Mutagenetix > Incidental Mutations

Incidental Mutation 'R4335:Ceacam5'

323737

Institutional Source

Beutler Lab

Gene Symbol

Ceacam5

Ensembl Gene

ENSMUSG00000008789

Gene Name

carcinoembryonic antigen-related cell adhesion molecule 5

Synonyms

Psg30, 1600029H12Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R4335 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

17713238-17761132 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 17752129 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 517 (R517Q)

Ref Sequence

ENSEMBL: ENSMUSP00000080582 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081907]

Predicted Effect

probably benign
Transcript: ENSMUST00000081907
AA Change: R517Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000080582
Gene: ENSMUSG00000008789
AA Change: R517Q

Domain	Start	End	E-Value	Type
IG	40	141	4.46e-1	SMART
IG_like	160	261	2.96e1	SMART
IG_like	277	378	5.86e0	SMART
IG_like	397	496	4.07e1	SMART
IG	514	615	2.64e0	SMART
IG_like	634	735	2.81e1	SMART
IG	753	853	1.72e-2	SMART
IGc2	869	933	1.28e-10	SMART

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931409K22Rik	A	G	5: 24,544,370	L710P	probably damaging	Het
Abca9	G	A	11: 110,152,017	T402M	probably damaging	Het
Apbb1ip	G	A	2: 22,871,562		probably null	Het
Armh1	A	T	4: 117,214,463	I308N	probably damaging	Het
Clic4	C	T	4: 135,218,605	S167N	probably benign	Het
Ehbp1l1	A	T	19: 5,708,769	L1644Q	probably damaging	Het
Erh	A	G	12: 80,642,841	L3P	probably benign	Het
Fam71d	T	C	12: 78,712,232	S109P	possibly damaging	Het
Fbxw7	T	C	3: 84,972,495	C375R	probably damaging	Het
Fhdc1	C	A	3: 84,444,826	V1031F	probably benign	Het
Fsd2	A	T	7: 81,542,065	S521R	probably damaging	Het
Hace1	A	G	10: 45,709,961	Y865C	probably damaging	Het
Iqcf1	G	A	9: 106,501,873	R62H	possibly damaging	Het
Kcnv1	G	A	15: 45,114,444	T66M	probably damaging	Het
Leng8	T	C	7: 4,147,038	Y781H	probably damaging	Het
Med8	G	T	4: 118,409,370		probably null	Het
Myo19	G	A	11: 84,908,288	A816T	probably benign	Het
Nat8f2	A	G	6: 85,868,251	L43P	probably damaging	Het
Omd	A	C	13: 49,590,236	D254A	probably benign	Het
Psd2	G	T	18: 36,007,530	A622S	probably damaging	Het
Rnf207	G	A	4: 152,315,605		probably benign	Het
Rsbn1l	T	C	5: 20,908,193	I444V	probably null	Het
Rxfp1	A	G	3: 79,686,798		probably null	Het
Selenot	C	A	3: 58,585,301	R70S	possibly damaging	Het
Sox6	A	G	7: 115,512,724	S557P	probably benign	Het
Sp9	G	A	2: 73,274,289	V396M	probably damaging	Het
Ston1	T	C	17: 88,635,697	F177S	probably damaging	Het
Syne2	A	G	12: 76,028,092	E4602G	probably damaging	Het
Tbc1d19	A	G	5: 53,872,277	T327A	possibly damaging	Het
Tsga13	T	C	6: 30,900,045	D179G	probably damaging	Het
Wdr27	T	A	17: 14,920,756		probably null	Het

