Mutagenetix > Incidental Mutation

Incidental Mutation 'R6167:Ceacam16'

490188

Institutional Source

Beutler Lab

Gene Symbol

Ceacam16

Ensembl Gene

ENSMUSG00000014686

Gene Name

CEA cell adhesion molecule 16

Synonyms

LOC330483

MMRRC Submission

044313-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6167 (G1)

Quality Score

81.0075

Status

Not validated

Chromosome

Chromosomal Location

19586022-19595224 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

G to A at 19595182 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000134044 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000014830] [ENSMUST00000172815]

AlphaFold

E9QA28

Predicted Effect

probably benign
Transcript: ENSMUST00000014830

SMART Domains

Protein: ENSMUSP00000014830
Gene: ENSMUSG00000014686

Domain	Start	End	E-Value	Type
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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.8%

Validation Efficiency

98% (50/51)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	T	A	11: 110,182,931 (GRCm39)	E1042V	probably benign	Het
Ahnak2	T	C	12: 112,747,750 (GRCm39)	E1035G	probably benign	Het
Aip	T	G	19: 4,165,188 (GRCm39)	D227A	probably benign	Het
Ankrd13d	T	C	19: 4,323,081 (GRCm39)	H283R	probably damaging	Het
Aox4	C	T	1: 58,303,094 (GRCm39)	T1175I	probably damaging	Het
Atn1	T	C	6: 124,723,700 (GRCm39)		probably benign	Het
Camkk2	A	G	5: 122,902,187 (GRCm39)	S41P	probably damaging	Het
Dcaf15	T	C	8: 84,824,626 (GRCm39)	N524D	possibly damaging	Het
Dcaf7	A	T	11: 105,928,077 (GRCm39)	Y43F	probably damaging	Het
Epha3	T	C	16: 63,433,287 (GRCm39)	I453V	probably benign	Het
Etv1	A	T	12: 38,915,640 (GRCm39)	T413S	possibly damaging	Het
Evx2	A	C	2: 74,489,606 (GRCm39)	L53R	probably damaging	Het
Fam168b	G	A	1: 34,858,684 (GRCm39)	A166V	probably damaging	Het
Fancm	A	T	12: 65,141,669 (GRCm39)	Y430F	probably benign	Het
Fyb2	A	G	4: 104,802,661 (GRCm39)	T188A	possibly damaging	Het
Gabbr1	T	C	17: 37,374,271 (GRCm39)	I538T	probably damaging	Het
Glyctk	T	A	9: 106,033,691 (GRCm39)	T208S	possibly damaging	Het
Golga7	T	C	8: 23,735,904 (GRCm39)	D114G	probably damaging	Het
Grip1	T	C	10: 119,733,702 (GRCm39)		probably null	Het
Gtf2f1	G	T	17: 57,311,161 (GRCm39)	S351R	probably damaging	Het
Hook2	T	C	8: 85,721,642 (GRCm39)	L300P	probably damaging	Het
Hsf4	A	G	8: 105,997,481 (GRCm39)	S45G	probably damaging	Het
Iars1	T	A	13: 49,876,190 (GRCm39)	M825K	probably damaging	Het
Kcnj2	A	G	11: 110,963,315 (GRCm39)	I236V	probably benign	Het
Large2	G	A	2: 92,197,433 (GRCm39)	T354I	probably benign	Het
Mak	C	A	13: 41,206,828 (GRCm39)	V101F	probably benign	Het
Mylk2	A	G	2: 152,757,673 (GRCm39)		probably null	Het
Myo18b	A	T	5: 113,020,373 (GRCm39)		probably null	Het
Neb	T	A	2: 52,037,249 (GRCm39)	H2955L	probably benign	Het
Neurl1a	G	C	19: 47,228,367 (GRCm39)	G71A	probably damaging	Het
Ogfrl1	A	T	1: 23,415,309 (GRCm39)	L142Q	probably damaging	Het
Or11g27	C	A	14: 50,771,612 (GRCm39)	H248N	probably damaging	Het
Or1e27-ps1	A	G	11: 73,556,160 (GRCm39)	T242A	probably damaging	Het
P3h4	C	A	11: 100,302,671 (GRCm39)	A322S	probably damaging	Het
Piwil2	A	C	14: 70,660,342 (GRCm39)		probably null	Het
Pkd2l2	A	G	18: 34,561,297 (GRCm39)	D435G	probably damaging	Het
Plekha6	A	G	1: 133,207,145 (GRCm39)	N567S	probably null	Het
Prss54	G	A	8: 96,286,173 (GRCm39)	P300L	possibly damaging	Het
Pxdn	G	A	12: 30,024,000 (GRCm39)	R67Q	probably damaging	Het
Rapgef3	C	A	15: 97,665,292 (GRCm39)		probably benign	Het
Sec24b	C	T	3: 129,782,550 (GRCm39)	G1147S	possibly damaging	Het
Sh2b3	A	T	5: 121,966,418 (GRCm39)		probably null	Het
Sh3glb1	A	T	3: 144,397,664 (GRCm39)	D358E	probably damaging	Het
Shmt2	C	T	10: 127,353,731 (GRCm39)	R478H	probably benign	Het
Slc1a6	A	G	10: 78,637,671 (GRCm39)	E399G	probably benign	Het
Slc22a23	T	A	13: 34,528,542 (GRCm39)	Y80F	probably damaging	Het
Slc25a19	A	G	11: 115,506,377 (GRCm39)	V272A	probably benign	Het
Stk32a	A	T	18: 43,446,474 (GRCm39)	D308V	probably damaging	Het
Tenm3	T	C	8: 48,707,657 (GRCm39)	I1698V	possibly damaging	Het
Thoc5	G	A	11: 4,865,497 (GRCm39)	V359M	probably benign	Het
Tmpo	C	T	10: 90,998,800 (GRCm39)	R329H	probably benign	Het
Trim8	T	C	19: 46,503,626 (GRCm39)	S393P	probably benign	Het
Vill	A	T	9: 118,895,932 (GRCm39)	Y103F	probably damaging	Het
Zfp948	T	G	17: 21,807,911 (GRCm39)	F368V	probably benign	Het
Zpld1	C	T	16: 55,053,962 (GRCm39)	E277K	probably damaging	Het

Other mutations in Ceacam16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01401:Ceacam16	APN	7	19,595,054 (GRCm39)	missense	probably benign
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
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

Predicted Primers

Posted On

2017-10-10