Mutagenetix > Incidental Mutation

Incidental Mutation 'R8218:Krt80'

636512

Institutional Source

Beutler Lab

Gene Symbol

Krt80

Ensembl Gene

ENSMUSG00000037185

Gene Name

keratin 80

Synonyms

2310041I20Rik, Kb20, 1200016G03Rik

MMRRC Submission

067637-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8218 (G1)

Quality Score

121.008

Status

Validated

Chromosome

Chromosomal Location

101246196-101268043 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 101267884 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 18 (M18L)

Ref Sequence

ENSEMBL: ENSMUSP00000076437 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077196]

AlphaFold

Q0VBK2

Predicted Effect

probably benign
Transcript: ENSMUST00000077196
AA Change: M18L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000076437
Gene: ENSMUSG00000037185
AA Change: M18L

Domain	Start	End	E-Value	Type
Pfam:Keratin_2_head	2	79	2.5e-12	PFAM
Filament	82	393	2.18e-113	SMART
low complexity region	419	430	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.9%
10x: 99.5%
20x: 98.6%

Validation Efficiency

99% (72/73)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into epithelial keratins and hair keratins. This gene's expression profile shows that it encodes a type II epithelial keratin, although structurally the encoded protein is more like a type II hair keratin. This protein is involved in cell differentiation, localizing near desmosomal plaques in earlier stages of differentiation but then dispersing throughout the cytoplasm in terminally differentiating cells. The type II keratins are clustered in a region of chromosome 12q13. Two transcript variants encoding two different fully functional isoforms have been found for this gene.[provided by RefSeq, Oct 2010]

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5031439G07Rik	G	A	15: 84,839,668 (GRCm39)	H191Y	probably damaging	Het
5730480H06Rik	T	A	5: 48,536,769 (GRCm39)	L155*	probably null	Het
Ackr4	T	C	9: 103,976,410 (GRCm39)	N179S	probably benign	Het
Acp5	T	C	9: 22,040,902 (GRCm39)	Y107C	probably damaging	Het
Aff4	A	T	11: 53,289,084 (GRCm39)	H411L	probably damaging	Het
Atp5pb	A	G	3: 105,866,502 (GRCm39)	M1T	probably null	Het
Atp8b5	G	A	4: 43,372,728 (GRCm39)		probably null	Het
C1qtnf2	A	G	11: 43,381,775 (GRCm39)	T166A	possibly damaging	Het
Dctn2	A	G	10: 127,112,398 (GRCm39)	D170G	probably damaging	Het
Dennd3	T	A	15: 73,384,622 (GRCm39)	S10T	probably benign	Het
Ehbp1	T	C	11: 22,046,096 (GRCm39)	Y551C	possibly damaging	Het
Eif4g2	A	T	7: 110,673,639 (GRCm39)	D743E	possibly damaging	Het
Esr1	G	A	10: 4,696,808 (GRCm39)		probably null	Het
Exo1	A	T	1: 175,728,480 (GRCm39)	I515L	probably benign	Het
Fam83h	C	T	15: 75,874,886 (GRCm39)	G817D	probably damaging	Het
Flvcr2	GTAGTGTATA	GTA	12: 85,849,922 (GRCm39)		probably null	Het
Garin1a	T	C	6: 29,286,072 (GRCm39)	I177T	probably damaging	Het
Gcn1	G	A	5: 115,719,588 (GRCm39)	S361N	probably benign	Het
Gm6337	C	T	14: 6,050,613 (GRCm38)		probably null	Het
Grk4	T	A	5: 34,826,540 (GRCm39)	S47T	probably benign	Het
Gstp2	C	A	19: 4,091,668 (GRCm39)	M20I	probably benign	Het
Harbi1	T	C	2: 91,543,237 (GRCm39)	F233L	probably benign	Het
Iqch	C	T	9: 63,389,915 (GRCm39)	V755I	possibly damaging	Het
Iws1	T	C	18: 32,226,688 (GRCm39)	F756L	probably benign	Het
Kcnh6	T	G	11: 105,908,200 (GRCm39)	V272G	possibly damaging	Het
Kcnj10	C	T	1: 172,196,539 (GRCm39)	R18C	probably damaging	Het
Kmt2c	A	C	5: 25,488,104 (GRCm39)	S4670A	probably damaging	Het
Lbx1	A	G	19: 45,223,359 (GRCm39)	V103A	probably benign	Het
Marchf8	A	T	6: 116,315,059 (GRCm39)		probably benign	Het
Muc16	T	A	9: 18,548,315 (GRCm39)	T5993S	possibly damaging	Het
Or10ag57	C	T	2: 87,218,922 (GRCm39)	T291I	probably damaging	Het
Or1j17	A	G	2: 36,578,685 (GRCm39)	T224A	probably benign	Het
Or1o4	A	G	17: 37,590,711 (GRCm39)	V200A	probably benign	Het
Or8k17	C	T	2: 86,066,862 (GRCm39)	V106M	probably benign	Het
Pbxip1	A	G	3: 89,352,902 (GRCm39)	I183V	probably benign	Het
Pcdh20	T	A	14: 88,706,047 (GRCm39)	I418F	probably damaging	Het
Pclo	T	C	5: 14,725,677 (GRCm39)	F1512L	unknown	Het
Phf2	G	T	13: 48,958,104 (GRCm39)	T970K	unknown	Het
Pidd1	A	G	7: 141,019,566 (GRCm39)	V698A	probably damaging	Het
Pik3ca	T	A	3: 32,491,996 (GRCm39)	V198D	possibly damaging	Het
Pip5k1c	T	A	10: 81,142,250 (GRCm39)	D153E	probably damaging	Het
Ppfia2	A	G	10: 106,699,236 (GRCm39)	D795G	probably benign	Het
Pramel12	A	T	4: 143,145,706 (GRCm39)	I392F	probably benign	Het
Prkar2a	C	A	9: 108,596,448 (GRCm39)	A131D	possibly damaging	Het
Pter	A	G	2: 12,985,366 (GRCm39)	D232G	probably damaging	Het
Qser1	C	T	2: 104,593,268 (GRCm39)	R1583Q	probably damaging	Het
Rasal2	A	C	1: 156,984,951 (GRCm39)	V932G	probably damaging	Het
Rasgrf2	G	A	13: 92,130,796 (GRCm39)	A154V		Het
Rbm4	A	G	19: 4,837,444 (GRCm39)	Y347H	probably damaging	Het
Rfxank	C	A	8: 70,584,085 (GRCm39)		probably null	Het
Robo1	C	G	16: 72,786,678 (GRCm39)	R897G	possibly damaging	Het
Sash1	G	A	10: 8,627,000 (GRCm39)	T364I	probably damaging	Het
Skint6	T	A	4: 112,696,471 (GRCm39)		probably null	Het
Slc22a4	T	A	11: 53,877,407 (GRCm39)	M495L	probably benign	Het
Slc39a8	G	A	3: 135,563,325 (GRCm39)	V212I	probably benign	Het
Slc40a1	A	C	1: 45,950,129 (GRCm39)	V441G	probably benign	Het
Slc7a11	A	T	3: 50,378,501 (GRCm39)	Y246N	probably damaging	Het
Spata9	T	C	13: 76,125,892 (GRCm39)	V125A	probably benign	Het
Svopl	T	A	6: 37,991,741 (GRCm39)	M380L	probably benign	Het
Sycp2l	T	C	13: 41,271,544 (GRCm39)	Y23H	probably damaging	Het
Syt11	A	T	3: 88,669,427 (GRCm39)	V155E	probably benign	Het
Syt5	T	C	7: 4,545,822 (GRCm39)	Y147C	probably damaging	Het
Thg1l	T	C	11: 45,846,277 (GRCm39)	T6A	probably benign	Het
Tlr2	A	G	3: 83,745,546 (GRCm39)	L179P	probably damaging	Het
Tsn	A	T	1: 118,232,984 (GRCm39)	Y107N	probably damaging	Het
Tspan32	A	T	7: 142,564,832 (GRCm39)	Y114F	probably benign	Het
Tube1	A	C	10: 39,023,375 (GRCm39)	S341R	possibly damaging	Het
Ubn2	T	A	6: 38,466,214 (GRCm39)	V516D	probably benign	Het
Vmn1r21	G	T	6: 57,820,910 (GRCm39)	T178K	noncoding transcript	Het
Vmn2r108	A	G	17: 20,683,465 (GRCm39)	Y580H	probably damaging	Het
Wdr75	T	A	1: 45,857,342 (GRCm39)	F546L	probably damaging	Het
Yy1	A	G	12: 108,759,619 (GRCm39)	D94G	probably benign	Het
Zfhx3	A	G	8: 109,677,349 (GRCm39)	T2800A	probably benign	Het
Zfy2	T	C	Y: 2,133,421 (GRCm39)	T9A	unknown	Het