Other mutations in Ceacam5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00419:Ceacam5	APN	7	17759556	nonsense	probably null
IGL00981:Ceacam5	APN	7	17745533	missense	probably benign	0.08
IGL01314:Ceacam5	APN	7	17747256	nonsense	probably null
IGL01329:Ceacam5	APN	7	17745609	missense	probably damaging	0.98
IGL01389:Ceacam5	APN	7	17747375	missense	probably damaging	0.96
IGL01418:Ceacam5	APN	7	17745599	missense	probably damaging	1.00
IGL02418:Ceacam5	APN	7	17759434	missense	possibly damaging	0.71
IGL02734:Ceacam5	APN	7	17750812	missense	probably damaging	1.00
IGL03220:Ceacam5	APN	7	17760728	missense	probably damaging	1.00
IGL03377:Ceacam5	APN	7	17715131	missense	probably benign	0.15
IGL03395:Ceacam5	APN	7	17745379	splice site	probably benign
IGL03054:Ceacam5	UTSW	7	17759454	missense	possibly damaging	0.71
R0456:Ceacam5	UTSW	7	17760851	missense	possibly damaging	0.63
R0624:Ceacam5	UTSW	7	17714963	missense	probably benign	0.03
R0847:Ceacam5	UTSW	7	17757837	missense	possibly damaging	0.71
R0879:Ceacam5	UTSW	7	17757702	missense	probably benign	0.16
R0945:Ceacam5	UTSW	7	17747344	missense	probably damaging	1.00
R1382:Ceacam5	UTSW	7	17752165	missense	probably benign	0.33
R1474:Ceacam5	UTSW	7	17747234	missense	probably damaging	1.00
R1526:Ceacam5	UTSW	7	17750695	missense	probably damaging	1.00
R1793:Ceacam5	UTSW	7	17747395	missense	probably benign	0.01
R1851:Ceacam5	UTSW	7	17714910	nonsense	probably null
R1907:Ceacam5	UTSW	7	17752384	missense	possibly damaging	0.85
R1913:Ceacam5	UTSW	7	17759577	nonsense	probably null
R1990:Ceacam5	UTSW	7	17757880	missense	probably damaging	0.99
R1999:Ceacam5	UTSW	7	17747247	missense	possibly damaging	0.66
R2336:Ceacam5	UTSW	7	17747375	missense	probably benign	0.28
R2355:Ceacam5	UTSW	7	17745635	missense	probably damaging	1.00
R3106:Ceacam5	UTSW	7	17747323	missense	probably benign	0.06
R3423:Ceacam5	UTSW	7	17757637	missense	possibly damaging	0.52
R3432:Ceacam5	UTSW	7	17714976	missense	probably benign	0.06
R3686:Ceacam5	UTSW	7	17760823	missense	possibly damaging	0.94
R3713:Ceacam5	UTSW	7	17759338	missense	possibly damaging	0.52
R3878:Ceacam5	UTSW	7	17750581	missense	probably damaging	1.00
R4214:Ceacam5	UTSW	7	17752151	missense	probably benign	0.00
R4725:Ceacam5	UTSW	7	17760677	missense	probably benign	0.26
R4823:Ceacam5	UTSW	7	17757744	missense	possibly damaging	0.71
R4833:Ceacam5	UTSW	7	17752258	missense	probably benign
R4986:Ceacam5	UTSW	7	17757833	missense	possibly damaging	0.85
R5099:Ceacam5	UTSW	7	17745588	missense	probably damaging	0.96
R5365:Ceacam5	UTSW	7	17759548	missense	probably damaging	0.98
R5522:Ceacam5	UTSW	7	17715080	missense	probably benign
R5605:Ceacam5	UTSW	7	17747236	missense	probably benign	0.03
R6199:Ceacam5	UTSW	7	17714885	missense	probably benign	0.00
R6222:Ceacam5	UTSW	7	17745547	missense	probably benign	0.15
R6320:Ceacam5	UTSW	7	17747198	missense	probably damaging	1.00
R6464:Ceacam5	UTSW	7	17747466	critical splice donor site	probably null
R6521:Ceacam5	UTSW	7	17750831	critical splice donor site	probably null
R6568:Ceacam5	UTSW	7	17745491	missense	probably damaging	1.00
R6573:Ceacam5	UTSW	7	17713447	start codon destroyed	probably null	0.70
R6814:Ceacam5	UTSW	7	17752287	nonsense	probably null
R6872:Ceacam5	UTSW	7	17752287	nonsense	probably null
R6930:Ceacam5	UTSW	7	17750834	splice site	probably null
R7071:Ceacam5	UTSW	7	17750652	missense	possibly damaging	0.49
R7121:Ceacam5	UTSW	7	17745537	missense	probably benign	0.29
R7174:Ceacam5	UTSW	7	17757914	critical splice donor site	probably null
R7187:Ceacam5	UTSW	7	17759485	missense	possibly damaging	0.85
R7355:Ceacam5	UTSW	7	17747387	missense	probably damaging	1.00
R7411:Ceacam5	UTSW	7	17750753	missense	probably damaging	0.99
R7462:Ceacam5	UTSW	7	17760839	missense	probably damaging	1.00
R7612:Ceacam5	UTSW	7	17759416	missense	possibly damaging	0.86
R7803:Ceacam5	UTSW	7	17759392	missense	probably damaging	0.98
R7943:Ceacam5	UTSW	7	17745566	missense	probably benign	0.26
R8342:Ceacam5	UTSW	7	17752246	missense	possibly damaging	0.53
R8356:Ceacam5	UTSW	7	17745699	missense	possibly damaging	0.68
R8426:Ceacam5	UTSW	7	17759341	missense	possibly damaging	0.51
R8456:Ceacam5	UTSW	7	17745699	missense	possibly damaging	0.68
R8534:Ceacam5	UTSW	7	17750746	missense	probably benign	0.20
X0020:Ceacam5	UTSW	7	17760909	missense	probably damaging	1.00

Predicted Primers

Posted On

2015-06-24