Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02656:Krt18'

302348

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Krt18

Ensembl Gene

ENSMUSG00000023043

Gene Name

keratin 18

Synonyms

Endo B, K18, CK18, Krt1-18

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02656

Quality Score

Status

Chromosome

Chromosomal Location

102028180-102032027 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 102030922 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 277 (T277A)

Ref Sequence

ENSEMBL: ENSMUSP00000023803 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023803]

Predicted Effect

probably benign
Transcript: ENSMUST00000023803
AA Change: T277A

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000023803
Gene: ENSMUSG00000023043
AA Change: T277A

Domain	Start	End	E-Value	Type
low complexity region	2	12	N/A	INTRINSIC
low complexity region	30	68	N/A	INTRINSIC
Filament	71	384	3.69e-166	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] KRT18 encodes the type I intermediate filament chain keratin 18. Keratin 18, together with its filament partner keratin 8, are perhaps the most commonly found members of the intermediate filament gene family. They are expressed in single layer epithelial tissues of the body. Mutations in this gene have been linked to cryptogenic cirrhosis. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene are viable, fertile, and live normal life spans. They do, however, develop hepatomegaly by 18 months of age. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd28	G	T	14: 31,702,240	A981D	possibly damaging	Het
Ccdc69	G	T	11: 55,052,437	Q114K	possibly damaging	Het
Cct5	A	T	15: 31,597,430	D66E	probably damaging	Het
Ces2e	G	T	8: 104,927,056	R42I	possibly damaging	Het
Cib2	T	G	9: 54,545,898	D178A	probably damaging	Het
Cldn7	G	A	11: 69,967,008	V97I	probably benign	Het
Dok3	A	T	13: 55,528,480	I12N	probably damaging	Het
Fndc5	T	A	4: 129,139,446	V102E	probably damaging	Het
Gas2	T	C	7: 51,943,744	S191P	probably benign	Het
Herc6	T	A	6: 57,611,836		probably null	Het
Mpp3	A	G	11: 102,008,601	S365P	probably benign	Het
Msmo1	T	C	8: 64,727,872	T3A	probably benign	Het
Olfr1509	G	T	14: 52,450,709	A99S	possibly damaging	Het
Olfr1537	T	A	9: 39,238,160	E88V	probably benign	Het
Olfr394	A	G	11: 73,888,039	F111S	probably damaging	Het
Pex19	C	A	1: 172,130,685	A77E	probably benign	Het
Phf20l1	A	G	15: 66,629,827	D620G	probably damaging	Het
Prr5	A	G	15: 84,699,136	D105G	probably damaging	Het
Rab12	T	A	17: 66,506,054	K88M	probably damaging	Het
Rictor	T	C	15: 6,776,920	V673A	probably damaging	Het
Rps26	A	G	10: 128,625,257	S88P	possibly damaging	Het
Sema5a	T	A	15: 32,631,285	S605T	possibly damaging	Het
Slc35a4	T	C	18: 36,682,447	M110T	probably damaging	Het
Sowahb	T	C	5: 93,043,247	S538G	probably benign	Het
Srrt	T	A	5: 137,299,676		probably benign	Het
Ssbp2	G	A	13: 91,669,752		probably benign	Het
Supt20	C	T	3: 54,708,395	R236W	probably damaging	Het
Tenm4	A	G	7: 96,885,433	D1791G	probably damaging	Het
Tgm6	G	A	2: 130,145,103	G497D	probably damaging	Het
Trim12c	C	T	7: 104,341,203	V356I	probably damaging	Het
Vwce	T	A	19: 10,664,352	I814K	probably benign	Het

Other mutations in Krt18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02666:Krt18	APN	15	102029867	missense	probably damaging	1.00
PIT4378001:Krt18	UTSW	15	102029923	missense	probably benign	0.20
R0077:Krt18	UTSW	15	102030974	missense	probably benign	0.01
R0650:Krt18	UTSW	15	102029485	missense	possibly damaging	0.60
R0651:Krt18	UTSW	15	102029485	missense	possibly damaging	0.60
R0947:Krt18	UTSW	15	102030728	missense	possibly damaging	0.57
R1015:Krt18	UTSW	15	102031300	missense	probably benign	0.00
R1219:Krt18	UTSW	15	102031288	splice site	probably benign
R1328:Krt18	UTSW	15	102030734	missense	probably benign	0.00
R2051:Krt18	UTSW	15	102029500	missense	probably benign	0.19
R2082:Krt18	UTSW	15	102031020	splice site	probably null
R3735:Krt18	UTSW	15	102028501	missense	probably benign	0.39
R4696:Krt18	UTSW	15	102031858	missense	probably benign	0.12
R5211:Krt18	UTSW	15	102031453	missense	probably damaging	0.97
R5320:Krt18	UTSW	15	102028520	missense	probably damaging	0.99
R5805:Krt18	UTSW	15	102031300	missense	probably benign	0.40
R6736:Krt18	UTSW	15	102030769	missense	probably benign	0.38
R7221:Krt18	UTSW	15	102029532	missense	possibly damaging	0.66
R7543:Krt18	UTSW	15	102031461	missense	probably damaging	0.99
R7873:Krt18	UTSW	15	102030956	missense	probably benign	0.06
R7883:Krt18	UTSW	15	102028450	missense	possibly damaging	0.63
X0064:Krt18	UTSW	15	102029962	missense	probably damaging	0.99

Posted On

2015-04-16