Incidental Mutation 'R1384:Ica1'
| ID |
163160 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ica1
|
| Ensembl Gene |
ENSMUSG00000062995 |
| Gene Name |
islet cell autoantigen 1 |
| Synonyms |
ICA69, 69kDa |
| MMRRC Submission |
039446-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.183)
|
| Stock # |
R1384 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
8630527-8778488 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 8742262 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 124
(Q124*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138459
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038403]
[ENSMUST00000115518]
[ENSMUST00000115519]
[ENSMUST00000115520]
[ENSMUST00000153390]
[ENSMUST00000156695]
|
| AlphaFold |
P97411 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000038403
AA Change: Q124*
|
| SMART Domains |
Protein: ENSMUSP00000040062
Gene: ENSMUSG00000062995
AA Change: Q124*
| 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: ENSMUST00000115518
AA Change: Q124*
|
| SMART Domains |
Protein: ENSMUSP00000111180
Gene: ENSMUSG00000062995
AA Change: Q124*
| Domain | Start | End | E-Value | Type |
|---|
|
Arfaptin
|
21 |
248 |
1.54e-125 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000115519
AA Change: Q124*
|
| SMART Domains |
Protein: ENSMUSP00000111181
Gene: ENSMUSG00000062995
AA Change: Q124*
| 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
AA Change: Q124*
|
| SMART Domains |
Protein: ENSMUSP00000111182
Gene: ENSMUSG00000062995
AA Change: Q124*
| 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: ENSMUST00000135113
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000153390
AA Change: Q124*
|
| SMART Domains |
Protein: ENSMUSP00000117734
Gene: ENSMUSG00000062995
AA Change: Q124*
| Domain | Start | End | E-Value | Type |
|---|
|
Arfaptin
|
21 |
248 |
1.54e-125 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000156695
AA Change: Q124*
|
| SMART Domains |
Protein: ENSMUSP00000138459
Gene: ENSMUSG00000062995
AA Change: Q124*
| 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 |
0.9755 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.8%
- 20x: 91.1%
|
| Validation Efficiency |
96% (54/56) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930408O17Rik |
G |
A |
12: 104,837,451 (GRCm39) |
|
noncoding transcript |
Het |
| A930033H14Rik |
A |
G |
10: 69,048,191 (GRCm39) |
|
probably benign |
Het |
| Abcf3 |
G |
A |
16: 20,378,053 (GRCm39) |
G522R |
probably damaging |
Het |
| Abi3bp |
A |
G |
16: 56,394,862 (GRCm39) |
Y190C |
probably damaging |
Het |
| Alg10b |
A |
G |
15: 90,111,785 (GRCm39) |
K210E |
possibly damaging |
Het |
| Amph |
G |
A |
13: 19,326,198 (GRCm39) |
V643M |
probably damaging |
Het |
| C9 |
G |
A |
15: 6,488,415 (GRCm39) |
V90I |
probably benign |
Het |
| Cacna1s |
A |
G |
1: 136,022,709 (GRCm39) |
I634V |
probably benign |
Het |
| Catip |
A |
G |
1: 74,403,522 (GRCm39) |
D153G |
probably benign |
Het |
| Cpt1c |
G |
A |
7: 44,610,348 (GRCm39) |
|
probably benign |
Het |
| Cyp2c23 |
A |
G |
19: 44,002,102 (GRCm39) |
S296P |
probably damaging |
Het |
| Cyp2d41-ps |
G |
A |
15: 82,663,718 (GRCm39) |
