Incidental Mutation 'IGL02248:Ica1'
ID286290
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 #IGL02248
Quality Score
Status
Chromosome6
Chromosomal Location8630527-8778488 bp(-) (GRCm38)
Type of Mutationutr 5 prime
DNA Base Change (assembly) T to C at 8758387 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000138459 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038403] [ENSMUST00000115518] [ENSMUST00000115519] [ENSMUST00000115520] [ENSMUST00000126039] [ENSMUST00000151758] [ENSMUST00000153390] [ENSMUST00000156695]
Predicted Effect probably benign
Transcript: ENSMUST00000038403
SMART Domains Protein: ENSMUSP00000040062
Gene: ENSMUSG00000062995

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Arfaptin 21 248 1.54e-125 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
SMART Domains Protein: ENSMUSP00000111182
Gene: ENSMUSG00000062995

DomainStartEndE-ValueType
Arfaptin 21 248 1.54e-125 SMART
ICA69 260 478 1.25e-93 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000126039
SMART Domains Protein: ENSMUSP00000118010
Gene: ENSMUSG00000062995

DomainStartEndE-ValueType
Pfam:Arfaptin 21 73 3.6e-20 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135113
Predicted Effect probably benign
Transcript: ENSMUST00000151758
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik T C 3: 36,969,290 probably null Het
Ajap1 A T 4: 153,432,111 S258T possibly damaging Het
Ap1g1 A G 8: 109,863,433 probably benign Het
B4galnt4 T C 7: 141,067,808 probably benign Het
Btnl9 T C 11: 49,180,798 D66G probably benign Het
Casp1 T A 9: 5,299,452 H60Q probably benign Het
Clec4n T G 6: 123,230,568 S30R probably damaging Het
Col22a1 A G 15: 71,799,448 L1021P unknown Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Fbxw7 A G 3: 84,903,633 N22D possibly damaging Het
Frrs1l T A 4: 56,968,272 N167Y probably damaging Het
Fsip2 T A 2: 82,982,772 I3145K possibly damaging Het
Gcc1 G T 6: 28,418,514 R607S probably damaging Het
Gm14443 A T 2: 175,170,314 I113K probably benign Het
Igkv4-69 T A 6: 69,284,321 probably benign Het
Igkv9-120 G T 6: 68,050,237 C45F probably damaging Het
Lrp2 T C 2: 69,482,808 Y2483C probably damaging Het
Lrpprc A G 17: 84,771,467 L273S probably damaging Het
Myh9 A T 15: 77,786,614 L476Q probably damaging Het
Nab2 T C 10: 127,663,240 I390V probably benign Het
Notch4 A T 17: 34,587,198 D1756V probably damaging Het
Nup54 T C 5: 92,428,329 probably null Het
Olfr1085 A T 2: 86,657,717 V247E probably damaging Het
Olfr295 T A 7: 86,586,104 Y276* probably null Het
Reln T C 5: 21,910,992 Y3006C probably damaging Het
Rpe65 T A 3: 159,624,705 L503Q probably damaging Het
Serinc5 A G 13: 92,706,140 D366G probably damaging Het
Slain1 A G 14: 103,685,777 D102G probably damaging Het
Smo A T 6: 29,757,292 I469F possibly damaging Het
Tomm70a T A 16: 57,138,102 S273T probably benign Het
Trak1 G T 9: 121,446,794 V281L probably damaging Het
Trib2 T C 12: 15,793,966 N225S possibly damaging Het
Vmn2r23 A T 6: 123,741,744 K685N probably damaging Het
Zcchc4 T A 5: 52,796,076 H142Q probably damaging Het
Zfp521 T C 18: 13,844,246 I1037V possibly damaging Het
Other mutations in Ica1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00895:Ica1 APN 6 8653514 missense 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 On2015-04-16