Mutagenetix > Incidental Mutation

Incidental Mutation 'R7543:Krt18'

584041

Institutional Source

Beutler Lab

Gene Symbol

Krt18

Ensembl Gene

ENSMUSG00000023043

Gene Name

keratin 18

Synonyms

Endo B, K18, CK18, Krt1-18

MMRRC Submission

045615-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7543 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

101936651-101940461 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 101939896 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 365 (K365E)

Ref Sequence

ENSEMBL: ENSMUSP00000023803 (fasta)

Gene Model

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

AlphaFold

P05784

Predicted Effect

probably damaging
Transcript: ENSMUST00000023803
AA Change: K365E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000023803
Gene: ENSMUSG00000023043
AA Change: K365E

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: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (71/71)

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
Aacs	T	A	5: 125,559,920 (GRCm39)	S54T	probably damaging	Het
Acsl5	G	A	19: 55,266,615 (GRCm39)	V59I		Het
Acss2	A	T	2: 155,391,755 (GRCm39)	I203F	probably damaging	Het
Add2	A	G	6: 86,083,207 (GRCm39)	N435S	probably damaging	Het
Afap1l1	T	C	18: 61,889,972 (GRCm39)	D88G	probably benign	Het
Ajm1	C	A	2: 25,467,410 (GRCm39)	A834S	possibly damaging	Het
Ank3	C	T	10: 69,786,846 (GRCm39)	T970M	possibly damaging	Het
Ap3b2	A	T	7: 81,115,894 (GRCm39)		probably null	Het
Apc2	A	G	10: 80,150,720 (GRCm39)	K1925E	possibly damaging	Het
Aspscr1	A	G	11: 120,600,249 (GRCm39)	N130D	unknown	Het
B3glct	A	G	5: 149,677,604 (GRCm39)	D411G	probably damaging	Het
Bard1	T	C	1: 71,114,589 (GRCm39)	K131E	probably damaging	Het
Bche	T	C	3: 73,609,066 (GRCm39)	D120G	probably damaging	Het
Brms1l	A	T	12: 55,914,997 (GRCm39)	D302V	probably damaging	Het
Ccdc191	T	A	16: 43,718,572 (GRCm39)	Y56*	probably null	Het
Cela3a	T	A	4: 137,129,883 (GRCm39)	H246L	probably damaging	Het
Col11a2	A	T	17: 34,269,430 (GRCm39)	D440V	unknown	Het
Cplane1	T	C	15: 8,254,876 (GRCm39)	I21T	unknown	Het
Dag1	C	T	9: 108,095,280 (GRCm39)	V71I	probably benign	Het
Ddx23	A	G	15: 98,556,139 (GRCm39)	S60P	unknown	Het
Dync1h1	G	T	12: 110,580,541 (GRCm39)	R134L	probably benign	Het
Dync1i1	T	C	6: 5,784,464 (GRCm39)	S103P	possibly damaging	Het
Erap1	T	A	13: 74,822,753 (GRCm39)	D755E	probably damaging	Het
Exosc8	T	C	3: 54,636,669 (GRCm39)	T221A	probably benign	Het
Fbxo4	T	C	15: 4,007,385 (GRCm39)	D93G	probably damaging	Het
Fzd5	A	G	1: 64,774,999 (GRCm39)	V254A	probably damaging	Het
Gbp3	T	C	3: 142,272,341 (GRCm39)	V281A	probably damaging	Het
Gcc2	T	A	10: 58,107,086 (GRCm39)	I774K	probably benign	Het
Gpr132	A	C	12: 112,815,822 (GRCm39)	C335G	probably benign	Het
Gpr162	G	T	6: 124,838,355 (GRCm39)	Y98*	probably null	Het
