Mutagenetix > Incidental Mutation

Incidental Mutation 'R7883:Krt18'

608915

Institutional Source

Beutler Lab

Gene Symbol

Krt18

Ensembl Gene

ENSMUSG00000023043

Gene Name

keratin 18

Synonyms

Endo B, K18, CK18, Krt1-18

MMRRC Submission

045935-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7883 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

101936651-101940461 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 101936885 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 58 (V58M)

Ref Sequence

ENSEMBL: ENSMUSP00000023803 (fasta)

Gene Model

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

AlphaFold

P05784

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023803
AA Change: V58M

PolyPhen 2 Score 0.629 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000023803
Gene: ENSMUSG00000023043
AA Change: V58M

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

0.1712

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

99% (79/80)

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
1110065P20Rik	A	T	4: 124,744,440 (GRCm39)	W5R	unknown	Het
Abcb6	A	T	1: 75,154,660 (GRCm39)	S258R	possibly damaging	Het
Abcc10	A	G	17: 46,618,027 (GRCm39)	V1082A	probably benign	Het
Adrb2	A	G	18: 62,312,447 (GRCm39)	V126A	probably damaging	Het
Apol11a	A	G	15: 77,400,774 (GRCm39)	E87G	probably damaging	Het
Arhgap45	T	A	10: 79,863,423 (GRCm39)	C755*	probably null	Het
Arl13b	A	T	16: 62,647,629 (GRCm39)	I93K	probably damaging	Het
Aspm	A	G	1: 139,406,405 (GRCm39)	K1764R	possibly damaging	Het
Atp8b5	A	G	4: 43,342,471 (GRCm39)	I381V	probably damaging	Het
Atxn2	A	G	5: 121,940,180 (GRCm39)	H985R	possibly damaging	Het
Bms1	G	T	6: 118,365,735 (GRCm39)	N1150K	probably benign	Het
C1ra	G	A	6: 124,494,684 (GRCm39)	E316K	probably benign	Het
Camta2	T	C	11: 70,566,037 (GRCm39)	D749G	probably damaging	Het
Cd300ld2	CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG	CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG	11: 114,903,257 (GRCm39)		probably benign	Het
Cep152	G	A	2: 125,454,978 (GRCm39)	A274V	possibly damaging	Het
Chd7	A	G	4: 8,826,504 (GRCm39)	N956S	probably damaging	Het
Cpt1c	A	T	7: 44,613,438 (GRCm39)		probably null	Het
Cttn	C	T	7: 143,999,555 (GRCm39)	V338I	probably benign	Het
Dab2ip	G	A	2: 35,610,218 (GRCm39)	G811D	possibly damaging	Het
Dmtf1	T	C	5: 9,190,397 (GRCm39)	T106A	probably benign	Het
Dync2h1	T	C	9: 7,005,566 (GRCm39)	E3768G	possibly damaging	Het
Exoc1	T	A	5: 76,709,229 (GRCm39)	D612E	probably damaging	Het
Fat2	T	C	11: 55,144,190 (GRCm39)		probably null	Het
Fat4	G	A	3: 39,035,968 (GRCm39)	E3207K	probably damaging	Het
Fbxw18	A	G	9: 109,517,474 (GRCm39)	Y410H	probably damaging	Het
Fgfr3	T	A	5: 33,891,235 (GRCm39)	S518T	probably damaging	Het
Fzr1	G	A	10: 81,204,469 (GRCm39)	T377M	probably damaging	Het
Gcnt3	T	A	9: 69,941,453 (GRCm39)	I372F	probably damaging	Het
Gm10577	A	T	4: 100,877,719 (GRCm39)	Y59N	unknown	Het
Gm826	A	G	2: 160,169,213 (GRCm39)	L32P	unknown	Het
Grid1	T	G	14: 35,172,259 (GRCm39)		probably null	Het
Hid1	T	A	11: 115,245,435 (GRCm39)	T457S	probably damaging	Het
Hsd3b5	A	G	3: 98,529,456 (GRCm39)	V58A	probably benign	Het
