Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01900:Krt6b'

179501

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Krt6b

Ensembl Gene

ENSMUSG00000023041

Gene Name

keratin 6B

Synonyms

Krt2-6b, mK6[b]

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.092) question?

Stock #

IGL01900

Quality Score

Status

Chromosome

Chromosomal Location

101676023-101680287 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 101677546 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 364 (R364H)

Ref Sequence

ENSEMBL: ENSMUSP00000023786 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023786
AA Change: R364H

PolyPhen 2 Score 0.454 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000023786
Gene: ENSMUSG00000023041
AA Change: R364H

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430531B16Rik	A	T	7: 139,972,570	V274E	probably damaging	Het
Aoc2	T	C	11: 101,328,823	Y627H	probably damaging	Het
Car14	T	C	3: 95,901,221	D27G	probably benign	Het
Col6a3	A	G	1: 90,795,010		probably null	Het
Ddx60	T	C	8: 62,000,709		probably benign	Het
Dhrs4	A	G	14: 55,488,197	E236G	probably benign	Het
Fpr1	T	A	17: 17,877,521	T69S	probably damaging	Het
Gm21738	G	A	14: 19,416,979	S144L	probably benign	Het
Hmcn1	A	T	1: 150,742,260		probably benign	Het
Hook2	T	C	8: 85,001,311		probably benign	Het
Myh2	T	A	11: 67,183,783	I720N	probably benign	Het
Olfr669	A	G	7: 104,939,162	D212G	probably damaging	Het
Optc	A	G	1: 133,902,129	V181A	possibly damaging	Het
Ptprn	A	G	1: 75,252,248		probably benign	Het
Rnf213	A	G	11: 119,443,015	T3018A	probably benign	Het
Rps27l	T	A	9: 66,946,943		probably benign	Het
Serpinb6c	A	T	13: 33,880,190	M294K	possibly damaging	Het
Tekt2	G	T	4: 126,324,628	T83K	probably benign	Het
Vmn2r62	T	A	7: 42,789,071	N114Y	probably benign	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
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
R2166:Krt6b	UTSW	15	101678615	critical splice acceptor site	probably null
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

Posted On

2014-05-07