Mutagenetix > Incidental Mutation

Incidental Mutation 'R7873:Krt18'

608284

Institutional Source

Beutler Lab

Gene Symbol

Krt18

Ensembl Gene

ENSMUSG00000023043

Gene Name

keratin 18

Synonyms

Endo B, K18, CK18, Krt1-18

MMRRC Submission

045925-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7873 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

101936651-101940461 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 101939391 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 288 (T288I)

Ref Sequence

ENSEMBL: ENSMUSP00000023803 (fasta)

Gene Model

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

AlphaFold

P05784

Predicted Effect

probably benign
Transcript: ENSMUST00000023803
AA Change: T288I

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000023803
Gene: ENSMUSG00000023043
AA Change: T288I

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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	A	T	16: 4,684,091 (GRCm39)	I229F	probably benign	Het
Abca14	T	C	7: 119,888,792 (GRCm39)	L1246S	probably benign	Het
Abtb3	T	C	10: 85,466,989 (GRCm39)	V685A	possibly damaging	Het
Acacb	A	C	5: 114,361,339 (GRCm39)	S1340R	possibly damaging	Het
Ankrd6	A	T	4: 32,806,499 (GRCm39)	S585T	possibly damaging	Het
Ark2c	T	C	18: 77,554,449 (GRCm39)	D248G	possibly damaging	Het
Ccdc54	A	G	16: 50,410,672 (GRCm39)	V198A	probably benign	Het
Cnga4	A	G	7: 105,056,249 (GRCm39)	I387V	probably damaging	Het
Creg1	G	T	1: 165,597,448 (GRCm39)	D141Y	probably damaging	Het
Cxcr2	T	C	1: 74,198,166 (GRCm39)	L220P	probably benign	Het
Dennd5a	T	A	7: 109,526,141 (GRCm39)	I344F	probably damaging	Het
Dysf	A	G	6: 84,060,747 (GRCm39)	N448S	probably benign	Het
Efcab6	A	G	15: 83,902,826 (GRCm39)		probably null	Het
Elf2	C	A	3: 51,164,099 (GRCm39)	V489F	probably damaging	Het
Elmod2	G	T	8: 84,057,848 (GRCm39)	H12N	probably benign	Het
Eln	C	T	5: 134,740,041 (GRCm39)	G618E	unknown	Het
Fbxo33	G	T	12: 59,265,807 (GRCm39)	S153R	possibly damaging	Het
Fbxw7	A	T	3: 84,833,071 (GRCm39)	I38F	possibly damaging	Het
Flnc	G	A	6: 29,456,990 (GRCm39)	V2329I	possibly damaging	Het
Fsip2	C	T	2: 82,779,856 (GRCm39)	R201C	probably damaging	Het
Gpr155	T	C	2: 73,173,934 (GRCm39)	E825G	possibly damaging	Het
Grk3	A	T	5: 113,077,552 (GRCm39)	M405K	probably benign	Het
H2bc7	A	T	13: 23,758,244 (GRCm39)	Y41N	probably damaging	Het
Hace1	T	C	10: 45,548,883 (GRCm39)	V597A	possibly damaging	Het
Ido1	A	G	8: 25,074,758 (GRCm39)	F295S	probably damaging	Het
Ighe	T	A	12: 113,234,942 (GRCm39)	E406V		Het
Ighv1-31	G	T	12: 114,793,274 (GRCm39)	A15E	probably benign	Het
Ighv1-75	A	T	12: 115,797,988 (GRCm39)	L10H	probably damaging	Het
Inpp5e	T	A	2: 26,297,957 (GRCm39)	K215*	probably null	Het
Iqcn	A	G	8: 71,163,989 (GRCm39)	M1061V	probably benign	Het
Lrwd1	A	T	5: 136,152,792 (GRCm39)	I490N	probably benign	Het
Macf1	T	A	4: 123,398,344 (GRCm39)		probably null	Het
Mapk8ip3	A	G	17: 25,125,146 (GRCm39)	V482A	probably benign	Het
Mcidas	G	A	13: 113,135,521 (GRCm39)	G315S	probably damaging	Het
Mdk	A	G	2: 91,761,773 (GRCm39)	F7S	probably benign	Het
Mycbp2	G	A	14: 103,393,582 (GRCm39)	P2993L	probably damaging	Het