H2-T24	T	C	17: 36,325,743 (GRCm39)	T283A	possibly damaging	Het
Hoxc6	A	G	15: 102,918,186 (GRCm39)	Y50C	probably damaging	Het
Il4i1	A	G	7: 44,486,199 (GRCm39)	N53S	possibly damaging	Het
Iqcf3	T	C	9: 106,431,425 (GRCm39)	K60R	possibly damaging	Het
Kif24	A	T	4: 41,413,993 (GRCm39)	Y316*	probably null	Het
Lrguk	T	A	6: 34,025,870 (GRCm39)	L222*	probably null	Het
Mbd1	T	G	18: 74,407,520 (GRCm39)	V210G	probably damaging	Het
Ms4a6b	A	G	19: 11,499,155 (GRCm39)	I90V	not run	Het
Muc16	A	G	9: 18,556,028 (GRCm39)	S3422P	unknown	Het
Mynn	G	A	3: 30,661,188 (GRCm39)	W90*	probably null	Het
Or5p5	T	A	7: 107,414,308 (GRCm39)	N172K	probably damaging	Het
Pdpr	T	A	8: 111,859,520 (GRCm39)	H687Q	probably damaging	Het
Pkd1	A	G	17: 24,814,227 (GRCm39)	E4199G	probably damaging	Het
Plekhg5	A	G	4: 152,192,491 (GRCm39)	E517G	probably damaging	Het
Plxna1	T	C	6: 89,299,837 (GRCm39)	D1644G	probably damaging	Het
Pon1	C	T	6: 5,168,400 (GRCm39)	V336M	possibly damaging	Het
Pop1	T	A	15: 34,530,593 (GRCm39)	L1027Q	probably damaging	Het
Pramel1	T	C	4: 143,124,993 (GRCm39)	S306P	probably damaging	Het
Prpsap2	A	T	11: 61,635,797 (GRCm39)	F168I	possibly damaging	Het
Rabgap1	T	A	2: 37,359,444 (GRCm39)	D2E	probably damaging	Het
Rgmb	A	T	17: 16,027,777 (GRCm39)	L314Q	probably damaging	Het
Ryr2	C	T	13: 11,653,317 (GRCm39)		probably null	Het
Samd4b	A	T	7: 28,113,711 (GRCm39)	S85T	probably benign	Het
Sfrp5	T	C	19: 42,187,302 (GRCm39)	D256G	possibly damaging	Het
Slc25a23	A	G	17: 57,365,106 (GRCm39)		probably null	Het
Sox5	A	G	6: 143,786,905 (GRCm39)	I589T	probably damaging	Het
Sybu	T	A	15: 44,546,848 (GRCm39)		probably null	Het
Syne2	A	G	12: 75,953,616 (GRCm39)	E515G	possibly damaging	Het
Tbc1d17	G	A	7: 44,495,503 (GRCm39)	A107V	probably benign	Het
Tcstv2c	A	C	13: 120,616,290 (GRCm39)	E43A	probably damaging	Het
Tex50	G	T	1: 160,984,817 (GRCm39)	T141K	possibly damaging	Het
Tmc7	A	G	7: 118,144,979 (GRCm39)	L527P	probably benign	Het
Tns4	T	A	11: 98,963,079 (GRCm39)	D547V	probably benign	Het
Topors	A	G	4: 40,268,312 (GRCm39)	S65P	probably damaging	Het
Trdc	T	A	14: 54,381,692 (GRCm39)	S126T		Het
Ttc27	A	T	17: 75,024,745 (GRCm39)		probably benign	Het
Wdfy3	A	C	5: 102,083,925 (GRCm39)	I787S	probably benign	Het
Zc3h11a	T	C	1: 133,554,768 (GRCm39)	D404G	possibly damaging	Het
Zfp799	A	G	17: 33,039,534 (GRCm39)	I244T	probably benign	Het
Zfp93	A	G	7: 23,974,533 (GRCm39)	T173A	probably benign	Het
Zfp953	T	A	13: 67,495,953 (GRCm39)	L29F	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
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
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'- CCCTTTCAAAGAAGGGTTGAGC -3'
(R):5'- TCACTCACTTGAGGCCACTG -3'

Sequencing Primer
(F):5'- ATCTCTGTGTCCTGCAGAAC -3'
(R):5'- CACTGGTGAGTGGTTACCAAC -3'

Posted On

2019-10-17