Mutagenetix > Incidental Mutation

Incidental Mutation 'R0567:Ceacam10'

46213

Institutional Source

Beutler Lab

Gene Symbol

Ceacam10

Ensembl Gene

ENSMUSG00000054169

Gene Name

CEA cell adhesion molecule 10

Synonyms

Bgp3, Cea10

MMRRC Submission

038758-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0567 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

24476631-24484082 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 24477834 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 116 (D116E)

Ref Sequence

ENSEMBL: ENSMUSP00000037036 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038069] [ENSMUST00000206847]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000038069
AA Change: D116E

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

SMART Domains

Protein: ENSMUSP00000037036
Gene: ENSMUSG00000054169
AA Change: D116E

Domain	Start	End	E-Value	Type
IG_like	42	141	1.23e1	SMART
low complexity region	142	151	N/A	INTRINSIC
IG_like	160	261	4.41e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000206847

Predicted Effect

probably benign
Transcript: ENSMUST00000206850

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.0%
20x: 94.7%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Animals homozygous for a mutation in this gene are fertile and viable. However, a small but significant 23% reduction in litter size was observed in homozygous matings. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl1	A	G	4: 86,146,253 (GRCm39)	E303G	probably damaging	Het
Akr1b1	A	T	6: 34,281,280 (GRCm39)		probably null	Het
Alox8	A	T	11: 69,082,348 (GRCm39)		probably null	Het
Apcdd1	G	A	18: 63,067,107 (GRCm39)	E74K	possibly damaging	Het
Atr	T	C	9: 95,747,882 (GRCm39)	V388A	probably benign	Het
AW554918	G	A	18: 25,533,092 (GRCm39)	E452K	possibly damaging	Het
C1galt1	A	G	6: 7,866,874 (GRCm39)	D240G	probably damaging	Het
Col15a1	G	T	4: 47,293,231 (GRCm39)	V912L	possibly damaging	Het
Cyp3a11	G	A	5: 145,805,959 (GRCm39)	T136I	probably damaging	Het
Denr	C	T	5: 124,046,221 (GRCm39)	T17M	probably benign	Het
Doc2b	A	G	11: 75,670,950 (GRCm39)	F227S	probably damaging	Het
Dsp	A	T	13: 38,376,414 (GRCm39)	T1400S	probably benign	Het
Egfr	A	T	11: 16,822,873 (GRCm39)	D412V	probably benign	Het
Fryl	C	T	5: 73,222,734 (GRCm39)	G1949D	possibly damaging	Het
Gstp3	A	T	19: 4,107,636 (GRCm39)	L176Q	possibly damaging	Het
H2ac12	T	C	13: 22,219,734 (GRCm39)		probably benign	Het
Heatr5a	T	A	12: 51,956,872 (GRCm39)	N1075I	probably damaging	Het
Ighv1-69	C	T	12: 115,587,169 (GRCm39)		probably benign	Het
Lama3	A	G	18: 12,682,309 (GRCm39)	I1092V	probably benign	Het
Lipg	A	T	18: 75,090,440 (GRCm39)	H36Q	probably benign	Het
Myh7b	T	C	2: 155,468,318 (GRCm39)	W836R	probably damaging	Het
Oit3	A	T	10: 59,271,800 (GRCm39)	C186S	probably damaging	Het
Or4m1	A	T	14: 50,558,115 (GRCm39)	M59K	probably damaging	Het
P2ry2	T	C	7: 100,647,748 (GRCm39)	T186A	probably damaging	Het
Pyroxd2	T	C	19: 42,724,364 (GRCm39)	T300A	probably benign	Het
Rab26	C	A	17: 24,748,556 (GRCm39)	V283F	probably damaging	Het
Rad50	C	T	11: 53,545,783 (GRCm39)	R1180Q	probably damaging	Het
Rbpms2	ACTGCTGCTGCTGCTGC	ACTGCTGCTGCTGCTGCTGC	9: 65,558,948 (GRCm39)		probably benign	Het
Shroom3	A	G	5: 93,112,312 (GRCm39)	D1891G	possibly damaging	Het
Syne2	G	A	12: 75,937,004 (GRCm39)	E201K	probably damaging	Het
Taf6	A	T	5: 138,181,988 (GRCm39)		probably null	Het
Tbc1d32	A	T	10: 56,050,059 (GRCm39)	M493K	possibly damaging	Het
Uaca	A	G	9: 60,778,663 (GRCm39)	T1017A	probably benign	Het
Usp17le	C	T	7: 104,418,105 (GRCm39)	V346I	possibly damaging	Het
Vmn1r71	T	C	7: 10,482,556 (GRCm39)	D44G	probably damaging	Het
Vmn2r80	A	G	10: 79,030,665 (GRCm39)	I830M	possibly damaging	Het
Yju2b	A	G	8: 84,987,294 (GRCm39)	L93P	probably damaging	Het
Zfp994	T	C	17: 22,419,449 (GRCm39)	Y500C	possibly damaging	Het
Zscan20	A	G	4: 128,483,243 (GRCm39)		probably null	Het

Other mutations in Ceacam10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01736:Ceacam10	APN	7	24,480,535 (GRCm39)	missense	probably damaging	1.00
IGL02538:Ceacam10	APN	7	24,477,908 (GRCm39)	missense	probably damaging	1.00
R0040:Ceacam10	UTSW	7	24,477,689 (GRCm39)	missense	probably damaging	1.00
R0040:Ceacam10	UTSW	7	24,477,689 (GRCm39)	missense	probably damaging	1.00
R0254:Ceacam10	UTSW	7	24,477,733 (GRCm39)	missense	probably damaging	0.96
R0396:Ceacam10	UTSW	7	24,480,439 (GRCm39)	missense	probably damaging	1.00
R1694:Ceacam10	UTSW	7	24,480,491 (GRCm39)	missense	probably benign	0.27
R2069:Ceacam10	UTSW	7	24,477,797 (GRCm39)	missense	probably damaging	1.00
R4425:Ceacam10	UTSW	7	24,480,433 (GRCm39)	missense	possibly damaging	0.68
R4748:Ceacam10	UTSW	7	24,480,477 (GRCm39)	missense	probably benign	0.01
R7292:Ceacam10	UTSW	7	24,477,775 (GRCm39)	missense	probably damaging	1.00
R7359:Ceacam10	UTSW	7	24,480,432 (GRCm39)	missense	unknown
R7664:Ceacam10	UTSW	7	24,477,757 (GRCm39)	missense	probably benign	0.05
R7736:Ceacam10	UTSW	7	24,480,636 (GRCm39)	missense	unknown
R8296:Ceacam10	UTSW	7	24,480,513 (GRCm39)	missense	unknown
R9625:Ceacam10	UTSW	7	24,476,705 (GRCm39)	missense	probably damaging	1.00
X0052:Ceacam10	UTSW	7	24,480,450 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ACTACTGCCCAAGTCACCGTTGAG -3'
(R):5'- TGTGTGCCCCGAACTAAATGTTCC -3'

Sequencing Primer
(F):5'- AAGTCACCGTTGAGGCTGTG -3'
(R):5'- TGTTCCCACCACAATGTAGG -3'

Posted On

2013-06-11