Mutagenetix > Incidental Mutation

Incidental Mutation 'R0762:Krt77'

262271

Institutional Source

Beutler Lab

Gene Symbol

Krt77

Ensembl Gene

ENSMUSG00000067594

Gene Name

keratin 77

Synonyms

4732484G22Rik

MMRRC Submission

038942-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0762 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

101767166-101778140 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 101769561 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000085311 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087996]

AlphaFold

Q6IFZ6

Predicted Effect

probably null
Transcript: ENSMUST00000087996

SMART Domains

Protein: ENSMUSP00000085311
Gene: ENSMUSG00000067594

Domain	Start	End	E-Value	Type
Pfam:Keratin_2_head	4	163	1.5e-46	PFAM
Filament	166	479	6.11e-149	SMART
low complexity region	485	497	N/A	INTRINSIC
low complexity region	500	543	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229995

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.2%
20x: 93.9%

Validation Efficiency

100% (61/61)

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 encodes an epithelial keratin that is expressed in the skin and eccrine sweat glands. The type II keratins are clustered in a region of chromosome 12q13.[provided by RefSeq, Jun 2009]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921504E06Rik	T	A	2: 19,482,667 (GRCm39)	N475I	probably damaging	Het
Adar	T	C	3: 89,647,290 (GRCm39)		probably benign	Het
Aldh3b3	A	T	19: 4,015,747 (GRCm39)		probably null	Het
Amtn	C	T	5: 88,532,859 (GRCm39)	T158I	possibly damaging	Het
Ap1g2	A	G	14: 55,337,868 (GRCm39)		probably benign	Het
Arhgef3	A	G	14: 27,119,584 (GRCm39)	Y318C	probably damaging	Het
Atg2b	A	C	12: 105,641,229 (GRCm39)	V69G	possibly damaging	Het
Bbx	G	A	16: 50,045,529 (GRCm39)	T236I	possibly damaging	Het
Bcl11b	C	T	12: 107,931,922 (GRCm39)		probably benign	Het
Catsperg1	T	C	7: 28,889,377 (GRCm39)	I794V	probably benign	Het
Ccdc88a	C	T	11: 29,413,112 (GRCm39)		probably benign	Het
Cdhr3	C	A	12: 33,110,300 (GRCm39)	R328L	probably benign	Het
Ces2e	T	A	8: 105,656,496 (GRCm39)	M242K	probably damaging	Het
Col12a1	A	G	9: 79,588,656 (GRCm39)		probably benign	Het
Col3a1	T	C	1: 45,360,686 (GRCm39)	S39P	unknown	Het
Cplane1	A	G	15: 8,247,900 (GRCm39)		probably benign	Het
Cyp2a5	T	A	7: 26,538,298 (GRCm39)	Y220*	probably null	Het
Dcc	T	A	18: 71,475,776 (GRCm39)		probably benign	Het
Dnajb8	A	G	6: 88,200,036 (GRCm39)	T191A	probably damaging	Het
Ephx2	A	T	14: 66,339,628 (GRCm39)	F199I	probably damaging	Het
Fancd2	A	G	6: 113,551,619 (GRCm39)	K1062E	probably benign	Het
Fbxo33	A	G	12: 59,251,285 (GRCm39)	V410A	probably benign	Het
Gars1	T	G	6: 55,054,565 (GRCm39)		probably null	Het
Git1	A	C	11: 77,390,660 (GRCm39)	D132A	possibly damaging	Het
Gp1ba	C	T	11: 70,532,253 (GRCm39)	P673L	probably damaging	Het
Gucy1a1	T	C	3: 82,002,203 (GRCm39)	T44A	unknown	Het
Hjurp	G	C	1: 88,204,937 (GRCm39)		probably benign	Het
Ifnlr1	A	G	4: 135,428,640 (GRCm39)	K156E	possibly damaging	Het
Klf13	T	C	7: 63,541,371 (GRCm39)	N15S	probably benign	Het
Ldc1	A	G	4: 130,115,417 (GRCm39)	S44P	probably damaging	Het
Map4	C	A	9: 109,867,546 (GRCm39)		probably benign	Het
Mthfr	T	C	4: 148,139,900 (GRCm39)	I623T	possibly damaging	Het
Myo7b	T	A	18: 32,116,997 (GRCm39)	T908S	probably benign	Het
Nbeal2	T	G	9: 110,472,876 (GRCm39)		probably benign	Het
Nwd2	T	G	5: 63,957,757 (GRCm39)	F362L	probably benign	Het
Pcm1	A	T	8: 41,714,057 (GRCm39)	R208W	probably damaging	Het
Pkd2l1	T	C	19: 44,138,909 (GRCm39)	D647G	probably benign	Het
Plbd1	C	T	6: 136,618,145 (GRCm39)	V24M	probably damaging	Het
Polr2a	G	A	11: 69,625,943 (GRCm39)	P1698S	unknown	Het
Prss12	T	C	3: 123,279,153 (GRCm39)	I410T	probably damaging	Het
Ptpre	A	G	7: 135,280,964 (GRCm39)	N565S	probably damaging	Het
Rab44	T	C	17: 29,364,244 (GRCm39)	L606P	unknown	Het
Rbm10	C	T	X: 20,503,903 (GRCm39)		probably benign	Het
Rhd	C	T	4: 134,603,612 (GRCm39)		probably benign	Het
Rspo3	T	A	10: 29,375,917 (GRCm39)		probably benign	Het
Sdccag8	T	A	1: 176,773,710 (GRCm39)	N555K	probably benign	Het
Skint6	T	A	4: 112,722,848 (GRCm39)		probably benign	Het
Slc22a20	G	A	19: 6,036,036 (GRCm39)	P45S	probably damaging	Het
Slc5a2	A	G	7: 127,866,654 (GRCm39)	Y124C	probably damaging	Het
Spats2l	T	C	1: 57,925,043 (GRCm39)	L127P	possibly damaging	Het
Taar8a	T	A	10: 23,952,975 (GRCm39)	I193N	probably benign	Het
Ten1	C	T	11: 116,107,510 (GRCm39)		probably benign	Het
Tfb2m	T	C	1: 179,373,398 (GRCm39)	E100G	probably damaging	Het
Tom1	C	T	8: 75,778,934 (GRCm39)		probably benign	Het
Vps52	G	T	17: 34,178,985 (GRCm39)	R171L	probably damaging	Het
Zcwpw2	A	T	9: 117,843,182 (GRCm39)		noncoding transcript	Het
Zfhx4	G	A	3: 5,468,880 (GRCm39)	E3013K	probably damaging	Het
Zfp267	G	A	3: 36,220,016 (GRCm39)	D680N	possibly damaging	Het
Zfp777	C	T	6: 48,006,294 (GRCm39)	V411M	probably damaging	Het

