Mutagenetix > Incidental Mutation

Incidental Mutation 'R6812:Krt8'

533871

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

044924-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6812 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

101905146-101912777 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 101906414 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Aspartic acid at position 365 (A365D)

Ref Sequence

ENSEMBL: ENSMUSP00000023952 (fasta)

Gene Model

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

AlphaFold

P11679

Predicted Effect

probably damaging
Transcript: ENSMUST00000023952
AA Change: A365D

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000023952
Gene: ENSMUSG00000049382
AA Change: A365D

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

0.8117

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.0%
20x: 97.4%

Validation Efficiency

100% (56/56)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg7	C	T	16: 56,616,161 (GRCm39)		probably benign	Het
Ak9	A	T	10: 41,243,163 (GRCm39)	M686L	unknown	Het
Ap3b1	A	T	13: 94,616,369 (GRCm39)	T757S	unknown	Het
Apob	A	T	12: 8,033,062 (GRCm39)	K139N	probably damaging	Het
Arid4a	A	G	12: 71,094,037 (GRCm39)	E270G	possibly damaging	Het
Atp1a2	A	T	1: 172,112,444 (GRCm39)	C515S	probably benign	Het
Bicd1	T	C	6: 149,311,035 (GRCm39)	Y37H	probably damaging	Het
Birc2	T	G	9: 7,854,418 (GRCm39)	D424A	probably damaging	Het
Ccdc97	A	T	7: 25,412,469 (GRCm39)	F324L	probably damaging	Het
Crim1	T	A	17: 78,623,029 (GRCm39)	I409N	probably damaging	Het
Cul7	T	A	17: 46,972,335 (GRCm39)	I1233N	probably benign	Het
Dcaf1	T	C	9: 106,735,268 (GRCm39)	S739P	probably damaging	Het
Ddb1	T	C	19: 10,599,863 (GRCm39)		probably null	Het
Dennd5b	T	C	6: 148,982,630 (GRCm39)		probably benign	Het
Dna2	A	G	10: 62,795,120 (GRCm39)	S464G	probably benign	Het
Dnah9	C	T	11: 65,872,155 (GRCm39)	V2692M	probably damaging	Het
Dvl2	T	C	11: 69,891,821 (GRCm39)	Y55H	probably damaging	Het
Eif4g3	G	T	4: 137,830,687 (GRCm39)	Q140H	probably damaging	Het
Enpp5	G	A	17: 44,396,467 (GRCm39)	V460M	probably benign	Het
Etv2	G	T	7: 30,333,426 (GRCm39)	C265*	probably null	Het
F12	T	C	13: 55,569,658 (GRCm39)	E146G	probably damaging	Het
Fdps	C	A	3: 89,001,783 (GRCm39)	E301D	possibly damaging	Het
Fsd2	G	T	7: 81,184,837 (GRCm39)	H686Q	probably benign	Het
Gk5	T	C	9: 96,032,802 (GRCm39)	S262P	probably damaging	Het
Gm20730	A	G	6: 43,058,722 (GRCm39)	V30A	probably benign	Het
Gpr68	C	A	12: 100,844,670 (GRCm39)	E291D	probably damaging	Het
Gucy2c	A	G	6: 136,674,993 (GRCm39)	V1006A	probably benign	Het
Itgb1	T	A	8: 129,431,891 (GRCm39)		probably null	Het
Kif2a	A	T	13: 107,106,259 (GRCm39)	D570E	probably benign	Het
Lias	T	A	5: 65,566,132 (GRCm39)	V373E	possibly damaging	Het
Mpl	A	G	4: 118,312,461 (GRCm39)	V169A	probably benign	Het
Myh3	T	A	11: 66,977,228 (GRCm39)	I319N	probably damaging	Het
Myrfl	T	A	10: 116,668,818 (GRCm39)	K315I	probably damaging	Het
Nrap	T	C	19: 56,340,108 (GRCm39)	D803G	probably damaging	Het
Obi1	A	G	14: 104,747,868 (GRCm39)	V40A	unknown	Het
Or5b119	T	C	19: 13,456,975 (GRCm39)	T196A	probably benign	Het
Pald1	A	G	10: 61,178,701 (GRCm39)	S536P	possibly damaging	Het
Phka2	G	A	X: 159,316,044 (GRCm39)	V230I	probably damaging	Het
Prkaa2	T	A	4: 104,904,349 (GRCm39)	T243S	probably benign	Het
Prrc2b	T	A	2: 32,103,153 (GRCm39)	V877D	probably benign	Het
Rbm27	T	A	18: 42,466,468 (GRCm39)		probably null	Het
Rbm48	A	G	5: 3,646,105 (GRCm39)	V33A	probably benign	Het
Rev3l	G	T	10: 39,699,544 (GRCm39)	R1347L	probably benign	Het
Rtp3	A	G	9: 110,816,180 (GRCm39)	F124L	probably benign	Het
Ryr3	C	T	2: 112,777,251 (GRCm39)	G302D	probably damaging	Het
Scnn1a	A	G	6: 125,314,819 (GRCm39)	N314S	probably benign	Het
Sik3	C	T	9: 46,122,067 (GRCm39)	R907W	probably damaging	Het
Sox5	C	T	6: 144,062,169 (GRCm39)		probably null	Het
Tmc1	A	C	19: 20,878,225 (GRCm39)	L90R	probably damaging	Het
Tmtc2	A	G	10: 105,249,130 (GRCm39)	V201A	probably benign	Het
Uvrag	T	A	7: 98,537,689 (GRCm39)	H502L	probably benign	Het
Vwa8	T	A	14: 79,434,859 (GRCm39)	I1760N	probably damaging	Het
Zfp318	G	GAAGAAT	17: 46,723,468 (GRCm39)		probably benign	Het
Zfp772	T	C	7: 7,209,307 (GRCm39)	D61G	possibly damaging	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
R5212:Krt8	UTSW	15	101,906,402 (GRCm39)	missense	possibly damaging	0.52
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
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'- AATCCAAGTCCCAGGAGAGC -3'
(R):5'- TCTCCGAGATGAACCGCAAC -3'

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

Posted On

2018-09-12