Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02094:Ceacam1'

279522

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ceacam1

Ensembl Gene

ENSMUSG00000074272

Gene Name

carcinoembryonic antigen-related cell adhesion molecule 1

Synonyms

Cea1, C-CAM, Cc1, Hv2, CD66a, Cea-7, Cea7, Mhv-1, Hv-2, MHVR1, mmCGM1, mCEA1, Bgp1, mmCGM2, Bgp, Cea-1

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

IGL02094

Quality Score

Status

Chromosome

Chromosomal Location

25461707-25477603 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 25474543 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 229 (D229G)

Ref Sequence

ENSEMBL: ENSMUSP00000145584 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098666] [ENSMUST00000098668] [ENSMUST00000098669] [ENSMUST00000205308] [ENSMUST00000206171] [ENSMUST00000206583] [ENSMUST00000206676] [ENSMUST00000206687]

Predicted Effect

probably damaging
Transcript: ENSMUST00000098666
AA Change: D229G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000096263
Gene: ENSMUSG00000074272
AA Change: D229G

Domain	Start	End	E-Value	Type
Pfam:V-set	18	140	1e-21	PFAM
IGc2	158	224	1.61e-7	SMART
IGc2	252	308	5.04e-9	SMART
IGc2	337	401	8.37e-15	SMART
transmembrane domain	426	448	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000098668

SMART Domains

Protein: ENSMUSP00000096265
Gene: ENSMUSG00000074272

Domain	Start	End	E-Value	Type
Pfam:V-set	12	140	2.4e-21	PFAM
IGc2	157	221	8.37e-15	SMART
transmembrane domain	246	268	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000098669
AA Change: D229G

PolyPhen 2 Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000096266
Gene: ENSMUSG00000074272
AA Change: D229G

Domain	Start	End	E-Value	Type
signal peptide	1	34	N/A	INTRINSIC
Pfam:V-set	39	141	3.6e-13	PFAM
IGc2	158	224	1.61e-7	SMART
IGc2	252	308	5.04e-9	SMART
IGc2	337	401	8.37e-15	SMART
transmembrane domain	426	448	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000205308

Predicted Effect

probably damaging
Transcript: ENSMUST00000206171
AA Change: D229G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206300

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206483

Predicted Effect

probably benign
Transcript: ENSMUST00000206583
AA Change: D229G

PolyPhen 2 Score 0.400 (Sensitivity: 0.89; Specificity: 0.89)

Predicted Effect

probably damaging
Transcript: ENSMUST00000206676
AA Change: D229G

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

Predicted Effect

probably benign
Transcript: ENSMUST00000206687

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206717

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206981

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice lacking appreciable levels of the two isoforms containing 4 Ig domains and having increased levels of the two isoforms containing 2 Ig domains are viable and fertile. They are significantly more resistant to mouse hepatitis virus than wild-type mice. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam29	T	C	8: 55,871,445	N658S	possibly damaging	Het
Adcy10	T	C	1: 165,570,620	Y1429H	probably damaging	Het
Aebp1	G	A	11: 5,868,357	M98I	probably benign	Het
Arl3	T	C	19: 46,558,341	D15G	probably benign	Het
Casp2	T	A	6: 42,280,359	I414N	probably damaging	Het
Cog7	G	T	7: 121,963,247	A234E	probably benign	Het
Csgalnact1	C	A	8: 68,401,492	G219V	probably damaging	Het
Cyp3a59	A	T	5: 146,104,821	T392S	probably benign	Het
Ebf2	G	A	14: 67,235,240	V36M	possibly damaging	Het
Fbxw15	A	C	9: 109,558,240	V229G	possibly damaging	Het
Got1l1	A	G	8: 27,199,845	V171A	probably benign	Het
Itgax	A	G	7: 128,131,473	Y121C	probably damaging	Het
Kcng4	C	A	8: 119,633,221	A139S	probably damaging	Het
Kcnj9	G	T	1: 172,325,708	T283K	probably damaging	Het
Mgl2	T	A	11: 70,137,097	I377K	possibly damaging	Het
Myo15	T	C	11: 60,510,647		probably benign	Het
Nod1	A	T	6: 54,939,390		probably null	Het
Nr1h5	A	T	3: 102,952,196	C182*	probably null	Het
Nup210l	G	T	3: 90,180,213		probably null	Het
Ptbp2	G	A	3: 119,752,940		probably benign	Het
Ptpn13	T	G	5: 103,594,617	F2401V	probably damaging	Het
Rbbp6	T	C	7: 122,997,262	S676P	probably damaging	Het
Recql4	T	A	15: 76,709,517	Q131L	probably benign	Het
Sbno2	G	A	10: 80,057,645	P1274L	probably benign	Het
Sec24c	T	C	14: 20,688,402	V341A	probably damaging	Het
Smc1b	A	T	15: 85,097,891		probably benign	Het
Sptbn1	T	C	11: 30,100,659	H2310R	probably benign	Het
Tas2r109	T	A	6: 132,980,239	I243F	possibly damaging	Het
Trpc1	A	C	9: 95,743,281	D97E	probably damaging	Het
Trpm2	G	A	10: 77,942,996	Q379*	probably null	Het
Ttn	A	G	2: 76,818,823		probably benign	Het
Vmn2r74	A	T	7: 85,961,461	F8I	probably benign	Het
Zfp36	C	T	7: 28,377,763	S240N	probably benign	Het
Zfp65	A	G	13: 67,708,185	I325T	possibly damaging	Het

