Mutagenetix > Incidental Mutation

Incidental Mutation 'R6916:Krt79'

539376

Institutional Source

Beutler Lab

Gene Symbol

Krt79

Ensembl Gene

ENSMUSG00000061397

Gene Name

keratin 79

Synonyms

MMRRC Submission

045037-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6916 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

101837767-101848759 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 101844605 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 260 (D260N)

Ref Sequence

ENSEMBL: ENSMUSP00000023799 (fasta)

Gene Model

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

AlphaFold

Q8VED5

Predicted Effect

probably benign
Transcript: ENSMUST00000023799
AA Change: D260N

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000023799
Gene: ENSMUSG00000061397
AA Change: D260N

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

Meta Mutation Damage Score

0.2936

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

98% (59/60)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	A	12: 71,211,318 (GRCm39)	I684K	possibly damaging	Het
Abcg3	T	A	5: 105,122,601 (GRCm39)	R97S	probably benign	Het
Acin1	A	T	14: 54,902,873 (GRCm39)	F160L	probably benign	Het
Aoc1l2	T	A	6: 48,907,987 (GRCm39)	I329N	probably benign	Het
Asb10	T	C	5: 24,742,854 (GRCm39)	D293G	probably damaging	Het
Atp6v1c1	T	C	15: 38,677,825 (GRCm39)	S117P	probably benign	Het
Bahcc1	T	A	11: 120,163,835 (GRCm39)	V711E	probably damaging	Het
Baz2b	A	T	2: 59,799,120 (GRCm39)	S335T	probably benign	Het
Bdkrb2	C	T	12: 105,558,038 (GRCm39)	A93V	probably damaging	Het
Cacna1d	A	T	14: 29,817,321 (GRCm39)	V1247D	probably damaging	Het
Cenpb	A	C	2: 131,021,544 (GRCm39)	F85V	probably benign	Het
Cep112	C	A	11: 108,750,202 (GRCm39)	Q142K	probably damaging	Het
Ciita	T	A	16: 10,327,071 (GRCm39)		probably null	Het
Cnr1	A	G	4: 33,943,897 (GRCm39)	D95G	probably benign	Het
Ctnnd1	A	T	2: 84,439,990 (GRCm39)	D767E	probably benign	Het
Ddx20	T	C	3: 105,587,929 (GRCm39)	N384D	probably damaging	Het
Dnaaf3	T	A	7: 4,530,532 (GRCm39)	D191V	probably damaging	Het
Efna1	T	C	3: 89,183,695 (GRCm39)	N44D	possibly damaging	Het
Errfi1	A	T	4: 150,951,930 (GRCm39)	K453*	probably null	Het
Fam149a	C	A	8: 45,803,443 (GRCm39)	K349N	probably damaging	Het
Fbxl20	T	A	11: 98,004,079 (GRCm39)	I70L	possibly damaging	Het
Flnb	C	T	14: 7,907,171 (GRCm38)	T1248I	probably damaging	Het
Frem2	T	C	3: 53,455,109 (GRCm39)	R2156G	probably damaging	Het
Ftl1	T	C	7: 45,108,964 (GRCm39)	Y31C	probably damaging	Het
Gm5862	G	T	5: 26,224,346 (GRCm39)	H208N	probably benign	Het
Hc	A	T	2: 34,900,044 (GRCm39)	Y1096*	probably null	Het
Hps1	ATCCTCCTCCTCCTCCTCCTCCTC	ATCCTCCTCCTCCTCCTCCTC	19: 42,755,164 (GRCm39)			Het
Ints3	T	C	3: 90,313,641 (GRCm39)	D329G	probably damaging	Het
Irak3	A	T	10: 120,037,270 (GRCm39)	L32Q	probably damaging	Het
Kifbp	T	C	10: 62,401,843 (GRCm39)	T20A	probably benign	Het
Klrb1f	A	T	6: 129,030,774 (GRCm39)	D95V	probably benign	Het
Lrp11	C	A	10: 7,484,478 (GRCm39)		probably null	Het
Lrrc10	C	A	10: 116,881,454 (GRCm39)	R43S	possibly damaging	Het
Muc5b	A	T	7: 141,418,454 (GRCm39)	Y3800F	possibly damaging	Het
Myh14	T	C	7: 44,278,737 (GRCm39)	K1003E	probably damaging	Het
Nbeal2	A	G	9: 110,455,176 (GRCm39)	I2567T	probably damaging	Het
Necab2	G	T	8: 120,194,355 (GRCm39)	R277L	probably damaging	Het
Nell1	T	C	7: 50,350,927 (GRCm39)	Y525H	probably benign	Het
Olfm4	T	A	14: 80,251,638 (GRCm39)	M186K	probably damaging	Het
Or10d1c	T	C	9: 38,894,200 (GRCm39)	I47V	probably benign	Het
Or1e29	T	A	11: 73,667,895 (GRCm39)	Q86L	probably benign	Het
Or2h2b-ps1	T	C	17: 37,480,864 (GRCm39)	K225R	probably benign	Het
Pcdhb11	A	T	18: 37,555,434 (GRCm39)	S255C	possibly damaging	Het
Rrbp1	A	T	2: 143,816,518 (GRCm39)	C704S	probably benign	Het
Rsrc1	C	T	3: 66,901,982 (GRCm39)	P44L	unknown	Het
Sh2d3c	C	T	2: 32,642,665 (GRCm39)	R552*	probably null	Het
Sh3d19	A	G	3: 85,992,218 (GRCm39)	E82G	probably benign	Het
Son	T	A	16: 91,451,673 (GRCm39)	L140Q	probably damaging	Het
Svil	G	A	18: 5,114,682 (GRCm39)		probably benign	Het
Syne1	T	C	10: 5,177,912 (GRCm39)	K4854R	probably benign	Het
Tlcd4	T	C	3: 121,000,805 (GRCm39)	D276G	possibly damaging	Het
Tmem202	C	A	9: 59,432,757 (GRCm39)		probably benign	Het
Trak2	T	C	1: 58,949,184 (GRCm39)	T539A	probably benign	Het
Trdn	T	C	10: 33,033,014 (GRCm39)	S80P	probably damaging	Het
Ugt2b37	T	A	5: 87,402,459 (GRCm39)	R57S	probably benign	Het
Usp34	G	A	11: 23,408,023 (GRCm39)	R2616Q	probably damaging	Het
Usp48	T	C	4: 137,365,544 (GRCm39)	Y113H	probably damaging	Het
Vtcn1	G	T	3: 100,795,479 (GRCm39)		probably null	Het
Wdr19	G	A	5: 65,382,677 (GRCm39)	R467Q	possibly damaging	Het
Wdr72	A	G	9: 74,062,321 (GRCm39)	Y489C	probably benign	Het
Wipf1	C	A	2: 73,267,748 (GRCm39)	G217W	probably damaging	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
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
R8206:Krt79	UTSW	15	101,848,705 (GRCm39)	start gained	probably null
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'- GTAGGCTCCAAACTTTTACCAGTC -3'
(R):5'- AGAACTCACCTAAGCCTTCCTTG -3'

Sequencing Primer
(F):5'- CAGTCAAGTAACACTGGTGAGTTCAC -3'
(R):5'- AAGCCTTCCTTGTGTTACAGG -3'

Posted On

2018-11-06