Mutagenetix > Incidental Mutation

Incidental Mutation 'R5212:Krt8'

403210

Institutional Source

Beutler Lab

Gene Symbol

Krt8

Ensembl Gene

ENSMUSG00000049382

Gene Name

keratin 8

Synonyms

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

MMRRC Submission

042786-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5212 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

101905146-101912777 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 101906402 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Aspartic acid at position 369 (A369D)

Ref Sequence

ENSEMBL: ENSMUSP00000023952 (fasta)

Gene Model

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

AlphaFold

P11679

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023952
AA Change: A369D

PolyPhen 2 Score 0.517 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000023952
Gene: ENSMUSG00000049382
AA Change: A369D

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

Meta Mutation Damage Score

0.5047

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

97% (58/60)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	A	3: 137,771,611 (GRCm39)	S267T	possibly damaging	Het
Abca9	T	C	11: 109,998,052 (GRCm39)	D1514G	probably benign	Het
Adamtsl4	T	A	3: 95,584,980 (GRCm39)	D896V	probably damaging	Het
Amer2	A	G	14: 60,617,269 (GRCm39)	Y362C	probably damaging	Het
Arglu1	T	A	8: 8,733,843 (GRCm39)	R158W	probably damaging	Het
Arhgef7	A	G	8: 11,778,388 (GRCm39)	E46G	probably benign	Het
Atg2b	A	G	12: 105,613,055 (GRCm39)	V1172A	probably benign	Het
Bhlhe23	T	A	2: 180,417,886 (GRCm39)	K217N	probably damaging	Het
Birc6	A	C	17: 74,977,369 (GRCm39)	N4388T	probably damaging	Het
Ccp110	C	T	7: 118,328,919 (GRCm39)	A845V	probably damaging	Het
Cd63	A	G	10: 128,747,722 (GRCm39)	Y105C	probably damaging	Het
Cdk11b	T	C	4: 155,723,072 (GRCm39)		probably null	Het
Clip1	T	A	5: 123,768,744 (GRCm39)	R618S	probably benign	Het
Crybg1	A	T	10: 43,843,739 (GRCm39)	F1731L	possibly damaging	Het
Dock1	A	C	7: 134,390,923 (GRCm39)	K728Q	possibly damaging	Het
Emc2	A	G	15: 43,374,240 (GRCm39)	E180G	probably damaging	Het
F13b	A	T	1: 139,440,725 (GRCm39)	I394F	probably benign	Het
Fnta	A	G	8: 26,499,735 (GRCm39)	I155T	probably benign	Het
Fshr	T	A	17: 89,293,685 (GRCm39)	E331V	probably benign	Het
Fshr	T	A	17: 89,293,684 (GRCm39)	E331D	probably benign	Het
Gas2l1	A	T	11: 5,011,108 (GRCm39)	C574S	probably benign	Het
Ggnbp2	T	A	11: 84,744,847 (GRCm39)		probably benign	Het
Gm3371	A	C	14: 44,641,111 (GRCm39)		probably benign	Het
Gm7489	T	A	15: 53,749,016 (GRCm39)		probably benign	Het
Hand1	A	C	11: 57,722,273 (GRCm39)	F114V	probably damaging	Het
Itga4	A	C	2: 79,110,939 (GRCm39)	H259P	probably damaging	Het
Jakmip1	A	T	5: 37,262,245 (GRCm39)	H183L	probably benign	Het
Kifbp	A	T	10: 62,398,908 (GRCm39)		probably benign	Het
Krt82	T	C	15: 101,453,484 (GRCm39)	S301G	probably damaging	Het
Lig3	A	G	11: 82,678,504 (GRCm39)	T248A	probably benign	Het
Madcam1	C	G	10: 79,504,179 (GRCm39)	T255S	probably benign	Het
Med20	T	C	17: 47,929,775 (GRCm39)	Y71H	probably benign	Het
Mtss2	A	G	8: 111,455,850 (GRCm39)	I107V	probably damaging	Het
Nans	T	C	4: 46,502,547 (GRCm39)	F328S	possibly damaging	Het
Ncbp3	A	G	11: 72,944,373 (GRCm39)		probably benign	Het
Nek8	T	C	11: 78,063,342 (GRCm39)	M1V	probably null	Het
Nufip1	A	T	14: 76,370,538 (GRCm39)	N413I	possibly damaging	Het
Pbx3	T	C	2: 34,178,793 (GRCm39)		probably benign	Het
Plppr3	C	T	10: 79,698,279 (GRCm39)	G419R	probably benign	Het
Rfx1	G	T	8: 84,793,221 (GRCm39)		probably benign	Het
Rnpepl1	C	T	1: 92,839,045 (GRCm39)	A68V	probably benign	Het
Rsbn1l	A	T	5: 21,101,212 (GRCm39)	M776K	probably benign	Het
Setd7	A	T	3: 51,450,238 (GRCm39)	Y63N	probably damaging	Het
Slc45a2	C	T	15: 11,027,871 (GRCm39)	T480I	probably damaging	Het
Snap47	T	C	11: 59,319,178 (GRCm39)	E320G	probably damaging	Het
Spaca6	C	A	17: 18,058,656 (GRCm39)	P68Q	probably benign	Het
Tdrd3	G	C	14: 87,743,651 (GRCm39)	R527P	probably damaging	Het
Tmprss2	G	T	16: 97,377,492 (GRCm39)	Q202K	probably benign	Het
Tmprss6	A	G	15: 78,330,460 (GRCm39)	V69A	probably damaging	Het
Trav6-1	A	T	14: 52,876,161 (GRCm39)	Q27L	probably benign	Het
Ttn	C	T	2: 76,731,957 (GRCm39)		probably benign	Het
Ttn	T	C	2: 76,619,945 (GRCm39)	I15908V	probably benign	Het
Ttn	T	A	2: 76,628,019 (GRCm39)	D12931V	probably damaging	Het
Ush2a	T	A	1: 188,176,902 (GRCm39)		probably null	Het
Wls	A	G	3: 159,578,645 (GRCm39)	N69S	probably benign	Het

