Mutagenetix > Incidental Mutation

Incidental Mutation 'R5357:Ceacam12'

434541

Institutional Source

Beutler Lab

Gene Symbol

Ceacam12

Ensembl Gene

ENSMUSG00000030366

Gene Name

CEA cell adhesion molecule 12

Synonyms

Ceacam12-C1, Ceacam12-C3, 1600031J20Rik

MMRRC Submission

042936-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5357 (G1)

Quality Score

126

Status

Not validated

Chromosome

Chromosomal Location

17799854-17811911 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 17811384 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 282 (C282*)

Ref Sequence

ENSEMBL: ENSMUSP00000104127 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000108487]

AlphaFold

Q3UKP4

Predicted Effect

probably null
Transcript: ENSMUST00000108487
AA Change: C282*

SMART Domains

Protein: ENSMUSP00000104127
Gene: ENSMUSG00000030366
AA Change: C282*

Domain	Start	End	E-Value	Type
IG	40	141	7.77e-1	SMART
IG_like	159	260	4.78e1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205637

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205962

Coding Region Coverage

1x: 98.9%
3x: 97.4%
10x: 94.5%
20x: 87.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013G24Rik	T	C	4: 137,182,463 (GRCm39)	V206A	possibly damaging	Het
5730522E02Rik	A	T	11: 25,598,148 (GRCm39)	C102*	probably null	Het
Brsk2	C	A	7: 141,538,248 (GRCm39)	D131E	possibly damaging	Het
Cacng7	T	C	7: 3,387,452 (GRCm39)	F112L	probably benign	Het
Dnm1	T	C	2: 32,226,253 (GRCm39)	D312G	probably null	Het
Dyrk1b	T	C	7: 27,884,743 (GRCm39)	V326A	possibly damaging	Het
Eloa	T	C	4: 135,736,559 (GRCm39)	D563G	probably benign	Het
Evi5l	A	G	8: 4,253,623 (GRCm39)	K489R	possibly damaging	Het
Fkbpl	G	A	17: 34,864,303 (GRCm39)	A24T	probably benign	Het
Galntl6	T	C	8: 58,337,497 (GRCm39)	E326G	probably damaging	Het
Gm1758	G	A	16: 14,320,218 (GRCm39)		noncoding transcript	Het
Grm8	A	T	6: 27,762,418 (GRCm39)	L269Q	probably damaging	Het
Hsd17b12	A	G	2: 93,863,990 (GRCm39)	I284T	possibly damaging	Het
Hyal6	T	A	6: 24,734,517 (GRCm39)	M150K	probably benign	Het
Ift80	T	A	3: 68,898,113 (GRCm39)	Q74L	possibly damaging	Het
Krt76	T	C	15: 101,795,820 (GRCm39)	K450R	probably benign	Het
Larp1b	A	G	3: 40,978,950 (GRCm39)	E2G	probably benign	Het
Ltbr	G	A	6: 125,289,757 (GRCm39)	R146W	probably damaging	Het
Map2k7	A	T	8: 4,294,461 (GRCm39)	H253L	probably damaging	Het
Melk	C	T	4: 44,363,730 (GRCm39)	T592M	probably damaging	Het
Mmp2	A	G	8: 93,559,780 (GRCm39)	T248A	possibly damaging	Het
Mt1	T	A	8: 94,906,732 (GRCm39)	C33S	probably damaging	Het
Obox5	T	A	7: 15,491,463 (GRCm39)	M1K	probably null	Het
Pak4	A	G	7: 28,263,831 (GRCm39)	S302P	probably damaging	Het
Pcsk2	T	C	2: 143,415,384 (GRCm39)	Y66H	probably benign	Het
Pgm3	G	A	9: 86,438,310 (GRCm39)	R451*	probably null	Het
Phf10	A	T	17: 15,174,275 (GRCm39)		probably null	Het
Pkd1	T	G	17: 24,784,764 (GRCm39)	V402G	probably damaging	Het
Plekha4	G	T	7: 45,184,195 (GRCm39)	V61F	probably damaging	Het
Ppfia2	G	A	10: 106,740,708 (GRCm39)		probably null	Het
R3hdm4	C	T	10: 79,748,292 (GRCm39)	E162K	possibly damaging	Het
Skil	A	G	3: 31,167,700 (GRCm39)	H444R	probably benign	Het
Tcn2	T	G	11: 3,876,017 (GRCm39)	D137A	possibly damaging	Het
Tnks2	G	A	19: 36,826,690 (GRCm39)		silent	Het
Trh	T	A	6: 92,219,815 (GRCm39)	D167V	probably benign	Het
Tshz1	C	T	18: 84,033,205 (GRCm39)	G401D	probably damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Ubqlnl	T	A	7: 103,798,138 (GRCm39)	Q453L	probably damaging	Het
Vmn2r111	T	A	17: 22,767,083 (GRCm39)	K805*	probably null	Het
Wnt16	T	G	6: 22,291,231 (GRCm39)		probably benign	Het
Zc3h11a	A	T	1: 133,550,780 (GRCm39)	V665E	probably damaging	Het
Zfp456	A	T	13: 67,520,328 (GRCm39)	M63K	possibly damaging	Het
Zzef1	C	T	11: 72,734,159 (GRCm39)	Q584*	probably null	Het

