Mutagenetix > Incidental Mutations

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

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0650 (G1)

Quality Score

196

Status

Validated

Chromosome

Chromosomal Location

102028180-102032027 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 102029485 bp (GRCm38)

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: 69,945,785	S96G	unknown	Het
4930447C04Rik	T	C	12: 72,910,056	D120G	probably damaging	Het
4930548H24Rik	T	C	5: 31,485,968		probably benign	Het
Adgrg5	T	A	8: 94,934,157		probably null	Het
Afg3l2	G	T	18: 67,415,557	H534Q	possibly damaging	Het
Ankar	G	A	1: 72,656,221		probably benign	Het
Arid2	T	A	15: 96,402,049	F1814L	possibly damaging	Het
Asb15	C	T	6: 24,566,164	A372V	probably damaging	Het
Atg16l1	A	T	1: 87,781,699	D403V	possibly damaging	Het
BC024978	A	T	7: 27,202,647	H233L	probably damaging	Het
Bnc2	T	C	4: 84,293,196	D407G	probably benign	Het
Cdan1	A	G	2: 120,726,045	V633A	probably benign	Het
Cfap46	T	C	7: 139,605,655	Y2482C	unknown	Het
Chd8	T	C	14: 52,202,304	E964G	probably benign	Het
Cyp2s1	A	G	7: 25,809,258	V253A	probably damaging	Het
Depdc1b	A	G	13: 108,323,909	N18D	probably damaging	Het
Fis1	T	A	5: 136,962,194	V4E	probably damaging	Het
Gba2	T	A	4: 43,570,424		probably null	Het
Gm2381	C	T	7: 42,820,080	G207R	probably damaging	Het
Gpr89	T	A	3: 96,897,324		probably benign	Het
Gtf2i	A	G	5: 134,261,837		probably benign	Het
Herc2	T	G	7: 56,113,210	S896A	probably damaging	Het
Huwe1	T	C	X: 151,876,313	S921P	probably damaging	Het
Iqgap1	T	A	7: 80,736,395	K936I	probably damaging	Het
Kcna4	T	A	2: 107,295,582	Y220*	probably null	Het
Krt83	T	C	15: 101,487,040	N392D	probably damaging	Het
L3mbtl4	G	A	17: 68,774,291	C558Y	probably damaging	Het
Lamc2	T	A	1: 153,143,876	I440F	possibly damaging	Het
Lrrc28	T	C	7: 67,618,085	N98S	probably damaging	Het
Lrrk1	G	A	7: 66,292,336	A718V	probably damaging	Het
Mrgprx2	T	C	7: 48,482,918	I51V	probably damaging	Het
Myt1	A	T	2: 181,782,615	R25*	probably null	Het
Npdc1	C	T	2: 25,408,009	T199I	probably benign	Het
Nup98	T	A	7: 102,152,453	Y755F	probably damaging	Het
Olfr494	T	A	7: 108,367,789	C100S	probably damaging	Het
Olfr502	G	T	7: 108,523,082	N289K	probably damaging	Het
Olfr638	A	G	7: 104,003,239		probably null	Het
Olfr936	T	A	9: 39,046,700	M240L	probably benign	Het
Osgin1	A	T	8: 119,445,472	Y335F	probably damaging	Het
Pde10a	A	T	17: 8,942,965	I493F	probably damaging	Het
Pdgfrb	A	G	18: 61,079,708	I895V	probably benign	Het
Peg10	T	TCCCCANNANNNN	6: 4,756,475		probably benign	Het
Pidd1	A	T	7: 141,440,813	L457*	probably null	Het
Pik3c2a	A	G	7: 116,346,247		probably benign	Het
Pkd1l3	C	G	8: 109,623,649	D375E	possibly damaging	Het
Plcg1	C	T	2: 160,753,363		probably benign	Het
Prr13	A	C	15: 102,462,215	*138C	probably null	Het
Prrc2b	T	C	2: 32,229,255		probably benign	Het
Psph	T	C	5: 129,791,570		probably benign	Het
Ripor1	A	G	8: 105,618,114		probably benign	Het
Scg3	A	G	9: 75,669,335	S253P	probably damaging	Het
Sema6a	G	A	18: 47,290,045		probably null	Het
Sgk1	A	G	10: 21,882,657	N7D	probably damaging	Het
Skor2	T	C	18: 76,876,560	F940L	probably benign	Het
Slbp	T	C	5: 33,645,489		probably benign	Het
Snrnp40	C	G	4: 130,378,043		probably null	Het
Susd5	A	T	9: 114,082,535	H171L	possibly damaging	Het
Sybu	T	C	15: 44,673,268	E354G	probably benign	Het
Synpo	T	C	18: 60,602,340	N845D	possibly damaging	Het
Tdrd6	A	T	17: 43,628,159	I666N	probably damaging	Het
Tm9sf4	T	C	2: 153,187,365	I111T	probably benign	Het
Tnc	T	C	4: 64,008,734	T852A	probably benign	Het
Tnfrsf10b	T	A	14: 69,776,176	I185K	probably damaging	Het
Tnks1bp1	A	G	2: 85,062,630	E305G	possibly damaging	Het
Tnrc6b	T	C	15: 80,784,758	V22A	probably benign	Het
Ttn	A	T	2: 76,768,612	F19319Y	probably damaging	Het
Ubr5	T	C	15: 38,030,807		probably benign	Het
Ugt2b5	T	A	5: 87,139,768	Q191L	probably benign	Het
Urod	T	C	4: 116,991,276	T300A	probably benign	Het
Vmn1r213	A	G	13: 23,011,394		probably benign	Het
Znfx1	G	A	2: 167,047,654	Q723*	probably null	Het

