Mutagenetix > Incidental Mutation

Incidental Mutation 'R5368:Ceacam18'

429478

Institutional Source

Beutler Lab

Gene Symbol

Ceacam18

Ensembl Gene

ENSMUSG00000030472

Gene Name

CEA cell adhesion molecule 18

Synonyms

2010110O04Rik

MMRRC Submission

043204-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

R5368 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

43284131-43298719 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 43291458 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 300 (V300A)

Ref Sequence

ENSEMBL: ENSMUSP00000032663 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032663]

AlphaFold

Q9D871

Predicted Effect

probably benign
Transcript: ENSMUST00000032663
AA Change: V300A

PolyPhen 2 Score 0.083 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000032663
Gene: ENSMUSG00000030472
AA Change: V300A

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
IG_like	36	135	1.03e2	SMART
IG_like	148	226	5.56e0	SMART
IGc2	248	305	5.24e-7	SMART
transmembrane domain	334	356	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

97% (61/63)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933402N03Rik	T	A	7: 130,740,925 (GRCm39)	H97L	possibly damaging	Het
Abca9	T	A	11: 110,036,372 (GRCm39)	N579I	probably damaging	Het
Acbd3	A	T	1: 180,549,660 (GRCm39)		probably benign	Het
Ankrd50	A	T	3: 38,509,199 (GRCm39)	I1056N	probably damaging	Het
Cfap46	C	A	7: 139,207,389 (GRCm39)	R1843S	possibly damaging	Het
D430041D05Rik	A	G	2: 104,078,629 (GRCm39)	V1229A	probably damaging	Het
Dbx2	G	A	15: 95,538,522 (GRCm39)	S206L	probably benign	Het
Dnah11	A	T	12: 117,918,628 (GRCm39)	D1530E	probably damaging	Het
Ecm2	A	C	13: 49,674,419 (GRCm39)	T280P	probably benign	Het
Emc2	G	A	15: 43,375,207 (GRCm39)		probably null	Het
Epb42	C	T	2: 120,849,943 (GRCm39)	V689I	probably benign	Het
Fam114a1	T	A	5: 65,163,452 (GRCm39)	M209K	possibly damaging	Het
Fam117a	C	T	11: 95,266,459 (GRCm39)	S193F	probably damaging	Het
Foxp2	A	T	6: 15,377,913 (GRCm39)		probably benign	Het
Frmd6	T	A	12: 70,910,874 (GRCm39)	C19*	probably null	Het
Fyb1	A	G	15: 6,610,159 (GRCm39)		probably null	Het
Gata6	C	A	18: 11,063,059 (GRCm39)	H442Q	possibly damaging	Het
Gldc	A	G	19: 30,135,921 (GRCm39)	S160P	probably benign	Het
Gm3952	A	G	8: 129,472,455 (GRCm39)	S1626P	possibly damaging	Het
Gm9762	T	A	3: 78,873,742 (GRCm39)		noncoding transcript	Het
Gtpbp2	T	C	17: 46,477,230 (GRCm39)		probably benign	Het
Hgd	A	T	16: 37,410,113 (GRCm39)	T50S	probably benign	Het
Itpr1	C	T	6: 108,364,459 (GRCm39)	T22M	probably damaging	Het
Kif26b	G	A	1: 178,743,449 (GRCm39)	E1182K	probably damaging	Het
Kirrel3	A	G	9: 34,919,034 (GRCm39)	E230G	probably damaging	Het
Leng8	A	G	7: 4,142,987 (GRCm39)	Y88C	probably damaging	Het
Lpo	T	C	11: 87,711,895 (GRCm39)	D54G	possibly damaging	Het
Lypd2	G	T	15: 74,604,908 (GRCm39)	A29E	probably benign	Het
Mdn1	C	T	4: 32,723,690 (GRCm39)	P2542L	probably damaging	Het
Mical3	T	C	6: 120,936,434 (GRCm39)	Y1364C	probably damaging	Het
Mroh2b	A	G	15: 4,935,054 (GRCm39)	N163S	probably damaging	Het
Mtf1	G	A	4: 124,718,872 (GRCm39)	C295Y	probably damaging	Het
Nbn	T	A	4: 15,969,391 (GRCm39)	L212Q	probably damaging	Het
Obscn	A	T	11: 58,959,852 (GRCm39)		probably null	Het
Or10ag56	T	A	2: 87,139,126 (GRCm39)		probably null	Het
Or4c110	A	G	2: 88,832,435 (GRCm39)	S66P	probably damaging	Het
Peli1	A	G	11: 21,098,389 (GRCm39)	T375A	probably damaging	Het
Picalm	T	C	7: 89,856,803 (GRCm39)	*611Q	probably null	Het
Plch1	G	T	3: 63,609,394 (GRCm39)	Q938K	possibly damaging	Het
Plxnb2	A	G	15: 89,043,796 (GRCm39)	V1352A	possibly damaging	Het
Pmepa1	G	A	2: 173,070,115 (GRCm39)	R147W	probably damaging	Het
Prdm16	T	G	4: 154,429,848 (GRCm39)	K373Q	probably damaging	Het
Qki	T	G	17: 10,457,964 (GRCm39)	E135A	probably damaging	Het
Rad50	T	C	11: 53,575,073 (GRCm39)	K556E	probably benign	Het
Scara5	CG	C	14: 65,997,111 (GRCm39)		probably null	Het
Sin3a	T	A	9: 57,018,084 (GRCm39)	D834E	possibly damaging	Het
Smg8	G	A	11: 86,971,086 (GRCm39)	S895L	probably benign	Het
Sorl1	T	C	9: 41,890,686 (GRCm39)	I1944M	probably benign	Het
Stam2	G	A	2: 52,626,305 (GRCm39)		probably benign	Het
Tmprss7	A	T	16: 45,481,252 (GRCm39)	W645R	probably damaging	Het
Tns1	T	C	1: 73,980,176 (GRCm39)	M1111V	probably benign	Het
Ttn	A	C	2: 76,608,726 (GRCm39)	D17763E	probably damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Ubr4	G	A	4: 139,124,839 (GRCm39)		probably benign	Het
Usp31	T	C	7: 121,260,588 (GRCm39)	H637R	probably damaging	Het
Vps50	A	C	6: 3,567,739 (GRCm39)	E545A	possibly damaging	Het
Wdfy3	G	T	5: 102,020,724 (GRCm39)	L2527M	probably damaging	Het
Wfdc2	T	C	2: 164,405,354 (GRCm39)	V85A	possibly damaging	Het

