Incidental Mutation 'IGL00895:Ica1'
ID27574
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ica1
Ensembl Gene ENSMUSG00000062995
Gene Nameislet cell autoantigen 1
SynonymsICA69, 69kDa
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.200) question?
Stock #IGL00895
Quality Score
Status
Chromosome6
Chromosomal Location8630527-8778488 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 8653514 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 343 (D343G)
Ref Sequence ENSEMBL: ENSMUSP00000111182 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038403] [ENSMUST00000115519] [ENSMUST00000115520] [ENSMUST00000153390] [ENSMUST00000156695]
Predicted Effect probably benign
Transcript: ENSMUST00000038403
AA Change: D343G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000040062
Gene: ENSMUSG00000062995
AA Change: D343G

DomainStartEndE-ValueType
Arfaptin 21 248 1.54e-125 SMART
ICA69 260 478 1.25e-93 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000115519
SMART Domains Protein: ENSMUSP00000111181
Gene: ENSMUSG00000062995

DomainStartEndE-ValueType
Arfaptin 21 248 1.54e-125 SMART
ICA69 260 465 4.01e-83 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000115520
AA Change: D343G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000111182
Gene: ENSMUSG00000062995
AA Change: D343G

DomainStartEndE-ValueType
Arfaptin 21 248 1.54e-125 SMART
ICA69 260 478 1.25e-93 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000153390
SMART Domains Protein: ENSMUSP00000117734
Gene: ENSMUSG00000062995

DomainStartEndE-ValueType
Arfaptin 21 248 1.54e-125 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000156695
SMART Domains Protein: ENSMUSP00000138459
Gene: ENSMUSG00000062995

DomainStartEndE-ValueType
Arfaptin 21 248 1.54e-125 SMART
Pfam:ICA69 260 301 4.1e-12 PFAM
Coding Region Coverage
Validation Efficiency
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arl6ip6 T A 2: 53,202,924 W154R probably damaging Het
Ccnc T A 4: 21,742,642 Y156* probably null Het
Clca1 A C 3: 145,024,596 W163G probably damaging Het
Cntnap5b C T 1: 100,383,585 T972I probably damaging Het
Cpn2 C T 16: 30,260,520 S121N probably benign Het
Dcc T C 18: 71,810,800 E260G probably damaging Het
Dnah6 A T 6: 73,156,350 N1091K possibly damaging Het
Dpp9 G T 17: 56,205,240 F249L probably damaging Het
Dscaml1 A G 9: 45,751,253 D1839G probably damaging Het
E330017A01Rik A T 16: 58,637,696 Y81N probably benign Het
Esr1 C T 10: 4,997,890 R481L probably benign Het
Frem2 G T 3: 53,585,595 D1833E probably damaging Het
Il27 T C 7: 126,589,383 H206R probably benign Het
Med14 A G X: 12,680,800 V723A probably damaging Het
Msh3 C A 13: 92,344,964 G347C probably damaging Het
Nfasc T A 1: 132,573,798 K1262* probably null Het
Nlrp9a A T 7: 26,558,678 M485L probably benign Het
Olfr1216 A G 2: 89,013,609 F152L probably benign Het
Olfr1313 A G 2: 112,071,755 V276A probably damaging Het
Pcdhb5 T G 18: 37,320,983 L139V probably benign Het
Rbfox1 A T 16: 7,369,834 K43N probably benign Het
Scn5a G T 9: 119,513,104 probably null Het
Senp7 G T 16: 56,082,377 R21L probably damaging Het
Ssb G A 2: 69,866,262 V47I probably benign Het
Ttll8 T A 15: 88,933,528 S221C probably damaging Het
Other mutations in Ica1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02248:Ica1 APN 6 8758387 utr 5 prime probably benign
IGL02547:Ica1 APN 6 8670691 splice site probably null
round_heels UTSW 6 8630799 critical splice acceptor site probably null
R0099:Ica1 UTSW 6 8749778 splice site probably benign
R0244:Ica1 UTSW 6 8653632 nonsense probably null
R0479:Ica1 UTSW 6 8754627 missense probably damaging 1.00
R0479:Ica1 UTSW 6 8754683 missense probably damaging 1.00
R0628:Ica1 UTSW 6 8644256 splice site probably benign
R0826:Ica1 UTSW 6 8667375 intron probably benign
R1186:Ica1 UTSW 6 8672326 missense probably damaging 1.00
R1384:Ica1 UTSW 6 8742262 nonsense probably null
R1957:Ica1 UTSW 6 8749736 missense possibly damaging 0.85
R2431:Ica1 UTSW 6 8658265 missense probably benign
R3722:Ica1 UTSW 6 8659021 intron probably benign
R4224:Ica1 UTSW 6 8659960 missense probably benign 0.11
R4777:Ica1 UTSW 6 8644145 missense probably benign
R5633:Ica1 UTSW 6 8667257 missense possibly damaging 0.73
R5786:Ica1 UTSW 6 8672391 missense possibly damaging 0.50
R6033:Ica1 UTSW 6 8630799 critical splice acceptor site probably null
R6033:Ica1 UTSW 6 8630799 critical splice acceptor site probably null
R6053:Ica1 UTSW 6 8630783 missense probably benign 0.01
R6221:Ica1 UTSW 6 8644181 missense possibly damaging 0.82
R6794:Ica1 UTSW 6 8653659 missense probably benign 0.00
R6819:Ica1 UTSW 6 8742288 missense probably damaging 0.99
Posted On2013-04-17