Niban3	A	T	8: 72,054,892 (GRCm39)	I193F	probably damaging	Het
Nme4	A	T	17: 26,312,862 (GRCm39)	Y99N	probably damaging	Het
Nr1d2	G	A	14: 18,216,656 (GRCm38)	R171*	probably null	Het
Or10h28	A	G	17: 33,488,348 (GRCm39)	I217V	probably benign	Het
Osgep	G	T	14: 51,153,347 (GRCm39)	T326K	probably damaging	Het
Pdgfd	C	T	9: 6,337,271 (GRCm39)	T201M	probably benign	Het
Pdk4	T	C	6: 5,487,086 (GRCm39)	D320G	probably benign	Het
Pelp1	A	T	11: 70,285,552 (GRCm39)	V772D	probably damaging	Het
Pkdrej	T	A	15: 85,700,724 (GRCm39)	R1737S	probably benign	Het
Ppp1r13b	A	T	12: 111,801,320 (GRCm39)	Y578N	probably damaging	Het
Ppp1r3b	A	C	8: 35,851,329 (GRCm39)	K56T	probably benign	Het
Prdm11	G	T	2: 92,819,628 (GRCm39)	H261N	probably benign	Het
Preb	T	A	5: 31,116,109 (GRCm39)	N166I	probably benign	Het
Psd3	T	C	8: 68,335,634 (GRCm39)	K681R	possibly damaging	Het
Ptgs1	G	A	2: 36,141,292 (GRCm39)	V580I	probably damaging	Het
Ptpro	T	A	6: 137,407,737 (GRCm39)	S949T	probably benign	Het
Pum2	A	G	12: 8,798,802 (GRCm39)	E973G	possibly damaging	Het
Rdh1	A	G	10: 127,595,892 (GRCm39)	D29G	probably benign	Het
Rel	A	G	11: 23,692,957 (GRCm39)	S359P	probably benign	Het
Ryr3	T	A	2: 112,560,773 (GRCm39)	H2996L	probably benign	Het
Scarb1	C	T	5: 125,371,103 (GRCm39)	C323Y	probably damaging	Het
Scn5a	C	T	9: 119,327,193 (GRCm39)	R1309H	probably damaging	Het
Serpinb12	T	A	1: 106,881,469 (GRCm39)	V202E	probably damaging	Het
Shh	A	G	5: 28,663,298 (GRCm39)	L290P	possibly damaging	Het
Six4	CT	C	12: 73,151,013 (GRCm39)		probably benign	Het
Slc34a2	G	A	5: 53,215,714 (GRCm39)	G42R	probably benign	Het
Slc41a1	A	G	1: 131,758,561 (GRCm39)	N68D	possibly damaging	Het
Slc7a6os	A	G	8: 106,937,356 (GRCm39)	S64P	probably damaging	Het
Slco1a7	T	A	6: 141,673,448 (GRCm39)	L363F	probably benign	Het
Smc1b	A	G	15: 84,994,851 (GRCm39)		probably null	Het
Snx9	T	C	17: 5,968,751 (GRCm39)	V349A	possibly damaging	Het
Sstr1	G	T	12: 58,260,313 (GRCm39)	G312V	probably damaging	Het
Tnfsf10	A	G	3: 27,389,808 (GRCm39)	I290V	probably benign	Het
Trio	A	G	15: 27,805,770 (GRCm39)	C1717R	possibly damaging	Het
Ttbk1	T	G	17: 46,757,494 (GRCm39)	S1047R	probably damaging	Het
Ttn	T	C	2: 76,746,877 (GRCm39)	D4724G	probably benign	Het
Uba1y	T	A	Y: 825,542 (GRCm39)	N301K	probably benign	Het
Unc5c	A	G	3: 141,533,310 (GRCm39)	T853A	probably benign	Het
Vmn2r45	T	A	7: 8,486,074 (GRCm39)	I405L	probably benign	Het
Wdr37	A	T	13: 8,855,969 (GRCm39)	M458K	probably damaging	Het
Zdhhc14	A	T	17: 5,762,729 (GRCm39)	Y211F	probably benign	Het
Zfp108	G	A	7: 23,960,758 (GRCm39)	V450I	probably benign	Het
Zfp212	A	T	6: 47,907,860 (GRCm39)	R280*	probably null	Het
Zfp940	A	T	7: 29,535,042 (GRCm39)	V108E	unknown	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
R0077:Krt18	UTSW	15	101,939,409 (GRCm39)	missense	probably benign	0.01
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
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'- CTGGACAAGTACTGGTCTCAGC -3'
(R):5'- AGTGATTCATCTTAGGGAATCGC -3'

Sequencing Primer
(F):5'- CAAGTACTGGTCTCAGCAGGTAC -3'
(R):5'- CATCTTAGGGAATCGCTTGATTG -3'

Posted On

2019-12-20