Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00327:Krt6b'

4031

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

Is this an essential gene?

Probably non essential (E-score: 0.109) question?

Stock #

IGL00327

Quality Score

Status

Chromosome

Chromosomal Location

101676023-101680287 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 101679832 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Proline at position 131 (Q131P)

Ref Sequence

ENSEMBL: ENSMUSP00000023786 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000023786
AA Change: Q131P

PolyPhen 2 Score 0.219 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000023786
Gene: ENSMUSG00000023041
AA Change: Q131P

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: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atg16l2	A	G	7: 101,300,160	L60S	probably damaging	Het
Aup1	A	G	6: 83,056,409	E267G	probably damaging	Het
Bpi	T	C	2: 158,274,844		probably benign	Het
Brinp2	A	G	1: 158,247,100	Y484H	probably benign	Het
Colq	C	T	14: 31,535,588		probably null	Het
Cubn	T	C	2: 13,427,056	D1242G	possibly damaging	Het
Dclre1c	T	A	2: 3,433,784	L95*	probably null	Het
Fry	C	T	5: 150,340,404	R171*	probably null	Het
Krt23	T	C	11: 99,492,784	E94G	probably damaging	Het
Lonp1	A	G	17: 56,619,265	L414P	probably damaging	Het
Lrit2	T	A	14: 37,071,963	M328K	probably benign	Het
Lysmd3	C	T	13: 81,665,078	L22F	probably benign	Het
Map3k20	A	G	2: 72,412,170	D388G	probably damaging	Het
Mrpl44	C	T	1: 79,781,004	L290F	probably benign	Het
Nell1	A	G	7: 50,120,673	H160R	probably damaging	Het
Nlrc3	T	C	16: 3,955,166	N109S	probably damaging	Het
Prpf40a	T	C	2: 53,150,688	T553A	probably benign	Het
Ptpn23	G	T	9: 110,388,106	T894K	probably benign	Het
Scgb2b27	A	G	7: 34,013,346	C24R	probably damaging	Het
Sipa1l3	G	T	7: 29,354,133	H140N	probably damaging	Het
Slc22a23	T	G	13: 34,305,245	D219A	probably damaging	Het
Slc9a7	T	C	X: 20,138,919	Y557C	probably damaging	Het
Slco1a1	A	T	6: 141,909,125	I600N	probably damaging	Het
Tmx2	T	C	2: 84,673,299	N190S	probably benign	Het
Tpr	T	G	1: 150,423,696		probably benign	Het
Yme1l1	T	C	2: 23,192,500	V501A	probably benign	Het

Other mutations in Krt6b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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
Z1177:Krt6b	UTSW	15	101678332	missense	probably damaging	1.00

Posted On

2012-04-20