Mutagenetix > Incidental Mutations

Incidental Mutation 'R4834:Krt8'

373104

Institutional Source

Beutler Lab

Gene Symbol

Krt8

Ensembl Gene

ENSMUSG00000049382

Gene Name

keratin 8

Synonyms

Krt-2.8, Krt2-8, cytokeratin 8, cytokeratin8, K8, EndoA, cytokeratin-8, Card2

MMRRC Submission

041977-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R4834 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

101996698-102004482 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 101998821 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 276 (I276F)

Ref Sequence

ENSEMBL: ENSMUSP00000023952 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023952]

AlphaFold

P11679

Predicted Effect

probably damaging
Transcript: ENSMUST00000023952
AA Change: I276F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000023952
Gene: ENSMUSG00000049382
AA Change: I276F

Domain	Start	End	E-Value	Type
Pfam:Keratin_2_head	1	93	9.4e-18	PFAM
Filament	96	407	7.82e-188	SMART
low complexity region	421	438	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the type II keratin family clustered on the long arm of chromosome 12. Type I and type II keratins heteropolymerize to form intermediate-sized filaments in the cytoplasm of epithelial cells. The product of this gene typically dimerizes with keratin 18 to form an intermediate filament in simple single-layered epithelial cells. This protein plays a role in maintaining cellular structural integrity and also functions in signal transduction and cellular differentiation. Mutations in this gene cause cryptogenic cirrhosis. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2012]
PHENOTYPE: Mice homozygous for a null allele show partial background-sensitive embryonic lethality, placental defects, impaired female fertility, abnormal hematopoiesis, diarrhea, colorectal hyperplasia, anorectal prolapse, and high liver sensitivity to toxins, apoptotic stimuli and diet-induced steatosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930550C14Rik	A	C	9: 53,432,487	D146A	possibly damaging	Het
Acsl5	C	A	19: 55,280,559	D217E	probably benign	Het
Acss3	A	G	10: 107,084,805		probably null	Het
Adam24	G	A	8: 40,679,699	G69R	probably damaging	Het
Adgrg7	A	T	16: 56,732,869	W622R	probably damaging	Het
Ankrd26	T	C	6: 118,523,718	M931V	probably benign	Het
Ano8	C	T	8: 71,484,295	V187M	probably damaging	Het
Ap3d1	A	T	10: 80,719,726	C348S	probably damaging	Het
Apob	T	C	12: 8,014,101	V376A	possibly damaging	Het
Arhgap21	A	T	2: 20,865,319	D925E	probably damaging	Het
Bmp6	T	A	13: 38,485,841	V367E	probably damaging	Het
Bmp8b	A	T	4: 123,123,050	Q348L	probably damaging	Het
Ccr1l1	T	C	9: 123,977,705	K235R	probably damaging	Het
Cd59a	G	A	2: 104,114,086	C93Y	probably damaging	Het
Clstn3	C	T	6: 124,431,953		probably null	Het
Col4a2	C	A	8: 11,406,836	Y236*	probably null	Het
Csn1s2a	T	C	5: 87,781,778	F79L	probably benign	Het
Cyp4a10	A	C	4: 115,525,808	Y360S	probably damaging	Het
Cyp4a29	A	T	4: 115,249,670	I175F	probably benign	Het
D11Wsu47e	C	A	11: 113,688,979	T400K	probably benign	Het
Dck	T	A	5: 88,772,736	I105N	probably damaging	Het
Dicer1	A	G	12: 104,696,591	L1577P	probably benign	Het
Dirc2	T	A	16: 35,735,575	T172S	probably benign	Het
Disp2	G	A	2: 118,792,504	S1239N	probably benign	Het
Dopey2	T	C	16: 93,740,004	M1T	probably null	Het
E130308A19Rik	T	A	4: 59,690,317	C50*	probably null	Het
Elf2	A	T	3: 51,277,221	D14E	probably damaging	Het
Epm2aip1	C	T	9: 111,273,194	R412C	probably benign	Het
Foxm1	T	C	6: 128,369,447	F114L	probably damaging	Het
Glcci1	C	T	6: 8,582,601	R134*	probably null	Het
Gm996	T	C	2: 25,579,518	E127G	possibly damaging	Het
Gspt1	T	C	16: 11,222,717	K576E	probably damaging	Het
H2-M10.3	T	C	17: 36,367,394	K180E	probably benign	Het
Hecw2	A	T	1: 53,830,752	V1439E	probably damaging	Het
Hr	T	C	14: 70,559,922	S561P	probably damaging	Het
Hunk	T	C	16: 90,496,198	V456A	probably benign	Het
Il1rap	T	A	16: 26,676,935	D97E	probably damaging	Het
Inpp5d	T	G	1: 87,697,523	V474G	possibly damaging	Het
Itsn1	T	A	16: 91,906,789	L87*	probably null	Het
Izumo3	T	C	4: 92,146,971	D3G	possibly damaging	Het
Kifc2	T	A	15: 76,661,311	M1K	probably null	Het
Ksr2	C	A	5: 117,668,327	Q402K	probably benign	Het
Lama2	A	G	10: 27,006,749	V2606A	probably benign	Het
Met	A	G	6: 17,491,413	H58R	probably damaging	Het
Mier3	C	T	13: 111,715,109	Q542*	probably null	Het
Msh2	C	A	17: 87,723,413	A906E	probably benign	Het
Msl3l2	C	T	10: 56,115,559	R127C	probably damaging	Het
Naglu	T	C	11: 101,076,988	L588P	probably benign	Het
Nf1	T	C	11: 79,546,297	L2013P	probably damaging	Het
Nid1	A	G	13: 13,508,823	Y1162C	probably damaging	Het
Nlrc5	G	T	8: 94,505,485	R1313L	probably benign	Het
Nrg1	A	G	8: 31,917,719	V162A	probably benign	Het
Nup188	T	C	2: 30,339,584	L1310P	probably damaging	Het
Ofcc1	G	A	13: 40,015,388	T841I	probably damaging	Het
Olfr1310	A	G	2: 112,008,931	L85P	probably damaging	Het
Olfr290	T	G	7: 84,916,283	F168C	probably damaging	Het
Olfr305	G	A	7: 86,363,744	L198F	probably benign	Het
Pbk	T	A	14: 65,815,284	L192*	probably null	Het
Pcdhga4	T	C	18: 37,685,437	I13T	probably benign	Het
Peg10	A	T	6: 4,754,294		probably benign	Het
Polq	T	A	16: 37,027,814	V261D	probably damaging	Het
Ppp2r5b	T	A	19: 6,230,510	T313S	possibly damaging	Het
Ptk2	A	T	15: 73,216,096		probably null	Het
Ptpn7	T	A	1: 135,137,880		probably null	Het
Rab11fip1	A	G	8: 27,153,083	S563P	probably damaging	Het
Scn1a	A	T	2: 66,328,522	C351*	probably null	Het
Slc10a5	A	T	3: 10,334,799	V267D	probably damaging	Het
Slc37a2	T	A	9: 37,235,108	M368L	probably damaging	Het
Slc6a20b	T	A	9: 123,596,048	T585S	probably benign	Het
Srcap	T	C	7: 127,557,610		probably null	Het
Tbx18	T	C	9: 87,727,449	M178V	possibly damaging	Het
Tmprss11b	C	A	5: 86,663,559	C172F	probably damaging	Het
Traf5	T	C	1: 192,066,898	Q91R	probably benign	Het
Trappc8	A	T	18: 20,825,065	Y1248N	probably damaging	Het
Trpa1	A	G	1: 14,896,523	L539S	possibly damaging	Het
Tyrp1	T	A	4: 80,846,596	Y3*	probably null	Het
Ubr7	A	T	12: 102,761,502	K94N	probably damaging	Het
Ugt2a1	C	A	5: 87,486,035		probably null	Het
Unc50	T	A	1: 37,432,629	I120K	probably damaging	Het
Usp28	T	C	9: 49,001,536	V29A	probably damaging	Het
Usp9y	A	G	Y: 1,317,002	I1849T	probably benign	Het
Vmn2r102	T	A	17: 19,677,941	V406E	probably damaging	Het
Vmn2r4	G	A	3: 64,410,063	R85W	probably benign	Het
Xirp2	A	G	2: 67,516,406	D2997G	probably benign	Het
Zc2hc1c	A	T	12: 85,290,208	E213V	probably damaging	Het
Zfp420	C	T	7: 29,874,334		probably benign	Het
Zfp641	C	T	15: 98,293,704	E34K	probably damaging	Het

