Mutagenetix > Incidental Mutation

Incidental Mutation 'R1819:Ceacam1'

204697

Institutional Source

Beutler Lab

Gene Symbol

Ceacam1

Ensembl Gene

ENSMUSG00000074272

Gene Name

CEA cell adhesion molecule 1

Synonyms

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

MMRRC Submission

039847-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.124) question?

Stock #

R1819 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

25161132-25177028 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 25163285 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 316 (Q316L)

Ref Sequence

ENSEMBL: ENSMUSP00000096265 (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

probably benign
Transcript: ENSMUST00000098666

SMART Domains

Protein: ENSMUSP00000096263
Gene: ENSMUSG00000074272

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

possibly damaging
Transcript: ENSMUST00000098668
AA Change: Q316L

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

SMART Domains

Protein: ENSMUSP00000096265
Gene: ENSMUSG00000074272
AA Change: Q316L

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 benign
Transcript: ENSMUST00000098669
AA Change: Q496L

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000096266
Gene: ENSMUSG00000074272
AA Change: Q496L

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 benign
Transcript: ENSMUST00000206171

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206300

Predicted Effect

probably benign
Transcript: ENSMUST00000206583

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206717

Predicted Effect

probably benign
Transcript: ENSMUST00000206676

Predicted Effect

probably benign
Transcript: ENSMUST00000206687

Meta Mutation Damage Score

0.1022

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 91.9%

Validation Efficiency

100% (91/91)