Other mutations in Krt8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00508:Krt8	APN	15	101,906,460 (GRCm39)	missense	probably benign
IGL01643:Krt8	APN	15	101,905,508 (GRCm39)	missense	possibly damaging	0.64
IGL01966:Krt8	APN	15	101,906,105 (GRCm39)	missense	probably benign	0.08
IGL02587:Krt8	APN	15	101,907,367 (GRCm39)	missense	probably benign	0.04
IGL03088:Krt8	APN	15	101,909,022 (GRCm39)	missense	possibly damaging	0.90
R0531:Krt8	UTSW	15	101,909,883 (GRCm39)	missense	probably benign	0.12
R1451:Krt8	UTSW	15	101,907,264 (GRCm39)	missense	possibly damaging	0.93
R2258:Krt8	UTSW	15	101,907,257 (GRCm39)	missense	probably benign
R2348:Krt8	UTSW	15	101,907,300 (GRCm39)	missense	probably benign	0.31
R2566:Krt8	UTSW	15	101,906,459 (GRCm39)	missense	probably benign	0.03
R3796:Krt8	UTSW	15	101,907,877 (GRCm39)	missense	probably benign	0.00
R4834:Krt8	UTSW	15	101,907,256 (GRCm39)	missense	probably damaging	1.00
R4965:Krt8	UTSW	15	101,905,386 (GRCm39)	missense	probably benign
R5249:Krt8	UTSW	15	101,906,875 (GRCm39)	missense	possibly damaging	0.69
R5419:Krt8	UTSW	15	101,912,337 (GRCm39)	missense	probably damaging	0.98
R5778:Krt8	UTSW	15	101,912,374 (GRCm39)	missense	probably damaging	0.99
R5997:Krt8	UTSW	15	101,909,029 (GRCm39)	missense	possibly damaging	0.77
R6503:Krt8	UTSW	15	101,906,369 (GRCm39)	missense	possibly damaging	0.66
R6683:Krt8	UTSW	15	101,906,439 (GRCm39)	missense	probably benign
R6812:Krt8	UTSW	15	101,906,414 (GRCm39)	missense	probably damaging	0.99
R6824:Krt8	UTSW	15	101,906,875 (GRCm39)	missense	possibly damaging	0.50
R6875:Krt8	UTSW	15	101,906,343 (GRCm39)	missense	probably benign	0.44
R7650:Krt8	UTSW	15	101,912,598 (GRCm39)	missense	probably benign	0.07
R8047:Krt8	UTSW	15	101,912,406 (GRCm39)	missense	probably damaging	0.99
R8559:Krt8	UTSW	15	101,909,979 (GRCm39)	missense	probably benign	0.03
R8826:Krt8	UTSW	15	101,909,870 (GRCm39)	missense	possibly damaging	0.89
R9146:Krt8	UTSW	15	101,907,370 (GRCm39)	missense	probably damaging	0.98
R9565:Krt8	UTSW	15	101,912,460 (GRCm39)	missense	probably benign	0.26
Z1177:Krt8	UTSW	15	101,907,870 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAGAATCCAAGTCCCAGGAGAG -3'
(R):5'- TCTCCGAGATGAACCGCAAC -3'

Sequencing Primer
(F):5'- AGAGCTCCGGGCAGCAC -3'
(R):5'- GTTGCTGTAAATTCAAGGCCAGC -3'

Posted On

2016-07-22