Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01669:Ceacam18'

List |< first << previous [record 9 of 41] next >> last >|

103402

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ceacam18

Ensembl Gene

ENSMUSG00000030472

Gene Name

carcinoembryonic antigen-related cell adhesion molecule 18

Synonyms

2010110O04Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

IGL01669

Quality Score

Status

Chromosome

Chromosomal Location

43634707-43649295 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 43645515 bp

Zygosity

Heterozygous

Amino Acid Change

Glycine to Glutamic Acid at position 333 (G333E)

Ref Sequence

ENSEMBL: ENSMUSP00000032663 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000032663
AA Change: G333E

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

SMART Domains

Protein: ENSMUSP00000032663
Gene: ENSMUSG00000030472
AA Change: G333E

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl4	G	T	X: 142,343,188	D313E	probably damaging	Het
Aifm3	A	C	16: 17,503,541	K453T	probably benign	Het
Anks1b	T	C	10: 90,897,238		probably benign	Het
Arfgef1	T	C	1: 10,159,615	D1287G	probably damaging	Het
Bcl3	G	A	7: 19,812,491	Q140*	probably null	Het
Bnipl	T	G	3: 95,242,734	R316S	probably damaging	Het
Cacna1i	T	A	15: 80,391,757	H1916Q	probably benign	Het
Ccdc171	C	T	4: 83,681,195	A749V	probably damaging	Het
Cul7	G	T	17: 46,658,715	M969I	possibly damaging	Het
Cylc2	A	G	4: 51,228,360	T144A	probably benign	Het
Cyp2c50	A	T	19: 40,098,051	H294L	probably damaging	Het
D430041D05Rik	T	C	2: 104,254,961	K1081R	probably damaging	Het
D930020B18Rik	A	G	10: 121,683,961	K456R	probably benign	Het
Drd2	A	G	9: 49,402,089	N186S	possibly damaging	Het
Fanci	A	T	7: 79,449,177	E1306D	probably benign	Het
Fbxl21	T	A	13: 56,527,709		probably benign	Het
Galk2	T	A	2: 125,887,887	Y63N	probably damaging	Het
Git2	T	C	5: 114,767,105	D97G	probably damaging	Het
Gm8258	T	A	5: 104,776,074		noncoding transcript	Het
Irf4	G	T	13: 30,757,471	S270I	probably damaging	Het
Itgb3	C	A	11: 104,633,390		probably benign	Het
Itpr2	A	C	6: 146,180,229	I2299R	probably damaging	Het
Lig4	T	C	8: 9,973,673	I36V	probably benign	Het
Nedd9	A	G	13: 41,338,635	V133A	probably damaging	Het
Nup133	A	C	8: 123,939,130	Y185*	probably null	Het
Olfr1162	T	C	2: 88,049,784	Y280C	possibly damaging	Het
Olfr623	A	T	7: 103,660,987	F88I	probably benign	Het
Olfr788	A	G	10: 129,473,211	H173R	probably damaging	Het
Pgbd5	T	A	8: 124,374,399	T373S	possibly damaging	Het
Ppp1r8	T	C	4: 132,828,169	E246G	probably benign	Het
Rmnd5b	C	T	11: 51,627,900	V89M	probably damaging	Het
Rnf123	T	C	9: 108,058,356	I969V	probably damaging	Het
Ror2	A	G	13: 53,111,088	I656T	probably damaging	Het
Sgsm1	T	C	5: 113,263,490	E503G	probably benign	Het
Smgc	T	A	15: 91,860,684	S381T	possibly damaging	Het
Tlr4	T	G	4: 66,841,267	F766V	possibly damaging	Het
Tnc	T	C	4: 64,000,701	T1162A	probably damaging	Het
Usp39	A	G	6: 72,338,493	V156A	probably damaging	Het
Zdhhc5	A	G	2: 84,691,194	Y352H	probably damaging	Het
Zfp646	A	G	7: 127,878,965	T105A	probably benign	Het

Other mutations in Ceacam18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00426:Ceacam18	APN	7	43639356	missense	probably benign	0.00
IGL00585:Ceacam18	APN	7	43637011	missense	possibly damaging	0.90
R0001:Ceacam18	UTSW	7	43636876	missense	possibly damaging	0.58
R0227:Ceacam18	UTSW	7	43639391	missense	probably damaging	1.00
R1524:Ceacam18	UTSW	7	43639355	missense	possibly damaging	0.95
R1647:Ceacam18	UTSW	7	43639265	missense	possibly damaging	0.78
R1768:Ceacam18	UTSW	7	43648494	missense	probably benign	0.00
R1828:Ceacam18	UTSW	7	43639456	missense	probably benign	0.19
R3751:Ceacam18	UTSW	7	43641948	missense	probably damaging	1.00
R4870:Ceacam18	UTSW	7	43641904	missense	probably damaging	1.00
R5259:Ceacam18	UTSW	7	43637112	critical splice donor site	probably null
R5358:Ceacam18	UTSW	7	43637073	missense	possibly damaging	0.57
R5368:Ceacam18	UTSW	7	43642034	missense	probably benign	0.08
R5810:Ceacam18	UTSW	7	43636958	missense	probably benign	0.00
R5817:Ceacam18	UTSW	7	43641841	missense	probably benign	0.07
R5835:Ceacam18	UTSW	7	43636958	missense	probably benign	0.00
R7113:Ceacam18	UTSW	7	43641976	missense	probably benign
R7138:Ceacam18	UTSW	7	43639282	missense	possibly damaging	0.80
R7275:Ceacam18	UTSW	7	43641884	missense	probably damaging	1.00
R7502:Ceacam18	UTSW	7	43636874	missense	probably damaging	0.99

Posted On

2014-01-21