Mutagenetix > Incidental Mutation

Incidental Mutation 'R0650:Krt18'

62234

Institutional Source

Beutler Lab

Gene Symbol

Krt18

Ensembl Gene

ENSMUSG00000023043

Gene Name

keratin 18

Synonyms

Endo B, K18, CK18, Krt1-18

MMRRC Submission

038835-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0650 (G1)

Quality Score

196

Status

Validated

Chromosome

Chromosomal Location

101936651-101940461 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 101937920 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 139 (D139G)

Ref Sequence

ENSEMBL: ENSMUSP00000023803 (fasta)

Gene Model

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

AlphaFold

P05784

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023803
AA Change: D139G

PolyPhen 2 Score 0.599 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000023803
Gene: ENSMUSG00000023043
AA Change: D139G

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

0.1747

Coding Region Coverage

1x: 99.5%
3x: 99.0%
10x: 97.8%
20x: 96.0%

Validation Efficiency

99% (77/78)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020N15Rik	A	G	X: 68,989,391 (GRCm39)	S96G	unknown	Het
4930447C04Rik	T	C	12: 72,956,830 (GRCm39)	D120G	probably damaging	Het
Actmap	A	T	7: 26,902,072 (GRCm39)	H233L	probably damaging	Het
Adgrg5	T	A	8: 95,660,785 (GRCm39)		probably null	Het
Afg3l2	G	T	18: 67,548,627 (GRCm39)	H534Q	possibly damaging	Het
Ankar	G	A	1: 72,695,380 (GRCm39)		probably benign	Het
Arid2	T	A	15: 96,299,930 (GRCm39)	F1814L	possibly damaging	Het
Asb15	C	T	6: 24,566,163 (GRCm39)	A372V	probably damaging	Het
Atg16l1	A	T	1: 87,709,421 (GRCm39)	D403V	possibly damaging	Het
Bnc2	T	C	4: 84,211,433 (GRCm39)	D407G	probably benign	Het
Ccdc121	T	C	5: 31,643,312 (GRCm39)		probably benign	Het
Cdan1	A	G	2: 120,556,526 (GRCm39)	V633A	probably benign	Het
Cfap46	T	C	7: 139,185,571 (GRCm39)	Y2482C	unknown	Het
Chd8	T	C	14: 52,439,761 (GRCm39)	E964G	probably benign	Het
Cyp2s1	A	G	7: 25,508,683 (GRCm39)	V253A	probably damaging	Het
Depdc1b	A	G	13: 108,460,443 (GRCm39)	N18D	probably damaging	Het
Fis1	T	A	5: 136,991,048 (GRCm39)	V4E	probably damaging	Het
Gba2	T	A	4: 43,570,424 (GRCm39)		probably null	Het
Gm2381	C	T	7: 42,469,504 (GRCm39)	G207R	probably damaging	Het
Gpr89	T	A	3: 96,804,640 (GRCm39)		probably benign	Het
Gtf2i	A	G	5: 134,290,691 (GRCm39)		probably benign	Het
Herc2	T	G	7: 55,762,958 (GRCm39)	S896A	probably damaging	Het
Huwe1	T	C	X: 150,659,309 (GRCm39)	S921P	probably damaging	Het
Iqgap1	T	A	7: 80,386,143 (GRCm39)	K936I	probably damaging	Het
Kcna4	T	A	2: 107,125,927 (GRCm39)	Y220*	probably null	Het
Krt87	T	C	15: 101,384,921 (GRCm39)	N392D	probably damaging	Het
L3mbtl4	G	A	17: 69,081,286 (GRCm39)	C558Y	probably damaging	Het
Lamc2	T	A	1: 153,019,622 (GRCm39)	I440F	possibly damaging	Het
Lrrc28	T	C	7: 67,267,833 (GRCm39)	N98S	probably damaging	Het
