Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01574:Ceacam20'

91186

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ceacam20

Ensembl Gene

ENSMUSG00000070777

Gene Name

carcinoembryonic antigen-related cell adhesion molecule 20

Synonyms

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.263) question?

Stock #

IGL01574

Quality Score

Status

Chromosome

Chromosomal Location

19965412-19991104 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 19974322 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 284 (T284K)

Ref Sequence

ENSEMBL: ENSMUSP00000092344 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094753]

AlphaFold

Q9D2Z1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000094753
AA Change: T284K

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

SMART Domains

Protein: ENSMUSP00000092344
Gene: ENSMUSG00000070777
AA Change: T284K

Domain	Start	End	E-Value	Type
signal peptide	1	30	N/A	INTRINSIC
IG	57	139	1.4e-7	SMART
IGc2	162	220	1.68e-5	SMART
IG	244	326	1.85e-7	SMART
IGc2	349	406	4.67e-4	SMART
transmembrane domain	431	453	N/A	INTRINSIC
low complexity region	458	473	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000207248

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530077C05Rik	T	C	9: 22,444,130	V487A	possibly damaging	Het
Ankrd26	T	G	6: 118,539,698	T502P	probably damaging	Het
Apoa4	C	A	9: 46,242,985	Q295K	probably benign	Het
Asxl3	T	G	18: 22,523,564	C1544G	probably benign	Het
Ccl7	G	A	11: 82,046,625	V62I	probably damaging	Het
Ces4a	A	T	8: 105,145,227		probably benign	Het
Col4a2	G	T	8: 11,439,306	G1147V	probably damaging	Het
Gtf3c4	T	C	2: 28,834,436	D428G	possibly damaging	Het
Itgb2	G	A	10: 77,557,964	V413I	possibly damaging	Het
Itgb7	T	G	15: 102,227,540	E20A	possibly damaging	Het
Kank2	C	A	9: 21,794,604	G373W	probably damaging	Het
Kif1a	T	A	1: 93,082,340	I28F	probably damaging	Het
Klhdc7b	T	C	15: 89,387,369	V818A	probably benign	Het
Klhl20	T	C	1: 161,093,726	Y53C	probably damaging	Het
Mroh1	A	G	15: 76,432,288	N772S	probably benign	Het
Mtmr4	C	T	11: 87,600,647	T146I	probably benign	Het
Nup210	C	T	6: 91,040,564	V1152I	probably benign	Het
Pclo	T	A	5: 14,713,448	D3978E	unknown	Het
Pkd1l3	T	C	8: 109,623,771	L416P	probably benign	Het
Pkn2	T	C	3: 142,839,231	M161V	possibly damaging	Het
Plxnb2	T	C	15: 89,162,683		probably null	Het
Polr2e	C	A	10: 80,039,633	D3Y	probably damaging	Het
Prss27	A	T	17: 24,038,371		probably benign	Het
Psmg2	G	A	18: 67,653,223	V218I	probably benign	Het
Tmem30c	T	A	16: 57,276,742	I152F	possibly damaging	Het
Usp2	G	A	9: 44,093,803	R378H	probably damaging	Het
Vmn2r106	A	T	17: 20,268,310	I609N	possibly damaging	Het
Vmn2r51	T	A	7: 10,102,454	E133D	probably damaging	Het
Zkscan3	A	T	13: 21,394,091		probably benign	Het

Other mutations in Ceacam20

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01572:Ceacam20	APN	7	19974274	missense	probably damaging	1.00
IGL02407:Ceacam20	APN	7	19970407	missense	probably benign	0.26
IGL03035:Ceacam20	APN	7	19977908	critical splice donor site	probably null
IGL03144:Ceacam20	APN	7	19971519	missense	possibly damaging	0.65
R0129:Ceacam20	UTSW	7	19976260	missense	probably damaging	1.00
R0573:Ceacam20	UTSW	7	19986668	missense	probably damaging	0.97
R0616:Ceacam20	UTSW	7	19970396	missense	probably benign	0.01
R1016:Ceacam20	UTSW	7	19976302	missense	probably null
R1218:Ceacam20	UTSW	7	19976097	missense	probably benign	0.00
R1257:Ceacam20	UTSW	7	19974192	missense	probably benign	0.03
R2334:Ceacam20	UTSW	7	19971591	missense	probably damaging	1.00
R3051:Ceacam20	UTSW	7	19976185	missense	probably benign	0.33
R4184:Ceacam20	UTSW	7	19976116	missense	probably damaging	1.00
R4667:Ceacam20	UTSW	7	19986027	missense	probably damaging	1.00
R4668:Ceacam20	UTSW	7	19986027	missense	probably damaging	1.00
R4669:Ceacam20	UTSW	7	19986027	missense	probably damaging	1.00
R4953:Ceacam20	UTSW	7	19971726	missense	probably damaging	1.00
R5000:Ceacam20	UTSW	7	19965528	missense	probably damaging	0.98
R5450:Ceacam20	UTSW	7	19978208	missense	possibly damaging	0.94
R5561:Ceacam20	UTSW	7	19970393	missense	possibly damaging	0.90
R6118:Ceacam20	UTSW	7	19971729	missense	possibly damaging	0.90
R6414:Ceacam20	UTSW	7	19976131	missense	probably damaging	1.00
R6970:Ceacam20	UTSW	7	19989977	missense	probably damaging	1.00
R7220:Ceacam20	UTSW	7	19967753	missense	probably damaging	0.99
R7426:Ceacam20	UTSW	7	19970234	missense	probably damaging	1.00
R8159:Ceacam20	UTSW	7	19976184	missense	probably damaging	0.97
R8222:Ceacam20	UTSW	7	19971693	missense	probably benign	0.07
R8265:Ceacam20	UTSW	7	19974234	missense	probably damaging	1.00
R8322:Ceacam20	UTSW	7	19971703	missense	probably damaging	1.00
R8823:Ceacam20	UTSW	7	19971504	missense	probably damaging	1.00
R9325:Ceacam20	UTSW	7	19986682	missense	probably benign	0.00
R9367:Ceacam20	UTSW	7	19971608	missense	probably damaging	1.00
R9553:Ceacam20	UTSW	7	19990001	missense	probably damaging	1.00
Z1177:Ceacam20	UTSW	7	19970164	critical splice acceptor site	probably null

Posted On

2013-12-09