Mutagenetix > Incidental Mutation

Incidental Mutation 'R2166:Krt6b'

235510

Institutional Source

Beutler Lab

Gene Symbol

Krt6b

Ensembl Gene

ENSMUSG00000023041

Gene Name

keratin 6B

Synonyms

Krt2-6b, mK6[b]

MMRRC Submission

040169-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.151) question?

Stock #

R2166 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

101676023-101680287 bp(-) (GRCm38)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to C at 101678615 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000023786 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023786]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000023786

SMART Domains

Protein: ENSMUSP00000023786
Gene: ENSMUSG00000023041

Domain	Start	End	E-Value	Type
Pfam:Keratin_2_head	15	148	1.3e-36	PFAM
Filament	151	464	2.79e-175	SMART
low complexity region	483	537	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198940

Meta Mutation Damage Score

0.9475

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.5%
20x: 95.7%

Validation Efficiency

100% (42/42)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	A	T	13: 81,568,643	F779I	probably damaging	Het
Arsi	G	A	18: 60,916,651	G202E	probably benign	Het
Birc6	A	T	17: 74,635,795	T2761S	probably benign	Het
Cav1	A	T	6: 17,339,431	I141F	possibly damaging	Het
Gm973	A	G	1: 59,526,739	D39G	possibly damaging	Het
Gpr1	A	G	1: 63,183,948	F43L	probably benign	Het
Gucy1a2	T	A	9: 3,579,513		probably null	Het
Il1b	A	T	2: 129,365,048	M264K	probably damaging	Het
Itpr1	A	G	6: 108,388,225	Y38C	probably damaging	Het
Kcnb2	A	C	1: 15,711,316	D804A	possibly damaging	Het
Kcnt1	T	A	2: 25,891,183		probably benign	Het
Mef2a	A	G	7: 67,266,122	V144A	probably damaging	Het
Mroh3	A	G	1: 136,186,053	M666T	probably benign	Het
Mslnl	G	A	17: 25,742,934	V128M	probably damaging	Het
Nalcn	T	A	14: 123,369,951	Y702F	probably benign	Het
Napepld	T	A	5: 21,683,232	K73I	possibly damaging	Het
Olfr191	T	A	16: 59,085,586	K299I	probably benign	Het
Olfr935	G	A	9: 38,995,217	Q73*	probably null	Het
Pappa	A	C	4: 65,156,445	D412A	probably damaging	Het
Plbd1	A	G	6: 136,613,790		probably null	Het
Ppp1r10	G	T	17: 35,930,589	R752L	unknown	Het
Prep	T	C	10: 45,092,655		probably benign	Het
Ptch1	T	G	13: 63,524,959	E944A	probably benign	Het
Ptprz1	A	G	6: 23,045,633	N2134S	possibly damaging	Het
Rhbdl3	A	G	11: 80,319,697	Y92C	probably damaging	Het
Rtkn2	T	C	10: 68,041,696	S532P	possibly damaging	Het
Rtl1	T	A	12: 109,590,554	H1617L	probably damaging	Het
Skint6	T	A	4: 112,854,452	N956I	probably benign	Het
Slc13a2	A	G	11: 78,403,075	V287A	probably benign	Het
Slc9a2	A	G	1: 40,742,768	K386E	probably damaging	Het
Spata20	G	A	11: 94,479,104	H789Y	probably benign	Het
Stk19	A	G	17: 34,832,510	I23T	possibly damaging	Het
Tonsl	A	G	15: 76,637,313	I293T	probably benign	Het
Topbp1	A	G	9: 103,312,929		probably null	Het
Trappc2l	T	A	8: 122,613,162	S44T	probably benign	Het
Tsr1	A	G	11: 74,907,454		probably null	Het
Ugdh	A	G	5: 65,417,014		probably benign	Het
Unc119	A	G	11: 78,347,335		probably null	Het
Zkscan14	G	A	5: 145,196,134	P196S	probably benign	Het
Zmat4	T	C	8: 23,902,136	L36P	probably damaging	Het

Other mutations in Krt6b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00327:Krt6b	APN	15	101679832	missense	probably benign	0.22
IGL01653:Krt6b	APN	15	101679114	missense	probably damaging	1.00
IGL01900:Krt6b	APN	15	101677546	missense	possibly damaging	0.45
IGL03187:Krt6b	APN	15	101679957	missense	probably benign
R0511:Krt6b	UTSW	15	101677607	splice site	probably benign
R0788:Krt6b	UTSW	15	101677519	missense	probably damaging	0.96
R1370:Krt6b	UTSW	15	101677552	missense	probably damaging	0.96
R1481:Krt6b	UTSW	15	101678374	missense	probably benign	0.05
R2007:Krt6b	UTSW	15	101678127	missense	probably damaging	1.00
R2112:Krt6b	UTSW	15	101678564	missense	possibly damaging	0.48
R2227:Krt6b	UTSW	15	101679122	missense	probably damaging	0.96
R2495:Krt6b	UTSW	15	101678322	missense	probably damaging	1.00
R2496:Krt6b	UTSW	15	101679781	missense	probably damaging	1.00
R4726:Krt6b	UTSW	15	101678085	missense	probably damaging	0.98
R4969:Krt6b	UTSW	15	101680025	missense	possibly damaging	0.71
R6301:Krt6b	UTSW	15	101678951	missense	probably damaging	1.00
R6646:Krt6b	UTSW	15	101677214	missense	probably damaging	0.98
R7232:Krt6b	UTSW	15	101678142	missense	probably damaging	1.00
R7406:Krt6b	UTSW	15	101679078	missense	probably benign	0.04
R7414:Krt6b	UTSW	15	101679014	missense	probably benign	0.05
R7849:Krt6b	UTSW	15	101678574	missense	probably damaging	1.00
R8110:Krt6b	UTSW	15	101680142	missense	probably damaging	0.96
R8348:Krt6b	UTSW	15	101678020	missense	probably damaging	1.00
R8448:Krt6b	UTSW	15	101678020	missense	probably damaging	1.00
R8736:Krt6b	UTSW	15	101678612	missense	probably damaging	1.00
R9466:Krt6b	UTSW	15	101677592	missense	probably damaging	1.00
R9633:Krt6b	UTSW	15	101678561	missense	probably benign	0.00
R9720:Krt6b	UTSW	15	101679791	missense	probably benign	0.40
Z1177:Krt6b	UTSW	15	101678332	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGCAGCATCTACATCCTGAG -3'
(R):5'- GGAGGGTCCAGGTTTATAGGAC -3'

Sequencing Primer
(F):5'- GAGTCAGGTTAACTCTCCAGC -3'
(R):5'- TCCAGGTTTATAGGACATTAAGGG -3'

Posted On

2014-10-01