Mutagenetix > Incidental Mutation

Incidental Mutation 'R5778:Krt8'

446851

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

043376-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5778 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

101905146-101912777 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 101912374 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 101 (I101V)

Ref Sequence

ENSEMBL: ENSMUSP00000023952 (fasta)

Gene Model

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

AlphaFold

P11679

Predicted Effect

probably damaging
Transcript: ENSMUST00000023952
AA Change: I101V

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000023952
Gene: ENSMUSG00000049382
AA Change: I101V

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230247

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acta1	A	G	8: 124,618,864 (GRCm39)	S340P	probably benign	Het
Anpep	T	C	7: 79,486,139 (GRCm39)	T528A	probably benign	Het
Apob	T	A	12: 8,065,074 (GRCm39)	D4014E	probably benign	Het
Atp23	A	G	10: 126,735,451 (GRCm39)	C78R	probably damaging	Het
Atp8b3	A	G	10: 80,356,007 (GRCm39)	F1235S	probably benign	Het
B3gnt3	T	C	8: 72,145,582 (GRCm39)	D262G	probably benign	Het
Bltp1	A	T	3: 37,012,863 (GRCm39)	I1848F	probably damaging	Het
Brca1	G	A	11: 101,416,127 (GRCm39)	A669V	possibly damaging	Het
Caprin2	A	T	6: 148,770,820 (GRCm39)	S391R	probably benign	Het
Cdh15	G	A	8: 123,583,326 (GRCm39)	R43Q	possibly damaging	Het
Celsr1	A	T	15: 85,917,156 (GRCm39)	N272K	probably damaging	Het
Cryzl2	T	G	1: 157,298,357 (GRCm39)	S249A	probably benign	Het
Dsg1b	A	T	18: 20,542,279 (GRCm39)	T929S	possibly damaging	Het
Dusp16	G	T	6: 134,695,277 (GRCm39)	T518N	probably benign	Het
Eno2	A	T	6: 124,743,261 (GRCm39)	H158Q	probably damaging	Het
Ep400	T	C	5: 110,867,450 (GRCm39)	D954G	unknown	Het
Erg28	T	C	12: 85,866,254 (GRCm39)	T75A	possibly damaging	Het
Fam135b	T	A	15: 71,350,881 (GRCm39)	T332S	probably damaging	Het
Fam221b	A	G	4: 43,660,683 (GRCm39)	F357L	probably damaging	Het
Fcgr2b	C	T	1: 170,790,957 (GRCm39)	G279R	probably damaging	Het
Fryl	A	T	5: 73,230,121 (GRCm39)	L1679M	probably damaging	Het
Galm	T	A	17: 80,435,146 (GRCm39)	M1K	probably null	Het
Gsg1	A	T	6: 135,221,348 (GRCm39)	I17N	possibly damaging	Het
Hif3a	A	T	7: 16,785,909 (GRCm39)	I129N	probably damaging	Het
Ighv1-11	A	T	12: 114,576,051 (GRCm39)	W55R	probably damaging	Het
Ighv1-20	C	A	12: 114,687,497 (GRCm39)	K82N	probably benign	Het
Igsf21	C	T	4: 139,764,832 (GRCm39)	E148K	probably benign	Het
Il22b	C	A	10: 118,130,768 (GRCm39)	E43*	probably null	Het
Klhdc7b	A	T	15: 89,271,523 (GRCm39)	R802W	probably damaging	Het
Lrrc7	A	G	3: 157,876,380 (GRCm39)	L570P	probably damaging	Het
Map4k1	C	G	7: 28,693,646 (GRCm39)	N412K	probably benign	Het
Metrnl	A	T	11: 121,605,564 (GRCm39)	I118F	possibly damaging	Het
Mmp12	T	A	9: 7,350,106 (GRCm39)	D202E	probably damaging	Het
Mpp2	A	T	11: 101,955,269 (GRCm39)	S119T	probably benign	Het
Ncoa6	T	C	2: 155,248,688 (GRCm39)	T1539A	probably benign	Het
Nlrc5	A	G	8: 95,206,154 (GRCm39)	T715A	possibly damaging	Het
Nsd1	T	A	13: 55,454,792 (GRCm39)	N1963K	probably damaging	Het
Nsd3	T	C	8: 26,149,834 (GRCm39)	Y340H	probably damaging	Het
Nwd1	T	A	8: 73,419,745 (GRCm39)	S977T	probably damaging	Het
Or5d39	T	A	2: 87,979,961 (GRCm39)	Y134F	probably damaging	Het
Or7d10	G	T	9: 19,832,337 (GRCm39)	M277I	probably benign	Het
Pcdh8	T	C	14: 80,008,197 (GRCm39)	E122G	probably damaging	Het
Pcmtd2	A	C	2: 181,496,991 (GRCm39)	T323P	probably benign	Het
Pign	C	A	1: 105,519,447 (GRCm39)	G492C	probably damaging	Het
Plppr3	A	G	10: 79,702,337 (GRCm39)	V245A	possibly damaging	Het
Prl7a2	C	T	13: 27,844,983 (GRCm39)	W134*	probably null	Het
Prom1	A	T	5: 44,164,389 (GRCm39)	N722K	probably benign	Het
Rasal2	A	T	1: 156,988,860 (GRCm39)	N663K	probably damaging	Het
Rgl1	G	T	1: 152,428,172 (GRCm39)	H315Q	probably benign	Het
Smpdl3a	C	A	10: 57,677,097 (GRCm39)	A65E	probably damaging	Het
Spdye4b	G	A	5: 143,188,142 (GRCm39)	D212N	probably damaging	Het
Tafa3	T	A	3: 104,679,505 (GRCm39)	K126N	probably damaging	Het
Tanc1	G	T	2: 59,529,691 (GRCm39)		probably null	Het
Trio	A	G	15: 27,856,250 (GRCm39)	V706A	probably benign	Het
Tshz1	T	A	18: 84,033,805 (GRCm39)	Q201L	probably damaging	Het
Ubqln1	C	T	13: 58,331,131 (GRCm39)	M365I	probably benign	Het
Usp42	A	T	5: 143,705,331 (GRCm39)	Y383N	probably damaging	Het
Vmn1r189	A	G	13: 22,286,552 (GRCm39)	I95T	probably damaging	Het
Vmn2r49	A	T	7: 9,710,274 (GRCm39)	S819R	probably 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
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'- CCCAAGCCAAAGGGTATGAG -3'
(R):5'- CTACAAGATGTCCACCTCCG -3'

Sequencing Primer
(F):5'- CCAAGCCAAAGGGTATGAGAGAAG -3'
(R):5'- TCGTTCACGAGTGGACCC -3'

Posted On

2016-12-15