Mutagenetix > Incidental Mutations

Incidental Mutation 'R5433:Ceacam3'

428152

Institutional Source

Beutler Lab

Gene Symbol

Ceacam3

Ensembl Gene

ENSMUSG00000053228

Gene Name

carcinoembryonic antigen-related cell adhesion molecule 3

Synonyms

EG384557, cea12, Psg24

MMRRC Submission

042998-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5433 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

17150282-17164253 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 17159883 bp

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 440 (A440T)

Ref Sequence

ENSEMBL: ENSMUSP00000104131 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000065540
AA Change: A440T

PolyPhen 2 Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000069892
Gene: ENSMUSG00000053228
AA Change: A440T

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

possibly damaging
Transcript: ENSMUST00000108491
AA Change: A440T

PolyPhen 2 Score 0.480 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000104131
Gene: ENSMUSG00000053228
AA Change: A440T

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.8%

Validation Efficiency

100% (58/58)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019D03Rik	T	C	1: 52,925,498	S24G	probably damaging	Het
1810064F22Rik	A	G	9: 22,207,743		noncoding transcript	Het
Aacs	A	T	5: 125,515,014	M589L	probably benign	Het
Adamts8	A	C	9: 30,961,716	H739P	probably benign	Het
Atp8b2	T	C	3: 89,952,909		probably benign	Het
BC030500	A	G	8: 58,913,009		probably benign	Het
Btnl9	T	A	11: 49,176,003		probably benign	Het
Cd74	G	T	18: 60,807,921	A31S	probably benign	Het
Ces1d	G	A	8: 93,186,036	T258I	probably benign	Het
Col10a1	A	G	10: 34,390,739		probably benign	Het
Coro1b	C	T	19: 4,153,450	A430V	probably benign	Het
Cyp2c65	A	T	19: 39,093,484	I485L	probably benign	Het
Dio1	A	T	4: 107,306,780		probably benign	Het
Dmxl1	G	A	18: 49,867,899		probably null	Het
Elp6	A	G	9: 110,315,783	Y136C	probably damaging	Het
Gm1966	T	A	7: 106,600,107		noncoding transcript	Het
Gon4l	A	T	3: 88,896,225	Q1382L	possibly damaging	Het
Guca1a	T	C	17: 47,400,370	E17G	probably damaging	Het
Gucy2d	G	A	7: 98,449,775	G267E	probably damaging	Het
Hspg2	T	A	4: 137,528,794		probably null	Het
Il1a	G	T	2: 129,307,901	D26E	possibly damaging	Het
Iltifb	T	A	10: 118,294,884	I36F	probably damaging	Het
Kcna1	A	T	6: 126,643,112	F82I	probably damaging	Het
Klhl18	G	C	9: 110,436,127	N335K	possibly damaging	Het
Lamtor5	T	G	3: 107,282,007	C120G	probably benign	Het
Lars	A	G	18: 42,251,298	C72R	possibly damaging	Het
Lrrfip1	T	G	1: 91,087,126		probably null	Het
Mapkapk3	T	C	9: 107,256,292	D349G	probably damaging	Het
Mknk2	A	T	10: 80,667,225	I421N	probably benign	Het
Myh6	A	G	14: 54,953,924	I820T	probably benign	Het
Notch2	T	G	3: 98,126,134	V1182G	probably damaging	Het
Olfr1	AGCGGTCGTAGGC	AGC	11: 73,395,654		probably null	Het
Olfr30	C	T	11: 58,455,854	V32M	probably damaging	Het
Olfr366	T	G	2: 37,219,672	F61C	probably damaging	Het
Ppfia4	A	T	1: 134,317,894	S641T	probably damaging	Het
Prok1	T	A	3: 107,239,633	H6L	probably benign	Het
Ptprm	A	T	17: 66,693,473	V1172E	probably damaging	Het
Rasal3	C	T	17: 32,393,601	R762Q	probably benign	Het
Rgs20	G	T	1: 5,070,110	A23E	possibly damaging	Het
Rprd1a	T	C	18: 24,507,231	T163A	probably benign	Het
Rrm1	A	T	7: 102,465,767	N37I	probably damaging	Het
Shc4	T	A	2: 125,639,430	E520V	probably damaging	Het
Slc14a2	G	T	18: 78,208,928	P56Q	probably damaging	Het
Slc22a3	C	T	17: 12,458,490	G264S	probably damaging	Het
Svil	A	G	18: 5,059,294	E770G	probably damaging	Het
Svop	A	G	5: 114,060,125	V129A	probably damaging	Het
Szt2	A	T	4: 118,375,466		probably benign	Het
Tcof1	T	C	18: 60,818,033		probably benign	Het
Tctex1d1	A	G	4: 103,002,503	E84G	possibly damaging	Het
Tmem30a	T	A	9: 79,780,648	I80F	probably damaging	Het
Vmn2r16	G	T	5: 109,363,842	L638F	probably damaging	Het
Xkr7	T	A	2: 153,054,324	I366N	probably damaging	Het
Zer1	A	G	2: 30,100,986		probably benign	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
IGL02301:Ceacam3	APN	7	17163101	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- TGATCCCATGTGGTGACTTTTC -3'
(R):5'- CAGCTGGAAGCCATAGAGAGTC -3'

Sequencing Primer
(F):5'- AGCCTCCTTTTCCACGTG -3'
(R):5'- CTGGAAGCCATAGAGAGTCACTTAC -3'

Posted On

2016-09-01