Other mutations in Ceacam18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00426:Ceacam18	APN	7	43,288,780 (GRCm39)	missense	probably benign	0.00
IGL00585:Ceacam18	APN	7	43,286,435 (GRCm39)	missense	possibly damaging	0.90
IGL01669:Ceacam18	APN	7	43,294,939 (GRCm39)	missense	probably damaging	1.00
R0001:Ceacam18	UTSW	7	43,286,300 (GRCm39)	missense	possibly damaging	0.58
R0227:Ceacam18	UTSW	7	43,288,815 (GRCm39)	missense	probably damaging	1.00
R1524:Ceacam18	UTSW	7	43,288,779 (GRCm39)	missense	possibly damaging	0.95
R1647:Ceacam18	UTSW	7	43,288,689 (GRCm39)	missense	possibly damaging	0.78
R1768:Ceacam18	UTSW	7	43,297,918 (GRCm39)	missense	probably benign	0.00
R1828:Ceacam18	UTSW	7	43,288,880 (GRCm39)	missense	probably benign	0.19
R3751:Ceacam18	UTSW	7	43,291,372 (GRCm39)	missense	probably damaging	1.00
R4870:Ceacam18	UTSW	7	43,291,328 (GRCm39)	missense	probably damaging	1.00
R5259:Ceacam18	UTSW	7	43,286,536 (GRCm39)	critical splice donor site	probably null
R5358:Ceacam18	UTSW	7	43,286,497 (GRCm39)	missense	possibly damaging	0.57
R5810:Ceacam18	UTSW	7	43,286,382 (GRCm39)	missense	probably benign	0.00
R5817:Ceacam18	UTSW	7	43,291,265 (GRCm39)	missense	probably benign	0.07
R5835:Ceacam18	UTSW	7	43,286,382 (GRCm39)	missense	probably benign	0.00
R7113:Ceacam18	UTSW	7	43,291,400 (GRCm39)	missense	probably benign
R7138:Ceacam18	UTSW	7	43,288,706 (GRCm39)	missense	possibly damaging	0.80
R7275:Ceacam18	UTSW	7	43,291,308 (GRCm39)	missense	probably damaging	1.00
R7502:Ceacam18	UTSW	7	43,286,298 (GRCm39)	missense	probably damaging	0.99
R8849:Ceacam18	UTSW	7	43,294,967 (GRCm39)	missense	probably benign	0.00
R9119:Ceacam18	UTSW	7	43,288,909 (GRCm39)	missense	probably benign
R9347:Ceacam18	UTSW	7	43,294,915 (GRCm39)	missense	possibly damaging	0.70
R9663:Ceacam18	UTSW	7	43,288,764 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTCACTGTCTCTGCAGATGG -3'
(R):5'- TCCCTTCATGTCACCAGAGG -3'

Sequencing Primer
(F):5'- CTCTGCAGATGGTCCAGACTATG -3'
(R):5'- CTTCATGTCACCAGAGGCTGTG -3'

Posted On

2016-09-06