Mutagenetix > Incidental Mutation

Incidental Mutation 'R5927:Krt80'

459978

Institutional Source

Beutler Lab

Gene Symbol

Krt80

Ensembl Gene

ENSMUSG00000037185

Gene Name

keratin 80

Synonyms

2310041I20Rik, Kb20, 1200016G03Rik

MMRRC Submission

044122-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5927 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

101246196-101268043 bp(-) (GRCm39)

Type of Mutation

critical splice donor site

DNA Base Change (assembly)

A to G at 101262089 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000155346 (fasta)

Gene Model

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

AlphaFold

Q0VBK2

Predicted Effect

probably benign
Transcript: ENSMUST00000077196

SMART Domains

Protein: ENSMUSP00000076437
Gene: ENSMUSG00000037185

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: ENSMUST00000077196

SMART Domains

Protein: ENSMUSP00000076437
Gene: ENSMUSG00000037185

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

noncoding transcript
Transcript: ENSMUST00000229267

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229584

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229658

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230107

Predicted Effect

probably benign
Transcript: ENSMUST00000230831

Predicted Effect

probably benign
Transcript: ENSMUST00000230831

Predicted Effect

probably benign
Transcript: ENSMUST00000230909

Predicted Effect

probably benign
Transcript: ENSMUST00000230909

Meta Mutation Damage Score

0.0808

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.0%

Validation Efficiency

100% (73/73)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadm	T	A	3: 153,644,745 (GRCm39)	I60F	probably damaging	Het
Ankrd26	A	G	6: 118,484,597 (GRCm39)		probably null	Het
Arhgdib	A	T	6: 136,901,136 (GRCm39)	W198R	probably damaging	Het
Atad5	T	A	11: 80,018,111 (GRCm39)	I1354N	probably damaging	Het
Ccdc146	T	A	5: 21,513,619 (GRCm39)	K500*	probably null	Het
Cdk11b	G	A	4: 155,732,697 (GRCm39)		probably benign	Het
Cmip	A	T	8: 117,984,048 (GRCm39)	T70S	possibly damaging	Het
Col22a1	G	T	15: 71,878,815 (GRCm39)	A114E	probably damaging	Het
Cpeb1	T	C	7: 81,011,428 (GRCm39)	D171G	possibly damaging	Het
Crebzf	C	T	7: 90,093,531 (GRCm39)		probably benign	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
D630036H23Rik	C	A	12: 36,431,671 (GRCm39)		probably benign	Het
Dnah5	A	T	15: 28,335,864 (GRCm39)	T2277S	probably benign	Het
Dysf	T	A	6: 84,184,194 (GRCm39)	F2083Y	probably damaging	Het
Elavl4	T	A	4: 110,147,440 (GRCm39)		probably benign	Het
Elp3	A	G	14: 65,819,626 (GRCm39)	Y111H	probably damaging	Het
Eps8l2	A	T	7: 140,936,259 (GRCm39)	Q243L	probably benign	Het
Eri2	C	A	7: 119,385,291 (GRCm39)	L403F	probably damaging	Het
Fgfr4	T	A	13: 55,314,700 (GRCm39)	N614K	probably damaging	Het
Gm5108	T	G	5: 68,134,214 (GRCm39)	I74S	unknown	Het
Gpn1	T	C	5: 31,658,235 (GRCm39)	F130L	probably damaging	Het
Gpr176	T	A	2: 118,203,521 (GRCm39)	I50F	probably benign	Het
