Incidental Mutation 'IGL01401:Ceacam16'
ID 79632
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ceacam16
Ensembl Gene ENSMUSG00000014686
Gene Name CEA cell adhesion molecule 16
Synonyms LOC330483
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01401
Quality Score
Status
Chromosome 7
Chromosomal Location 19586022-19595224 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 19595054 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 8 (Y8C)
Ref Sequence ENSEMBL: ENSMUSP00000014830 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014830] [ENSMUST00000172815] [ENSMUST00000208198]
AlphaFold E9QA28
Predicted Effect probably benign
Transcript: ENSMUST00000014830
AA Change: Y8C

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000014830
Gene: ENSMUSG00000014686
AA Change: Y8C

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
IG 28 129 4.04e0 SMART
IG 140 221 2.5e-4 SMART
IGc2 244 301 4.43e-5 SMART
IG 324 423 1.12e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000172815
Predicted Effect probably benign
Transcript: ENSMUST00000208198
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 secreted glycoprotein that in mouse interacts with tectorial membrane proteins in the inner ear. The encoded adhesion protein is found in cochlear outer hair cells and appears to be important for proper hearing over an extended frequency range. Defects in this gene likely are a cause of non-syndromic autosomal dominant hearing loss. [provided by RefSeq, May 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired hearing at low and high frequencies. Mice homozygous for a different knock-out allele show altered tectorial membrane structure and enhanced spontaneous, stimulus-frequency, and transiently evoked otoacoustic emissions. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl3 T C 5: 81,836,516 (GRCm39) V758A possibly damaging Het
Arf4 T C 14: 26,359,609 (GRCm39) L12P probably damaging Het
Bltp1 A G 3: 36,996,441 (GRCm39) N1051S probably benign Het
C4bp A T 1: 130,575,801 (GRCm39) V230E possibly damaging Het
Carm1 T A 9: 21,480,878 (GRCm39) probably null Het
Cd4 G A 6: 124,856,341 (GRCm39) T50I probably benign Het
Ckap2l A T 2: 129,111,136 (GRCm39) V687E probably damaging Het
Dcaf4 A G 12: 83,588,148 (GRCm39) D449G probably damaging Het
Dhx38 T C 8: 110,278,746 (GRCm39) Y1113C probably benign Het
Fry A G 5: 150,362,253 (GRCm39) I161V probably benign Het
Gm17093 A C 14: 44,758,984 (GRCm39) M169L unknown Het
Gm20721 A G 2: 174,187,295 (GRCm39) D999G probably damaging Het
Grin2b T C 6: 135,713,361 (GRCm39) H840R probably damaging Het
Hoxc12 C A 15: 102,845,755 (GRCm39) H156Q probably benign Het
Htr3b T C 9: 48,858,934 (GRCm39) D68G probably damaging Het
Inpp5b T C 4: 124,639,880 (GRCm39) V99A probably damaging Het
Klhl42 C T 6: 147,009,241 (GRCm39) T360M probably benign Het
Lmo7 C T 14: 102,031,713 (GRCm39) R36* probably null Het
Lmod3 T G 6: 97,229,513 (GRCm39) N7T probably damaging Het
Malrd1 G A 2: 16,106,768 (GRCm39) probably null Het
Mthfd2l T A 5: 91,148,425 (GRCm39) I284K possibly damaging Het
Myo1e T A 9: 70,234,448 (GRCm39) I267N probably damaging Het
Or13c7d T C 4: 43,770,112 (GRCm39) R300G probably damaging Het
Or2y1g T A 11: 49,171,314 (GRCm39) V113E possibly damaging Het
Prkce T C 17: 86,476,268 (GRCm39) V83A probably damaging Het
Pxdn G T 12: 30,051,983 (GRCm39) C540F probably damaging Het
Resf1 A G 6: 149,228,394 (GRCm39) E480G probably damaging Het
Ryr2 T A 13: 11,606,238 (GRCm39) E4448V possibly damaging Het
Scn1a A T 2: 66,119,455 (GRCm39) N1349K probably damaging Het
Smarcc1 T C 9: 109,979,033 (GRCm39) I172T possibly damaging Het
Syt16 T C 12: 74,269,437 (GRCm39) V92A possibly damaging Het
Tenm4 A G 7: 96,523,474 (GRCm39) Y1672C probably damaging Het
Tmem131 A G 1: 36,838,468 (GRCm39) Y1486H probably damaging Het
Tmem132a A G 19: 10,838,888 (GRCm39) probably benign Het
Usp40 A T 1: 87,921,920 (GRCm39) D314E probably damaging Het
Vmn2r79 G A 7: 86,686,481 (GRCm39) V621I probably benign Het
Wnk4 A G 11: 101,167,509 (GRCm39) probably benign Het
Wwc1 C A 11: 35,789,445 (GRCm39) probably null Het
Other mutations in Ceacam16
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02643:Ceacam16 APN 7 19,595,086 (GRCm39) unclassified probably benign
BB006:Ceacam16 UTSW 7 19,587,556 (GRCm39) missense probably damaging 1.00
BB016:Ceacam16 UTSW 7 19,587,556 (GRCm39) missense probably damaging 1.00
R1793:Ceacam16 UTSW 7 19,590,041 (GRCm39) missense probably damaging 1.00
R1830:Ceacam16 UTSW 7 19,592,803 (GRCm39) missense possibly damaging 0.90
R2153:Ceacam16 UTSW 7 19,595,066 (GRCm39) missense probably benign
R3975:Ceacam16 UTSW 7 19,587,537 (GRCm39) missense probably damaging 1.00
R3980:Ceacam16 UTSW 7 19,592,558 (GRCm39) missense probably benign
R4433:Ceacam16 UTSW 7 19,587,514 (GRCm39) missense possibly damaging 0.65
R4634:Ceacam16 UTSW 7 19,592,531 (GRCm39) missense probably benign
R5839:Ceacam16 UTSW 7 19,590,008 (GRCm39) nonsense probably null
R5973:Ceacam16 UTSW 7 19,590,262 (GRCm39) missense probably damaging 1.00
R6167:Ceacam16 UTSW 7 19,595,182 (GRCm39) unclassified probably benign
R6969:Ceacam16 UTSW 7 19,586,230 (GRCm39) makesense probably null
R7648:Ceacam16 UTSW 7 19,586,203 (GRCm39) missense unknown
R7929:Ceacam16 UTSW 7 19,587,556 (GRCm39) missense probably damaging 1.00
R8506:Ceacam16 UTSW 7 19,586,195 (GRCm39) missense unknown
R8878:Ceacam16 UTSW 7 19,592,656 (GRCm39) missense possibly damaging 0.96
R9583:Ceacam16 UTSW 7 19,587,803 (GRCm39) missense probably damaging 1.00
Posted On 2013-11-05