Iqcj	A	G	3: 67,954,641 (GRCm39)	K49E	probably damaging	Het
Itpk1	A	G	12: 102,572,434 (GRCm39)	V93A	probably benign	Het
Kcnt2	A	G	1: 140,450,888 (GRCm39)	I722M	probably damaging	Het
Klhl36	T	C	8: 120,601,217 (GRCm39)	V412A	possibly damaging	Het
Lats2	T	C	14: 57,934,657 (GRCm39)	Y691C	probably damaging	Het
Lrp1b	A	T	2: 40,555,141 (GRCm39)	I4095N		Het
Map1a	A	G	2: 121,135,853 (GRCm39)	E2223G	probably damaging	Het
Med25	A	G	7: 44,541,232 (GRCm39)	F94L	possibly damaging	Het
Mertk	A	G	2: 128,618,265 (GRCm39)	I499V	probably benign	Het
Mrps12	A	G	7: 28,439,568 (GRCm39)	L49P	probably benign	Het
Nwd1	T	A	8: 73,393,754 (GRCm39)	V339D	probably damaging	Het
Obscn	G	A	11: 58,960,835 (GRCm39)	Q3159*	probably null	Het
Patj	G	A	4: 98,499,372 (GRCm39)	V1349I	probably benign	Het
Pcdha8	T	A	18: 37,126,196 (GRCm39)	V226D	probably damaging	Het
Pdgfd	T	A	9: 6,293,939 (GRCm39)		probably null	Het
Pdzd7	A	C	19: 45,018,679 (GRCm39)	I600S	probably damaging	Het
Pgpep1l	G	A	7: 67,888,897 (GRCm39)	R45*	probably null	Het
Pik3c3	T	C	18: 30,407,416 (GRCm39)	S55P	probably benign	Het
Pkhd1l1	A	T	15: 44,392,522 (GRCm39)	D1619V	probably damaging	Het
Pkp1	A	G	1: 135,812,641 (GRCm39)		probably null	Het
Ppan	T	A	9: 20,802,777 (GRCm39)	I311N	probably benign	Het
Ppih	C	A	4: 119,167,987 (GRCm39)	G175W	probably damaging	Het
Ppp1r8	G	T	4: 132,562,026 (GRCm39)	Q65K	probably damaging	Het
Psmd5	T	A	2: 34,746,524 (GRCm39)	K351M	possibly damaging	Het
Pth1r	T	C	9: 110,560,626 (GRCm39)	K53R	probably benign	Het
Ptprn	A	T	1: 75,239,007 (GRCm39)	F9L	probably damaging	Het
Rgl3	T	C	9: 21,892,723 (GRCm39)	I288V	probably benign	Het
Sds	A	G	5: 120,617,278 (GRCm39)	I45V	possibly damaging	Het
Sfxn4	A	T	19: 60,847,187 (GRCm39)		probably null	Het
Sis	A	T	3: 72,828,329 (GRCm39)	C1220S	possibly damaging	Het
Slc22a16	T	G	10: 40,479,660 (GRCm39)	D577E	probably benign	Het
Slc25a10	T	A	11: 120,385,340 (GRCm39)	M43K	possibly damaging	Het
Smpd1	T	C	7: 105,206,192 (GRCm39)	I440T	probably damaging	Het
Spata6l	A	C	19: 28,906,013 (GRCm39)	S297A	probably benign	Het
St6galnac6	A	G	2: 32,504,941 (GRCm39)	N151S	probably benign	Het
Taf4	G	T	2: 179,571,088 (GRCm39)	L742M	probably damaging	Het
Tctn1	A	G	5: 122,402,375 (GRCm39)	S20P	possibly damaging	Het
Tkfc	A	T	19: 10,572,394 (GRCm39)		probably null	Het
Tmem270	A	G	5: 134,931,681 (GRCm39)	V87A	possibly damaging	Het
Tpo	T	C	12: 30,153,169 (GRCm39)	H395R	probably damaging	Het
Tufm	T	C	7: 126,088,114 (GRCm39)	F206L	possibly damaging	Het
Tulp2	A	G	7: 45,166,188 (GRCm39)		probably null	Het
Tulp3	G	A	6: 128,303,807 (GRCm39)	T264M	probably damaging	Het
Uqcrc2	A	G	7: 120,244,440 (GRCm39)	D194G	possibly damaging	Het
Vill	C	A	9: 118,894,589 (GRCm39)	C415*	probably null	Het
Zfp799	A	G	17: 33,039,256 (GRCm39)	C337R	probably damaging	Het
Zhx2	A	G	15: 57,685,270 (GRCm39)	E213G	possibly 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
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
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'- GCTCTCCTCTCCAGACAAGATG -3'
(R):5'- TCAGGTCTTCGATGATCTTGAAG -3'

Sequencing Primer
(F):5'- GATGAGCTTCACAACTCGCTC -3'
(R):5'- ATCTTGAAGTAGTGGCCCCAGTC -3'

Posted On

2019-12-20