Mutagenetix > Incidental Mutation

Incidental Mutation 'R4335:Ceacam5'

323737

Institutional Source

Beutler Lab

Gene Symbol

Ceacam5

Ensembl Gene

ENSMUSG00000008789

Gene Name

CEA cell adhesion molecule 5

Synonyms

Psg30, 1600029H12Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.054) question?

Stock #

R4335 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

17447163-17495057 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 17486054 bp (GRCm39)

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]

AlphaFold

Q3UKK2

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
Abca9	G	A	11: 110,042,843 (GRCm39)	T402M	probably damaging	Het
Apbb1ip	G	A	2: 22,761,574 (GRCm39)		probably null	Het
Armh1	A	T	4: 117,071,660 (GRCm39)	I308N	probably damaging	Het
Clic4	C	T	4: 134,945,916 (GRCm39)	S167N	probably benign	Het
Ehbp1l1	A	T	19: 5,758,797 (GRCm39)	L1644Q	probably damaging	Het
Erh	A	G	12: 80,689,615 (GRCm39)	L3P	probably benign	Het
Fbxw7	T	C	3: 84,879,802 (GRCm39)	C375R	probably damaging	Het
Fhdc1	C	A	3: 84,352,133 (GRCm39)	V1031F	probably benign	Het
Fsd2	A	T	7: 81,191,813 (GRCm39)	S521R	probably damaging	Het
Garin2	T	C	12: 78,759,006 (GRCm39)	S109P	possibly damaging	Het
Hace1	A	G	10: 45,586,057 (GRCm39)	Y865C	probably damaging	Het
Iqca1l	A	G	5: 24,749,368 (GRCm39)	L710P	probably damaging	Het
Iqcf1	G	A	9: 106,379,072 (GRCm39)	R62H	possibly damaging	Het
Kcnv1	G	A	15: 44,977,840 (GRCm39)	T66M	probably damaging	Het
Leng8	T	C	7: 4,150,037 (GRCm39)	Y781H	probably damaging	Het
Med8	G	T	4: 118,266,567 (GRCm39)		probably null	Het
Myo19	G	A	11: 84,799,114 (GRCm39)	A816T	probably benign	Het
Nat8f2	A	G	6: 85,845,233 (GRCm39)	L43P	probably damaging	Het
Omd	A	C	13: 49,743,712 (GRCm39)	D254A	probably benign	Het
Psd2	G	T	18: 36,140,583 (GRCm39)	A622S	probably damaging	Het
Rnf207	G	A	4: 152,400,062 (GRCm39)		probably benign	Het
Rsbn1l	T	C	5: 21,113,191 (GRCm39)	I444V	probably null	Het
Rxfp1	A	G	3: 79,594,105 (GRCm39)		probably null	Het
Selenot	C	A	3: 58,492,722 (GRCm39)	R70S	possibly damaging	Het
Sox6	A	G	7: 115,111,959 (GRCm39)	S557P	probably benign	Het
Sp9	G	A	2: 73,104,633 (GRCm39)	V396M	probably damaging	Het
Ston1	T	C	17: 88,943,125 (GRCm39)	F177S	probably damaging	Het
Syne2	A	G	12: 76,074,866 (GRCm39)	E4602G	probably damaging	Het
Tbc1d19	A	G	5: 54,029,619 (GRCm39)	T327A	possibly damaging	Het
Tsga13	T	C	6: 30,876,980 (GRCm39)	D179G	probably damaging	Het
Wdr27	T	A	17: 15,141,018 (GRCm39)		probably null	Het

