Mutagenetix > Incidental Mutation

Incidental Mutation 'R6164:Krt6a'

490071

Institutional Source

Beutler Lab

Gene Symbol

Krt6a

Ensembl Gene

ENSMUSG00000058354

Gene Name

keratin 6A

Synonyms

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

MMRRC Submission

044310-MU

Accession Numbers

Essential gene?

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

Stock #

R6164 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

101598363-101602740 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 101601008 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 263 (V263I)

Ref Sequence

ENSEMBL: ENSMUSP00000023788 (fasta)

Gene Model

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

AlphaFold

P50446

Predicted Effect

probably damaging
Transcript: ENSMUST00000023788
AA Change: V263I

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000023788
Gene: ENSMUSG00000058354
AA Change: V263I

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196874

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229164

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230205

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.3%

Validation Efficiency

98% (61/62)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anpep	A	G	7: 79,491,953 (GRCm39)	I16T	possibly damaging	Het
Ap1s1	T	C	5: 137,066,240 (GRCm39)		probably benign	Het
Atp1a2	T	C	1: 172,106,459 (GRCm39)	S848G	probably damaging	Het
Bche	T	A	3: 73,608,389 (GRCm39)	I346F	possibly damaging	Het
Ccdc148	T	A	2: 58,713,645 (GRCm39)	Y502F	probably damaging	Het
Ccdc88c	T	C	12: 100,919,642 (GRCm39)	M416V	probably damaging	Het
Cdk17	T	C	10: 93,071,331 (GRCm39)	S351P	probably benign	Het
Cfap100	T	C	6: 90,392,768 (GRCm39)	E114G	probably benign	Het
Clec4a4	T	C	6: 122,968,833 (GRCm39)	I66T	possibly damaging	Het
Cpeb4	T	C	11: 31,870,584 (GRCm39)		probably null	Het
Cybrd1	T	C	2: 70,948,618 (GRCm39)	V52A	probably damaging	Het
Decr1	G	A	4: 15,924,347 (GRCm39)	A191V	probably benign	Het
Dnah5	A	T	15: 28,378,489 (GRCm39)	I2942L	probably benign	Het
Ehd4	C	T	2: 119,932,689 (GRCm39)	V246I	possibly damaging	Het
Ercc6l2	A	G	13: 64,020,158 (GRCm39)		probably benign	Het
Exoc4	T	A	6: 33,309,218 (GRCm39)	M280K	probably damaging	Het
Fmo1	T	G	1: 162,678,979 (GRCm39)	E89A	probably benign	Het
Foxm1	A	G	6: 128,350,898 (GRCm39)	D733G	probably benign	Het
Garin5b	T	C	7: 4,773,677 (GRCm39)	T73A	probably damaging	Het
Gulp1	A	C	1: 44,793,511 (GRCm39)	R57S	probably damaging	Het
Hdac1-ps	T	C	17: 78,799,716 (GRCm39)	S236P	probably damaging	Het
Hdac4	G	T	1: 91,957,876 (GRCm39)	A46E	probably benign	Het
Hspg2	T	C	4: 137,241,966 (GRCm39)	S567P	possibly damaging	Het
Insyn1	C	A	9: 58,406,530 (GRCm39)	P147T	probably damaging	Het
Iqgap1	A	C	7: 80,458,854 (GRCm39)	C21W	unknown	Het
Isoc2a	T	C	7: 4,894,488 (GRCm39)	L57P	probably damaging	Het
Krt34	G	A	11: 99,929,272 (GRCm39)	Q313*	probably null	Het
Man2a1	A	G	17: 65,040,719 (GRCm39)	I106V	possibly damaging	Het
Muc16	T	C	9: 18,469,675 (GRCm39)	D7300G	probably damaging	Het
Muc5b	A	T	7: 141,417,082 (GRCm39)	S3343C	possibly damaging	Het
Mup11	C	T	4: 60,618,239 (GRCm39)	E21K	possibly damaging	Het
Myo3b	T	A	2: 70,075,754 (GRCm39)		probably null	Het
Nlrp4c	T	C	7: 6,095,507 (GRCm39)	L795P	probably damaging	Het
Nup160	T	A	2: 90,548,220 (GRCm39)	Y984*	probably null	Het
Nwd1	C	T	8: 73,388,814 (GRCm39)	R81W	probably damaging	Het
Or2d3	G	T	7: 106,491,135 (GRCm39)	Y60*	probably null	Het
Or5p52	A	G	7: 107,502,595 (GRCm39)	T224A	probably benign	Het
Osmr	A	G	15: 6,889,833 (GRCm39)	V5A	probably benign	Het
Pabir1	T	A	19: 24,454,450 (GRCm39)	M91L	probably benign	Het
Pcsk5	A	G	19: 17,814,317 (GRCm39)		probably null	Het
Pex11a	G	A	7: 79,387,127 (GRCm39)	T235M	probably damaging	Het
Pik3r6	A	G	11: 68,442,799 (GRCm39)	T730A	probably benign	Het
Ppp1r9a	C	T	6: 5,110,715 (GRCm39)		probably benign	Het
Ppp2r2d	T	C	7: 138,474,742 (GRCm39)	I41T	probably damaging	Het
Prdm1	C	T	10: 44,326,191 (GRCm39)	R126H	probably damaging	Het
Primpol	C	T	8: 47,039,477 (GRCm39)	R381H	probably benign	Het
Prl7a1	C	A	13: 27,821,626 (GRCm39)	Q102H	probably benign	Het
Rbpjl	T	C	2: 164,252,799 (GRCm39)	L284P	probably damaging	Het
Rgs21	A	T	1: 144,417,035 (GRCm39)	C6S	probably benign	Het
Rnasel	T	C	1: 153,630,138 (GRCm39)	V218A	probably benign	Het
Sag	G	T	1: 87,752,175 (GRCm39)	V223L	probably damaging	Het
Sdk1	C	T	5: 142,117,824 (GRCm39)	T1574M	probably damaging	Het
Secisbp2	G	A	13: 51,833,896 (GRCm39)	V679M	probably damaging	Het
Sele	T	A	1: 163,879,386 (GRCm39)		probably null	Het
Senp7	T	A	16: 55,990,117 (GRCm39)	L622M	probably damaging	Het
Sgo1	G	A	17: 53,983,981 (GRCm39)	R466C	probably damaging	Het
Sh3tc1	C	A	5: 35,863,590 (GRCm39)	V866L	probably benign	Het
Snrnp25	T	A	11: 32,157,647 (GRCm39)	V75D	probably benign	Het
Syne1	C	T	10: 5,011,429 (GRCm39)	C7899Y	probably damaging	Het
U2af1l4	T	C	7: 30,264,007 (GRCm39)	S55P	probably damaging	Het
Vmn1r23	A	G	6: 57,903,040 (GRCm39)	I246T	possibly damaging	Het
Vmn1r66	T	A	7: 10,008,329 (GRCm39)	R235*	probably null	Het
Wnk4	C	T	11: 101,165,894 (GRCm39)	A807V	possibly damaging	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
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
R7621:Krt6a	UTSW	15	101,600,187 (GRCm39)	missense	possibly damaging	0.92
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'- AGACAGTTCCTGCAGGACAG -3'
(R):5'- ACCCTGAAGAAGGTGAGTTG -3'

Sequencing Primer
(F):5'- CAGAAAGAGCCATGGTCATCTTTGTC -3'
(R):5'- GACTAACCACAAGGATGGGTTTCTC -3'

Posted On

2017-10-10