Other mutations in Krt77

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01060:Krt77	APN	15	101,769,315 (GRCm39)	splice site	probably benign
IGL01912:Krt77	APN	15	101,772,286 (GRCm39)	splice site	probably benign
IGL02505:Krt77	APN	15	101,769,381 (GRCm39)	missense	probably damaging	1.00
IGL02875:Krt77	APN	15	101,777,584 (GRCm39)	missense	probably damaging	1.00
R0266:Krt77	UTSW	15	101,777,813 (GRCm39)	missense	possibly damaging	0.71
R0347:Krt77	UTSW	15	101,768,304 (GRCm39)	missense	unknown
R1528:Krt77	UTSW	15	101,769,523 (GRCm39)	missense	probably damaging	1.00
R1556:Krt77	UTSW	15	101,769,713 (GRCm39)	missense	probably damaging	0.96
R1973:Krt77	UTSW	15	101,769,679 (GRCm39)	missense	probably damaging	1.00
R4434:Krt77	UTSW	15	101,773,904 (GRCm39)	missense	probably damaging	1.00
R4436:Krt77	UTSW	15	101,773,904 (GRCm39)	missense	probably damaging	1.00
R4946:Krt77	UTSW	15	101,777,998 (GRCm39)	missense	unknown
R5405:Krt77	UTSW	15	101,769,523 (GRCm39)	missense	probably damaging	0.96
R5507:Krt77	UTSW	15	101,769,665 (GRCm39)	missense	probably benign	0.03
R5888:Krt77	UTSW	15	101,773,888 (GRCm39)	missense	probably benign	0.29
R5978:Krt77	UTSW	15	101,771,363 (GRCm39)	missense	probably benign	0.07
R5994:Krt77	UTSW	15	101,771,290 (GRCm39)	missense	probably damaging	1.00
R6039:Krt77	UTSW	15	101,769,351 (GRCm39)	missense	possibly damaging	0.85
R6039:Krt77	UTSW	15	101,769,351 (GRCm39)	missense	possibly damaging	0.85
R6241:Krt77	UTSW	15	101,773,988 (GRCm39)	missense	probably damaging	1.00
R6260:Krt77	UTSW	15	101,772,807 (GRCm39)	nonsense	probably null
R6280:Krt77	UTSW	15	101,773,910 (GRCm39)	missense	probably damaging	1.00
R6500:Krt77	UTSW	15	101,772,772 (GRCm39)	missense	probably damaging	0.99
R6563:Krt77	UTSW	15	101,771,358 (GRCm39)	missense	probably damaging	1.00
R7153:Krt77	UTSW	15	101,773,931 (GRCm39)	missense	probably benign	0.18
R7156:Krt77	UTSW	15	101,773,931 (GRCm39)	missense	probably benign	0.18
R7205:Krt77	UTSW	15	101,777,806 (GRCm39)	missense	probably benign	0.00
R7379:Krt77	UTSW	15	101,769,709 (GRCm39)	missense	probably damaging	1.00
R7407:Krt77	UTSW	15	101,768,530 (GRCm39)	missense	unknown
R8297:Krt77	UTSW	15	101,768,407 (GRCm39)	small deletion	probably benign
R9221:Krt77	UTSW	15	101,774,064 (GRCm39)	missense	probably damaging	1.00
R9513:Krt77	UTSW	15	101,769,779 (GRCm39)	missense	probably damaging	1.00
R9516:Krt77	UTSW	15	101,769,779 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

Posted On

2015-02-04