Other mutations in Krt8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00508:Krt8	APN	15	101998025	missense	probably benign
IGL01643:Krt8	APN	15	101997073	missense	possibly damaging	0.64
IGL01966:Krt8	APN	15	101997670	missense	probably benign	0.08
IGL02587:Krt8	APN	15	101998932	missense	probably benign	0.04
IGL03088:Krt8	APN	15	102000587	missense	possibly damaging	0.90
R0531:Krt8	UTSW	15	102001448	missense	probably benign	0.12
R1451:Krt8	UTSW	15	101998829	missense	possibly damaging	0.93
R2258:Krt8	UTSW	15	101998822	missense	probably benign
R2348:Krt8	UTSW	15	101998865	missense	probably benign	0.31
R2566:Krt8	UTSW	15	101998024	missense	probably benign	0.03
R3796:Krt8	UTSW	15	101999442	missense	probably benign	0.00
R4965:Krt8	UTSW	15	101996951	missense	probably benign
R5212:Krt8	UTSW	15	101997967	missense	possibly damaging	0.52
R5249:Krt8	UTSW	15	101998440	missense	possibly damaging	0.69
R5419:Krt8	UTSW	15	102003902	missense	probably damaging	0.98
R5778:Krt8	UTSW	15	102003939	missense	probably damaging	0.99
R5997:Krt8	UTSW	15	102000594	missense	possibly damaging	0.77
R6503:Krt8	UTSW	15	101997934	missense	possibly damaging	0.66
R6683:Krt8	UTSW	15	101998004	missense	probably benign
R6812:Krt8	UTSW	15	101997979	missense	probably damaging	0.99
R6824:Krt8	UTSW	15	101998440	missense	possibly damaging	0.50
R6875:Krt8	UTSW	15	101997908	missense	probably benign	0.44
R7650:Krt8	UTSW	15	102004163	missense	probably benign	0.07
R8047:Krt8	UTSW	15	102003971	missense	probably damaging	0.99
R8559:Krt8	UTSW	15	102001544	missense	probably benign	0.03
R8826:Krt8	UTSW	15	102001435	missense	possibly damaging	0.89
R9146:Krt8	UTSW	15	101998935	missense	probably damaging	0.98
Z1177:Krt8	UTSW	15	101999435	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGTTCAGCTGACATCTCACC -3'
(R):5'- TTGCAAAGGGTCCTGTGAACAG -3'

Sequencing Primer
(F):5'- AGTGAAGGCCCCTTTCCAGAC -3'
(R):5'- CTGTGAACAGGGACAGAGCCTTAC -3'

Posted On

2016-03-01