Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02301:Ceacam3'

290282

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ceacam3

Ensembl Gene

ENSMUSG00000053228

Gene Name

carcinoembryonic antigen-related cell adhesion molecule 3

Synonyms

EG384557, cea12, Psg24

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02301

Quality Score

Status

Chromosome

Chromosomal Location

17150282-17164253 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 17163101 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Phenylalanine at position 664 (S664F)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000108491]

AlphaFold

E9Q6J4

Predicted Effect

probably damaging
Transcript: ENSMUST00000065540
AA Change: S664F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000069892
Gene: ENSMUSG00000053228
AA Change: S664F

Domain	Start	End	E-Value	Type
low complexity region	14	25	N/A	INTRINSIC
IG	35	136	2.83e-3	SMART
IG	155	256	6.31e-1	SMART
IG	275	376	1.42e-3	SMART
IG	395	494	2.08e-1	SMART
IG	511	610	1.26e0	SMART
IGc2	628	692	7.64e-9	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000108491
AA Change: S664F

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

SMART Domains

Protein: ENSMUSP00000104131
Gene: ENSMUSG00000053228
AA Change: S664F

Domain	Start	End	E-Value	Type
IG	40	141	2.83e-3	SMART
IG	160	261	6.31e-1	SMART
IG	280	379	8.01e-3	SMART
IG	398	497	2.08e-1	SMART
IG	514	613	1.26e0	SMART
IGc2	631	695	7.64e-9	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap8l	A	G	17: 32,332,926		probably benign	Het
Alk	T	C	17: 71,874,176	Q1373R	probably damaging	Het
Atf7ip2	T	G	16: 10,211,047	S148A	probably benign	Het
Bpi	C	T	2: 158,274,814	S377F	probably damaging	Het
Ccni	A	T	5: 93,188,175	C122S	possibly damaging	Het
Cd5l	A	G	3: 87,365,993	R90G	probably benign	Het
Clca3a2	A	T	3: 144,806,372	D534E	probably damaging	Het
Ep400	A	T	5: 110,674,960	S2524R	probably damaging	Het
Fhdc1	G	A	3: 84,444,735	A1061V	possibly damaging	Het
Gart	A	G	16: 91,621,837		probably benign	Het
Gm9513	T	C	9: 36,477,187		probably benign	Het
Gsdmc4	A	G	15: 63,895,264	V219A	probably benign	Het
Hus1	T	C	11: 8,996,915	T261A	probably benign	Het
Lman2l	A	G	1: 36,443,543	I84T	probably damaging	Het
Megf8	G	A	7: 25,337,900	V742M	probably damaging	Het
Myo1d	A	G	11: 80,676,853	V267A	probably benign	Het
Notch2	A	G	3: 98,141,554	T1803A	probably benign	Het
Olfr1278	T	A	2: 111,292,697	M143K	probably benign	Het
Olfr23	T	A	11: 73,941,068	M274K	possibly damaging	Het
Olfr814	A	G	10: 129,874,079	F226S	probably damaging	Het
Pde5a	G	A	3: 122,760,885	R208Q	probably damaging	Het
Pla2r1	T	C	2: 60,452,436	N745S	probably benign	Het
Ptgdr2	T	A	19: 10,940,209	I30N	possibly damaging	Het
Rap1gap2	G	A	11: 74,407,369	T415I	probably damaging	Het
Slc6a6	T	C	6: 91,726,056	Y137H	probably benign	Het
Sptbn1	A	T	11: 30,142,129	D532E	probably damaging	Het
Stk39	T	C	2: 68,211,962	D543G	probably damaging	Het
Trpc4	G	A	3: 54,291,232	V526M	probably damaging	Het
Trrap	A	G	5: 144,777,917	I100V	probably benign	Het
Vmn1r-ps123	A	C	13: 22,996,357		noncoding transcript	Het
Vwa5b2	G	A	16: 20,604,790	G1151D	probably damaging	Het
Zfp358	T	A	8: 3,496,858	I480N	probably benign	Het
Zfp423	T	C	8: 87,781,574	D714G	probably damaging	Het