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	C	11: 109,871,882 (GRCm39)		probably null	Het
Abhd17a	T	C	10: 80,422,470 (GRCm39)	T71A	probably benign	Het
Acad11	G	A	9: 103,991,738 (GRCm39)		probably null	Het
Adgrf1	C	A	17: 43,620,924 (GRCm39)	T387K	probably benign	Het
Afdn	A	G	17: 14,071,110 (GRCm39)	T783A	probably damaging	Het
Akap13	T	A	7: 75,258,453 (GRCm39)	M359K	probably benign	Het
Asxl3	A	T	18: 22,655,433 (GRCm39)	N1148Y	probably damaging	Het
Atl1	T	C	12: 70,010,074 (GRCm39)	S547P	probably benign	Het
Bace1	A	T	9: 45,768,460 (GRCm39)	T252S	possibly damaging	Het
BC034090	A	G	1: 155,101,575 (GRCm39)	S230P	possibly damaging	Het
Bnc2	A	G	4: 84,210,111 (GRCm39)	F778L	possibly damaging	Het
Capn2	T	A	1: 182,300,162 (GRCm39)	K609N	probably benign	Het
Capn8	T	A	1: 182,426,391 (GRCm39)	I242N	probably damaging	Het
Car9	G	T	4: 43,512,439 (GRCm39)		probably null	Het
Ccdc180	A	G	4: 45,926,195 (GRCm39)	E1135G	possibly damaging	Het
Ccdc181	C	T	1: 164,110,047 (GRCm39)	Q385*	probably null	Het
Cdh10	G	T	15: 18,992,051 (GRCm39)	G437*	probably null	Het
Cecr2	A	G	6: 120,708,228 (GRCm39)	T77A	probably damaging	Het
Cers4	T	A	8: 4,571,232 (GRCm39)	M267K	probably benign	Het
Csmd3	T	C	15: 47,617,131 (GRCm39)	D1930G	possibly damaging	Het
Cyp2j11	A	T	4: 96,185,976 (GRCm39)	V403D	probably damaging	Het
Cyp4v3	G	A	8: 45,768,673 (GRCm39)	R296C	possibly damaging	Het
Ddx59	A	G	1: 136,360,245 (GRCm39)	I420V	probably damaging	Het
Dnah5	T	A	15: 28,246,546 (GRCm39)	L628*	probably null	Het
Dnah7a	A	C	1: 53,598,307 (GRCm39)	D1409E	probably benign	Het
Dus2	T	A	8: 106,778,480 (GRCm39)	W377R	probably damaging	Het
E330034G19Rik	A	G	14: 24,348,081 (GRCm39)	D111G	probably damaging	Het
Erich4	C	T	7: 25,314,715 (GRCm39)	R66Q	possibly damaging	Het
Fcgbp	G	T	7: 27,784,708 (GRCm39)	R256L	probably benign	Het
Fdxr	A	T	11: 115,166,930 (GRCm39)	F53Y	probably damaging	Het
Fkbp10	G	T	11: 100,306,715 (GRCm39)	A36S	probably benign	Het
Foxo3	A	T	10: 42,073,607 (GRCm39)	D84E	probably benign	Het
Gin1	A	G	1: 97,712,951 (GRCm39)		probably null	Het
Gli3	C	T	13: 15,900,377 (GRCm39)	Q1255*	probably null	Het
Gm4847	T	A	1: 166,465,788 (GRCm39)	H267L	probably damaging	Het
Gpr171	T	C	3: 59,005,341 (GRCm39)	I145V	probably benign	Het
Gpr68	T	A	12: 100,844,662 (GRCm39)	H294L	possibly damaging	Het
Gys2	T	C	6: 142,406,912 (GRCm39)	E148G	probably damaging	Het
Heatr5b	T	C	17: 79,098,940 (GRCm39)	D1320G	probably damaging	Het
Ifnlr1	G	T	4: 135,413,834 (GRCm39)		probably benign	Het
Ift88	G	A	14: 57,692,976 (GRCm39)	E392K	probably damaging	Het
Igsf9b	T	A	9: 27,222,889 (GRCm39)	S97T	probably damaging	Het
Il18rap	A	G	1: 40,570,687 (GRCm39)	I210V	probably benign	Het
Kcnj11	C	T	7: 45,748,580 (GRCm39)	G248S	probably benign	Het
Kif28	T	C	1: 179,533,319 (GRCm39)	K541E	possibly damaging	Het
Lilrb4a	A	G	10: 51,372,124 (GRCm39)	Y205C	probably damaging	Het
Lima1	T	A	15: 99,717,817 (GRCm39)	H63L	probably benign	Het
Lonrf3	A	G	X: 35,622,361 (GRCm39)	I687V	probably damaging	Het
Lrba	A	G	3: 86,449,941 (GRCm39)	T2099A	possibly damaging	Het
Morn5	C	T	2: 35,942,987 (GRCm39)	T29M	probably damaging	Het
Neurl1b	G	A	17: 26,657,674 (GRCm39)	R22H	probably benign	Het
Nr2e3	T	C	9: 59,850,720 (GRCm39)	I380V	probably damaging	Het
Oas1c	G	A	5: 120,946,800 (GRCm39)	A10V	possibly damaging	Het
Or1e35	T	C	11: 73,797,505 (GRCm39)	E271G	probably benign	Het
Or52e8	C	T	7: 104,624,605 (GRCm39)	V196I	probably benign	Het
P3h3	T	C	6: 124,831,895 (GRCm39)	T297A	probably benign	Het
Pdpk1	T	C	17: 24,329,878 (GRCm39)	K53E	probably damaging	Het
Plec	C	T	15: 76,064,106 (GRCm39)	R2056Q	probably damaging	Het
Plxna2	T	A	1: 194,472,494 (GRCm39)	N1079K	probably benign	Het
Prr12	G	C	7: 44,698,121 (GRCm39)		probably benign	Het
Psip1	A	G	4: 83,376,400 (GRCm39)	S480P	probably benign	Het
Ptpre	A	G	7: 135,270,722 (GRCm39)		probably benign	Het
Pvalb	A	C	15: 78,086,784 (GRCm39)	V44G	probably damaging	Het
Rab3c	T	G	13: 110,220,669 (GRCm39)	Q164P	possibly damaging	Het
Rubcn	T	C	16: 32,647,284 (GRCm39)	K703R	possibly damaging	Het
Setd7	T	G	3: 51,450,060 (GRCm39)	H122P	probably benign	Het
Slc26a8	A	T	17: 28,903,808 (GRCm39)	F19I	probably benign	Het
Slc6a14	A	G	X: 21,607,286 (GRCm39)	D625G	probably benign	Het
Snx6	C	T	12: 54,830,259 (GRCm39)	V67I	possibly damaging	Het
Syngr3	A	G	17: 24,906,696 (GRCm39)	F40L	possibly damaging	Het
Syt8	G	A	7: 141,991,971 (GRCm39)	G21R	possibly damaging	Het
Tagln	A	G	9: 45,842,138 (GRCm39)	F152L	probably benign	Het
Tcf12	G	A	9: 72,016,999 (GRCm39)	T36M	probably damaging	Het
Tdrd6	C	T	17: 43,937,442 (GRCm39)	S1202N	probably benign	Het
Tekt2	T	C	4: 126,217,529 (GRCm39)	K179E	probably damaging	Het
Tekt4	G	T	17: 25,692,785 (GRCm39)		probably null	Het
Tmprss5	G	T	9: 49,018,464 (GRCm39)	R98L	probably benign	Het
Tns1	G	T	1: 73,955,635 (GRCm39)		probably benign	Het
Tpcn1	A	C	5: 120,674,292 (GRCm39)		probably null	Het
Ttc6	T	C	12: 57,741,286 (GRCm39)		probably null	Het
Ttf1	A	G	2: 28,964,796 (GRCm39)	N706S	possibly damaging	Het
Washc4	C	T	10: 83,386,748 (GRCm39)	T124I	probably benign	Het
Wdr17	A	T	8: 55,143,159 (GRCm39)	S140T	probably benign	Het
Wdr19	A	T	5: 65,370,234 (GRCm39)	I123F	possibly damaging	Het
Zer1	C	T	2: 30,000,230 (GRCm39)	A317T	probably benign	Het
Zfp474	A	G	18: 52,771,872 (GRCm39)	D175G	probably damaging	Het
Zfp598	T	C	17: 24,900,104 (GRCm39)		probably benign	Het
Zfp646	G	A	7: 127,482,292 (GRCm39)	G1490S	probably benign	Het
Zranb3	A	T	1: 127,945,293 (GRCm39)		probably null	Het

