Mutagenetix > Incidental Mutation

Incidental Mutation 'R7621:Krt6a'

589164

Institutional Source

Beutler Lab

Gene Symbol

Krt6a

Ensembl Gene

ENSMUSG00000058354

Gene Name

keratin 6A

Synonyms

Krt2-6a, MK6a, Krt2-6c, mK6[a]

MMRRC Submission

045688-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.197) question?

Stock #

R7621 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

101598363-101602740 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 101600187 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 355 (T355K)

Ref Sequence

ENSEMBL: ENSMUSP00000023788 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023788]

AlphaFold

P50446

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023788
AA Change: T355K

PolyPhen 2 Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000023788
Gene: ENSMUSG00000058354
AA Change: T355K

Domain	Start	End	E-Value	Type
Pfam:Keratin_2_head	15	148	4.1e-36	PFAM
Filament	151	464	7.2e-178	SMART
low complexity region	483	551	N/A	INTRINSIC

Meta Mutation Damage Score

0.2900

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (45/45)

MGI Phenotype

PHENOTYPE: Mice homozygous for a targeted null mutation exhibit delayed wound healing. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	T	A	11: 110,051,359 (GRCm39)	K112N	probably benign	Het
Brwd1	A	G	16: 95,866,087 (GRCm39)	S232P	probably damaging	Het
Calm5	A	T	13: 3,904,629 (GRCm39)	M108L	possibly damaging	Het
Ces1g	A	T	8: 94,055,094 (GRCm39)	V201D	probably damaging	Het
Cltc	C	A	11: 86,598,312 (GRCm39)	V1017L	probably benign	Het
Cpt1c	C	T	7: 44,616,516 (GRCm39)	R245Q	probably damaging	Het
Csrnp1	C	A	9: 119,806,158 (GRCm39)	A39S	probably benign	Het
Elf1	A	G	14: 79,808,322 (GRCm39)	D258G	possibly damaging	Het
Entrep1	A	C	19: 23,972,168 (GRCm39)	S179A	possibly damaging	Het
Glipr1l1	A	T	10: 111,896,300 (GRCm39)	D29V	probably benign	Het
Gm4340	T	C	10: 104,031,820 (GRCm39)	V188A	probably benign	Het
Gsdma2	T	C	11: 98,540,375 (GRCm39)	M98T	probably benign	Het
Hars1	A	T	18: 36,903,476 (GRCm39)	D315E	probably benign	Het
Hsph1	A	C	5: 149,555,540 (GRCm39)	Y89D	probably damaging	Het
Ighv11-2	T	A	12: 114,012,008 (GRCm39)	D69V	probably benign	Het
Kirrel1	C	T	3: 86,995,528 (GRCm39)	G438D	possibly damaging	Het
Lce1m	T	C	3: 92,925,177 (GRCm39)		probably null	Het
Lmbrd1	A	T	1: 24,767,625 (GRCm39)		probably null	Het
Lmtk3	A	G	7: 45,442,841 (GRCm39)	E508G	probably damaging	Het
Lrrc2	G	A	9: 110,809,899 (GRCm39)	V312I	probably benign	Het
Lyn	A	T	4: 3,789,834 (GRCm39)	K477*	probably null	Het
Nfe2l2	T	C	2: 75,509,757 (GRCm39)	D21G	probably damaging	Het
Or14c45	G	A	7: 86,176,280 (GRCm39)	C105Y	probably benign	Het
Or4f14d	T	C	2: 111,960,926 (GRCm39)	T77A	probably benign	Het
Or55b3	G	A	7: 102,126,472 (GRCm39)	R202C	possibly damaging	Het
Or8c15	T	C	9: 38,120,447 (GRCm39)	F31L	probably benign	Het
Pgap6	C	A	17: 26,336,865 (GRCm39)	P261Q	probably benign	Het
Pkm	T	A	9: 59,585,441 (GRCm39)	C474*	probably null	Het
Prr36	T	A	8: 4,263,150 (GRCm39)	I839F	unknown	Het
Qtrt2	A	G	16: 43,689,303 (GRCm39)		probably null	Het
Ripk4	A	T	16: 97,547,125 (GRCm39)	V379E	probably damaging	Het
Rreb1	C	A	13: 38,133,042 (GRCm39)	P304Q		Het
Saxo2	A	T	7: 82,297,625 (GRCm39)	C5S	possibly damaging	Het
Scart2	G	A	7: 139,876,742 (GRCm39)	G711D	probably damaging	Het
Sema5a	C	A	15: 32,609,378 (GRCm39)	T428N	possibly damaging	Het
Setd5	C	A	6: 113,121,010 (GRCm39)	P1073Q	possibly damaging	Het
Sh2d5	T	G	4: 137,984,150 (GRCm39)	C173G	probably benign	Het
Slc4a10	T	G	2: 62,080,823 (GRCm39)	V350G	probably damaging	Het
Slco1a6	A	G	6: 142,106,743 (GRCm39)	C15R	probably damaging	Het
Smg7	A	T	1: 152,717,295 (GRCm39)	F940Y	possibly damaging	Het
Spata17	T	A	1: 186,854,833 (GRCm39)		probably null	Het
Specc1	A	G	11: 62,019,210 (GRCm39)	N603S	possibly damaging	Het
Tbc1d1	A	G	5: 64,421,673 (GRCm39)	D355G	probably damaging	Het
Thbs2	T	C	17: 14,894,426 (GRCm39)	D807G	probably benign	Het
Usp53	T	C	3: 122,754,934 (GRCm39)	T174A	probably benign	Het
Vmn2r52	A	G	7: 9,907,274 (GRCm39)	Y151H	probably benign	Het
Wdr12	G	A	1: 60,136,748 (GRCm39)		probably benign	Het

