Mutagenetix > Incidental Mutation

Incidental Mutation 'R6500:Krt77'

519697

Institutional Source

Beutler Lab

Gene Symbol

Krt77

Ensembl Gene

ENSMUSG00000067594

Gene Name

keratin 77

Synonyms

4732484G22Rik

MMRRC Submission

044632-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6500 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

101767166-101778140 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 101772772 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 269 (N269S)

Ref Sequence

ENSEMBL: ENSMUSP00000085311 (fasta)

Gene Model

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

AlphaFold

Q6IFZ6

Predicted Effect

probably damaging
Transcript: ENSMUST00000087996
AA Change: N269S

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000085311
Gene: ENSMUSG00000067594
AA Change: N269S

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

Meta Mutation Damage Score

0.2419

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.0%

Validation Efficiency

98% (53/54)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam21	A	G	12: 81,606,380 (GRCm39)	F461L	probably benign	Het
Adamtsl3	C	A	7: 82,227,818 (GRCm39)	H1334Q	probably benign	Het
Adgrf1	A	G	17: 43,621,263 (GRCm39)	N500S	probably damaging	Het
Afdn	A	G	17: 14,042,634 (GRCm39)	D335G	possibly damaging	Het
Arhgap19	G	A	19: 41,775,077 (GRCm39)	T178M	probably damaging	Het
Chac2	T	C	11: 30,927,625 (GRCm39)	D86G	probably damaging	Het
Clhc1	T	C	11: 29,510,542 (GRCm39)	S209P	possibly damaging	Het
Col1a2	G	A	6: 4,515,517 (GRCm39)	G127S	unknown	Het
Coro2b	A	G	9: 62,396,606 (GRCm39)	F51L	probably benign	Het
Cux2	A	G	5: 122,002,789 (GRCm39)	S1139P	probably benign	Het
Cyth3	A	T	5: 143,693,595 (GRCm39)	I379F	probably damaging	Het
Dock2	A	T	11: 34,312,822 (GRCm39)	L240H	possibly damaging	Het
Ercc6	A	G	14: 32,248,780 (GRCm39)	K444E	probably damaging	Het
Fam3b	A	G	16: 97,302,101 (GRCm39)	L52P	possibly damaging	Het
Fat4	T	G	3: 39,035,418 (GRCm39)	Y3023*	probably null	Het
Gad1	A	T	2: 70,423,780 (GRCm39)	N396Y	probably damaging	Het
Gbp2b	A	G	3: 142,317,252 (GRCm39)	E536G	probably benign	Het
Gm11564	G	A	11: 99,706,061 (GRCm39)	T123I	unknown	Het
Herc2	G	T	7: 55,796,393 (GRCm39)	E1922*	probably null	Het
Hrh4	G	T	18: 13,155,525 (GRCm39)	V355F	probably damaging	Het
Isyna1	A	G	8: 71,047,339 (GRCm39)	I21V	probably damaging	Het
Jak1	T	C	4: 101,039,130 (GRCm39)	D165G	probably benign	Het
Klhl38	C	A	15: 58,185,809 (GRCm39)	G307*	probably null	Het
Lrp4	T	A	2: 91,322,765 (GRCm39)	I1118N	possibly damaging	Het
Ly6i	T	C	15: 74,853,833 (GRCm39)	Y30C	probably damaging	Het
Magi2	A	G	5: 20,807,345 (GRCm39)	E620G	possibly damaging	Het
Mbl2	A	G	19: 30,216,839 (GRCm39)	D217G	possibly damaging	Het
Mogat2	T	A	7: 98,871,553 (GRCm39)	I253F	probably benign	Het
Mpped2	T	C	2: 106,691,925 (GRCm39)	L210P	probably damaging	Het
Nav3	C	A	10: 109,600,617 (GRCm39)	A1337S	probably damaging	Het
Ncaph2	T	A	15: 89,248,407 (GRCm39)	V206E	probably benign	Het
Nlgn1	T	C	3: 25,488,094 (GRCm39)	E747G	possibly damaging	Het
Nlrc3	C	T	16: 3,770,308 (GRCm39)	G237D	possibly damaging	Het
Nsun7	A	G	5: 66,452,827 (GRCm39)	D514G	probably benign	Het
Or10al5	C	G	17: 38,063,577 (GRCm39)	D277E	probably damaging	Het
Pals2	A	G	6: 50,175,146 (GRCm39)	K500E	possibly damaging	Het
Pcnx2	C	A	8: 126,480,224 (GRCm39)	V2028F	probably damaging	Het
Pdx1	G	T	5: 147,207,440 (GRCm39)	W131L	probably damaging	Het
Pkdrej	C	T	15: 85,703,747 (GRCm39)	V730I	probably damaging	Het
Plcg1	T	A	2: 160,596,487 (GRCm39)	Y669N	probably damaging	Het
Plpp1	G	T	13: 113,003,454 (GRCm39)	W226L	probably damaging	Het
Sfxn1	G	A	13: 54,242,918 (GRCm39)	V59I	probably benign	Het
Shank1	T	C	7: 43,976,645 (GRCm39)	I581T	unknown	Het
Slc35f6	A	C	5: 30,814,164 (GRCm39)	K150N	possibly damaging	Het
Slc5a7	A	T	17: 54,591,231 (GRCm39)	S234T	probably benign	Het
Smg6	C	T	11: 74,821,331 (GRCm39)	T534I	possibly damaging	Het
Ush2a	C	T	1: 188,573,724 (GRCm39)	T3649I	probably benign	Het
Vmn1r158	T	C	7: 22,490,078 (GRCm39)	T44A	possibly damaging	Het
Vmn1r217	A	T	13: 23,298,073 (GRCm39)	Y276*	probably null	Het
Vmn2r100	T	A	17: 19,742,355 (GRCm39)	I243N	probably damaging	Het
Vwde	T	C	6: 13,208,404 (GRCm39)		probably null	Het
Washc4	C	A	10: 83,394,687 (GRCm39)	P306T	probably damaging	Het
Wdhd1	C	T	14: 47,488,217 (GRCm39)		probably null	Het
Xpo6	T	C	7: 125,770,262 (GRCm39)		probably benign	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
R0762:Krt77	UTSW	15	101,769,561 (GRCm39)	splice site	probably null
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
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

PCR Primer
(F):5'- CTAGAGCCACTGTTGTATGGG -3'
(R):5'- ATTCATCTGCCAGAGCACCAG -3'

Sequencing Primer
(F):5'- CCACTGTTGTATGGGCCTGAC -3'
(R):5'- CAGAGCACCAGGCCCTG -3'

Posted On

2018-06-06