Mutagenetix > Incidental Mutation

Incidental Mutation 'R4669:Ceacam20'

352255

Institutional Source

Beutler Lab

Gene Symbol

Ceacam20

Ensembl Gene

ENSMUSG00000070777

Gene Name

carcinoembryonic antigen-related cell adhesion molecule 20

Synonyms

MMRRC Submission

041925-MU

Accession Numbers

Essential gene?

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

Stock #

R4669 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

19965412-19991104 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 19986027 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 495 (Y495H)

Ref Sequence

ENSEMBL: ENSMUSP00000092344 (fasta)

Gene Model

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

AlphaFold

Q9D2Z1

Predicted Effect

probably damaging
Transcript: ENSMUST00000094753
AA Change: Y495H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000092344
Gene: ENSMUSG00000070777
AA Change: Y495H

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

unknown
Transcript: ENSMUST00000207248
AA Change: Y45H

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad8	A	G	9: 26,990,627	L147P	probably damaging	Het
Acan	A	G	7: 79,101,142	E464G	probably benign	Het
Agap1	A	G	1: 89,837,806		probably null	Het
Akap13	A	G	7: 75,729,094	T2128A	probably damaging	Het
Ap2a1	A	T	7: 44,902,919		probably benign	Het
Arap3	T	C	18: 37,996,254	D217G	probably benign	Het
Arl2	C	A	19: 6,134,686	R179L	probably damaging	Het
Atg2a	T	A	19: 6,258,987		probably null	Het
B3gat1	T	A	9: 26,751,756	L6Q	probably benign	Het
Bcl10	A	G	3: 145,930,572	N75S	probably damaging	Het
Bmpr2	T	C	1: 59,867,716	L656S	probably damaging	Het
Brms1l	A	G	12: 55,841,571	E48G	possibly damaging	Het
C2cd2l	A	T	9: 44,315,025	N414K	possibly damaging	Het
Capn2	C	T	1: 182,470,780	C640Y	probably benign	Het
Ccdc153	G	T	9: 44,245,724	R99M	probably damaging	Het
Ccdc51	A	G	9: 109,090,962	N142S	probably benign	Het
Ccdc58	A	G	16: 36,082,719	D27G	probably damaging	Het
Cdipt	A	G	7: 126,978,406	H108R	possibly damaging	Het
Celf2	T	C	2: 6,721,528	I47V	probably benign	Het
Cts3	C	T	13: 61,566,823	E223K	probably benign	Het
Cyp2a22	T	C	7: 26,937,855	D168G	possibly damaging	Het
Cyp2c67	T	A	19: 39,643,654	H90L	probably benign	Het
Ddx4	T	C	13: 112,622,244	Y261C	probably damaging	Het
Dnah17	T	C	11: 118,074,293	T2308A	probably benign	Het
Dnah6	T	C	6: 73,037,688	T3587A	probably damaging	Het
Dpy19l1	C	T	9: 24,432,368	V494I	possibly damaging	Het
Dse	T	G	10: 34,153,012	Y694S	probably damaging	Het
Emilin3	T	C	2: 160,910,797	I78V	probably benign	Het
Esam	T	A	9: 37,536,656	Y195*	probably null	Het
Extl3	T	A	14: 65,076,296	N479I	possibly damaging	Het
Fat2	A	G	11: 55,311,615	V211A	probably benign	Het
Ganc	G	T	2: 120,431,067	V343F	probably benign	Het
Ggt5	T	C	10: 75,603,031	L121P	probably damaging	Het
Gnmt	A	T	17: 46,726,299	C186*	probably null	Het
Gpr75	A	T	11: 30,892,072	I326F	probably damaging	Het
Gsdme	C	T	6: 50,208,122	V451M	probably damaging	Het
H2-T23	G	T	17: 36,031,798	D149E	probably damaging	Het
Hmcn2	G	T	2: 31,435,792	R4277L	probably benign	Het
Irf9	C	A	14: 55,605,766	H94N	probably benign	Het
Jhy	T	C	9: 40,961,153	N20S	probably benign	Het
Klf17	C	A	4: 117,760,371	C263F	probably damaging	Het
Lama5	T	C	2: 180,180,637	Y2881C	probably damaging	Het
