Mutagenetix > Incidental Mutations

Incidental Mutation 'R6414:Ceacam20'

514856

Institutional Source

Beutler Lab

Gene Symbol

Ceacam20

Ensembl Gene

ENSMUSG00000070777

Gene Name

carcinoembryonic antigen-related cell adhesion molecule 20

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.109) question?

Stock #

R6414 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

19965412-19991104 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 19976131 bp

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 360 (A360E)

Ref Sequence

ENSEMBL: ENSMUSP00000092344 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000094753
AA Change: A360E

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

SMART Domains

Protein: ENSMUSP00000092344
Gene: ENSMUSG00000070777
AA Change: A360E

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.7%

Validation Efficiency

98% (57/58)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap1	A	G	11: 69,884,336	V367A	probably benign	Het
Alpk1	T	C	3: 127,680,209	D715G	probably benign	Het
Atg101	T	A	15: 101,290,460	C149S	probably benign	Het
Atp2c1	A	T	9: 105,466,656	I84N	probably damaging	Het
Chd3	A	T	11: 69,352,545		probably null	Het
Clcc1	G	A	3: 108,676,851	C517Y	possibly damaging	Het
Col6a5	T	C	9: 105,892,266		probably null	Het
Ctnna3	T	C	10: 64,260,865	V394A	probably benign	Het
Ctsll3	A	G	13: 60,800,299	F188S	probably damaging	Het
Cyth4	T	C	15: 78,608,146	V125A	probably damaging	Het
Ddx43	G	A	9: 78,400,936	V131I	probably benign	Het
Elp4	A	G	2: 105,904,443	S16P	possibly damaging	Het
Espl1	T	A	15: 102,315,560	V1182E	probably damaging	Het
Fhod3	T	C	18: 25,090,878	S1094P	possibly damaging	Het
Fmo6	A	T	1: 162,920,445	V350D	probably damaging	Het
Frem1	A	G	4: 82,940,536	F1545S	probably damaging	Het
Gata3	T	A	2: 9,858,434	H423L	possibly damaging	Het
Gm438	T	A	4: 144,777,415	I389L	possibly damaging	Het
Golt1a	A	T	1: 133,320,294	M87L	probably damaging	Het
Gpr171	A	T	3: 59,098,123	V77E	probably damaging	Het
Hectd2	A	G	19: 36,618,786	D757G	probably benign	Het
Hmmr	A	G	11: 40,715,867		probably null	Het
Il31ra	A	G	13: 112,523,907	V635A	possibly damaging	Het
Lama1	T	C	17: 67,746,910		probably null	Het
Ltbp4	G	A	7: 27,310,715	P1140L	probably damaging	Het
Macf1	A	G	4: 123,493,195	L1210P	possibly damaging	Het
Meox2	A	T	12: 37,108,831	M1L	probably benign	Het
Mex3d	A	G	10: 80,381,371	S671P	unknown	Het
Mrgprb2	C	T	7: 48,552,381	V199I	probably benign	Het
Mroh9	A	T	1: 163,074,702	V114E	probably damaging	Het
Muc5b	A	G	7: 141,859,097	K1927E	unknown	Het
Olfr1275	A	C	2: 111,231,152		probably null	Het
Olfr781	T	A	10: 129,333,709	I276K	probably benign	Het
Otogl	C	T	10: 107,782,050	C1734Y	probably damaging	Het
Parp4	T	A	14: 56,627,381		probably null	Het
Pcdh15	T	A	10: 74,185,426	N162K	probably damaging	Het
Pcdhb10	A	C	18: 37,413,845	H658P	possibly damaging	Het
Pgm2l1	G	T	7: 100,255,540	A160S	possibly damaging	Het
Prkag2	T	A	5: 25,100,180		probably benign	Het
Rap1gap2	A	G	11: 74,405,790	L457P	probably damaging	Het
Rasef	C	T	4: 73,740,581	V463M	probably benign	Het
Rb1	T	C	14: 73,282,974	S42G	unknown	Het
Reep3	C	A	10: 67,039,577	V36F	probably damaging	Het
Rhcg	A	G	7: 79,598,968		probably null	Het
Sbno1	T	C	5: 124,395,931	S661G	probably benign	Het
Slc25a3	T	G	10: 91,122,328	Q50P	possibly damaging	Het
Slc2a13	T	A	15: 91,343,805	I395F	probably benign	Het
Slc6a5	C	T	7: 49,910,243		probably benign	Het
Snta1	G	C	2: 154,378,067	T391S	possibly damaging	Het
Spata7	T	C	12: 98,663,220		probably null	Het
Stx17	A	G	4: 48,158,809		probably null	Het
Terf2	A	T	8: 107,076,854	S365T	probably benign	Het
Tmem231	G	A	8: 111,926,892		probably benign	Het
Trim8	A	T	19: 46,502,907	H155L	probably benign	Het
Wipi2	T	A	5: 142,655,938	V83D	probably damaging	Het
Zfp316	C	A	5: 143,254,884	R460L	possibly damaging	Het
Zfp651	T	G	9: 121,763,659	D348E	probably benign	Het
Zfp799	C	T	17: 32,820,285	V336M	probably damaging	Het
Zfp947	A	T	17: 22,146,414	I93N	probably damaging	Het
Zranb3	A	G	1: 128,040,957	Y74H	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
IGL01574:Ceacam20	APN	7	19974322	missense	possibly damaging	0.48
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
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
Z1177:Ceacam20	UTSW	7	19970164	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- ATGATGACGATAACAACAGCAAA -3'
(R):5'- TGACCAGGACAGAGGCAGAT -3'

Sequencing Primer
(F):5'- GATGACGATAACAACAGCAAAAATCC -3'
(R):5'- ACAGAGGCAGATCGGGC -3'

Posted On

2018-05-04