Mutagenetix > Incidental Mutation

Incidental Mutation 'R8159:Ceacam20'

633435

Institutional Source

Beutler Lab

Gene Symbol

Ceacam20

Ensembl Gene

ENSMUSG00000070777

Gene Name

CEA cell adhesion molecule 20

Synonyms

9130012D09Rik

MMRRC Submission

067585-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.208) question?

Stock #

R8159 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

19699337-19725029 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 19710109 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 378 (V378L)

Ref Sequence

ENSEMBL: ENSMUSP00000092344 (fasta)

Gene Model

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

AlphaFold

Q9D2Z1

Predicted Effect

probably damaging
Transcript: ENSMUST00000094753
AA Change: V378L

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000092344
Gene: ENSMUSG00000070777
AA Change: V378L

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

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.6%

Validation Efficiency

100% (49/49)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm1	C	A	3: 59,843,843 (GRCm39)	P179Q	probably damaging	Het
Abcc1	C	T	16: 14,290,794 (GRCm39)	T1468I	probably damaging	Het
Adrb3	A	C	8: 27,718,099 (GRCm39)	C117G	probably benign	Het
Aff4	A	T	11: 53,302,721 (GRCm39)	S1065C	possibly damaging	Het
Agrn	G	A	4: 156,256,825 (GRCm39)	A1260V	probably benign	Het
Auts2	A	G	5: 131,488,963 (GRCm39)		probably null	Het
BC005537	T	A	13: 24,993,916 (GRCm39)	H159Q	probably benign	Het
Cacna2d4	A	G	6: 119,274,488 (GRCm39)	D625G	probably benign	Het
Cd72	A	G	4: 43,450,174 (GRCm39)	Y245H	probably damaging	Het
Chpf	C	T	1: 75,455,436 (GRCm39)	R105K	probably null	Het
Chst9	A	T	18: 15,585,365 (GRCm39)	Y399*	probably null	Het
Cntn5	A	G	9: 10,145,386 (GRCm39)	I108T	possibly damaging	Het
Col14a1	A	G	15: 55,291,324 (GRCm39)	T931A	unknown	Het
D630045J12Rik	T	C	6: 38,105,410 (GRCm39)	H1890R	probably damaging	Het
Dkk2	T	C	3: 131,880,739 (GRCm39)	I128T	probably benign	Het
Ece2	C	T	16: 20,430,534 (GRCm39)	P54S	probably damaging	Het
Fhip2a	T	C	19: 57,372,697 (GRCm39)		probably null	Het
Fry	A	T	5: 150,322,998 (GRCm39)	T1050S	probably benign	Het
Gfra2	A	G	14: 71,133,397 (GRCm39)	K76E	probably damaging	Het
Gigyf1	A	T	5: 137,520,457 (GRCm39)	D423V	unknown	Het
Gpr180	G	A	14: 118,391,302 (GRCm39)	G235R	probably damaging	Het
Herc1	A	G	9: 66,369,003 (GRCm39)	Q403R	probably null	Het
Hes5	A	G	4: 155,045,502 (GRCm39)	N17S	probably benign	Het
Insrr	T	A	3: 87,707,735 (GRCm39)	L59H	probably damaging	Het
Irs1	A	C	1: 82,266,290 (GRCm39)	I642S	probably damaging	Het
Mettl22	T	C	16: 8,306,633 (GRCm39)	V363A	probably benign	Het
Notch2	A	G	3: 98,028,238 (GRCm39)	H983R	possibly damaging	Het
Nynrin	T	G	14: 56,100,587 (GRCm39)	S126A	probably damaging	Het
Nynrin	A	T	14: 56,102,517 (GRCm39)	M729L	probably benign	Het
Or51v14	G	A	7: 103,261,347 (GRCm39)	T71I	possibly damaging	Het
Or7e178	A	C	9: 20,226,015 (GRCm39)	I67S	possibly damaging	Het
Otof	C	T	5: 30,537,538 (GRCm39)	G1257D	probably benign	Het
Pals2	A	T	6: 50,171,527 (GRCm39)	E392V	probably benign	Het
Pcdhgc5	A	G	18: 37,954,175 (GRCm39)	E483G	probably benign	Het
Phldb2	T	C	16: 45,680,747 (GRCm39)	E20G	possibly damaging	Het
Ptprz1	A	G	6: 23,001,662 (GRCm39)	I1251V	probably benign	Het
Rfx2	A	T	17: 57,110,605 (GRCm39)	M127K	probably benign	Het
Slc9a3	A	G	13: 74,312,407 (GRCm39)	N668S	probably benign	Het
Smg6	G	A	11: 74,929,465 (GRCm39)	V965M	probably damaging	Het
Spen	A	T	4: 141,202,314 (GRCm39)	H2104Q	possibly damaging	Het
Svep1	C	T	4: 58,069,396 (GRCm39)	E2797K	possibly damaging	Het
Svep1	T	C	4: 58,087,815 (GRCm39)	S1755G	probably benign	Het
Sycp2	A	C	2: 177,996,770 (GRCm39)	S1144R	probably damaging	Het
Tsen54	T	A	11: 115,711,804 (GRCm39)	L407*	probably null	Het
Uba1y	T	A	Y: 828,806 (GRCm39)	I538K	possibly damaging	Het
Vil1	C	A	1: 74,463,136 (GRCm39)	H440N	probably benign	Het