|
noncoding transcript |
Het |
| Edc4 |
T |
A |
8: 106,619,014 (GRCm39) |
I1327N |
probably damaging |
Het |
| Fbxl18 |
G |
A |
5: 142,871,978 (GRCm39) |
A419V |
probably damaging |
Het |
| Filip1l |
A |
G |
16: 57,391,652 (GRCm39) |
K509E |
possibly damaging |
Het |
| Golga4 |
A |
G |
9: 118,394,719 (GRCm39) |
E96G |
probably damaging |
Het |
| Grid2ip |
T |
G |
5: 143,371,851 (GRCm39) |
|
probably null |
Het |
| Gucy1a2 |
A |
C |
9: 3,759,620 (GRCm39) |
E475D |
probably damaging |
Het |
| Hipk1 |
A |
G |
3: 103,666,090 (GRCm39) |
|
probably benign |
Het |
| Igsf3 |
T |
C |
3: 101,358,612 (GRCm39) |
|
probably null |
Het |
| Matn2 |
A |
G |
15: 34,409,956 (GRCm39) |
E462G |
probably benign |
Het |
| Men1 |
T |
C |
19: 6,389,921 (GRCm39) |
S464P |
probably benign |
Het |
| Mrgpra2b |
T |
A |
7: 47,113,742 (GRCm39) |
E330V |
probably damaging |
Het |
| Myoz2 |
A |
T |
3: 122,819,765 (GRCm39) |
S65T |
probably damaging |
Het |
| Nckap1 |
A |
G |
2: 80,364,014 (GRCm39) |
M492T |
possibly damaging |
Het |
| Nhsl1 |
A |
T |
10: 18,284,261 (GRCm39) |
K67N |
probably null |
Het |
| Nostrin |
A |
G |
2: 69,019,406 (GRCm39) |
R484G |
probably benign |
Het |
| Or8g22 |
T |
A |
9: 38,958,200 (GRCm39) |
I172F |
possibly damaging |
Het |
| Otog |
T |
A |
7: 45,923,119 (GRCm39) |
|
probably benign |
Het |
| P2rx5 |
A |
G |
11: 73,058,716 (GRCm39) |
Y300C |
probably damaging |
Het |
| Pars2 |
T |
C |
4: 106,510,913 (GRCm39) |
F232L |
possibly damaging |
Het |
| Pi4ka |
A |
G |
16: 17,115,401 (GRCm39) |
|
probably benign |
Het |
| Pld3 |
A |
G |
7: 27,237,082 (GRCm39) |
S266P |
probably benign |
Het |
| Pole |
G |
A |
5: 110,471,530 (GRCm39) |
V1425M |
possibly damaging |
Het |
| Prss43 |
A |
G |
9: 110,656,510 (GRCm39) |
I66V |
probably benign |
Het |
| Rtn4 |
A |
T |
11: 29,686,437 (GRCm39) |
N264I |
probably damaging |
Het |
| Slc45a2 |
A |
G |
15: 11,025,832 (GRCm39) |
Y394C |
probably benign |
Het |
| Speer4f2 |
A |
T |
5: 17,579,447 (GRCm39) |
N82I |
probably damaging |
Het |
| Stard9 |
C |
A |
2: 120,504,117 (GRCm39) |
S221R |
probably damaging |
Het |
| Strip1 |
T |
C |
3: 107,534,155 (GRCm39) |
S160G |
probably benign |
Het |
| Tbx2 |
A |
G |
11: 85,724,318 (GRCm39) |
K129R |
probably benign |
Het |
| Tfr2 |
T |
C |
5: 137,585,082 (GRCm39) |
|
probably benign |
Het |
| Thap12 |
T |
C |
7: 98,352,645 (GRCm39) |
S17P |
probably damaging |
Het |
| Timm21 |
G |
C |
18: 84,967,387 (GRCm39) |
L130V |
probably damaging |
Het |
| Tspear |
T |
C |
10: 77,702,166 (GRCm39) |
F200L |
probably benign |
Het |
| Tspyl5 |
T |
A |
15: 33,687,526 (GRCm39) |
R140W |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,606,002 (GRCm39) |
D18236G |
probably damaging |
Het |
| Upf2 |
G |
A |
2: 5,965,800 (GRCm39) |
R140Q |
unknown |
Het |
| Vps4a |
T |
A |
8: 107,763,276 (GRCm39) |
I10N |
possibly 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 |
|
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'- TGCTGCTCTCTATATCCGAGGGAAG -3'
(R):5'- GATTACAGGGCACCAACTCACTGAC -3'
Sequencing Primer
(F):5'- TCTATATCCGAGGGAAGTGGGG -3'
(R):5'- CAACTCACTGACAGATGTGTTCG -3'
|
| Posted On |
2014-03-17 |
Incidental Mutation