Lrrk1	G	A	7: 65,942,084 (GRCm39)	A718V	probably damaging	Het
Mrgprx2	T	C	7: 48,132,666 (GRCm39)	I51V	probably damaging	Het
Myt1	A	T	2: 181,424,408 (GRCm39)	R25*	probably null	Het
Npdc1	C	T	2: 25,298,021 (GRCm39)	T199I	probably benign	Het
Nup98	T	A	7: 101,801,660 (GRCm39)	Y755F	probably damaging	Het
Or51q1c	A	G	7: 103,652,446 (GRCm39)		probably null	Het
Or5p69	T	A	7: 107,966,996 (GRCm39)	C100S	probably damaging	Het
Or5p76	G	T	7: 108,122,289 (GRCm39)	N289K	probably damaging	Het
Or8g22	T	A	9: 38,957,996 (GRCm39)	M240L	probably benign	Het
Osgin1	A	T	8: 120,172,211 (GRCm39)	Y335F	probably damaging	Het
Pde10a	A	T	17: 9,161,797 (GRCm39)	I493F	probably damaging	Het
Pdgfrb	A	G	18: 61,212,780 (GRCm39)	I895V	probably benign	Het
Peg10	T	TCCCCANNANNNN	6: 4,756,475 (GRCm39)		probably benign	Het
Pidd1	A	T	7: 141,020,726 (GRCm39)	L457*	probably null	Het
Pik3c2a	A	G	7: 115,945,482 (GRCm39)		probably benign	Het
Pkd1l3	C	G	8: 110,350,281 (GRCm39)	D375E	possibly damaging	Het
Plcg1	C	T	2: 160,595,283 (GRCm39)		probably benign	Het
Prr13	A	C	15: 102,370,650 (GRCm39)	*138C	probably null	Het
Prrc2b	T	C	2: 32,119,267 (GRCm39)		probably benign	Het
Psph	T	C	5: 129,868,633 (GRCm39)		probably benign	Het
Ripor1	A	G	8: 106,344,746 (GRCm39)		probably benign	Het
Scg3	A	G	9: 75,576,617 (GRCm39)	S253P	probably damaging	Het
Sema6a	G	A	18: 47,423,112 (GRCm39)		probably null	Het
Sgk1	A	G	10: 21,758,556 (GRCm39)	N7D	probably damaging	Het
Skor2	T	C	18: 76,964,255 (GRCm39)	F940L	probably benign	Het
Slbp	T	C	5: 33,802,833 (GRCm39)		probably benign	Het
Snrnp40	C	G	4: 130,271,836 (GRCm39)		probably null	Het
Susd5	A	T	9: 113,911,603 (GRCm39)	H171L	possibly damaging	Het
Sybu	T	C	15: 44,536,664 (GRCm39)	E354G	probably benign	Het
Synpo	T	C	18: 60,735,412 (GRCm39)	N845D	possibly damaging	Het
Tdrd6	A	T	17: 43,939,050 (GRCm39)	I666N	probably damaging	Het
Tm9sf4	T	C	2: 153,029,285 (GRCm39)	I111T	probably benign	Het
Tnc	T	C	4: 63,926,971 (GRCm39)	T852A	probably benign	Het
Tnfrsf10b	T	A	14: 70,013,625 (GRCm39)	I185K	probably damaging	Het
Tnks1bp1	A	G	2: 84,892,974 (GRCm39)	E305G	possibly damaging	Het
Tnrc6b	T	C	15: 80,668,959 (GRCm39)	V22A	probably benign	Het
Ttn	A	T	2: 76,598,956 (GRCm39)	F19319Y	probably damaging	Het
Ubr5	T	C	15: 38,031,051 (GRCm39)		probably benign	Het
Ugt2b5	T	A	5: 87,287,627 (GRCm39)	Q191L	probably benign	Het
Urod	T	C	4: 116,848,473 (GRCm39)	T300A	probably benign	Het
Vmn1r213	A	G	13: 23,195,564 (GRCm39)		probably benign	Het
Znfx1	G	A	2: 166,889,574 (GRCm39)	Q723*	probably null	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
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'- AAATACACGCCTCTGACTGTTCCTG -3'
(R):5'- CGTTTGCTTAAACTGGGCTGCAC -3'

Sequencing Primer
(F):5'- cacacacacacacacacaca -3'
(R):5'- CTTAAACTGGGCTGCACAGATG -3'

Posted On

2013-07-30