Mutagenetix > Incidental Mutation

Incidental Mutation 'R9686:Krt80'

728871

Institutional Source

Beutler Lab

Gene Symbol

Krt80

Ensembl Gene

ENSMUSG00000037185

Gene Name

keratin 80

Synonyms

2310041I20Rik, Kb20, 1200016G03Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9686 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

101246196-101268043 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 101262281 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 107 (R107C)

Ref Sequence

ENSEMBL: ENSMUSP00000076437 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077196] [ENSMUST00000230831] [ENSMUST00000230909]

AlphaFold

Q0VBK2

Predicted Effect

probably damaging
Transcript: ENSMUST00000077196
AA Change: R107C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000076437
Gene: ENSMUSG00000037185
AA Change: R107C

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

Predicted Effect

probably benign
Transcript: ENSMUST00000230831

Predicted Effect

probably damaging
Transcript: ENSMUST00000230909
AA Change: R54C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc3	A	G	11: 94,247,867 (GRCm39)	F1209L	probably benign	Het
Adamts19	A	G	18: 58,971,093 (GRCm39)	T226A	probably benign	Het
Akap13	A	G	7: 75,236,084 (GRCm39)	T220A	probably damaging	Het
Ank2	T	A	3: 126,740,550 (GRCm39)	E1778V	unknown	Het
Aspn	T	C	13: 49,710,829 (GRCm39)	I158T	probably damaging	Het
Btbd1	A	G	7: 81,455,598 (GRCm39)	C258R	probably damaging	Het
Btla	A	G	16: 45,070,872 (GRCm39)	N278S	probably damaging	Het
Cap2	A	G	13: 46,678,926 (GRCm39)	E12G	probably damaging	Het
Ccdc171	A	G	4: 83,467,919 (GRCm39)	Y88C	probably damaging	Het
Ceacam3	C	T	7: 16,892,123 (GRCm39)	L289F		Het
Cenpj	G	A	14: 56,790,048 (GRCm39)	A667V	probably benign	Het
Clu	G	T	14: 66,212,454 (GRCm39)	G136C	probably damaging	Het
Col4a4	A	T	1: 82,474,962 (GRCm39)	F626I	unknown	Het
Csf2ra	A	G	19: 61,213,629 (GRCm39)	F360S	probably damaging	Het
Cyp27b1	T	A	10: 126,886,185 (GRCm39)	S289T	probably benign	Het
Dnah17	G	T	11: 117,979,048 (GRCm39)	H1781Q	possibly damaging	Het
Epha8	G	T	4: 136,665,897 (GRCm39)	L420M	probably damaging	Het
Fap	T	C	2: 62,403,857 (GRCm39)	K6R	possibly damaging	Het
Fcer1a	A	G	1: 173,052,980 (GRCm39)	V72A	possibly damaging	Het
Flnc	T	C	6: 29,456,434 (GRCm39)	S2211P	possibly damaging	Het
Gm20939	A	T	17: 95,184,888 (GRCm39)	H512L	probably damaging	Het
Gng12	T	C	6: 66,994,529 (GRCm39)	S59P	probably damaging	Het
Grin1	A	C	2: 25,203,522 (GRCm39)	I163S	probably benign	Het
Haus5	A	G	7: 30,361,398 (GRCm39)	I74T	probably benign	Het
Hmcn1	G	A	1: 150,613,356 (GRCm39)	P1357L	probably damaging	Het
Kcnv1	A	G	15: 44,972,500 (GRCm39)	I461T	probably benign	Het
Kmo	A	G	1: 175,459,786 (GRCm39)	M1V	probably null	Het