Other mutations in Krt18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02656:Krt18	APN	15	102030922	missense	probably benign	0.07
IGL02666:Krt18	APN	15	102029867	missense	probably damaging	1.00
PIT4378001:Krt18	UTSW	15	102029923	missense	probably benign	0.20
R0077:Krt18	UTSW	15	102030974	missense	probably benign	0.01
R0651:Krt18	UTSW	15	102029485	missense	possibly damaging	0.60
R0947:Krt18	UTSW	15	102030728	missense	possibly damaging	0.57
R1015:Krt18	UTSW	15	102031300	missense	probably benign	0.00
R1219:Krt18	UTSW	15	102031288	splice site	probably benign
R1328:Krt18	UTSW	15	102030734	missense	probably benign	0.00
R2051:Krt18	UTSW	15	102029500	missense	probably benign	0.19
R2082:Krt18	UTSW	15	102031020	splice site	probably null
R3735:Krt18	UTSW	15	102028501	missense	probably benign	0.39
R4696:Krt18	UTSW	15	102031858	missense	probably benign	0.12
R5211:Krt18	UTSW	15	102031453	missense	probably damaging	0.97
R5320:Krt18	UTSW	15	102028520	missense	probably damaging	0.99
R5805:Krt18	UTSW	15	102031300	missense	probably benign	0.40
R6736:Krt18	UTSW	15	102030769	missense	probably benign	0.38
R7221:Krt18	UTSW	15	102029532	missense	possibly damaging	0.66
R7543:Krt18	UTSW	15	102031461	missense	probably damaging	0.99
R7873:Krt18	UTSW	15	102030956	missense	probably benign	0.06
R7883:Krt18	UTSW	15	102028450	missense	possibly damaging	0.63
R8837:Krt18	UTSW	15	102029830	missense	possibly damaging	0.50
R8988:Krt18	UTSW	15	102029527	missense	probably damaging	1.00
R8998:Krt18	UTSW	15	102031439	missense	probably damaging	0.99
R8999:Krt18	UTSW	15	102031439	missense	probably damaging	0.99
X0064:Krt18	UTSW	15	102029962	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