Mutagenetix > Incidental Mutation

Incidental Mutation 'R8206:Krt79'

635937

Institutional Source

Beutler Lab

Gene Symbol

Krt79

Ensembl Gene

ENSMUSG00000061397

Gene Name

keratin 79

Synonyms

MMRRC Submission

067629-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8206 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

101837767-101848759 bp(-) (GRCm39)

Type of Mutation

start gained

DNA Base Change (assembly)

T to A at 101848705 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000023799 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023799]

AlphaFold

Q8VED5

Predicted Effect

probably null
Transcript: ENSMUST00000023799

SMART Domains

Protein: ENSMUSP00000023799
Gene: ENSMUSG00000061397

Domain	Start	End	E-Value	Type
Pfam:Keratin_2_head	15	98	6.6e-11	PFAM
Pfam:Keratin_2_head	73	135	1.2e-21	PFAM
Filament	138	452	7.12e-159	SMART
low complexity region	474	500	N/A	INTRINSIC
low complexity region	519	530	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (50/50)

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 skeletal muscle, skin and scalp. 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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ano4	A	G	10: 88,860,958 (GRCm39)	Y342H	probably damaging	Het
Aqp4	T	A	18: 15,526,716 (GRCm39)	D255V	possibly damaging	Het
Arhgap26	C	A	18: 39,439,803 (GRCm39)	S247*	probably null	Het
Arid4a	A	G	12: 71,133,361 (GRCm39)	D1154G	probably damaging	Het
Atpaf2	A	G	11: 60,295,304 (GRCm39)	I182T	probably damaging	Het
Cacna1i	C	A	15: 80,274,016 (GRCm39)		probably null	Het
Ccdc38	A	G	10: 93,399,146 (GRCm39)	S205G	probably damaging	Het
Cep63	A	G	9: 102,498,470 (GRCm39)		probably benign	Het
Cripto	G	A	9: 110,773,352 (GRCm39)		probably benign	Het
Cyp24a1	T	C	2: 170,333,589 (GRCm39)	T255A	possibly damaging	Het
Dlg5	A	G	14: 24,210,336 (GRCm39)	S787P	possibly damaging	Het
Dnah6	A	T	6: 73,014,549 (GRCm39)	C3679*	probably null	Het
Dpy19l3	T	C	7: 35,429,155 (GRCm39)	Y95C	probably damaging	Het
Erc2	G	A	14: 28,024,972 (GRCm39)		probably null	Het
Ezh2	A	T	6: 47,509,834 (GRCm39)		probably null	Het
Fgfr1	A	G	8: 26,060,258 (GRCm39)	T463A	probably damaging	Het
Flvcr2	GTAGTGTATA	GTA	12: 85,849,922 (GRCm39)		probably null	Het
Fsip2	T	C	2: 82,820,808 (GRCm39)	S5514P	possibly damaging	Het
Glrb	A	G	3: 80,758,373 (GRCm39)	Y347H	probably damaging	Het
Gm14325	C	A	2: 177,474,767 (GRCm39)	C105F	probably damaging	Het
Hgsnat	T	C	8: 26,444,665 (GRCm39)	T428A	probably damaging	Het
Ighv1-76	T	C	12: 115,811,934 (GRCm39)	M1V	probably null	Het
Inppl1	A	G	7: 101,472,783 (GRCm39)	I1207T	possibly damaging	Het
Kmt2c	T	A	5: 25,519,537 (GRCm39)	Q2191L	probably damaging	Het
Mast4	G	A	13: 102,872,247 (GRCm39)	L2374F	probably damaging	Het
Mgam	A	G	6: 40,657,169 (GRCm39)	N951S	probably benign	Het
Myl10	G	C	5: 136,726,825 (GRCm39)	V70L	probably benign	Het
Naip6	A	T	13: 100,431,344 (GRCm39)	C1164*	probably null	Het
Nfatc2ip	G	T	7: 125,989,906 (GRCm39)	D189E	probably damaging	Het
Nrp1	A	G	8: 129,184,438 (GRCm39)	D361G	probably damaging	Het
Nrp2	T	C	1: 62,786,374 (GRCm39)	I293T	probably damaging	Het
Pate5	A	T	9: 35,750,719 (GRCm39)	F34L	possibly damaging	Het
Pde3a	T	C	6: 141,433,611 (GRCm39)	V831A	probably damaging	Het
Pirb	A	G	7: 3,715,905 (GRCm39)		probably null	Het
Plch1	G	T	3: 63,610,047 (GRCm39)		probably null	Het
Plekhh2	A	G	17: 84,898,277 (GRCm39)	T973A	possibly damaging	Het
Ppp1r35	T	A	5: 137,778,296 (GRCm39)	I97K	unknown	Het
Ppp1r3c	C	T	19: 36,710,846 (GRCm39)	G308E	probably benign	Het
Prss12	G	A	3: 123,258,611 (GRCm39)		probably null	Het
Rad51b	A	G	12: 79,361,715 (GRCm39)	D142G	probably damaging	Het
Slc13a3	C	T	2: 165,248,745 (GRCm39)	G553D	probably damaging	Het
Spata31d1d	A	C	13: 59,879,344 (GRCm39)	V64G	probably benign	Het
Srp68	G	A	11: 116,164,809 (GRCm39)	R42C	probably damaging	Het
Syne2	T	C	12: 76,062,365 (GRCm39)	V4229A	probably benign	Het
Tas2r144	G	A	6: 42,192,325 (GRCm39)	V22M	probably damaging	Het
Tcf7l1	A	G	6: 72,604,395 (GRCm39)	L583P	probably damaging	Het
Tdrd3	A	G	14: 87,749,214 (GRCm39)	D708G	probably benign	Het
Tns4	A	T	11: 98,976,627 (GRCm39)	L98Q	probably damaging	Het
Zfp677	T	A	17: 21,612,717 (GRCm39)		probably null	Het

