Incidental Mutation 'IGL01401:Ceacam16'
ID79632
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ceacam16
Ensembl Gene ENSMUSG00000014686
Gene Namecarcinoembryonic antigen-related cell adhesion molecule 16
SynonymsLOC330483
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01401
Quality Score
Status
Chromosome7
Chromosomal Location19852097-19861299 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 19861129 bp
ZygosityHeterozygous
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]
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
2810474O19Rik A G 6: 149,326,896 E480G probably damaging Het
4932438A13Rik A G 3: 36,942,292 N1051S probably benign Het
Adgrl3 T C 5: 81,688,669 V758A possibly damaging Het
Arf4 T C 14: 26,638,454 L12P probably damaging Het
C4bp A T 1: 130,648,064 V230E possibly damaging Het
Carm1 T A 9: 21,569,582 probably null Het
Cd4 G A 6: 124,879,378 T50I probably benign Het
Ckap2l A T 2: 129,269,216 V687E probably damaging Het
Dcaf4 A G 12: 83,541,374 D449G probably damaging Het
Dhx38 T C 8: 109,552,114 Y1113C probably benign Het
Fry A G 5: 150,438,788 I161V probably benign Het
Gm17093 A C 14: 44,521,527 M169L unknown Het
Gm20721 A G 2: 174,345,502 D999G probably damaging Het
Grin2b T C 6: 135,736,363 H840R probably damaging Het
Hoxc12 C A 15: 102,937,320 H156Q probably benign Het
Htr3b T C 9: 48,947,634 D68G probably damaging Het
Inpp5b T C 4: 124,746,087 V99A probably damaging Het
Klhl42 C T 6: 147,107,743 T360M probably benign Het
Lmo7 C T 14: 101,794,277 R36* probably null Het
Lmod3 T G 6: 97,252,552 N7T probably damaging Het
Malrd1 G A 2: 16,101,957 probably null Het
Mthfd2l T A 5: 91,000,566 I284K possibly damaging Het
Myo1e T A 9: 70,327,166 I267N probably damaging Het
Olfr1393 T A 11: 49,280,487 V113E possibly damaging Het
Olfr159 T C 4: 43,770,112 R300G probably damaging Het
Prkce T C 17: 86,168,840 V83A probably damaging Het
Pxdn G T 12: 30,001,984 C540F probably damaging Het
Ryr2 T A 13: 11,591,352 E4448V possibly damaging Het
Scn1a A T 2: 66,289,111 N1349K probably damaging Het
Smarcc1 T C 9: 110,149,965 I172T possibly damaging Het
Syt16 T C 12: 74,222,663 V92A possibly damaging Het
Tenm4 A G 7: 96,874,267 Y1672C probably damaging Het
Tmem131 A G 1: 36,799,387 Y1486H probably damaging Het
Tmem132a A G 19: 10,861,524 probably benign Het
Usp40 A T 1: 87,994,198 D314E probably damaging Het
Vmn2r79 G A 7: 87,037,273 V621I probably benign Het
Wnk4 A G 11: 101,276,683 probably benign Het
Wwc1 C A 11: 35,898,618 probably null Het
Other mutations in Ceacam16
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02643:Ceacam16 APN 7 19861161 unclassified probably benign
BB006:Ceacam16 UTSW 7 19853631 missense probably damaging 1.00
BB016:Ceacam16 UTSW 7 19853631 missense probably damaging 1.00
R1793:Ceacam16 UTSW 7 19856116 missense probably damaging 1.00
R1830:Ceacam16 UTSW 7 19858878 missense possibly damaging 0.90
R2153:Ceacam16 UTSW 7 19861141 missense probably benign
R3975:Ceacam16 UTSW 7 19853612 missense probably damaging 1.00
R3980:Ceacam16 UTSW 7 19858633 missense probably benign
R4433:Ceacam16 UTSW 7 19853589 missense possibly damaging 0.65
R4634:Ceacam16 UTSW 7 19858606 missense probably benign
R5839:Ceacam16 UTSW 7 19856083 nonsense probably null
R5973:Ceacam16 UTSW 7 19856337 missense probably damaging 1.00
R6167:Ceacam16 UTSW 7 19861257 unclassified probably benign
R6969:Ceacam16 UTSW 7 19852305 makesense probably null
R7648:Ceacam16 UTSW 7 19852278 missense unknown
R7929:Ceacam16 UTSW 7 19853631 missense probably damaging 1.00
R8506:Ceacam16 UTSW 7 19852270 missense unknown
R8878:Ceacam16 UTSW 7 19858731 missense possibly damaging 0.96
Posted On2013-11-05