Incidental Mutation 'IGL01344:Ccin'
ID74992
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccin
Ensembl Gene ENSMUSG00000070999
Gene Namecalicin
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.193) question?
Stock #IGL01344
Quality Score
Status
Chromosome4
Chromosomal Location43983483-43985423 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 43984069 bp
ZygosityHeterozygous
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]
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: 156,857,100 probably benign Het
Aak1 A G 6: 86,946,157 K237R possibly damaging Het
Antxrl A C 14: 34,075,597 M510L probably benign Het
Bdp1 T C 13: 100,078,080 D417G probably benign Het
C3 T G 17: 57,224,880 N250T probably benign Het
Cacna2d1 T A 5: 16,370,631 I1073K probably benign Het
Cep76 T C 18: 67,623,397 T455A possibly damaging Het
Chaf1a T A 17: 56,064,104 V663E probably damaging Het
Chit1 T C 1: 134,151,314 F454S probably damaging Het
Clasp2 A G 9: 113,813,292 probably null Het
Ctcfl G T 2: 173,094,734 A615E possibly damaging Het
Ddx58 G A 4: 40,208,883 T698I probably damaging Het
Edaradd T C 13: 12,478,490 D107G probably damaging Het
Efl1 T C 7: 82,681,480 probably benign Het
Eps15l1 A G 8: 72,382,325 probably null Het
Fahd2a T C 2: 127,442,067 K18E probably benign Het
Fam166a A T 2: 25,220,333 I86F possibly damaging Het
Fbxl20 A T 11: 98,100,100 C147* probably null Het
Gsap G T 5: 21,242,883 probably null Het
Gtse1 A T 15: 85,862,066 probably null Het
Kcp A T 6: 29,498,951 probably null Het
Llgl2 A G 11: 115,851,193 D687G probably benign Het
Mcpt8 T A 14: 56,083,945 I21F probably damaging Het
Met C A 6: 17,547,032 S888Y probably benign Het
Mkl1 T C 15: 81,016,302 T663A probably damaging Het
Ngf A G 3: 102,520,312 T130A probably benign Het
Otud7b T A 3: 96,150,980 probably benign Het
Preb C T 5: 30,956,044 V349M probably damaging Het
Prmt1 G T 7: 44,977,635 probably benign Het
Psg27 T C 7: 18,560,417 D355G probably damaging Het
Ptprt T A 2: 161,551,817 D1209V probably damaging Het
Sh3bp4 A G 1: 89,153,236 N925S probably benign Het
Skint3 T A 4: 112,290,322 M414K possibly damaging Het
Skor1 A T 9: 63,142,278 S787R possibly damaging Het
Slc12a7 T A 13: 73,792,737 I288N probably damaging Het
Smg1 A G 7: 118,190,836 probably benign Het
Tpp2 C T 1: 43,983,262 T940I probably benign Het
Trappc11 A T 8: 47,519,704 I278N probably damaging Het
Umodl1 G A 17: 30,996,264 V1021I probably damaging Het
Usp24 T C 4: 106,379,385 S1059P possibly damaging Het
Other mutations in Ccin
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01688:Ccin APN 4 43984985 missense possibly damaging 0.95
R1017:Ccin UTSW 4 43985222 missense probably benign 0.05
R1707:Ccin UTSW 4 43983947 missense probably benign
R1709:Ccin UTSW 4 43984133 missense probably damaging 1.00
R4657:Ccin UTSW 4 43984981 missense probably damaging 1.00
R4954:Ccin UTSW 4 43985077 missense probably benign
R5958:Ccin UTSW 4 43983854 missense probably damaging 0.98
R6034:Ccin UTSW 4 43985354 missense probably benign 0.00
R6034:Ccin UTSW 4 43985354 missense probably benign 0.00
R6768:Ccin UTSW 4 43984574 missense probably benign
R8272:Ccin UTSW 4 43984064 missense probably damaging 1.00
Z1176:Ccin UTSW 4 43985018 missense probably damaging 0.97
Z1177:Ccin UTSW 4 43984902 missense probably benign 0.01
Posted On2013-10-07