Other mutations in Ceacam1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00701:Ceacam1	APN	7	25,171,339 (GRCm39)	missense	possibly damaging	0.86
IGL01766:Ceacam1	APN	7	25,171,420 (GRCm39)	missense	probably damaging	1.00
IGL02094:Ceacam1	APN	7	25,173,968 (GRCm39)	missense	probably damaging	1.00
IGL02869:Ceacam1	APN	7	25,175,966 (GRCm39)	missense	probably benign	0.07
IGL03325:Ceacam1	APN	7	25,175,912 (GRCm39)	missense	possibly damaging	0.83
PIT4445001:Ceacam1	UTSW	7	25,175,881 (GRCm39)	missense	probably damaging	1.00
PIT4810001:Ceacam1	UTSW	7	25,171,400 (GRCm39)	missense	probably damaging	1.00
R0464:Ceacam1	UTSW	7	25,171,442 (GRCm39)	missense	possibly damaging	0.64
R1270:Ceacam1	UTSW	7	25,165,739 (GRCm39)	splice site	probably null
R1771:Ceacam1	UTSW	7	25,171,469 (GRCm39)	missense	probably benign	0.17
R1964:Ceacam1	UTSW	7	25,174,133 (GRCm39)	missense	probably benign	0.13
R2048:Ceacam1	UTSW	7	25,176,113 (GRCm39)	missense	probably benign	0.09
R2760:Ceacam1	UTSW	7	25,176,899 (GRCm39)	missense	probably damaging	0.99
R2857:Ceacam1	UTSW	7	25,173,442 (GRCm39)	missense	probably damaging	0.96
R2859:Ceacam1	UTSW	7	25,173,442 (GRCm39)	missense	probably damaging	0.96
R3546:Ceacam1	UTSW	7	25,171,339 (GRCm39)	missense	probably benign	0.07
R4471:Ceacam1	UTSW	7	25,174,025 (GRCm39)	missense	possibly damaging	0.93
R4606:Ceacam1	UTSW	7	25,173,951 (GRCm39)	missense	probably damaging	0.97
R4810:Ceacam1	UTSW	7	25,173,945 (GRCm39)	makesense	probably null
R5291:Ceacam1	UTSW	7	25,171,256 (GRCm39)	missense	probably damaging	0.99
R5405:Ceacam1	UTSW	7	25,163,290 (GRCm39)	missense	probably benign	0.41
R5423:Ceacam1	UTSW	7	25,173,951 (GRCm39)	missense	probably benign	0.01
R5851:Ceacam1	UTSW	7	25,174,025 (GRCm39)	missense	possibly damaging	0.70
R5967:Ceacam1	UTSW	7	25,174,167 (GRCm39)	missense	probably damaging	0.97
R6216:Ceacam1	UTSW	7	25,171,421 (GRCm39)	missense	probably benign	0.19
R6235:Ceacam1	UTSW	7	25,171,217 (GRCm39)	splice site	probably null
R6323:Ceacam1	UTSW	7	25,174,076 (GRCm39)	missense	probably damaging	1.00
R6545:Ceacam1	UTSW	7	25,173,279 (GRCm39)	missense	probably damaging	1.00
R7371:Ceacam1	UTSW	7	25,174,145 (GRCm39)	missense	possibly damaging	0.95
R7760:Ceacam1	UTSW	7	25,171,450 (GRCm39)	missense	probably damaging	1.00
R7790:Ceacam1	UTSW	7	25,173,375 (GRCm39)	missense	probably damaging	1.00
R7869:Ceacam1	UTSW	7	25,175,954 (GRCm39)	missense	probably damaging	0.97
R7934:Ceacam1	UTSW	7	25,163,220 (GRCm39)	missense	possibly damaging	0.68
R8189:Ceacam1	UTSW	7	25,173,343 (GRCm39)	missense	probably damaging	0.96
R8907:Ceacam1	UTSW	7	25,171,444 (GRCm39)	missense	possibly damaging	0.88
R8967:Ceacam1	UTSW	7	25,163,297 (GRCm39)	missense	possibly damaging	0.48
R9055:Ceacam1	UTSW	7	25,171,299 (GRCm39)	missense	probably damaging	1.00
R9149:Ceacam1	UTSW	7	25,173,360 (GRCm39)	missense	possibly damaging	0.94
R9529:Ceacam1	UTSW	7	25,171,231 (GRCm39)	missense	possibly damaging	0.92
X0028:Ceacam1	UTSW	7	25,175,845 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTCTGTAGGCTCCAGGATCC -3'
(R):5'- ACATCCTCGCACACATCTGG -3'

Sequencing Primer
(F):5'- TTCTTCTATAGACACTGAAGGAGTC -3'
(R):5'- GCACACATCTGGCTTTCATTCTG -3'

Posted On

2014-06-23