Incidental Mutation 'R7920:Ica1'
ID 648285
Institutional Source Beutler Lab
Gene Symbol Ica1
Ensembl Gene ENSMUSG00000062995
Gene Name islet cell autoantigen 1
Synonyms ICA69, 69kDa
MMRRC Submission 045967-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.183) question?
Stock # R7920 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 8630527-8778488 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 8742274 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 120 (C120S)
Ref Sequence ENSEMBL: ENSMUSP00000040062 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038403] [ENSMUST00000115518] [ENSMUST00000115519] [ENSMUST00000115520] [ENSMUST00000153390] [ENSMUST00000156695]
AlphaFold P97411
Predicted Effect probably benign
Transcript: ENSMUST00000038403
AA Change: C120S

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000040062
Gene: ENSMUSG00000062995
AA Change: C120S

DomainStartEndE-ValueType
Arfaptin 21 248 1.54e-125 SMART
ICA69 260 478 1.25e-93 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000115518
AA Change: C120S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000111180
Gene: ENSMUSG00000062995
AA Change: C120S

DomainStartEndE-ValueType
Arfaptin 21 248 1.54e-125 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000115519
AA Change: C120S

PolyPhen 2 Score 0.176 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000111181
Gene: ENSMUSG00000062995
AA Change: C120S

DomainStartEndE-ValueType
Arfaptin 21 248 1.54e-125 SMART
ICA69 260 465 4.01e-83 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000115520
AA Change: C120S

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000111182
Gene: ENSMUSG00000062995
AA Change: C120S

DomainStartEndE-ValueType
Arfaptin 21 248 1.54e-125 SMART
ICA69 260 478 1.25e-93 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000153390
AA Change: C120S

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000117734
Gene: ENSMUSG00000062995
AA Change: C120S

DomainStartEndE-ValueType
Arfaptin 21 248 1.54e-125 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000156695
AA Change: C120S

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000138459
Gene: ENSMUSG00000062995
AA Change: C120S