Other mutations in Ceacam5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00419:Ceacam5	APN	7	17,493,481 (GRCm39)	nonsense	probably null
IGL00981:Ceacam5	APN	7	17,479,458 (GRCm39)	missense	probably benign	0.08
IGL01314:Ceacam5	APN	7	17,481,181 (GRCm39)	nonsense	probably null
IGL01329:Ceacam5	APN	7	17,479,534 (GRCm39)	missense	probably damaging	0.98
IGL01389:Ceacam5	APN	7	17,481,300 (GRCm39)	missense	probably damaging	0.96
IGL01418:Ceacam5	APN	7	17,479,524 (GRCm39)	missense	probably damaging	1.00
IGL02418:Ceacam5	APN	7	17,493,359 (GRCm39)	missense	possibly damaging	0.71
IGL02734:Ceacam5	APN	7	17,484,737 (GRCm39)	missense	probably damaging	1.00
IGL03220:Ceacam5	APN	7	17,494,653 (GRCm39)	missense	probably damaging	1.00
IGL03377:Ceacam5	APN	7	17,449,056 (GRCm39)	missense	probably benign	0.15
IGL03395:Ceacam5	APN	7	17,479,304 (GRCm39)	splice site	probably benign
IGL03054:Ceacam5	UTSW	7	17,493,379 (GRCm39)	missense	possibly damaging	0.71
R0456:Ceacam5	UTSW	7	17,494,776 (GRCm39)	missense	possibly damaging	0.63
R0624:Ceacam5	UTSW	7	17,448,888 (GRCm39)	missense	probably benign	0.03
R0847:Ceacam5	UTSW	7	17,491,762 (GRCm39)	missense	possibly damaging	0.71
R0879:Ceacam5	UTSW	7	17,491,627 (GRCm39)	missense	probably benign	0.16
R0945:Ceacam5	UTSW	7	17,481,269 (GRCm39)	missense	probably damaging	1.00
R1382:Ceacam5	UTSW	7	17,486,090 (GRCm39)	missense	probably benign	0.33
R1474:Ceacam5	UTSW	7	17,481,159 (GRCm39)	missense	probably damaging	1.00
R1526:Ceacam5	UTSW	7	17,484,620 (GRCm39)	missense	probably damaging	1.00
R1793:Ceacam5	UTSW	7	17,481,320 (GRCm39)	missense	probably benign	0.01
R1851:Ceacam5	UTSW	7	17,448,835 (GRCm39)	nonsense	probably null
R1907:Ceacam5	UTSW	7	17,486,309 (GRCm39)	missense	possibly damaging	0.85
R1913:Ceacam5	UTSW	7	17,493,502 (GRCm39)	nonsense	probably null
R1990:Ceacam5	UTSW	7	17,491,805 (GRCm39)	missense	probably damaging	0.99
R1999:Ceacam5	UTSW	7	17,481,172 (GRCm39)	missense	possibly damaging	0.66
R2336:Ceacam5	UTSW	7	17,481,300 (GRCm39)	missense	probably benign	0.28
R2355:Ceacam5	UTSW	7	17,479,560 (GRCm39)	missense	probably damaging	1.00
R3106:Ceacam5	UTSW	7	17,481,248 (GRCm39)	missense	probably benign	0.06
R3423:Ceacam5	UTSW	7	17,491,562 (GRCm39)	missense	possibly damaging	0.52
R3432:Ceacam5	UTSW	7	17,448,901 (GRCm39)	missense	probably benign	0.06
R3686:Ceacam5	UTSW	7	17,494,748 (GRCm39)	missense	possibly damaging	0.94
R3713:Ceacam5	UTSW	7	17,493,263 (GRCm39)	missense	possibly damaging	0.52
R3878:Ceacam5	UTSW	7	17,484,506 (GRCm39)	missense	probably damaging	1.00
R4214:Ceacam5	UTSW	7	17,486,076 (GRCm39)	missense	probably benign	0.00
R4725:Ceacam5	UTSW	7	17,494,602 (GRCm39)	missense	probably benign	0.26
R4823:Ceacam5	UTSW	7	17,491,669 (GRCm39)	missense	possibly damaging	0.71
R4833:Ceacam5	UTSW	7	17,486,183 (GRCm39)	missense	probably benign
R4986:Ceacam5	UTSW	7	17,491,758 (GRCm39)	missense	possibly damaging	0.85
