Mutagenetix > Incidental Mutation

Incidental Mutation 'R4606:Ceacam1'

346016

Institutional Source

Beutler Lab

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

MMRRC Submission

041817-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.083) question?

Stock #

R4606 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

25461707-25477603 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 25474526 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 235 (I235F)

Ref Sequence

ENSEMBL: ENSMUSP00000096266 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000098666
AA Change: I235F

PolyPhen 2 Score 0.682 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000096263
Gene: ENSMUSG00000074272
AA Change: I235F

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

probably damaging
Transcript: ENSMUST00000098669
AA Change: I235F

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000096266
Gene: ENSMUSG00000074272
AA Change: I235F

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

possibly damaging
Transcript: ENSMUST00000206171
AA Change: I235F

PolyPhen 2 Score 0.682 (Sensitivity: 0.86; Specificity: 0.92)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206300

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206483

Predicted Effect

possibly damaging
Transcript: ENSMUST00000206583
AA Change: I235F

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000206676
AA Change: I235F

PolyPhen 2 Score 0.723 (Sensitivity: 0.86; Specificity: 0.92)

Predicted Effect

probably benign
Transcript: ENSMUST00000206687

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206717

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206981

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

96% (69/72)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011L22Rik	A	T	8: 79,210,745	W178R	probably benign	Het
Abcb5	T	C	12: 118,932,610		probably null	Het
Akr1b3	C	A	6: 34,306,664		probably benign	Het
Arid1a	A	G	4: 133,687,323	F1199S	unknown	Het
Atp4b	A	G	8: 13,389,998	F116S	probably damaging	Het
Atp6v1b1	T	C	6: 83,752,461	S127P	probably damaging	Het
Blk	C	T	14: 63,374,203	V428I	probably benign	Het
C87414	A	T	5: 93,636,602	D137E	probably damaging	Het
Ccser1	T	C	6: 61,311,584	S244P	probably damaging	Het
Cyp2g1	T	A	7: 26,814,154	Y173N	possibly damaging	Het
Ddr2	T	A	1: 170,001,852	I278F	probably benign	Het
Degs1	T	C	1: 182,276,823	D299G	probably damaging	Het
Dip2b	G	A	15: 100,215,329	V1542I	possibly damaging	Het
Dmxl1	T	A	18: 49,962,181	S2942R	probably damaging	Het
Dpf1	T	A	7: 29,316,590		probably benign	Het
Ephb6	A	G	6: 41,616,574	Y518C	probably benign	Het
Eps15l1	A	T	8: 72,373,916	F606I	possibly damaging	Het
Extl1	A	G	4: 134,371,379	S114P	probably damaging	Het
Extl1	A	C	4: 134,371,380	D113E	probably benign	Het
Fat1	T	C	8: 44,950,683	V157A	possibly damaging	Het
Fcho1	A	T	8: 71,712,480	D444E	probably benign	Het
Fgd3	T	A	13: 49,296,560	D71V	probably damaging	Het
Fgd5	T	A	6: 91,988,209	D316E	possibly damaging	Het
Gys2	A	T	6: 142,454,484	F334I	possibly damaging	Het
Ik	G	T	18: 36,753,555	R360L	possibly damaging	Het
Kazn	A	C	4: 142,118,288		probably null	Het
Kmt2d	A	T	15: 98,839,716		probably benign	Het
Krr1	T	C	10: 111,975,677		probably benign	Het
Krt83	C	T	15: 101,487,049	E389K	probably benign	Het
Lrrc4c	T	C	2: 97,630,313	V428A	probably benign	Het
Lvrn	C	A	18: 46,864,765	T260K	possibly damaging	Het
Mcc	C	T	18: 44,468,421	E614K	probably damaging	Het
Msrb3	A	T	10: 120,849,997	V81D	probably damaging	Het
Muc19	C	T	15: 91,934,383		noncoding transcript	Het
Myadm	T	A	7: 3,297,400	L226*	probably null	Het
Myof	C	T	19: 37,967,099	V526M	probably damaging	Het
Nckap5l	A	G	15: 99,429,323		probably benign	Het
Olfr1010	T	A	2: 85,753,940		probably benign	Het
Olfr1260	C	A	2: 89,978,006	A76D	possibly damaging	Het
Olfr1270	G	T	2: 90,148,816		probably benign	Het
Olfr398	A	G	11: 73,983,892	S239P	probably damaging	Het
Pars2	T	C	4: 106,654,050	V307A	probably benign	Het
Pcdhb1	T	G	18: 37,265,528	Y177*	probably null	Het
Pcdhb4	T	A	18: 37,308,652	D338E	probably damaging	Het
Pik3r2	G	A	8: 70,772,136	R199*	probably null	Het
Pla2g4f	C	T	2: 120,313,986	R24Q	probably benign	Het
Pnma2	T	C	14: 66,916,232	I35T	probably benign	Het
Podn	C	A	4: 108,017,867	A568S	probably benign	Het
Pou3f1	A	T	4: 124,658,836	E377V	probably damaging	Het
Ppfia1	T	C	7: 144,485,192	D494G	probably damaging	Het
Ptpn9	A	T	9: 57,022,211	T71S	possibly damaging	Het
Ptprz1	C	T	6: 23,001,487	P1192L	possibly damaging	Het
Rnd2	C	T	11: 101,468,999	L57F	probably damaging	Het
Rnf217	T	A	10: 31,517,476	K370*	probably null	Het
Rpap2	G	A	5: 107,601,795	V62I	possibly damaging	Het
Scaper	A	T	9: 55,655,903		probably null	Het
Sos2	T	C	12: 69,614,606		probably benign	Het
Sptbn5	C	T	2: 120,067,446		probably null	Het
Sumo1	A	G	1: 59,644,509		probably benign	Het
Syne2	C	A	12: 75,989,253	N3771K	probably damaging	Het
Tbx18	T	C	9: 87,730,769	I26V	possibly damaging	Het
Trpm3	T	A	19: 22,978,624	M1140K	probably benign	Het
Usp29	G	A	7: 6,963,357		probably null	Het
Wdr7	C	T	18: 63,779,945	Q946*	probably null	Het
Ythdf1	T	C	2: 180,912,182	D46G	probably damaging	Het
Zfp217	T	C	2: 170,119,750	N219S	possibly damaging	Het
Zkscan3	A	G	13: 21,393,783	I256T	probably benign	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
IGL02094:Ceacam1	APN	7	25474543	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
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
R8907:Ceacam1	UTSW	7	25472019	missense	possibly damaging	0.88
R8967:Ceacam1	UTSW	7	25463872	missense	possibly damaging	0.48
R9055:Ceacam1	UTSW	7	25471874	missense	probably damaging	1.00
R9149:Ceacam1	UTSW	7	25473935	missense	possibly damaging	0.94
R9529:Ceacam1	UTSW	7	25471806	missense	possibly damaging	0.92
X0028:Ceacam1	UTSW	7	25476420	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CATTCTAGCTCAGGACTGCG -3'
(R):5'- ACTCCGTATCATTAACCTGTGAC -3'

Sequencing Primer
(F):5'- ACTGCGCCTGGCTTCATG -3'
(R):5'- AACCTGTGACTCTTACACTGAC -3'

Posted On

2015-09-25