benign |
Het |
| Elp2 |
T |
A |
18: 24,748,267 (GRCm39) |
V213E |
probably damaging |
Het |
| Fbxo43 |
A |
T |
15: 36,162,241 (GRCm39) |
|
probably null |
Het |
| Gm11559 |
C |
A |
11: 99,755,412 (GRCm39) |
C20* |
probably null |
Het |
| Gnb2 |
T |
C |
5: 137,527,454 (GRCm39) |
I213V |
probably benign |
Het |
| Gnb5 |
C |
T |
9: 75,251,796 (GRCm39) |
T306I |
probably damaging |
Het |
| Idh1 |
A |
G |
1: 65,204,295 (GRCm39) |
Y272H |
probably damaging |
Het |
| Ikzf2 |
G |
A |
1: 69,578,256 (GRCm39) |
Q273* |
probably null |
Het |
| Itpkb |
A |
T |
1: 180,154,790 (GRCm39) |
⇒1 |
probably benign |
Het |
| Kntc1 |
C |
T |
5: 123,957,120 (GRCm39) |
T2143I |
probably damaging |
Het |
| Lin9 |
T |
A |
1: 180,496,763 (GRCm39) |
L351I |
probably benign |
Het |
| Lmbrd1 |
C |
A |
1: 24,787,943 (GRCm39) |
D464E |
possibly damaging |
Het |
| Med13 |
A |
G |
11: 86,169,757 (GRCm39) |
|
probably benign |
Het |
| Mn1 |
T |
C |
5: 111,568,192 (GRCm39) |
F721L |
possibly damaging |
Het |
| Myo9a |
T |
A |
9: 59,775,467 (GRCm39) |
L1026Q |
possibly damaging |
Het |
| Or6c204 |
A |
T |
10: 129,022,718 (GRCm39) |
F191I |
probably benign |
Het |
| P4htm |
A |
C |
9: 108,456,922 (GRCm39) |
D428E |
probably damaging |
Het |
| Parp8 |
C |
T |
13: 117,013,116 (GRCm39) |
R602H |
probably damaging |
Het |
| Pkd2 |
T |
A |
5: 104,646,372 (GRCm39) |
S726R |
probably damaging |
Het |
| Pla2g6 |
A |
T |
15: 79,183,342 (GRCm39) |
I495N |
possibly damaging |
Het |
| Psmd5 |
A |
G |
2: 34,746,500 (GRCm39) |
I359T |
probably benign |
Het |
| Rassf6 |
T |
C |
5: 90,751,977 (GRCm39) |
H292R |
possibly damaging |
Het |
| Rnf145 |
T |
C |
11: 44,450,915 (GRCm39) |
I413T |
probably damaging |
Het |
| Rpn2 |
T |
A |
2: 157,125,516 (GRCm39) |
V9D |
possibly damaging |
Het |
| Rpp30 |
T |
C |
19: 36,064,390 (GRCm39) |
L57P |
probably damaging |
Het |
| Slc41a1 |
A |
G |
1: 131,774,325 (GRCm39) |
H464R |
possibly damaging |
Het |
| Slc47a1 |
G |
T |
11: 61,260,087 (GRCm39) |
P163Q |
probably damaging |
Het |
| Smc4 |
T |
A |
3: 68,915,443 (GRCm39) |
I165K |
probably damaging |
Het |
| Stra6l |
T |
A |
4: 45,881,455 (GRCm39) |
I439K |
probably benign |
Het |
| Syt9 |
C |
T |
7: 107,024,503 (GRCm39) |
T132I |
probably damaging |
Het |
| Timd6 |
C |
T |
11: 46,465,433 (GRCm39) |
S9L |
unknown |
Het |
| Trpm2 |
T |
C |
10: 77,774,187 (GRCm39) |
I471V |
possibly damaging |
Het |
| Uap1l1 |
A |
G |
2: 25,253,361 (GRCm39) |
M358T |
probably benign |
Het |
| Vmn1r91 |
A |
T |
7: 19,835,870 (GRCm39) |
H263L |
possibly damaging |
Het |
| Zfp407 |
T |
C |
18: 84,579,169 (GRCm39) |
D648G |
probably benign |
Het |
| Zpbp2 |
T |
C |
11: 98,445,584 (GRCm39) |
I150T |
probably damaging |
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 |
|
|
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 |
|
|
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'- TTCAGGTAAACTCGGTCAGCC -3'
(R):5'- TAGGAGAGAAGTGCCTGTCTTAAG -3'
Sequencing Primer
(F):5'- CCTGGTCTACAAAGTGAGTTCCAG -3'
(R):5'- AGAAGTGCCTGTCTTAAGTTTTCAGC -3'
|
| Posted On |
2016-11-08 |
Incidental Mutation