Mutagenetix > Incidental Mutation

Incidental Mutation 'R6875:Krt8'

536398

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

044971-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6875 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

101905146-101912777 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 101906343 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 389 (A389T)

Ref Sequence

ENSEMBL: ENSMUSP00000023952 (fasta)

Gene Model

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

AlphaFold

P11679

Predicted Effect

probably benign
Transcript: ENSMUST00000023952
AA Change: A389T

PolyPhen 2 Score 0.440 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000023952
Gene: ENSMUSG00000049382
AA Change: A389T

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: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

Validation Efficiency

98% (58/59)

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
6030458C11Rik	T	C	15: 12,812,154 (GRCm39)	H270R	probably damaging	Het
Abcb1a	T	C	5: 8,751,628 (GRCm39)	I336T	probably benign	Het
Adam19	T	A	11: 46,003,702 (GRCm39)	F177I	probably benign	Het
Ankrd53	T	C	6: 83,745,155 (GRCm39)	V455A	probably damaging	Het
Arrdc1	A	G	2: 24,815,677 (GRCm39)	S415P	probably benign	Het
Atp10a	T	C	7: 58,447,100 (GRCm39)	L614P	probably benign	Het
Catsper1	G	T	19: 5,393,991 (GRCm39)	V668F	probably damaging	Het
Cluh	T	A	11: 74,552,744 (GRCm39)	D596E	probably damaging	Het
Cnot10	A	G	9: 114,444,175 (GRCm39)	S407P	probably benign	Het
Commd6	T	C	14: 101,871,786 (GRCm39)	T86A	probably damaging	Het
D5Ertd579e	A	T	5: 36,762,001 (GRCm39)		probably null	Het
Eif3l	A	G	15: 78,969,760 (GRCm39)	D252G	probably damaging	Het
Epha2	A	T	4: 141,055,779 (GRCm39)	S962C	probably damaging	Het
Fcho1	C	A	8: 72,167,069 (GRCm39)		probably null	Het
Fgf23	G	T	6: 127,050,179 (GRCm39)	G63C	probably damaging	Het
Flnc	A	T	6: 29,445,748 (GRCm39)	Y834F	probably damaging	Het
Gcn1	T	C	5: 115,726,169 (GRCm39)	L608P	probably damaging	Het
Hdac5	T	A	11: 102,093,102 (GRCm39)	E545V	probably damaging	Het
Hecw2	A	T	1: 53,976,291 (GRCm39)	M166K	probably benign	Het
Ikbkb	T	C	8: 23,155,909 (GRCm39)	D586G	probably damaging	Het
Il36g	G	C	2: 24,078,633 (GRCm39)		probably null	Het
Ipo13	A	T	4: 117,762,108 (GRCm39)	I422N	possibly damaging	Het
Iqgap3	GGAGAG	GGAG	3: 88,020,078 (GRCm39)		probably null	Het
Kat6a	G	A	8: 23,422,377 (GRCm39)	A896T	probably benign	Het
Kif28	A	G	1: 179,563,559 (GRCm39)	I139T	probably damaging	Het
Klhl25	A	G	7: 75,516,090 (GRCm39)	E332G	probably damaging	Het
Msrb3	T	C	10: 120,620,011 (GRCm39)	S175G	probably benign	Het
Muc5ac	C	T	7: 141,363,481 (GRCm39)		probably benign	Het
Myo10	T	C	15: 25,805,745 (GRCm39)	Y1709H	probably benign	Het
Nckap5	A	G	1: 125,950,931 (GRCm39)	S1519P	probably benign	Het
Npnt	T	A	3: 132,615,671 (GRCm39)	D124V	probably damaging	Het
Nr1d1	A	T	11: 98,661,662 (GRCm39)		probably null	Het
Ogdh	A	G	11: 6,290,477 (GRCm39)	Y365C	probably benign	Het
Or4f56	A	T	2: 111,703,306 (GRCm39)	I298N	possibly damaging	Het
Phf21b	A	T	15: 84,671,647 (GRCm39)	C416S	probably damaging	Het
Prpsap1	A	G	11: 116,362,264 (GRCm39)	S373P	probably damaging	Het
Qrfprl	A	T	6: 65,433,320 (GRCm39)	N380I	probably benign	Het
Rab28	T	C	5: 41,860,877 (GRCm39)	T26A	probably damaging	Het
Rbbp8nl	A	G	2: 179,921,019 (GRCm39)	I455T	probably benign	Het
Rnft2	G	A	5: 118,366,883 (GRCm39)	A285V	possibly damaging	Het
Rrp36	G	T	17: 46,983,297 (GRCm39)	Q106K	probably benign	Het
Rsf1	CG	CGACGGCGGAG	7: 97,229,115 (GRCm39)		probably benign	Het
Runx2	G	A	17: 45,125,079 (GRCm39)	P80L	probably damaging	Het
Scn5a	A	G	9: 119,315,710 (GRCm39)	L1666P	probably damaging	Het
Siglecf	A	C	7: 43,004,624 (GRCm39)	T318P	probably benign	Het
Slc22a1	C	T	17: 12,886,192 (GRCm39)	W147*	probably null	Het
Smchd1	T	C	17: 71,660,501 (GRCm39)	I1868V	probably damaging	Het
Snx21	A	G	2: 164,633,822 (GRCm39)	S203G	probably damaging	Het
Srl	T	C	16: 4,300,695 (GRCm39)	K792R	probably benign	Het
Srrt	A	G	5: 137,296,935 (GRCm39)	F100S	probably benign	Het
Stard9	G	T	2: 120,527,917 (GRCm39)	M1391I	probably benign	Het
Syne2	A	G	12: 76,082,404 (GRCm39)	E119G	probably damaging	Het
Syt11	G	T	3: 88,669,462 (GRCm39)	S143R	possibly damaging	Het
Tiparp	T	A	3: 65,439,063 (GRCm39)	H126Q	probably benign	Het
Tulp2	C	A	7: 45,168,038 (GRCm39)	T150K	probably benign	Het
Ugt2b37	T	A	5: 87,390,288 (GRCm39)	Y386F	probably benign	Het
Usp31	C	T	7: 121,248,863 (GRCm39)	W860*	probably null	Het
Zfp317	A	G	9: 19,554,961 (GRCm39)	R30G	probably damaging	Het
Zfp709	C	A	8: 72,642,851 (GRCm39)	N93K	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
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
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'- GAATGCTCATGTTCTGCATCCC -3'
(R):5'- TATGTCTCCTTCCCCACAGAGG -3'

Sequencing Primer
(F):5'- AGCCTGTAACCAGATGCGTG -3'
(R):5'- CCACAGAGGGCATCGTTG -3'

Posted On

2018-10-18