Mutagenetix > Incidental Mutation

Incidental Mutation 'R0077:Krt18'

19511

Institutional Source

Beutler Lab

Gene Symbol

Krt18

Ensembl Gene

ENSMUSG00000023043

Gene Name

keratin 18

Synonyms

Endo B, K18, CK18, Krt1-18

MMRRC Submission

038364-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0077 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

101936651-101940461 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 101939409 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 294 (R294L)

Ref Sequence

ENSEMBL: ENSMUSP00000023803 (fasta)

Gene Model

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

AlphaFold

P05784

Predicted Effect

probably benign
Transcript: ENSMUST00000023803
AA Change: R294L

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000023803
Gene: ENSMUSG00000023043
AA Change: R294L

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

Meta Mutation Damage Score

0.2001

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.4%
20x: 90.5%

Validation Efficiency

83% (159/192)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl3	T	C	5: 81,919,532 (GRCm39)		probably benign	Het
Adgrl4	A	G	3: 151,223,418 (GRCm39)	I624V	probably damaging	Het
AI661453	A	G	17: 47,780,287 (GRCm39)		probably benign	Het
Alg12	C	T	15: 88,700,181 (GRCm39)	E60K	probably damaging	Het
Angel2	A	T	1: 190,665,284 (GRCm39)	N72Y	possibly damaging	Het
Ank1	C	A	8: 23,630,183 (GRCm39)	P81Q	probably damaging	Het
Atp6v1c2	A	T	12: 17,371,613 (GRCm39)	D61E	probably damaging	Het
Bpi	T	A	2: 158,103,254 (GRCm39)	M83K	probably damaging	Het
Capn7	A	G	14: 31,090,072 (GRCm39)	I642V	probably benign	Het
Ccdc134	T	C	15: 82,015,938 (GRCm39)		probably benign	Het
Ccr3	C	T	9: 123,829,061 (GRCm39)	T132I	probably damaging	Het
Cfap65	C	A	1: 74,971,077 (GRCm39)	W80C	probably damaging	Het
Chaf1a	T	A	17: 56,354,384 (GRCm39)	I218K	unknown	Het
Ddx23	A	G	15: 98,554,481 (GRCm39)		probably null	Het
Dmkn	A	G	7: 30,464,719 (GRCm39)	S231G	probably benign	Het
Ep300	T	C	15: 81,525,514 (GRCm39)	I1446T	unknown	Het
Fmnl1	T	C	11: 103,080,795 (GRCm39)	F318S	probably damaging	Het
Grik5	A	T	7: 24,722,805 (GRCm39)	V497E	probably damaging	Het
Gtf2ird2	T	C	5: 134,242,925 (GRCm39)	Y380H	probably damaging	Het
Hecw2	C	T	1: 53,907,990 (GRCm39)		probably benign	Het
Hspb7	A	G	4: 141,151,358 (GRCm39)	I167V	probably damaging	Het
Kcnh2	T	A	5: 24,527,700 (GRCm39)	N884I	probably benign	Het
Krba1	T	C	6: 48,382,159 (GRCm39)		probably benign	Het
Lctl	T	A	9: 64,029,389 (GRCm39)	M1K	probably null	Het
Lingo2	G	A	4: 35,708,375 (GRCm39)	S535F	possibly damaging	Het
Lrba	A	C	3: 86,449,995 (GRCm39)	N2105H	probably damaging	Het
Lrrc10	A	G	10: 116,881,419 (GRCm39)	D31G	probably damaging	Het
Lrrtm1	T	A	6: 77,220,855 (GRCm39)	V104E	probably damaging	Het
Mgat3	C	T	15: 80,096,778 (GRCm39)	T535I	probably benign	Het
Nav3	T	C	10: 109,552,503 (GRCm39)	I1780V	possibly damaging	Het
Nlrc4	A	G	17: 74,753,826 (GRCm39)	W186R	probably damaging	Het
Nr2c1	T	A	10: 94,024,117 (GRCm39)	F441I	probably benign	Het
Obscn	A	G	11: 58,942,347 (GRCm39)		probably benign	Het
Or1p1	T	C	11: 74,179,501 (GRCm39)	F10L	probably benign	Het
Or2a56	T	C	6: 42,932,707 (GRCm39)	S92P	probably benign	Het
Or56b34	T	C	7: 104,937,726 (GRCm39)	V142A	probably damaging	Het
Or5au1	T	C	14: 52,273,442 (GRCm39)	N42S	possibly damaging	Het
Osr1	A	T	12: 9,629,691 (GRCm39)	Y188F	probably damaging	Het
Pak2	A	T	16: 31,852,661 (GRCm39)	N293K	possibly damaging	Het
Pappa	A	T	4: 65,226,049 (GRCm39)	T1301S	probably damaging	Het
Pde4dip	G	A	3: 97,660,442 (GRCm39)	Q679*	probably null	Het
Pik3r5	T	A	11: 68,377,448 (GRCm39)		probably null	Het
Plbd2	C	T	5: 120,624,104 (GRCm39)		probably null	Het
Ppp1r3a	G	T	6: 14,754,516 (GRCm39)	P244T	possibly damaging	Het
Pum1	C	A	4: 130,499,985 (GRCm39)	R960S	probably benign	Het
Ralgapb	T	C	2: 158,315,169 (GRCm39)	Y845H	probably damaging	Het
Rbms1	A	T	2: 60,589,179 (GRCm39)	M287K	possibly damaging	Het
Rdh1	A	T	10: 127,595,906 (GRCm39)	I34F	probably damaging	Het
Rgl3	T	A	9: 21,885,398 (GRCm39)	Q644L	probably benign	Het
Rpap2	T	C	5: 107,768,340 (GRCm39)	S393P	probably damaging	Het
Rsad2	T	C	12: 26,506,376 (GRCm39)	S15G	probably damaging	Het
Rspo1	G	A	4: 124,885,190 (GRCm39)	R22Q	probably benign	Het
S100a11	A	C	3: 93,431,509 (GRCm39)		probably null	Het
Septin4	T	C	11: 87,472,022 (GRCm39)	S11P	probably benign	Het
Serpina1c	T	C	12: 103,862,350 (GRCm39)	S322G	probably benign	Het
Setdb1	A	T	3: 95,248,762 (GRCm39)	C385S	probably damaging	Het
Shank2	A	T	7: 143,746,204 (GRCm39)	I193F	possibly damaging	Het
Slc4a11	G	T	2: 130,528,221 (GRCm39)		probably benign	Het
Snrnp40	C	G	4: 130,271,836 (GRCm39)		probably null	Het
Tbcd	C	A	11: 121,485,100 (GRCm39)	Q761K	probably benign	Het
Tmed6	C	T	8: 107,792,198 (GRCm39)	V16M	probably damaging	Het
Tmem229a	T	C	6: 24,955,701 (GRCm39)	T18A	probably benign	Het
Tsc1	T	A	2: 28,568,955 (GRCm39)		probably benign	Het
Ube2m	T	C	7: 12,769,657 (GRCm39)	N49D	probably damaging	Het
Ubqlnl	T	C	7: 103,799,254 (GRCm39)	D81G	probably damaging	Het
Vmn2r56	A	G	7: 12,449,332 (GRCm39)	V302A	probably benign	Het
Vmn2r73	T	A	7: 85,525,075 (GRCm39)	R24S	probably benign	Het
Wfs1	C	A	5: 37,130,538 (GRCm39)	S236I	probably damaging	Het
Xpot	A	T	10: 121,441,544 (GRCm39)	N560K	probably benign	Het
Yipf3	A	G	17: 46,562,503 (GRCm39)	T303A	probably benign	Het
Zfp790	T	C	7: 29,524,300 (GRCm39)	W19R	probably damaging	Het
Zfp846	T	C	9: 20,505,303 (GRCm39)	C388R	probably benign	Het
Zpr1	T	A	9: 46,184,634 (GRCm39)	I47N	probably damaging	Het