Other mutations in Ceacam1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00701:Ceacam1	APN	7	25471914	missense	possibly damaging	0.86
IGL01766:Ceacam1	APN	7	25471995	missense	probably damaging	1.00
IGL02869:Ceacam1	APN	7	25476541	missense	probably benign	0.07
IGL03325:Ceacam1	APN	7	25476487	missense	possibly damaging	0.83
PIT4445001:Ceacam1	UTSW	7	25476456	missense	probably damaging	1.00
PIT4810001:Ceacam1	UTSW	7	25471975	missense	probably damaging	1.00
R0464:Ceacam1	UTSW	7	25472017	missense	possibly damaging	0.64
R1270:Ceacam1	UTSW	7	25466314	splice site	probably null
R1771:Ceacam1	UTSW	7	25472044	missense	probably benign	0.17
R1819:Ceacam1	UTSW	7	25463860	missense	possibly damaging	0.68
R1964:Ceacam1	UTSW	7	25474708	missense	probably benign	0.13
R2048:Ceacam1	UTSW	7	25476688	missense	probably benign	0.09
R2760:Ceacam1	UTSW	7	25477474	missense	probably damaging	0.99
R2857:Ceacam1	UTSW	7	25474017	missense	probably damaging	0.96
R2859:Ceacam1	UTSW	7	25474017	missense	probably damaging	0.96
R3546:Ceacam1	UTSW	7	25471914	missense	probably benign	0.07
R4471:Ceacam1	UTSW	7	25474600	missense	possibly damaging	0.93
R4606:Ceacam1	UTSW	7	25474526	missense	probably damaging	0.97
R4810:Ceacam1	UTSW	7	25474520	makesense	probably null
R5291:Ceacam1	UTSW	7	25471831	missense	probably damaging	0.99
R5405:Ceacam1	UTSW	7	25463865	missense	probably benign	0.41
R5423:Ceacam1	UTSW	7	25474526	missense	probably benign	0.01
R5851:Ceacam1	UTSW	7	25474600	missense	possibly damaging	0.70
R5967:Ceacam1	UTSW	7	25474742	missense	probably damaging	0.97
R6216:Ceacam1	UTSW	7	25471996	missense	probably benign	0.19
R6235:Ceacam1	UTSW	7	25471792	splice site	probably null
R6323:Ceacam1	UTSW	7	25474651	missense	probably damaging	1.00
R6545:Ceacam1	UTSW	7	25473854	missense	probably damaging	1.00
R7371:Ceacam1	UTSW	7	25474720	missense	possibly damaging	0.95
R7760:Ceacam1	UTSW	7	25472025	missense	probably damaging	1.00
R7790:Ceacam1	UTSW	7	25473950	missense	probably damaging	1.00
R7869:Ceacam1	UTSW	7	25476529	missense	probably damaging	0.97
R7934:Ceacam1	UTSW	7	25463795	missense	possibly damaging	0.68
R8189:Ceacam1	UTSW	7	25473918	missense	probably damaging	0.96
X0028:Ceacam1	UTSW	7	25476420	missense	probably damaging	1.00

Posted On

2015-04-16