Mutagenetix > Incidental Mutation

Incidental Mutation 'R1591:Krt6a'

175528

Institutional Source

Beutler Lab

Gene Symbol

Krt6a

Ensembl Gene

ENSMUSG00000058354

Gene Name

keratin 6A

Synonyms

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

MMRRC Submission

039628-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.223) question?

Stock #

R1591 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

101689910-101694307 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 101692357 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000023788 (fasta)

Gene Model

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

AlphaFold

P50446

Predicted Effect

probably null
Transcript: ENSMUST00000023788

SMART Domains

Protein: ENSMUSP00000023788
Gene: ENSMUSG00000058354

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.5%
20x: 89.7%

Validation Efficiency

100% (80/80)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abraxas1	G	T	5: 100,809,639 (GRCm38)	Q201K	probably benign	Het
Acacb	A	T	5: 114,203,423 (GRCm38)	I829F	possibly damaging	Het
Acvr1b	G	T	15: 101,194,024 (GRCm38)	V62L	probably benign	Het
Adam6b	A	T	12: 113,489,832 (GRCm38)	I90F	probably benign	Het
Adgrf1	T	C	17: 43,310,981 (GRCm38)	L703P	probably damaging	Het
Arf3	T	C	15: 98,742,788 (GRCm38)		probably benign	Het
Asns	T	C	6: 7,678,007 (GRCm38)	D357G	probably damaging	Het
Atr	T	C	9: 95,945,385 (GRCm38)	M2461T	probably damaging	Het
B3galt4	G	A	17: 33,950,839 (GRCm38)	R142C	probably damaging	Het
Bod1l	T	C	5: 41,819,220 (GRCm38)	I1584V	probably benign	Het
Bub3	T	C	7: 131,561,608 (GRCm38)		probably null	Het
Camkk2	A	G	5: 122,757,558 (GRCm38)		probably null	Het
Cand1	G	T	10: 119,211,869 (GRCm38)	T572K	possibly damaging	Het
Caprin2	A	T	6: 148,873,108 (GRCm38)	S235R	possibly damaging	Het
Cdh24	T	C	14: 54,636,342 (GRCm38)	T452A	probably benign	Het
Cdh4	T	C	2: 179,886,864 (GRCm38)		probably null	Het
Cfap61	A	G	2: 146,145,458 (GRCm38)	R1060G	probably benign	Het
Chd9	A	G	8: 90,983,538 (GRCm38)	D314G	probably damaging	Het
Csmd1	T	A	8: 15,900,710 (GRCm38)	I3500F	probably damaging	Het
Dnah1	G	T	14: 31,272,332 (GRCm38)	Q2858K	probably benign	Het
Dnah6	C	T	6: 73,076,600 (GRCm38)	E2884K	probably benign	Het
Ecm1	G	A	3: 95,735,963 (GRCm38)	R342C	probably damaging	Het
Exosc10	T	A	4: 148,568,383 (GRCm38)	I485N	probably benign	Het
Fap	T	C	2: 62,553,857 (GRCm38)	K2E	probably damaging	Het
Fgfr1	G	A	8: 25,572,720 (GRCm38)	G671D	probably damaging	Het
Fzr1	C	T	10: 81,370,367 (GRCm38)	R162Q	possibly damaging	Het
Gm17727	T	C	9: 35,776,656 (GRCm38)	D96G	probably damaging	Het
Grap2	A	T	15: 80,648,448 (GRCm38)	Y272F	probably damaging	Het
Il11ra1	T	A	4: 41,766,200 (GRCm38)	W246R	probably damaging	Het
Kcna3	A	T	3: 107,037,029 (GRCm38)	I203F	probably damaging	Het