Other mutations in Ceacam12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00577:Ceacam12	APN	7	17,801,186 (GRCm39)	missense	probably damaging	1.00
IGL01483:Ceacam12	APN	7	17,801,446 (GRCm39)	missense	probably benign	0.07
IGL01505:Ceacam12	APN	7	17,801,357 (GRCm39)	missense	probably damaging	0.98
IGL01540:Ceacam12	APN	7	17,805,727 (GRCm39)	intron	probably benign
R0033:Ceacam12	UTSW	7	17,803,385 (GRCm39)	splice site	probably benign
R0033:Ceacam12	UTSW	7	17,803,385 (GRCm39)	splice site	probably benign
R1816:Ceacam12	UTSW	7	17,805,690 (GRCm39)	splice site	probably null
R4227:Ceacam12	UTSW	7	17,805,678 (GRCm39)	missense	probably benign	0.01
R4382:Ceacam12	UTSW	7	17,799,959 (GRCm39)	start gained	probably benign
R4541:Ceacam12	UTSW	7	17,805,648 (GRCm39)	missense	probably benign
R4651:Ceacam12	UTSW	7	17,801,359 (GRCm39)	missense	probably damaging	1.00
R4652:Ceacam12	UTSW	7	17,801,359 (GRCm39)	missense	probably damaging	1.00
R4831:Ceacam12	UTSW	7	17,811,305 (GRCm39)	splice site	probably null
R5351:Ceacam12	UTSW	7	17,801,159 (GRCm39)	missense	probably damaging	1.00
R5779:Ceacam12	UTSW	7	17,803,079 (GRCm39)	missense	probably benign	0.29
R5893:Ceacam12	UTSW	7	17,803,299 (GRCm39)	missense	probably damaging	1.00
R5946:Ceacam12	UTSW	7	17,803,131 (GRCm39)	missense	probably damaging	1.00
R6151:Ceacam12	UTSW	7	17,803,030 (GRCm39)	missense	probably benign	0.01
R6175:Ceacam12	UTSW	7	17,801,312 (GRCm39)	missense	probably damaging	1.00
R6346:Ceacam12	UTSW	7	17,803,326 (GRCm39)	missense	probably damaging	0.99
R6491:Ceacam12	UTSW	7	17,803,185 (GRCm39)	missense	probably damaging	1.00
R6591:Ceacam12	UTSW	7	17,803,149 (GRCm39)	missense	possibly damaging	0.53
R6691:Ceacam12	UTSW	7	17,803,149 (GRCm39)	missense	possibly damaging	0.53
R8822:Ceacam12	UTSW	7	17,803,378 (GRCm39)	critical splice donor site	probably benign
R9232:Ceacam12	UTSW	7	17,803,341 (GRCm39)	missense	probably benign
R9279:Ceacam12	UTSW	7	17,801,177 (GRCm39)	missense	probably damaging	1.00
R9372:Ceacam12	UTSW	7	17,803,229 (GRCm39)	missense	probably benign	0.40
Z1177:Ceacam12	UTSW	7	17,801,440 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAACAAGCACGAACTCTGTGC -3'
(R):5'- CAGTTAATATCCTGTTCCTGGGAAT -3'

Sequencing Primer
(F):5'- AGCACGAACTCTGTGCCATCTC -3'
(R):5'- AATTTGCCAGCTTGATCAGGC -3'

Posted On

2016-10-06