Other mutations in Krt79

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00516:Krt79	APN	15	101,848,601 (GRCm39)	missense	probably damaging	0.98
IGL00546:Krt79	APN	15	101,838,308 (GRCm39)	missense	probably benign	0.00
IGL01595:Krt79	APN	15	101,840,206 (GRCm39)	missense	probably damaging	0.98
IGL02193:Krt79	APN	15	101,848,340 (GRCm39)	missense	possibly damaging	0.59
R0639:Krt79	UTSW	15	101,839,983 (GRCm39)	nonsense	probably null
R0980:Krt79	UTSW	15	101,846,442 (GRCm39)	missense	probably damaging	1.00
R1839:Krt79	UTSW	15	101,846,373 (GRCm39)	missense	possibly damaging	0.81
R4624:Krt79	UTSW	15	101,848,241 (GRCm39)	missense	possibly damaging	0.92
R4745:Krt79	UTSW	15	101,839,119 (GRCm39)	missense	probably damaging	1.00
R5203:Krt79	UTSW	15	101,838,175 (GRCm39)	missense	unknown
R5382:Krt79	UTSW	15	101,839,875 (GRCm39)	missense	probably benign	0.09
R5568:Krt79	UTSW	15	101,838,220 (GRCm39)	missense	probably damaging	0.99
R6902:Krt79	UTSW	15	101,840,314 (GRCm39)	missense	probably benign	0.08
R6916:Krt79	UTSW	15	101,844,605 (GRCm39)	missense	probably benign	0.01
R6998:Krt79	UTSW	15	101,846,307 (GRCm39)	missense	probably benign
R7009:Krt79	UTSW	15	101,839,876 (GRCm39)	missense	probably damaging	1.00
R7663:Krt79	UTSW	15	101,840,278 (GRCm39)	missense	probably damaging	0.97
R8161:Krt79	UTSW	15	101,839,137 (GRCm39)	missense	probably damaging	0.96
R8184:Krt79	UTSW	15	101,838,187 (GRCm39)	missense	unknown
R8705:Krt79	UTSW	15	101,846,441 (GRCm39)	missense	probably damaging	1.00
R8993:Krt79	UTSW	15	101,839,441 (GRCm39)	intron	probably benign
R9055:Krt79	UTSW	15	101,839,922 (GRCm39)	missense	probably damaging	1.00
R9322:Krt79	UTSW	15	101,840,245 (GRCm39)	missense	possibly damaging	0.92
R9456:Krt79	UTSW	15	101,839,904 (GRCm39)	missense	probably benign	0.02
R9495:Krt79	UTSW	15	101,840,288 (GRCm39)	missense	probably damaging	1.00
R9514:Krt79	UTSW	15	101,840,288 (GRCm39)	missense	probably damaging	1.00
R9533:Krt79	UTSW	15	101,848,417 (GRCm39)	missense	possibly damaging	0.55
R9560:Krt79	UTSW	15	101,846,277 (GRCm39)	missense	probably damaging	0.99
R9705:Krt79	UTSW	15	101,839,196 (GRCm39)	missense	probably benign
R9706:Krt79	UTSW	15	101,839,196 (GRCm39)	missense	probably benign
R9707:Krt79	UTSW	15	101,839,196 (GRCm39)	missense	probably benign
R9714:Krt79	UTSW	15	101,839,196 (GRCm39)	missense	probably benign
R9750:Krt79	UTSW	15	101,839,196 (GRCm39)	missense	probably benign
R9751:Krt79	UTSW	15	101,839,196 (GRCm39)	missense	probably benign
R9753:Krt79	UTSW	15	101,839,196 (GRCm39)	missense	probably benign
R9772:Krt79	UTSW	15	101,839,196 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CTTGCCTCCCAAGTTGTAGAGG -3'
(R):5'- AGCACTTCAGTCTCAGTGATG -3'

Sequencing Primer
(F):5'- TCCCAAGTTGTAGAGGCTCCG -3'
(R):5'- GGTAATCACAGCTGGAGT -3'

Posted On

2020-07-13