Kcng1	T	C	2: 168,268,710 (GRCm38)	E178G	possibly damaging	Het
Kif19a	A	C	11: 114,789,231 (GRCm38)	H798P	probably benign	Het
Kif21b	T	C	1: 136,149,317 (GRCm38)	L359P	probably damaging	Het
Lman1l	C	T	9: 57,615,802 (GRCm38)	V125I	probably benign	Het
Lrp1	C	T	10: 127,605,606 (GRCm38)	S216N	probably benign	Het
Lrp3	A	G	7: 35,202,365 (GRCm38)	V676A	probably benign	Het
Lrrc63	T	A	14: 75,125,892 (GRCm38)	K266N	possibly damaging	Het
Mccc1	C	T	3: 35,989,857 (GRCm38)	V246M	probably damaging	Het
Mdn1	T	C	4: 32,700,092 (GRCm38)	V1395A	possibly damaging	Het
Mmrn1	A	T	6: 60,944,771 (GRCm38)	R71*	probably null	Het
Mrps2	C	T	2: 28,469,488 (GRCm38)	A119V	probably benign	Het
Ogdh	T	C	11: 6,349,384 (GRCm38)	F750S	probably damaging	Het
Olfr147	A	G	9: 38,402,936 (GRCm38)	T18A	probably damaging	Het
Olfr356	C	A	2: 36,937,978 (GRCm38)	N286K	probably damaging	Het
Olfr484	T	A	7: 108,124,364 (GRCm38)	I300F	possibly damaging	Het
Olfr612	T	G	7: 103,539,067 (GRCm38)	T56P	probably benign	Het
Olfr901	A	T	9: 38,430,411 (GRCm38)	N43I	probably damaging	Het
Osbpl11	A	C	16: 33,209,983 (GRCm38)	I194L	probably benign	Het
Pacsin2	T	C	15: 83,385,051 (GRCm38)	E14G	probably damaging	Het
Pcdh7	A	G	5: 57,720,422 (GRCm38)	T440A	probably damaging	Het
Pcdhb17	T	C	18: 37,485,825 (GRCm38)	S223P	probably damaging	Het
Pik3c2g	G	A	6: 139,748,178 (GRCm38)	R109K	probably benign	Het
Ppp2ca	T	C	11: 52,099,089 (GRCm38)	I14T	possibly damaging	Het
Rdh12	A	T	12: 79,211,504 (GRCm38)	T102S	probably damaging	Het
Rsf1	T	A	7: 97,639,313 (GRCm38)	C132*	probably null	Het
Rufy1	G	A	11: 50,394,928 (GRCm38)	L621F	probably damaging	Het
Ruvbl2	C	T	7: 45,424,711 (GRCm38)	R253H	possibly damaging	Het
Sdf2	A	G	11: 78,254,993 (GRCm38)	E172G	probably damaging	Het
Skint5	C	T	4: 113,999,454 (GRCm38)		probably null	Het
Slc25a27	A	G	17: 43,653,424 (GRCm38)	I185T	probably benign	Het
Slc41a3	A	C	6: 90,633,695 (GRCm38)	K180Q	probably benign	Het
Slc7a14	A	C	3: 31,237,449 (GRCm38)	F227V	probably damaging	Het
Smg1	T	C	7: 118,156,919 (GRCm38)		probably benign	Het
St6galnac1	A	T	11: 116,765,863 (GRCm38)	D483E	probably damaging	Het
Tes	A	G	6: 17,097,442 (GRCm38)	K183R	probably damaging	Het
Tgfbr1	G	T	4: 47,403,471 (GRCm38)	D290Y	probably damaging	Het
Tifab	T	A	13: 56,176,351 (GRCm38)	Y93F	probably benign	Het
Tmem131l	A	G	3: 83,940,889 (GRCm38)		probably null	Het
Tnfrsf21	T	A	17: 43,085,374 (GRCm38)	S516R	probably benign	Het
Ttn	T	C	2: 76,776,045 (GRCm38)	Y18140C	probably damaging	Het
Unc13b	T	A	4: 43,244,747 (GRCm38)	S3692T	probably damaging	Het
Vwa8	C	T	14: 78,908,230 (GRCm38)	R116C	probably damaging	Het
Zfp113	T	C	5: 138,151,197 (GRCm38)		probably benign	Het
Zfp26	T	C	9: 20,437,625 (GRCm38)	T548A	probably benign	Het
Zfp870	C	T	17: 32,884,016 (GRCm38)	G114D	probably damaging	Het