DomainStartEndE-ValueType
Arfaptin 21 248 1.54e-125 SMART
Pfam:ICA69 260 301 4.1e-12 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 100% (63/63)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700024B05Rik T C 14: 41,818,130 (GRCm39) S9P probably damaging Het
AI661453 A T 17: 47,779,331 (GRCm39) Q1019L unknown Het
Aldh1a1 T A 19: 20,595,301 (GRCm39) W77R probably damaging Het
Cc2d2a T C 5: 43,896,651 (GRCm39) I1516T probably benign Het
Ccdc149 T A 5: 52,562,436 (GRCm39) I197F probably damaging Het
Cfap119 A G 7: 127,187,125 (GRCm39) M46T probably benign Het
Cfb A G 17: 35,079,867 (GRCm39) V176A probably benign Het
Chordc1 A G 9: 18,213,397 (GRCm39) K83E probably benign Het
Cic G A 7: 24,971,384 (GRCm39) V372M probably benign Het
Coq2 T A 5: 100,811,741 (GRCm39) probably benign Het
Cradd A G 10: 95,158,573 (GRCm39) L58P probably damaging Het
Crim1 A T 17: 78,610,493 (GRCm39) D316V probably damaging Het
Cyb5rl C A 4: 106,928,205 (GRCm39) L114I possibly damaging Het
Cyp2c69 T G 19: 39,866,247 (GRCm39) probably null Het
Ddhd1 A G 14: 45,894,927 (GRCm39) F181S probably damaging Het
Dennd1b G A 1: 138,990,611 (GRCm39) E192K probably damaging Het
Dmrt1 T C 19: 25,483,383 (GRCm39) S56P possibly damaging Het
Dnah12 A G 14: 26,578,499 (GRCm39) E3086G possibly damaging Het
Dnah5 A T 15: 28,453,368 (GRCm39) M4380L probably benign Het
Dph7 A T 2: 24,861,624 (GRCm39) M346L probably benign Het
Eef1ece2 A G 16: 20,456,442 (GRCm39) E428G possibly damaging Het
Egf C T 3: 129,529,489 (GRCm39) R307H probably benign Het
Fam50b G A 13: 34,931,084 (GRCm39) E187K possibly damaging Het
Fcna T C 2: 25,516,298 (GRCm39) K112E probably benign Het
Fkbp5 A T 17: 28,648,213 (GRCm39) N125K possibly damaging Het
Foxo3 C T 10: 42,073,765 (GRCm39) V251I possibly damaging Het
Fryl T A 5: 73,259,150 (GRCm39) probably null Het
Fsip2 A G 2: 82,781,365 (GRCm39) E253G possibly damaging Het
Gprc6a T A 10: 51,491,026 (GRCm39) T908S probably benign Het
Grin2c A T 11: 115,144,970 (GRCm39) F560L probably benign Het
Hao1 T A 2: 134,390,172 (GRCm39) N56Y probably damaging Het
Haus3 T C 5: 34,325,046 (GRCm39) I204M probably benign Het
Htr3b C A 9: 48,848,456 (GRCm39) C263F probably damaging Het
Inpp4a T A 1: 37,406,886 (GRCm39) S210T probably benign Het
Inpp5d T G 1: 87,633,671 (GRCm39) I699S probably damaging Het
Kcng1 A G 2: 168,104,904 (GRCm39) V314A probably benign Het
Lcn11 G A 2: 25,669,343 (GRCm39) V167M possibly damaging Het
Lingo3 C A 10: 80,670,382 (GRCm39) R516L probably benign Het
Lrmda T C 14: 22,646,546 (GRCm39) V151A probably damaging Het
Ly6g5b A C 17: 35,333,578 (GRCm39) I133R probably damaging Het
Mcidas G A 13: 113,135,521 (GRCm39) G315S probably damaging Het
Miip C T 4: 147,947,375 (GRCm39) G236S probably benign Het
Mroh7 T C 4: 106,564,773 (GRCm39) T562A probably benign Het
Nlrc4 A G 17: 74,734,114 (GRCm39) M933T probably benign Het
Or13a25 A T 7: 140,247,814 (GRCm39) S198C possibly damaging Het
Pkhd1 A T 1: 20,345,759 (GRCm39) D2756E probably damaging Het
Plekhm2 T C 4: 141,359,432 (GRCm39) D445G probably damaging Het
Ppp1r12c C T 7: 4,486,354 (GRCm39) G605D probably benign Het
Pygb T A 2: 150,628,922 (GRCm39) N45K possibly damaging Het
Scn4b A G 9: 45,058,069 (GRCm39) T54A probably damaging Het
Scrt1 T A 15: 76,403,417 (GRCm39) H191L unknown Het
Sdc3 A G 4: 130,546,507 (GRCm39) M289V probably benign Het
Shb C T 4: 45,489,054 (GRCm39) probably null Het
Slc1a5 A G 7: 16,527,795 (GRCm39) T364A probably damaging Het
Slc25a27 A G 17: 43,960,564 (GRCm39) V218A probably benign Het
Slc39a4 C T 15: 76,498,285 (GRCm39) G384D probably damaging Het
Sptbn2 C G 19: 4,799,040 (GRCm39) R2037G probably benign Het
Styxl2 T A 1: 165,927,465 (GRCm39) N716Y possibly damaging Het
Tmem67 A T 4: 12,089,284 (GRCm39) probably null Het
Tonsl C T 15: 76,518,787 (GRCm39) R544H probably damaging Het
Trex1 A G 9: 108,887,157 (GRCm39) V278A unknown Het
Ttn A T 2: 76,625,501 (GRCm39) D15107E probably damaging Het
Tubgcp5 A G 7: 55,466,310 (GRCm39) T621A probably benign Het
Zfhx4 T C 3: 5,465,515 (GRCm39) V1916A possibly damaging Het
Zfp260 A T 7: 29,805,017 (GRCm39) K306* probably null Het
Zkscan7 A T 9: 122,724,974 (GRCm39) T648S probably benign Het
Zscan4c T A 7: 10,743,699 (GRCm39) F433I possibly damaging Het
Other mutations in Ica1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- TGCTGCTCTCTATATCCGAGGG -3'
(R):5'- TCTTTGCCCCAGAAGAAAGAG -3'

Sequencing Primer
(F):5'- CTGCTCTCTATATCCGAGGGAAGTG -3'
(R):5'- AAAGAGGGCCTTGTAAGTTGTCTCC -3'
Posted On 2020-09-15