Other mutations in Ceacam20

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01572:Ceacam20	APN	7	19,708,199 (GRCm39)	missense	probably damaging	1.00
IGL01574:Ceacam20	APN	7	19,708,247 (GRCm39)	missense	possibly damaging	0.48
IGL02407:Ceacam20	APN	7	19,704,332 (GRCm39)	missense	probably benign	0.26
IGL03035:Ceacam20	APN	7	19,711,833 (GRCm39)	critical splice donor site	probably null
IGL03144:Ceacam20	APN	7	19,705,444 (GRCm39)	missense	possibly damaging	0.65
R0129:Ceacam20	UTSW	7	19,710,185 (GRCm39)	missense	probably damaging	1.00
R0573:Ceacam20	UTSW	7	19,720,593 (GRCm39)	missense	probably damaging	0.97
R0616:Ceacam20	UTSW	7	19,704,321 (GRCm39)	missense	probably benign	0.01
R1016:Ceacam20	UTSW	7	19,710,227 (GRCm39)	missense	probably null
R1218:Ceacam20	UTSW	7	19,710,022 (GRCm39)	missense	probably benign	0.00
R1257:Ceacam20	UTSW	7	19,708,117 (GRCm39)	missense	probably benign	0.03
R2334:Ceacam20	UTSW	7	19,705,516 (GRCm39)	missense	probably damaging	1.00
R3051:Ceacam20	UTSW	7	19,710,110 (GRCm39)	missense	probably benign	0.33
R4184:Ceacam20	UTSW	7	19,710,041 (GRCm39)	missense	probably damaging	1.00
R4667:Ceacam20	UTSW	7	19,719,952 (GRCm39)	missense	probably damaging	1.00
R4668:Ceacam20	UTSW	7	19,719,952 (GRCm39)	missense	probably damaging	1.00
R4669:Ceacam20	UTSW	7	19,719,952 (GRCm39)	missense	probably damaging	1.00
R4953:Ceacam20	UTSW	7	19,705,651 (GRCm39)	missense	probably damaging	1.00
R5000:Ceacam20	UTSW	7	19,699,453 (GRCm39)	missense	probably damaging	0.98
R5450:Ceacam20	UTSW	7	19,712,133 (GRCm39)	missense	possibly damaging	0.94
R5561:Ceacam20	UTSW	7	19,704,318 (GRCm39)	missense	possibly damaging	0.90
R6118:Ceacam20	UTSW	7	19,705,654 (GRCm39)	missense	possibly damaging	0.90
R6414:Ceacam20	UTSW	7	19,710,056 (GRCm39)	missense	probably damaging	1.00
R6970:Ceacam20	UTSW	7	19,723,902 (GRCm39)	missense	probably damaging	1.00
R7220:Ceacam20	UTSW	7	19,701,678 (GRCm39)	missense	probably damaging	0.99
R7426:Ceacam20	UTSW	7	19,704,159 (GRCm39)	missense	probably damaging	1.00
R8222:Ceacam20	UTSW	7	19,705,618 (GRCm39)	missense	probably benign	0.07
R8265:Ceacam20	UTSW	7	19,708,159 (GRCm39)	missense	probably damaging	1.00
R8322:Ceacam20	UTSW	7	19,705,628 (GRCm39)	missense	probably damaging	1.00
R8823:Ceacam20	UTSW	7	19,705,429 (GRCm39)	missense	probably damaging	1.00
R9325:Ceacam20	UTSW	7	19,720,607 (GRCm39)	missense	probably benign	0.00
R9367:Ceacam20	UTSW	7	19,705,533 (GRCm39)	missense	probably damaging	1.00
R9553:Ceacam20	UTSW	7	19,723,926 (GRCm39)	missense	probably damaging	1.00
Z1177:Ceacam20	UTSW	7	19,704,089 (GRCm39)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- ATGTGTGACTTTGCAGATGGCC -3'
(R):5'- TCGACGTCACACTTAATGCC -3'

Sequencing Primer
(F):5'- TTTGCAGATGGCCCCGAC -3'
(R):5'- GACGTCACACTTAATGCCATGATAG -3'

Posted On

2020-07-13