Macf1	A	G	4: 123,377,491 (GRCm39)	V1481A	possibly damaging	Het
Masp1	A	G	16: 23,314,887 (GRCm39)	S125P	probably damaging	Het
Mroh2b	C	T	15: 4,974,605 (GRCm39)	P1195L	probably benign	Het
Neurl3	A	T	1: 36,305,539 (GRCm39)	W223R	probably benign	Het
Or10h28	A	G	17: 33,487,853 (GRCm39)	T52A	probably benign	Het
Or5g27	T	A	2: 85,410,340 (GRCm39)	Y252*	probably null	Het
Or5k1b	T	C	16: 58,581,126 (GRCm39)	K138E	possibly damaging	Het
Or5m9	A	T	2: 85,877,335 (GRCm39)	I170F	probably benign	Het
Pcdhb4	A	C	18: 37,442,943 (GRCm39)	Y751S	probably damaging	Het
Pcnx2	C	A	8: 126,592,766 (GRCm39)	A733S	probably benign	Het
Pde4a	A	G	9: 21,117,562 (GRCm39)	E608G	probably benign	Het
Pfdn2	G	A	1: 171,185,377 (GRCm39)	E98K	unknown	Het
Pikfyve	T	A	1: 65,291,615 (GRCm39)	V1278D	probably damaging	Het
Ptprb	A	T	10: 116,204,694 (GRCm39)	T1843S	probably damaging	Het
Rab12	G	T	17: 66,826,513 (GRCm39)	A66E	probably benign	Het
Ralyl	T	C	3: 13,841,887 (GRCm39)		probably benign	Het
Rbm47	A	T	5: 66,179,969 (GRCm39)		probably null	Het
Rev3l	T	A	10: 39,743,384 (GRCm39)	D3038E	possibly damaging	Het
Rhobtb2	A	G	14: 70,034,005 (GRCm39)	F407L	probably benign	Het
S100pbp	A	T	4: 129,049,271 (GRCm39)	D332E	probably damaging	Het
Slc9c1	T	C	16: 45,400,577 (GRCm39)	V729A	possibly damaging	Het
Slfn5	A	T	11: 82,848,001 (GRCm39)	E295D	probably benign	Het
Smarcc2	A	G	10: 128,316,775 (GRCm39)	S518G	probably damaging	Het
Sorbs1	T	C	19: 40,381,954 (GRCm39)	D29G	probably damaging	Het
Spata13	G	A	14: 60,989,108 (GRCm39)	E925K	probably damaging	Het
Spen	A	G	4: 141,199,946 (GRCm39)	S2894P	probably benign	Het
Taar7a	G	A	10: 23,869,309 (GRCm39)	T24I	probably benign	Het
Taf4b	C	A	18: 14,932,215 (GRCm39)	T189N	possibly damaging	Het
Tle7	T	A	8: 110,836,563 (GRCm39)	W180R	probably damaging	Het
Ube2o	A	T	11: 116,434,779 (GRCm39)	C561S	probably benign	Het
Usp34	T	A	11: 23,424,351 (GRCm39)	I3213N		Het
Vmn1r103	A	G	7: 20,244,353 (GRCm39)	V36A	possibly damaging	Het
Vmn2r65	G	A	7: 84,590,084 (GRCm39)	L611F	probably benign	Het
Zfp51	C	T	17: 21,683,871 (GRCm39)	S162F	probably damaging	Het
Zfp518b	G	A	5: 38,831,457 (GRCm39)	H183Y	probably damaging	Het
Zfp622	A	G	15: 25,985,141 (GRCm39)	E169G	probably benign	Het
Zfp703	A	G	8: 27,469,044 (GRCm39)	D236G	probably damaging	Het
Zfp839	A	T	12: 110,821,932 (GRCm39)	I249F	probably damaging	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
R8218:Krt80	UTSW	15	101,267,884 (GRCm39)	missense	probably benign
R9295:Krt80	UTSW	15	101,249,652 (GRCm39)	missense	probably benign	0.00
R9376:Krt80	UTSW	15	101,247,978 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- AGTGTGAGACCTACCTGACG -3'
(R):5'- TCTGCATCTTCGACTCAACAGC -3'

Sequencing Primer
(F):5'- TGAGACCTACCTGACGCGAAAC -3'
(R):5'- CAAGAACTGGCGGTGGCTTTG -3'

Posted On

2022-10-06