Other mutations in Krt6a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00493:Krt6a	APN	15	101,601,229 (GRCm39)	missense	probably damaging	1.00
IGL00596:Krt6a	APN	15	101,602,665 (GRCm39)	missense	possibly damaging	0.53
PIT4468001:Krt6a	UTSW	15	101,602,352 (GRCm39)	missense	probably damaging	0.98
R0024:Krt6a	UTSW	15	101,599,150 (GRCm39)	splice site	probably benign
R0024:Krt6a	UTSW	15	101,599,150 (GRCm39)	splice site	probably benign
R0811:Krt6a	UTSW	15	101,601,183 (GRCm39)	missense	probably damaging	1.00
R0812:Krt6a	UTSW	15	101,601,183 (GRCm39)	missense	probably damaging	1.00
R0828:Krt6a	UTSW	15	101,602,271 (GRCm39)	missense	probably damaging	0.99
R0924:Krt6a	UTSW	15	101,599,235 (GRCm39)	splice site	probably benign
R1525:Krt6a	UTSW	15	101,602,637 (GRCm39)	missense	probably benign
R1591:Krt6a	UTSW	15	101,600,792 (GRCm39)	splice site	probably null
R1725:Krt6a	UTSW	15	101,600,992 (GRCm39)	missense	probably damaging	1.00
R1962:Krt6a	UTSW	15	101,599,900 (GRCm39)	missense	probably damaging	1.00
R2201:Krt6a	UTSW	15	101,601,606 (GRCm39)	missense	probably benign	0.41
R3024:Krt6a	UTSW	15	101,599,724 (GRCm39)	missense	probably benign	0.02
R3158:Krt6a	UTSW	15	101,599,801 (GRCm39)	missense	probably damaging	1.00
R5369:Krt6a	UTSW	15	101,600,993 (GRCm39)	missense	probably benign	0.06
R5637:Krt6a	UTSW	15	101,600,714 (GRCm39)	missense	probably benign	0.25
R6164:Krt6a	UTSW	15	101,601,008 (GRCm39)	missense	probably damaging	0.99
R6320:Krt6a	UTSW	15	101,600,744 (GRCm39)	missense	probably damaging	0.99
R6562:Krt6a	UTSW	15	101,600,094 (GRCm39)	missense	probably benign	0.36
R7267:Krt6a	UTSW	15	101,602,289 (GRCm39)	missense	probably benign	0.03
R7560:Krt6a	UTSW	15	101,598,994 (GRCm39)	missense	unknown
R7671:Krt6a	UTSW	15	101,598,978 (GRCm39)	missense	unknown
R8017:Krt6a	UTSW	15	101,602,304 (GRCm39)	missense	probably damaging	1.00
R8019:Krt6a	UTSW	15	101,602,304 (GRCm39)	missense	probably damaging	1.00
R8318:Krt6a	UTSW	15	101,602,682 (GRCm39)	start codon destroyed	probably null	0.02
R8508:Krt6a	UTSW	15	101,601,170 (GRCm39)	missense	probably damaging	1.00
R9183:Krt6a	UTSW	15	101,601,446 (GRCm39)	missense	probably benign	0.03
R9652:Krt6a	UTSW	15	101,599,120 (GRCm39)	missense	probably benign	0.35
X0067:Krt6a	UTSW	15	101,602,212 (GRCm39)	missense	possibly damaging	0.83

Predicted Primers

PCR Primer
(F):5'- CGTGGAGTGTACATCTCTGC -3'
(R):5'- AGAACATTTTCACTTCCTGAGGG -3'

Sequencing Primer
(F):5'- AGTGTACATCTCTGCAGAGGC -3'
(R):5'- TTCACTTCCTGAGGGAACTATG -3'

Posted On

2019-10-24