Incidental Mutation 'IGL02643:Ceacam16'
ID 301845
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 # IGL02643
Quality Score
Status
Chromosome 7
Chromosomal Location 19586022-19595224 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to G at 19595086 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000147247 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014830] [ENSMUST00000172815] [ENSMUST00000208198]
AlphaFold E9QA28
Predicted Effect probably benign
Transcript: ENSMUST00000014830
SMART Domains Protein: ENSMUSP00000014830
Gene: ENSMUSG00000014686

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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad10 T G 5: 121,769,633 (GRCm39) M608L probably benign Het
Adamts2 A T 11: 50,679,527 (GRCm39) M836L probably benign Het
Ankrd11 A T 8: 123,619,061 (GRCm39) M1597K probably damaging Het
Arhgef17 A T 7: 100,533,089 (GRCm39) F1145L possibly damaging Het
Atp13a3 A T 16: 30,152,614 (GRCm39) W32R probably null Het
Atp2a3 C A 11: 72,866,165 (GRCm39) H262N probably benign Het
Bod1l T A 5: 41,976,148 (GRCm39) E1722V possibly damaging Het
Col14a1 T A 15: 55,284,258 (GRCm39) Y840N unknown Het
Dlg5 A G 14: 24,241,250 (GRCm39) C132R probably damaging Het
Dock4 T A 12: 40,718,429 (GRCm39) N242K probably damaging Het
Dsg3 G A 18: 20,662,012 (GRCm39) V426I probably benign Het
Dync1h1 T C 12: 110,625,706 (GRCm39) probably benign Het
Flvcr2 T A 12: 85,842,997 (GRCm39) M357K possibly damaging Het
Gapvd1 A G 2: 34,594,192 (GRCm39) S932P probably damaging Het
Gata4 T A 14: 63,442,204 (GRCm39) D205V possibly damaging Het
Kcnk2 T A 1: 188,990,976 (GRCm39) I195L possibly damaging Het
Krt1 T C 15: 101,755,479 (GRCm39) I427V probably benign Het
Mapk1ip1l T A 14: 47,548,339 (GRCm39) H162Q possibly damaging Het
Micu1 A G 10: 59,675,558 (GRCm39) D380G probably damaging Het
Mknk2 A C 10: 80,504,435 (GRCm39) L289R probably damaging Het
Mtcl2 A G 2: 156,882,663 (GRCm39) V463A probably damaging Het
Myo18a A T 11: 77,668,998 (GRCm39) N286I possibly damaging Het
Or5ae2 A T 7: 84,506,239 (GRCm39) I221F probably damaging Het
Pdp1 C T 4: 11,962,062 (GRCm39) R83H probably benign Het
Ptafr A C 4: 132,307,437 (GRCm39) I276L probably benign Het
Rab3gap2 A T 1: 184,999,197 (GRCm39) D968V possibly damaging Het
Rplp1rt T C 19: 12,824,300 (GRCm39) noncoding transcript Het
Samd8 T A 14: 21,843,212 (GRCm39) M447K probably damaging Het
Six5 G T 7: 18,831,455 (GRCm39) V649L probably benign Het
Slc1a2 T A 2: 102,570,225 (GRCm39) F168I probably benign Het
Slc1a7 G A 4: 107,869,497 (GRCm39) V521M possibly damaging Het
Sorbs1 T C 19: 40,353,577 (GRCm39) D206G possibly damaging Het
Stim2 T C 5: 54,267,955 (GRCm39) V417A probably damaging Het
Tbx20 A G 9: 24,685,009 (GRCm39) probably benign Het
Tia1 A G 6: 86,393,372 (GRCm39) I71V probably benign Het
Ttc7 T C 17: 87,648,327 (GRCm39) S509P possibly damaging Het
Ttpal A G 2: 163,449,140 (GRCm39) probably benign Het
Tubgcp2 A T 7: 139,576,067 (GRCm39) N865K probably damaging Het
Wdr45 G T X: 7,593,288 (GRCm39) E62* probably null Het
Zfp507 A G 7: 35,494,656 (GRCm39) F129S probably damaging Het
Zfp518b T A 5: 38,831,498 (GRCm39) H169L probably damaging Het
Other mutations in Ceacam16
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01401:Ceacam16 APN 7 19,595,054 (GRCm39) missense 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 2015-04-16