Other mutations in Ceacam3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01161:Ceacam3	APN	7	17151857	missense	probably benign	0.03
IGL01510:Ceacam3	APN	7	17159842	missense	probably benign	0.00
IGL01830:Ceacam3	APN	7	17155000	missense	possibly damaging	0.79
IGL02155:Ceacam3	APN	7	17162981	missense	possibly damaging	0.58
IGL02281:Ceacam3	APN	7	17161731	missense	probably benign	0.43
IGL02320:Ceacam3	APN	7	17161940	missense	probably benign	0.43
IGL02514:Ceacam3	APN	7	17162981	missense	possibly damaging	0.58
IGL02929:Ceacam3	APN	7	17158190	missense	probably damaging	1.00
IGL03143:Ceacam3	APN	7	17158120	nonsense	probably null
IGL03269:Ceacam3	APN	7	17161842	missense	probably damaging	0.99
R0408:Ceacam3	UTSW	7	17151883	critical splice donor site	probably benign
R0591:Ceacam3	UTSW	7	17151883	critical splice donor site	probably null
R1274:Ceacam3	UTSW	7	17163139	missense	probably damaging	0.98
R1376:Ceacam3	UTSW	7	17163163	missense	probably damaging	1.00
R1376:Ceacam3	UTSW	7	17163163	missense	probably damaging	1.00
R1490:Ceacam3	UTSW	7	17163146	missense	probably damaging	1.00
R1635:Ceacam3	UTSW	7	17159977	missense	probably damaging	1.00
R1769:Ceacam3	UTSW	7	17158376	missense	probably damaging	1.00
R2345:Ceacam3	UTSW	7	17155000	missense	possibly damaging	0.79
R2367:Ceacam3	UTSW	7	17151888	splice site	probably null
R2403:Ceacam3	UTSW	7	17161854	missense	probably damaging	1.00
R4030:Ceacam3	UTSW	7	17158342	missense	probably benign	0.43
R4240:Ceacam3	UTSW	7	17160024	missense	possibly damaging	0.95
R5305:Ceacam3	UTSW	7	17151576	missense	probably damaging	1.00
R5314:Ceacam3	UTSW	7	17158371	missense	possibly damaging	0.94
R5433:Ceacam3	UTSW	7	17159883	missense	possibly damaging	0.48
R5538:Ceacam3	UTSW	7	17158421	missense	probably damaging	1.00
R5638:Ceacam3	UTSW	7	17159935	missense	probably damaging	0.98
R5787:Ceacam3	UTSW	7	17155046	missense	possibly damaging	0.80
R5891:Ceacam3	UTSW	7	17151793	missense	probably damaging	1.00
R5918:Ceacam3	UTSW	7	17159745	missense	probably damaging	0.99
R6074:Ceacam3	UTSW	7	17151559	missense	probably benign	0.05
R6386:Ceacam3	UTSW	7	17158219	missense	probably benign	0.22
R6439:Ceacam3	UTSW	7	17158328	missense	possibly damaging	0.59
R6455:Ceacam3	UTSW	7	17161938	missense	possibly damaging	0.81
R7150:Ceacam3	UTSW	7	17151562	missense
R7196:Ceacam3	UTSW	7	17154956	missense
R7201:Ceacam3	UTSW	7	17158238	nonsense	probably null
R7731:Ceacam3	UTSW	7	17158350	missense
R7833:Ceacam3	UTSW	7	17159853	missense
R8202:Ceacam3	UTSW	7	17163028	missense
R8237:Ceacam3	UTSW	7	17163157	missense
R8420:Ceacam3	UTSW	7	17161683	missense
R8696:Ceacam3	UTSW	7	17160012	missense
R9381:Ceacam3	UTSW	7	17159790	missense
R9616:Ceacam3	UTSW	7	17158153	missense
R9633:Ceacam3	UTSW	7	17161763	missense
R9686:Ceacam3	UTSW	7	17158198	missense
R9727:Ceacam3	UTSW	7	17158337	missense

Posted On

2015-04-16