Gramd1a	A	G	7: 30,839,246 (GRCm39)	S221P	probably benign	Het
Hivep3	A	G	4: 119,954,305 (GRCm39)	T874A	possibly damaging	Het
Igkv12-40	A	G	6: 69,856,383 (GRCm39)		noncoding transcript	Het
Itgb2	C	A	10: 77,381,868 (GRCm39)	P57T	probably damaging	Het
Kcmf1	T	A	6: 72,819,988 (GRCm39)	D286V	possibly damaging	Het
Kcnt1	T	A	2: 25,799,388 (GRCm39)		probably benign	Het
Kif15	A	G	9: 122,846,326 (GRCm39)	S76G	probably benign	Het
Kpna3	C	T	14: 61,622,096 (GRCm39)	V223I	probably damaging	Het
Lama4	A	G	10: 38,948,808 (GRCm39)	Y857C	probably damaging	Het
Lcorl	G	T	5: 45,882,766 (GRCm39)		probably benign	Het
Map4k3	A	G	17: 80,921,348 (GRCm39)	V528A	probably benign	Het
Mmp8	T	A	9: 7,563,203 (GRCm39)	N255K	possibly damaging	Het
Npat	A	T	9: 53,473,521 (GRCm39)	K438*	probably null	Het
Or4a73	T	A	2: 89,421,444 (GRCm39)	N5I	possibly damaging	Het
P4htm	T	C	9: 108,474,582 (GRCm39)	Y61C	probably damaging	Het
Pgap6	T	C	17: 26,340,972 (GRCm39)	Y692H	probably benign	Het
Polr3h	G	T	15: 81,801,480 (GRCm39)		probably null	Het
Prlr	C	T	15: 10,322,532 (GRCm39)	T176I	probably benign	Het
Psme4	T	G	11: 30,754,294 (GRCm39)	F184V	possibly damaging	Het
Ptgfrn	A	T	3: 100,967,968 (GRCm39)	F542I	possibly damaging	Het
Rock1	T	C	18: 10,116,792 (GRCm39)	E448G	probably damaging	Het
Rpf1	A	T	3: 146,225,218 (GRCm39)		probably null	Het
Sectm1b	T	C	11: 120,946,500 (GRCm39)	I132V	probably benign	Het
Sestd1	T	A	2: 77,017,503 (GRCm39)	H688L	probably benign	Het
Sidt2	T	C	9: 45,855,752 (GRCm39)	Y530C	probably damaging	Het
Sin3a	A	T	9: 57,018,395 (GRCm39)	K938M	probably damaging	Het
Sin3b	C	A	8: 73,476,506 (GRCm39)	R647S	probably benign	Het
Slc16a14	T	C	1: 84,889,988 (GRCm39)	H439R	possibly damaging	Het
Stc1	T	C	14: 69,269,822 (GRCm39)	V134A	probably benign	Het
Stk11ip	G	A	1: 75,501,335 (GRCm39)	V24I	possibly damaging	Het
Tbx6	G	A	7: 126,384,025 (GRCm39)	A359T	possibly damaging	Het
Thra	G	A	11: 98,654,514 (GRCm39)	V295I	possibly damaging	Het
Tnr	T	C	1: 159,740,336 (GRCm39)	M1170T	probably damaging	Het
Tpcn2	T	A	7: 144,832,521 (GRCm39)	I112F	probably damaging	Het
Trdv2-2	T	C	14: 54,198,998 (GRCm39)	L96P	probably damaging	Het
Trim24	T	A	6: 37,935,504 (GRCm39)	W832R	probably damaging	Het
Usp4	T	G	9: 108,268,959 (GRCm39)	S891A	probably benign	Het
Vmn1r88	A	T	7: 12,912,440 (GRCm39)	R265S	probably benign	Het
Vmn2r118	A	G	17: 55,931,494 (GRCm39)	L60S	probably benign	Het
Wdr74	T	C	19: 8,717,197 (GRCm39)	C220R	possibly damaging	Het
Xpo1	A	T	11: 23,218,653 (GRCm39)		probably benign	Het
Xpo1	A	T	11: 23,218,656 (GRCm39)		probably benign	Het
Zfp850	C	A	7: 27,689,620 (GRCm39)	G196V	probably benign	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
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
R9686:Krt80	UTSW	15	101,262,281 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGTCAGTGTTATAGGTTCTTCCCATAC -3'
(R):5'- TCTTGCAGGTCCAAGCTCTG -3'

Sequencing Primer
(F):5'- ATAGGTTCTTCCCATACCTGCAG -3'
(R):5'- AACTGCTGGAGACCCGATG -3'

Posted On

2017-02-28