Incidental Mutation 'R6033:Ica1'
| ID |
486378 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ica1
|
| Ensembl Gene |
ENSMUSG00000062995 |
| Gene Name |
islet cell autoantigen 1 |
| Synonyms |
ICA69, 69kDa |
| MMRRC Submission |
044205-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.173)
|
| Stock # |
R6033 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
8630527-8778488 bp(-) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
T to A
at 8630799 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111182
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038403]
[ENSMUST00000115519]
[ENSMUST00000115519]
[ENSMUST00000115520]
[ENSMUST00000115520]
[ENSMUST00000156695]
|
| AlphaFold |
P97411 |
| Predicted Effect |
probably null
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 null
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 null
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 null
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 null
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 |
noncoding transcript
Transcript: ENSMUST00000145870
|
| 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 |
0.9494 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 96.0%
|
| Validation Efficiency |
100% (55/55) |
| 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 |
|---|
| Adgrl1 |
T |
A |
8: 84,645,551 (GRCm39) |
V58E |
probably damaging |
Het |
| Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
| Alas1 |
A |
G |
9: 106,118,403 (GRCm39) |
S240P |
probably damaging |
Het |
| Alox12e |
C |
T |
11: 70,206,839 (GRCm39) |
G616D |
probably benign |
Het |
| Ash1l |
T |
C |
3: 88,892,326 (GRCm39) |
Y1402H |
probably damaging |
Het |
| Ccdc150 |
G |
T |
1: 54,324,787 (GRCm39) |
|
probably null |
Het |
| Chct1 |
A |
G |
11: 85,069,198 (GRCm39) |
E72G |
probably damaging |
Het |
| Cmtm8 |
T |
C |
9: 114,625,141 (GRCm39) |
T97A |
probably damaging |
Het |
| Cnmd |
T |
C |
14: 79,898,945 (GRCm39) |
S36G |
probably benign |
Het |
| Dnah3 |
A |
C |
7: 119,670,870 (GRCm39) |
N609K |
probably benign |
Het |
| Dph1 |
C |
T |
11: 75,082,023 (GRCm39) |
|
probably benign |
Het |
| Drosha |
G |
A |
15: 12,926,085 (GRCm39) |
A1225T |
probably benign |
Het |
| Eid3 |
T |
A |
10: 82,703,487 (GRCm39) |
I316K |
probably damaging |
Het |
| Erich6 |
A |
G |
3: 58,530,622 (GRCm39) |
L449S |
probably benign |
Het |
| Fhod1 |
T |
C |
8: 106,063,066 (GRCm39) |
|
probably benign |
Het |
| Glra1 |
A |
G |
11: 55,418,245 (GRCm39) |
Y250H |
probably damaging |
Het |
| Gm21972 |
T |
C |
1: 86,064,817 (GRCm39) |
Y950H |
probably damaging |
Het |
| Gm6712 |
T |
A |
17: 17,514,678 (GRCm39) |
|
noncoding transcript |
Het |
| Grb7 |
C |
T |
11: 98,346,023 (GRCm39) |
|
probably null |
Het |
| Hivep1 |
A |
G |
13: 42,310,583 (GRCm39) |
E941G |
probably benign |
Het |
| Homer2 |
A |
C |
7: 81,268,427 (GRCm39) |
S78A |
possibly damaging |
Het |
| Ifna12 |
T |
C |
4: 88,521,154 (GRCm39) |
E131G |
