Incidental Mutation 'R4224:Ica1'
| ID |
319956 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ica1
|
| Ensembl Gene |
ENSMUSG00000062995 |
| Gene Name |
islet cell autoantigen 1 |
| Synonyms |
ICA69, 69kDa |
| MMRRC Submission |
041044-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.173)
|
| Stock # |
R4224 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
8630527-8778488 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 8659960 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 112
(K112R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116861
(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 |
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: ENSMUST00000126430
AA Change: K112R
PolyPhen 2
Score 0.108 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000116861
Gene: ENSMUSG00000062995
AA Change: K112R
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 96.0%
|
| Validation Efficiency |
95% (42/44) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9330182O14Rik |
T |
C |
15: 40,005,672 (GRCm39) |
|
probably null |
Het |
| Abl2 |
A |
G |
1: 156,461,417 (GRCm39) |
T440A |
probably damaging |
Het |
| Acat2 |
T |
C |
17: 13,181,772 (GRCm39) |
|
probably benign |
Het |
| Acsbg1 |
C |
T |
9: 54,523,325 (GRCm39) |
R434H |
possibly damaging |
Het |
| Aif1l |
A |
T |
2: 31,852,251 (GRCm39) |
S40C |
probably damaging |
Het |
| Atosa |
T |
A |
9: 74,916,008 (GRCm39) |
N209K |
probably damaging |
Het |
| Atp6v1a |
C |
A |
16: 43,922,174 (GRCm39) |
A355S |
probably damaging |
Het |
| Corin |
T |
C |
5: 72,500,451 (GRCm39) |
E391G |
probably damaging |
Het |
| Dnah11 |
T |
G |
12: 118,094,627 (GRCm39) |
S814R |
probably benign |
Het |
| Fer1l4 |
A |
C |
2: 155,862,309 (GRCm39) |
V1788G |
probably benign |
Het |
| Gm7964 |
T |
G |
7: 83,406,030 (GRCm39) |
N281K |
probably damaging |
Het |
| Grin1 |
T |
C |
2: 25,187,332 (GRCm39) |
|
probably benign |
Het |
| Itpr3 |
T |
C |
17: 27,326,232 (GRCm39) |
V1334A |
probably damaging |
Het |
| Khdc3 |
C |
G |
9: 73,010,153 (GRCm39) |
H70D |
possibly damaging |
Het |
| Lama3 |
T |
C |
18: 12,583,460 (GRCm39) |
C683R |
probably damaging |
Het |
| Mettl21a |
G |
T |
1: 64,647,115 (GRCm39) |
Y147* |
probably null |
Het |
| Mr1 |
A |
T |
1: 155,006,465 (GRCm39) |
I294N |
possibly damaging |
Het |
| Or52z12 |
A |
G |
7: 103,233,966 (GRCm39) |
T246A |
probably damaging |
Het |
| Or7e170 |
T |
A |
9: 19,794,896 (GRCm39) |
Y235F |
probably benign |
Het |
| Pals1 |
A |
G |
12: 78,876,492 (GRCm39) |
K479E |
probably damaging |
Het |
| Pcdhgb7 |
T |
A |
18: 37,886,856 (GRCm39) |
D675E |
probably benign |
Het |
| Polr1has |
T |
C |
17: 37,269,617 (GRCm39) |
|
probably benign |
Het |
| Ptbp1 |
T |
C |
10: 79,695,047 (GRCm39) |
I125T |
probably benign |
Het |
| Rnf213 |
C |
T |
11: 119,327,649 (GRCm39) |
R1879* |
probably null |
Het |
| Slc8a1 |
A |
G |
17: 81,956,781 (GRCm39) |
F86L |
probably damaging |
Het |
| Spdya |
G |
A |
17: 71,869,519 (GRCm39) |
V105I |
probably benign |
Het |
| Sspo |
G |
T |
6: 48,428,091 (GRCm39) |
V313L |
possibly damaging |
Het |
| Stard9 |
A |
G |
2: 120,495,472 (GRCm39) |
T116A |
possibly damaging |
Het |
| Tnnt1 |
T |
C |
7: 4,513,006 (GRCm39) |
H92R |
probably damaging |
Het |
| Trim37 |
T |
A |
11: 87,107,289 (GRCm39) |
C907S |
probably damaging |
Het |
| Trim43b |
T |
A |
9: 88,972,692 (GRCm39) |
Q154L |
probably benign |
Het |
| Tssk3 |
T |
C |
4: 129,384,392 (GRCm39) |
D3G |
probably benign |
Het |
| Ubash3a |
T |
C |
17: 31,456,902 (GRCm39) |
Y521H |
probably damaging |
Het |
| Vmn1r73 |
T |
C |
7: 11,490,506 (GRCm39) |
I108T |
probably damaging |
Het |
| Vmn2r14 |
A |
G |
5: 109,364,149 (GRCm39) |
M589T |
probably benign |
Het |
| Vmn2r60 |
A |
T |
7: 41,765,952 (GRCm39) |
T20S |
probably benign |
Het |
| Vps13b |
A |
G |
15: 35,876,565 (GRCm39) |
T2799A |
probably damaging |
Het |
| Zcchc18 |
A |
T |
X: 135,895,415 (GRCm39) |
N10I |
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 |
|
|
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'- AGCTCTCTATTCAGCTGGAGC -3'
(R):5'- TGCTGTACAGGCAGACTTTATG -3'
Sequencing Primer
(F):5'- AGCTGCCTCCTCAGGGTC -3'
(R):5'- TTGCTGGCGAACTTCACAAG -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation