Incidental Mutation 'IGL01526:Ica1l'
ID 89571
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ica1l
Ensembl Gene ENSMUSG00000026018
Gene Name islet cell autoantigen 1-like
Synonyms Als2cr15, b2b3465Clo, 1700030B17Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01526
Quality Score
Status
Chromosome 1
Chromosomal Location 60024955-60082646 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 60054916 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 105 (M105T)
Ref Sequence ENSEMBL: ENSMUSP00000140520 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027172] [ENSMUST00000189776] [ENSMUST00000191251]
AlphaFold Q3TY65
Predicted Effect probably damaging
Transcript: ENSMUST00000027172
AA Change: M105T

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000027172
Gene: ENSMUSG00000026018
AA Change: M105T

DomainStartEndE-ValueType
Arfaptin 15 242 1.03e-112 SMART
ICA69 254 431 1.35e-75 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187364
Predicted Effect possibly damaging
Transcript: ENSMUST00000189776
AA Change: M105T

PolyPhen 2 Score 0.869 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000141103
Gene: ENSMUSG00000026018
AA Change: M105T

DomainStartEndE-ValueType
Arfaptin 15 242 7.8e-117 SMART
ICA69 254 439 2.7e-64 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000191251
AA Change: M105T

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000140520
Gene: ENSMUSG00000026018
AA Change: M105T

DomainStartEndE-ValueType
Arfaptin 15 242 1.03e-112 SMART
ICA69 254 431 1.35e-75 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a hypomorphic allele exhibit reduced male fertility with oligospermia, globospermia, and abnormal spermiogenesis, sperm nucleus and mitochondrial sheath morphology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1500002C15Rik G T 4: 155,818,628 (GRCm39) probably benign Het
4933430I17Rik G T 4: 62,450,858 (GRCm39) R107L possibly damaging Het
Acvr1 A T 2: 58,348,997 (GRCm39) D388E probably benign Het
Art3 T C 5: 92,562,199 (GRCm39) S354P probably damaging Het
Bpnt1 C A 1: 185,077,591 (GRCm39) S102* probably null Het
Ces1a G T 8: 93,771,726 (GRCm39) P24T probably damaging Het
Cfap65 A T 1: 74,950,237 (GRCm39) S1171T probably damaging Het
Cracd T A 5: 77,005,478 (GRCm39) M613K unknown Het
Csn2 T C 5: 87,842,838 (GRCm39) H47R possibly damaging Het
Gm14496 T A 2: 181,637,458 (GRCm39) D177E probably benign Het
Hmbs A G 9: 44,250,845 (GRCm39) V126A possibly damaging Het
Morc2a G A 11: 3,600,428 (GRCm39) E17K probably benign Het
Mroh8 T C 2: 157,080,232 (GRCm39) probably benign Het
Mroh9 G T 1: 162,883,172 (GRCm39) L436I probably damaging Het
Nup54 T C 5: 92,565,334 (GRCm39) D461G probably benign Het
Or10ag2 A T 2: 87,249,319 (GRCm39) D309V probably damaging Het
Or2t45 A G 11: 58,669,123 (GRCm39) T57A probably benign Het
Pcid2 G A 8: 13,135,319 (GRCm39) probably benign Het
Ppp1r3b G T 8: 35,851,872 (GRCm39) R237L probably benign Het
Prdm11 A G 2: 92,843,102 (GRCm39) V119A probably damaging Het
S100a7l2 T A 3: 90,995,612 (GRCm39) probably benign Het
Serpina5 T A 12: 104,068,149 (GRCm39) V70E probably damaging Het
Skap2 C T 6: 51,884,894 (GRCm39) D249N probably benign Het
Slc22a29 A T 19: 8,184,542 (GRCm39) probably benign Het
Slc4a1ap C A 5: 31,685,571 (GRCm39) T283K possibly damaging Het
Slc6a21 T G 7: 44,937,220 (GRCm39) I575S probably damaging Het
Smpd1 T G 7: 105,203,982 (GRCm39) W82G probably benign Het
Snx14 T A 9: 88,263,553 (GRCm39) M897L probably damaging Het
Tjp1 A G 7: 64,972,406 (GRCm39) V586A probably damaging Het
Tmc8 T C 11: 117,682,910 (GRCm39) probably benign Het
Trim34a A G 7: 103,909,706 (GRCm39) Y298C probably damaging Het
Ube3c T C 5: 29,872,960 (GRCm39) V1000A probably damaging Het
Other mutations in Ica1l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00771:Ica1l APN 1 60,053,106 (GRCm39) missense probably damaging 1.00
IGL02538:Ica1l APN 1 60,049,345 (GRCm39) missense probably benign 0.01
IGL02966:Ica1l APN 1 60,049,298 (GRCm39) missense probably damaging 1.00
IGL03379:Ica1l APN 1 60,036,780 (GRCm39) missense probably benign 0.07
PIT4466001:Ica1l UTSW 1 60,054,995 (GRCm39) critical splice acceptor site probably null
R0278:Ica1l UTSW 1 60,053,155 (GRCm39) missense probably benign 0.05
R0780:Ica1l UTSW 1 60,036,608 (GRCm39) critical splice donor site probably null
R0926:Ica1l UTSW 1 60,045,456 (GRCm39) missense probably benign 0.09
R1834:Ica1l UTSW 1 60,067,395 (GRCm39) utr 5 prime probably benign
R2402:Ica1l UTSW 1 60,045,451 (GRCm39) missense probably benign 0.00
R4155:Ica1l UTSW 1 60,053,052 (GRCm39) missense possibly damaging 0.71
R4545:Ica1l UTSW 1 60,052,977 (GRCm39) critical splice donor site probably null
R4754:Ica1l UTSW 1 60,067,321 (GRCm39) missense probably damaging 1.00
R4791:Ica1l UTSW 1 60,049,360 (GRCm39) missense probably damaging 1.00
R5096:Ica1l UTSW 1 60,067,313 (GRCm39) missense possibly damaging 0.92
R5217:Ica1l UTSW 1 60,054,917 (GRCm39) missense probably benign 0.03
R5461:Ica1l UTSW 1 60,053,010 (GRCm39) missense probably damaging 1.00
R5780:Ica1l UTSW 1 60,067,374 (GRCm39) missense probably benign 0.04
R6557:Ica1l UTSW 1 60,036,784 (GRCm39) missense probably benign 0.28
R7400:Ica1l UTSW 1 60,081,801 (GRCm39) splice site probably null
R7560:Ica1l UTSW 1 60,049,369 (GRCm39) nonsense probably null
R7819:Ica1l UTSW 1 60,054,953 (GRCm39) missense possibly damaging 0.79
R7824:Ica1l UTSW 1 60,047,029 (GRCm39) missense probably benign
Posted On 2013-12-03