Lig1	T	G	7: 13,311,028	I882S	probably damaging	Het
Ltn1	A	T	16: 87,418,487	M420K	possibly damaging	Het
Mael	T	C	1: 166,235,508	E125G	probably damaging	Het
Mib2	C	T	4: 155,657,415	D275N	possibly damaging	Het
Mical3	C	T	6: 120,957,703	R1805Q	probably damaging	Het
Mllt10	A	G	2: 18,203,633	D158G	probably damaging	Het
Mocs1	A	G	17: 49,454,585	D569G	possibly damaging	Het
Msh6	T	C	17: 87,984,806	S330P	possibly damaging	Het
Mtmr2	T	C	9: 13,795,964	S199P	probably damaging	Het
Ndufaf5	T	C	2: 140,187,755	V164A	probably benign	Het
Nek9	T	C	12: 85,314,204	E518G	probably benign	Het
Nfatc2	T	C	2: 168,571,490	I72V	probably benign	Het
Nlrp9c	C	T	7: 26,375,368	A746T	possibly damaging	Het
Nupl2	A	G	5: 24,182,417	R402G	probably benign	Het
Ogdh	G	T	11: 6,340,600	C406F	probably benign	Het
Olfr1045	A	T	2: 86,197,933	M273K	possibly damaging	Het
Olfr1225	G	A	2: 89,170,901	H104Y	probably damaging	Het
Olfr146	T	A	9: 39,019,379	Y54F	probably benign	Het
Olfr411	A	G	11: 74,346,963	V207A	probably benign	Het
Olfr881	A	T	9: 37,993,085	I198F	possibly damaging	Het
Otof	A	G	5: 30,420,974		probably null	Het
Pcdhb17	T	C	18: 37,486,206	S350P	probably damaging	Het
Phf3	T	C	1: 30,829,946	T674A	probably damaging	Het
Pikfyve	T	A	1: 65,250,273	C1235S	probably damaging	Het
Ppfia3	T	C	7: 45,352,093	E465G	probably damaging	Het
Prkg1	T	A	19: 31,664,239	I15F	probably damaging	Het
Rab5c	A	G	11: 100,720,017	F22L	probably damaging	Het
Raf1	A	G	6: 115,632,919	S220P	probably damaging	Het
Rgl1	T	G	1: 152,521,371	R716S	probably damaging	Het
Rhbg	C	A	3: 88,245,966	W205L	probably damaging	Het
Rimbp3	A	G	16: 17,209,189	E159G	possibly damaging	Het
Ryr1	T	C	7: 29,059,831	D3338G	probably null	Het
Sash1	T	C	10: 8,730,385	N747S	probably benign	Het
Serpina3g	A	T	12: 104,239,220	I73F	probably damaging	Het
Sfxn2	C	A	19: 46,585,774	N134K	probably damaging	Het
Slc12a6	A	G	2: 112,354,295	H853R	probably damaging	Het
Slc16a12	C	T	19: 34,672,565	D357N	probably damaging	Het
Slc39a8	T	C	3: 135,856,011	Y164H	probably benign	Het
Snx9	A	G	17: 5,927,224	K518E	probably damaging	Het
Spdye4c	G	A	2: 128,592,353	V5I	possibly damaging	Het
Spef2	A	G	15: 9,676,373	V704A	probably benign	Het
Stard3nl	T	A	13: 19,376,519	N29Y	probably damaging	Het
Strap	C	A	6: 137,735,386	S11*	probably null	Het
Synpo2	A	G	3: 123,113,063	L868P	probably damaging	Het
Tenm2	A	G	11: 36,010,487	V2474A	probably damaging	Het
Tm9sf4	T	A	2: 153,187,308	V92D	probably damaging	Het
Tmf1	A	T	6: 97,170,427	M526K	probably benign	Het
Top2b	T	G	14: 16,409,189	I777M	probably damaging	Het
Ttc39d	A	G	17: 80,217,639	I576V	probably benign	Het
Upk1a	T	G	7: 30,605,129	T193P	probably benign	Het
Vmn2r67	A	T	7: 85,150,524	V502E	probably benign	Het
Wdr17	A	G	8: 54,690,048	V189A	possibly damaging	Het
Wrap73	A	T	4: 154,151,696	S161C	probably benign	Het
Zfp568	A	G	7: 30,023,277	H549R	probably damaging	Het
Zfp605	T	A	5: 110,127,361	M115K	possibly damaging	Het
Zp1	T	A	19: 10,918,905	H152L	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
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

Predicted Primers

PCR Primer
(F):5'- GACCACAACTTAGCTCCTCCTCT -3'
(R):5'- GCAGTGACCACATCTGAGGAA -3'

Sequencing Primer
(F):5'- AGCTCCTCCTCTATATGACTAAATGG -3'
(R):5'- AGCTAGTCTAACATGCTTAAGGCTGG -3'

Posted On

2015-10-08