Other mutations in Krt6a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00493:Krt6a	APN	15	101,692,794 (GRCm38)	missense	probably damaging	1.00
IGL00596:Krt6a	APN	15	101,694,230 (GRCm38)	missense	possibly damaging	0.53
PIT4468001:Krt6a	UTSW	15	101,693,917 (GRCm38)	missense	probably damaging	0.98
R0024:Krt6a	UTSW	15	101,690,715 (GRCm38)	splice site	probably benign
R0024:Krt6a	UTSW	15	101,690,715 (GRCm38)	splice site	probably benign
R0811:Krt6a	UTSW	15	101,692,748 (GRCm38)	missense	probably damaging	1.00
R0812:Krt6a	UTSW	15	101,692,748 (GRCm38)	missense	probably damaging	1.00
R0828:Krt6a	UTSW	15	101,693,836 (GRCm38)	missense	probably damaging	0.99
R0924:Krt6a	UTSW	15	101,690,800 (GRCm38)	splice site	probably benign
R1525:Krt6a	UTSW	15	101,694,202 (GRCm38)	missense	probably benign
R1725:Krt6a	UTSW	15	101,692,557 (GRCm38)	missense	probably damaging	1.00
R1962:Krt6a	UTSW	15	101,691,465 (GRCm38)	missense	probably damaging	1.00
R2201:Krt6a	UTSW	15	101,693,171 (GRCm38)	missense	probably benign	0.41
R3024:Krt6a	UTSW	15	101,691,289 (GRCm38)	missense	probably benign	0.02
R3158:Krt6a	UTSW	15	101,691,366 (GRCm38)	missense	probably damaging	1.00
R5369:Krt6a	UTSW	15	101,692,558 (GRCm38)	missense	probably benign	0.06
R5637:Krt6a	UTSW	15	101,692,279 (GRCm38)	missense	probably benign	0.25
R6164:Krt6a	UTSW	15	101,692,573 (GRCm38)	missense	probably damaging	0.99
R6320:Krt6a	UTSW	15	101,692,309 (GRCm38)	missense	probably damaging	0.99
R6562:Krt6a	UTSW	15	101,691,659 (GRCm38)	missense	probably benign	0.36
R7267:Krt6a	UTSW	15	101,693,854 (GRCm38)	missense	probably benign	0.03
R7560:Krt6a	UTSW	15	101,690,559 (GRCm38)	missense	unknown
R7621:Krt6a	UTSW	15	101,691,752 (GRCm38)	missense	possibly damaging	0.92
R7671:Krt6a	UTSW	15	101,690,543 (GRCm38)	missense	unknown
R8017:Krt6a	UTSW	15	101,693,869 (GRCm38)	missense	probably damaging	1.00
R8019:Krt6a	UTSW	15	101,693,869 (GRCm38)	missense	probably damaging	1.00
R8318:Krt6a	UTSW	15	101,694,247 (GRCm38)	start codon destroyed	probably null	0.02
R8508:Krt6a	UTSW	15	101,692,735 (GRCm38)	missense	probably damaging	1.00
R9183:Krt6a	UTSW	15	101,693,011 (GRCm38)	missense	probably benign	0.03
R9652:Krt6a	UTSW	15	101,690,685 (GRCm38)	missense	probably benign	0.35
X0067:Krt6a	UTSW	15	101,693,777 (GRCm38)	missense	possibly damaging	0.83

Predicted Primers

PCR Primer
(F):5'- AGCATGGACCCCATTTATGGCAAC -3'
(R):5'- TGAACTGCAAGCCAAGGCAGAC -3'

Sequencing Primer
(F):5'- TTAGTGGGCCTCCAATACTGAAC -3'
(R):5'- GCCAAGGCAGACAGTCTAAC -3'

Posted On

2014-04-24