Other mutations in Krt18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02656:Krt18	APN	15	101,939,357 (GRCm39)	missense	probably benign	0.07
IGL02666:Krt18	APN	15	101,938,302 (GRCm39)	missense	probably damaging	1.00
PIT4378001:Krt18	UTSW	15	101,938,358 (GRCm39)	missense	probably benign	0.20
R0650:Krt18	UTSW	15	101,937,920 (GRCm39)	missense	possibly damaging	0.60
R0651:Krt18	UTSW	15	101,937,920 (GRCm39)	missense	possibly damaging	0.60
R0947:Krt18	UTSW	15	101,939,163 (GRCm39)	missense	possibly damaging	0.57
R1015:Krt18	UTSW	15	101,939,735 (GRCm39)	missense	probably benign	0.00
R1219:Krt18	UTSW	15	101,939,723 (GRCm39)	splice site	probably benign
R1328:Krt18	UTSW	15	101,939,169 (GRCm39)	missense	probably benign	0.00
R2051:Krt18	UTSW	15	101,937,935 (GRCm39)	missense	probably benign	0.19
R2082:Krt18	UTSW	15	101,939,455 (GRCm39)	splice site	probably null
R3735:Krt18	UTSW	15	101,936,936 (GRCm39)	missense	probably benign	0.39
R4696:Krt18	UTSW	15	101,940,293 (GRCm39)	missense	probably benign	0.12
R5211:Krt18	UTSW	15	101,939,888 (GRCm39)	missense	probably damaging	0.97
R5320:Krt18	UTSW	15	101,936,955 (GRCm39)	missense	probably damaging	0.99
R5805:Krt18	UTSW	15	101,939,735 (GRCm39)	missense	probably benign	0.40
R6736:Krt18	UTSW	15	101,939,204 (GRCm39)	missense	probably benign	0.38
R7221:Krt18	UTSW	15	101,937,967 (GRCm39)	missense	possibly damaging	0.66
R7543:Krt18	UTSW	15	101,939,896 (GRCm39)	missense	probably damaging	0.99
R7873:Krt18	UTSW	15	101,939,391 (GRCm39)	missense	probably benign	0.06
R7883:Krt18	UTSW	15	101,936,885 (GRCm39)	missense	possibly damaging	0.63
R8837:Krt18	UTSW	15	101,938,265 (GRCm39)	missense	possibly damaging	0.50
R8988:Krt18	UTSW	15	101,937,962 (GRCm39)	missense	probably damaging	1.00
R8998:Krt18	UTSW	15	101,939,874 (GRCm39)	missense	probably damaging	0.99
R8999:Krt18	UTSW	15	101,939,874 (GRCm39)	missense	probably damaging	0.99
X0064:Krt18	UTSW	15	101,938,397 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CCACTCCGCTTAAGGTAAGCTCTG -3'
(R):5'- CCGAGGCTGTTCTCCAAGTTGATG -3'

Sequencing Primer
(F):5'- CTTAAGGTAAGCTCTGTGTGAAG -3'
(R):5'- GAGAGTGAGTCTCTACTCTTAGCC -3'

Posted On

2013-04-11