possibly damaging |
Het |
| Igbp1b |
T |
C |
6: 138,635,207 (GRCm39) |
Y79C |
probably damaging |
Het |
| Incenp |
C |
T |
19: 9,850,061 (GRCm39) |
V871I |
probably damaging |
Het |
| Jaml |
G |
A |
9: 45,000,008 (GRCm39) |
G60D |
probably damaging |
Het |
| Kcp |
C |
T |
6: 29,493,193 (GRCm39) |
C110Y |
probably damaging |
Het |
| Manba |
T |
C |
3: 135,255,022 (GRCm39) |
V460A |
probably benign |
Het |
| Myrfl |
A |
T |
10: 116,685,006 (GRCm39) |
C125S |
probably benign |
Het |
| Ncan |
T |
C |
8: 70,565,240 (GRCm39) |
D229G |
probably damaging |
Het |
| Ncoa4-ps |
A |
G |
12: 119,225,475 (GRCm39) |
|
noncoding transcript |
Het |
| Nlrp10 |
A |
T |
7: 108,523,784 (GRCm39) |
D565E |
probably benign |
Het |
| Npas2 |
T |
C |
1: 39,377,261 (GRCm39) |
V541A |
probably damaging |
Het |
| Nsg2 |
G |
A |
11: 32,005,058 (GRCm39) |
V87M |
possibly damaging |
Het |
| Or5al6 |
A |
T |
2: 85,976,613 (GRCm39) |
V155E |
probably damaging |
Het |
| Prkd2 |
C |
T |
7: 16,599,639 (GRCm39) |
R701C |
probably damaging |
Het |
| Prr3 |
A |
T |
17: 36,289,516 (GRCm39) |
|
probably null |
Het |
| Prr5 |
A |
G |
15: 84,626,126 (GRCm39) |
E67G |
probably damaging |
Het |
| Prss36 |
T |
C |
7: 127,533,739 (GRCm39) |
R22G |
probably benign |
Het |
| Slc45a4 |
G |
A |
15: 73,453,825 (GRCm39) |
A716V |
probably damaging |
Het |
| Slc46a1 |
T |
C |
11: 78,356,833 (GRCm39) |
|
probably null |
Het |
| Slc6a5 |
T |
C |
7: 49,609,099 (GRCm39) |
I768T |
probably benign |
Het |
| Slco6c1 |
C |
T |
1: 97,009,041 (GRCm39) |
|
probably null |
Het |
| Taar2 |
A |
T |
10: 23,816,874 (GRCm39) |
H138L |
probably benign |
Het |
| Taf2 |
A |
C |
15: 54,922,297 (GRCm39) |
L330R |
probably damaging |
Het |
| Tgm5 |
T |
C |
2: 120,901,210 (GRCm39) |
|
probably null |
Het |
| Tmed4 |
A |
T |
11: 6,224,491 (GRCm39) |
Y56* |
probably null |
Het |
| Tmem156 |
A |
T |
5: 65,232,964 (GRCm39) |
F135L |
probably benign |
Het |
| Ttll6 |
T |
C |
11: 96,025,713 (GRCm39) |
S65P |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,557,171 (GRCm39) |
G28199R |
probably damaging |
Het |
| Ubn2 |
T |
A |
6: 38,447,159 (GRCm39) |
|
probably null |
Het |
| Unc80 |
A |
T |
1: 66,512,419 (GRCm39) |
T110S |
possibly damaging |
Het |
| Vmn2r72 |
A |
T |
7: 85,387,137 (GRCm39) |
V809E |
probably damaging |
Het |
| Zbtb2 |
A |
G |
10: 4,318,599 (GRCm39) |
F476L |
probably damaging |
Het |
| Zbtb24 |
T |
C |
10: 41,340,397 (GRCm39) |
F498L |
probably damaging |
Het |
| Zfp280d |
T |
A |
9: 72,236,419 (GRCm39) |
L494Q |
probably damaging |
Het |
| Zfp281 |
T |
C |
1: 136,554,464 (GRCm39) |
S481P |
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 |
|
|
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 |
|
|
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'- TAGACTTCTGCAAGCCCTGG -3'
(R):5'- CAGCATGTGCCGTTTTGAGTAC -3'
Sequencing Primer
(F):5'- ACTTCTGCAAGCCCTGGATGAG -3'
(R):5'- AGTACCTCTGTGAGCTGTAGCC -3'
|
| Posted On |
2017-08-16 |
Incidental Mutation