R5099:Ceacam5	UTSW	7	17,479,513 (GRCm39)	missense	probably damaging	0.96
R5365:Ceacam5	UTSW	7	17,493,473 (GRCm39)	missense	probably damaging	0.98
R5522:Ceacam5	UTSW	7	17,449,005 (GRCm39)	missense	probably benign
R5605:Ceacam5	UTSW	7	17,481,161 (GRCm39)	missense	probably benign	0.03
R6199:Ceacam5	UTSW	7	17,448,810 (GRCm39)	missense	probably benign	0.00
R6222:Ceacam5	UTSW	7	17,479,472 (GRCm39)	missense	probably benign	0.15
R6320:Ceacam5	UTSW	7	17,481,123 (GRCm39)	missense	probably damaging	1.00
R6464:Ceacam5	UTSW	7	17,481,391 (GRCm39)	critical splice donor site	probably null
R6521:Ceacam5	UTSW	7	17,484,756 (GRCm39)	critical splice donor site	probably null
R6568:Ceacam5	UTSW	7	17,479,416 (GRCm39)	missense	probably damaging	1.00
R6573:Ceacam5	UTSW	7	17,447,372 (GRCm39)	start codon destroyed	probably null	0.70
R6814:Ceacam5	UTSW	7	17,486,212 (GRCm39)	nonsense	probably null
R6872:Ceacam5	UTSW	7	17,486,212 (GRCm39)	nonsense	probably null
R6930:Ceacam5	UTSW	7	17,484,759 (GRCm39)	splice site	probably null
R7071:Ceacam5	UTSW	7	17,484,577 (GRCm39)	missense	possibly damaging	0.49
R7121:Ceacam5	UTSW	7	17,479,462 (GRCm39)	missense	probably benign	0.29
R7174:Ceacam5	UTSW	7	17,491,839 (GRCm39)	critical splice donor site	probably null
R7187:Ceacam5	UTSW	7	17,493,410 (GRCm39)	missense	possibly damaging	0.85
R7355:Ceacam5	UTSW	7	17,481,312 (GRCm39)	missense	probably damaging	1.00
R7411:Ceacam5	UTSW	7	17,484,678 (GRCm39)	missense	probably damaging	0.99
R7462:Ceacam5	UTSW	7	17,494,764 (GRCm39)	missense	probably damaging	1.00
R7612:Ceacam5	UTSW	7	17,493,341 (GRCm39)	missense	possibly damaging	0.86
R7803:Ceacam5	UTSW	7	17,493,317 (GRCm39)	missense	probably damaging	0.98
R7943:Ceacam5	UTSW	7	17,479,491 (GRCm39)	missense	probably benign	0.26
R8342:Ceacam5	UTSW	7	17,486,171 (GRCm39)	missense	possibly damaging	0.53
R8356:Ceacam5	UTSW	7	17,479,624 (GRCm39)	missense	possibly damaging	0.68
R8426:Ceacam5	UTSW	7	17,493,266 (GRCm39)	missense	possibly damaging	0.51
R8456:Ceacam5	UTSW	7	17,479,624 (GRCm39)	missense	possibly damaging	0.68
R8534:Ceacam5	UTSW	7	17,484,671 (GRCm39)	missense	probably benign	0.20
R8815:Ceacam5	UTSW	7	17,493,285 (GRCm39)	missense	possibly damaging	0.85
R8871:Ceacam5	UTSW	7	17,494,827 (GRCm39)	missense	probably benign	0.12
R9021:Ceacam5	UTSW	7	17,448,877 (GRCm39)	missense	possibly damaging	0.48
R9157:Ceacam5	UTSW	7	17,493,419 (GRCm39)	missense	possibly damaging	0.71
R9199:Ceacam5	UTSW	7	17,479,350 (GRCm39)	missense	probably benign	0.16
R9372:Ceacam5	UTSW	7	17,481,267 (GRCm39)	missense	possibly damaging	0.84
R9579:Ceacam5	UTSW	7	17,479,561 (GRCm39)	missense	probably damaging	1.00
R9605:Ceacam5	UTSW	7	17,493,520 (GRCm39)	missense	probably damaging	0.98
R9719:Ceacam5	UTSW	7	17,491,835 (GRCm39)	missense	probably damaging	0.97
X0020:Ceacam5	UTSW	7	17,494,834 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

Posted On

2015-06-24