Other mutations in Krt80

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00980:Krt80	APN	15	101,247,879 (GRCm39)	missense	possibly damaging	0.64
IGL03184:Krt80	APN	15	101,250,135 (GRCm39)	missense	probably damaging	1.00
1mM(1):Krt80	UTSW	15	101,262,089 (GRCm39)	critical splice donor site	probably null
R0394:Krt80	UTSW	15	101,250,180 (GRCm39)	missense	probably damaging	0.97
R0520:Krt80	UTSW	15	101,267,898 (GRCm39)	missense	probably benign	0.00
R1654:Krt80	UTSW	15	101,249,590 (GRCm39)	missense	probably damaging	0.96
R2436:Krt80	UTSW	15	101,257,384 (GRCm39)	missense	probably damaging	0.98
R4326:Krt80	UTSW	15	101,250,189 (GRCm39)	missense	possibly damaging	0.52
R5292:Krt80	UTSW	15	101,250,066 (GRCm39)	missense	probably damaging	1.00
R5783:Krt80	UTSW	15	101,257,360 (GRCm39)	critical splice donor site	probably null
R5927:Krt80	UTSW	15	101,262,089 (GRCm39)	critical splice donor site	probably benign
R6847:Krt80	UTSW	15	101,256,610 (GRCm39)	missense	probably benign	0.03
R9295:Krt80	UTSW	15	101,249,652 (GRCm39)	missense	probably benign	0.00
R9376:Krt80	UTSW	15	101,247,978 (GRCm39)	missense	unknown
R9686:Krt80	UTSW	15	101,262,281 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACAGCTGGATCCACCTTGAG -3'
(R):5'- ACTAACAGGTTGGTCTGGCTTG -3'

Sequencing Primer
(F):5'- TTGAGGTCCAGAGGCACCAG -3'
(R):5'- ACACTATGCAACAGGTGTTTTCGC -3'

Posted On

2020-07-13