Incidental Mutation 'IGL01344:Ccin'
ID 74992
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccin
Ensembl Gene ENSMUSG00000070999
Gene Name calicin
Synonyms 4933417A14Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.211) question?
Stock # IGL01344
Quality Score
Status
Chromosome 4
Chromosomal Location 43983483-43985423 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 43984069 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Tyrosine at position 159 (N159Y)
Ref Sequence ENSEMBL: ENSMUSP00000092725 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030202] [ENSMUST00000095107] [ENSMUST00000107855]
AlphaFold Q8CDE2
Predicted Effect probably benign
Transcript: ENSMUST00000030202
SMART Domains Protein: ENSMUSP00000030202
Gene: ENSMUSG00000028480

DomainStartEndE-ValueType
SCP 8 141 2.98e-35 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000095107
AA Change: N159Y

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000092725
Gene: ENSMUSG00000070999
AA Change: N159Y

DomainStartEndE-ValueType
BTB 28 128 1.55e-21 SMART
BACK 133 237 4.4e-7 SMART
Kelch 280 327 2.3e0 SMART
Kelch 328 375 2.39e-6 SMART
Kelch 376 423 2.56e0 SMART
Blast:Kelch 526 580 7e-22 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000107855
SMART Domains Protein: ENSMUSP00000103487
Gene: ENSMUSG00000028480

DomainStartEndE-ValueType
SCP 2 70 1.95e-3 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a basic protein of the sperm head cytoskeleton. This protein contains kelch repeats and a BTB/POZ domain and is necessary for normal morphology during sperm differentiation. This gene is intronless. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930518I15Rik A G 2: 156,699,020 (GRCm39) probably benign Het
Aak1 A G 6: 86,923,139 (GRCm39) K237R possibly damaging Het
Antxrl A C 14: 33,797,554 (GRCm39) M510L probably benign Het
Bdp1 T C 13: 100,214,588 (GRCm39) D417G probably benign Het
C3 T G 17: 57,531,880 (GRCm39) N250T probably benign Het
Cacna2d1 T A 5: 16,575,629 (GRCm39) I1073K probably benign Het
Cep76 T C 18: 67,756,467 (GRCm39) T455A possibly damaging Het
Chaf1a T A 17: 56,371,104 (GRCm39) V663E probably damaging Het
Chit1 T C 1: 134,079,052 (GRCm39) F454S probably damaging Het
Cimip2a A T 2: 25,110,345 (GRCm39) I86F possibly damaging Het
Clasp2 A G 9: 113,642,360 (GRCm39) probably null Het
Ctcfl G T 2: 172,936,527 (GRCm39) A615E possibly damaging Het
Edaradd T C 13: 12,493,371 (GRCm39) D107G probably damaging Het
Efl1 T C 7: 82,330,688 (GRCm39) probably benign Het
Eps15l1 A G 8: 73,136,169 (GRCm39) probably null Het
Fahd2a T C 2: 127,283,987 (GRCm39) K18E probably benign Het
Fbxl20 A T 11: 97,990,926 (GRCm39) C147* probably null Het
Gsap G T 5: 21,447,881 (GRCm39) probably null Het
Gtse1 A T 15: 85,746,267 (GRCm39) probably null Het
Kcp A T 6: 29,498,950 (GRCm39) probably null Het
Llgl2 A G 11: 115,742,019 (GRCm39) D687G probably benign Het
Mcpt8 T A 14: 56,321,402 (GRCm39) I21F probably damaging Het
Met C A 6: 17,547,031 (GRCm39) S888Y probably benign Het
Mrtfa T C 15: 80,900,503 (GRCm39) T663A probably damaging Het
Ngf A G 3: 102,427,628 (GRCm39) T130A probably benign Het
Otud7b T A 3: 96,058,297 (GRCm39) probably benign Het
Preb C T 5: 31,113,388 (GRCm39) V349M probably damaging Het
Prmt1 G T 7: 44,627,059 (GRCm39) probably benign Het
Psg27 T C 7: 18,294,342 (GRCm39) D355G probably damaging Het
Ptprt T A 2: 161,393,737 (GRCm39) D1209V probably damaging Het
Rigi G A 4: 40,208,883 (GRCm39) T698I probably damaging Het
Sh3bp4 A G 1: 89,080,958 (GRCm39) N925S probably benign Het
Skint3 T A 4: 112,147,519 (GRCm39) M414K possibly damaging Het
Skor1 A T 9: 63,049,560 (GRCm39) S787R possibly damaging Het
Slc12a7 T A 13: 73,940,856 (GRCm39) I288N probably damaging Het
Smg1 A G 7: 117,790,059 (GRCm39) probably benign Het
Tpp2 C T 1: 44,022,422 (GRCm39) T940I probably benign Het
Trappc11 A T 8: 47,972,739 (GRCm39) I278N probably damaging Het
Umodl1 G A 17: 31,215,238 (GRCm39) V1021I probably damaging Het
Usp24 T C 4: 106,236,582 (GRCm39) S1059P possibly damaging Het
Other mutations in Ccin
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01688:Ccin APN 4 43,984,985 (GRCm39) missense possibly damaging 0.95
R1017:Ccin UTSW 4 43,985,222 (GRCm39) missense probably benign 0.05
R1707:Ccin UTSW 4 43,983,947 (GRCm39) missense probably benign
R1709:Ccin UTSW 4 43,984,133 (GRCm39) missense probably damaging 1.00
R4657:Ccin UTSW 4 43,984,981 (GRCm39) missense probably damaging 1.00
R4954:Ccin UTSW 4 43,985,077 (GRCm39) missense probably benign
R5958:Ccin UTSW 4 43,983,854 (GRCm39) missense probably damaging 0.98
R6034:Ccin UTSW 4 43,985,354 (GRCm39) missense probably benign 0.00
R6034:Ccin UTSW 4 43,985,354 (GRCm39) missense probably benign 0.00
R6768:Ccin UTSW 4 43,984,574 (GRCm39) missense probably benign
R8272:Ccin UTSW 4 43,984,064 (GRCm39) missense probably damaging 1.00
R8948:Ccin UTSW 4 43,984,064 (GRCm39) missense probably damaging 1.00
R9024:Ccin UTSW 4 43,983,562 (GRCm39) unclassified probably benign
Z1176:Ccin UTSW 4 43,985,018 (GRCm39) missense probably damaging 0.97
Z1177:Ccin UTSW 4 43,984,902 (GRCm39) missense probably benign 0.01
Posted On 2013-10-07