Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02418:Ceacam5'

292527

Institutional Source

Australian Phenomics Network (link to record)

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: 0.055) question?

Stock #

IGL02418

Quality Score

Status

Chromosome

Chromosomal Location

17447163-17495057 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 17493359 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 794 (Y794F)

Ref Sequence

ENSEMBL: ENSMUSP00000080582 (fasta)

Gene Model

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

AlphaFold

Q3UKK2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000081907
AA Change: Y794F

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000080582
Gene: ENSMUSG00000008789
AA Change: Y794F

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	T	A	16: 56,424,479 (GRCm39)		probably benign	Het
Acsbg2	A	G	17: 57,156,730 (GRCm39)	V436A	probably benign	Het
Afap1l1	T	C	18: 61,885,648 (GRCm39)	D156G	probably damaging	Het
Arhgap21	G	A	2: 20,885,711 (GRCm39)	R489C	probably damaging	Het
Arhgap26	G	A	18: 39,490,620 (GRCm39)		probably benign	Het
Bbs5	T	G	2: 69,485,849 (GRCm39)	*89G	probably null	Het
Ces3b	T	C	8: 105,812,279 (GRCm39)	V176A	probably damaging	Het
Cfi	A	G	3: 129,642,461 (GRCm39)	H105R	probably benign	Het
Chat	C	T	14: 32,168,906 (GRCm39)	V210I	possibly damaging	Het
Chd1l	A	G	3: 97,488,415 (GRCm39)	S534P	probably benign	Het
Cyb5rl	T	C	4: 106,928,182 (GRCm39)	L106P	probably damaging	Het
Cyp21a1	A	G	17: 35,023,162 (GRCm39)		probably benign	Het
Dnah12	T	C	14: 26,495,679 (GRCm39)	C1436R	probably damaging	Het
Flg2	T	A	3: 93,108,361 (GRCm39)	F130I	probably benign	Het
Fryl	T	A	5: 73,267,519 (GRCm39)		probably benign	Het
Galnt10	T	C	11: 57,671,994 (GRCm39)	V428A	probably benign	Het
Ganab	A	G	19: 8,888,433 (GRCm39)	D496G	probably null	Het
Gapvd1	T	C	2: 34,620,530 (GRCm39)	T44A	probably benign	Het
Gm17093	T	A	14: 44,758,185 (GRCm39)	M122K	unknown	Het
Gm5356	A	T	8: 89,914,064 (GRCm39)		noncoding transcript	Het
Gmppa	G	T	1: 75,415,664 (GRCm39)	G126C	probably damaging	Het
Il23r	T	C	6: 67,467,656 (GRCm39)	H37R	possibly damaging	Het
Itga11	A	G	9: 62,651,914 (GRCm39)	I349V	probably benign	Het
Lrrc42	A	T	4: 107,100,533 (GRCm39)	Y159*	probably null	Het
Naa16	C	A	14: 79,620,806 (GRCm39)	R57L	probably damaging	Het
Ntmt2	A	T	1: 163,530,725 (GRCm39)	V238E	probably damaging	Het
Or8g4	A	G	9: 39,661,787 (GRCm39)	Y35C	probably damaging	Het
Oxtr	A	T	6: 112,454,200 (GRCm39)	H21Q	probably damaging	Het
Paqr7	A	G	4: 134,234,284 (GRCm39)	Y47C	probably damaging	Het
Paxbp1	A	C	16: 90,831,000 (GRCm39)	C459G	probably damaging	Het
Pnp2	C	T	14: 51,201,293 (GRCm39)	R222C	possibly damaging	Het
Rtl1	T	C	12: 109,556,883 (GRCm39)	D1652G	probably damaging	Het
Saxo5	T	A	8: 3,526,080 (GRCm39)	F78I	probably damaging	Het
Shoc1	A	T	4: 59,049,075 (GRCm39)		probably benign	Het
Spata4	C	A	8: 55,062,978 (GRCm39)	N294K	probably benign	Het
Tcp11l2	T	A	10: 84,449,470 (GRCm39)	Y478*	probably null	Het
Tcte1	T	A	17: 45,852,128 (GRCm39)	S454T	probably benign	Het
Thsd4	C	T	9: 60,335,598 (GRCm39)	V105I	probably damaging	Het
Tmem117	T	A	15: 94,829,765 (GRCm39)	I200N	probably benign	Het
Tpgs1	G	A	10: 79,505,289 (GRCm39)	V16M	probably benign	Het
Ttn	G	T	2: 76,797,447 (GRCm39)	T539K	probably benign	Het
Usp24	A	G	4: 106,293,557 (GRCm39)	S2542G	probably benign	Het
Vmn2r44	A	T	7: 8,380,864 (GRCm39)	L343H	probably damaging	Het
Zmat2	T	A	18: 36,927,392 (GRCm39)	Y21N	probably damaging	Het
Zyx	C	T	6: 42,334,327 (GRCm39)	A517V	probably damaging	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
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
R4335:Ceacam5	UTSW	7	17,486,054 (GRCm39)	missense	probably benign
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

Posted On

2015-04-16