Mutagenetix > Incidental Mutation

Incidental Mutation 'R8736:Krt6b'

663046

Institutional Source

Beutler Lab

Gene Symbol

Krt6b

Ensembl Gene

ENSMUSG00000023041

Gene Name

keratin 6B

Synonyms

Krt2-6b, mK6[b]

MMRRC Submission

068617-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.137) question?

Stock #

R8736 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

101676023-101680287 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 101678612 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 242 (Y242H)

Ref Sequence

ENSEMBL: ENSMUSP00000023786 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000023786
AA Change: Y242H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000023786
Gene: ENSMUSG00000023041
AA Change: Y242H

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.9%
20x: 99.8%

Validation Efficiency

100% (36/36)

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	T	A	11: 78,288,049	S2047T	probably benign	Het
Ccdc125	T	C	13: 100,679,325	S100P	possibly damaging	Het
Ccnl1	T	C	3: 65,958,026	T35A	unknown	Het
Cul2	T	A	18: 3,434,019	V672E	probably damaging	Het
Cyb5a	C	A	18: 84,851,435		probably benign	Het
Ddhd1	T	A	14: 45,599,185	Y831F	probably benign	Het
Ddr1	A	G	17: 35,684,212	I698T	probably damaging	Het
Elovl7	A	T	13: 108,256,786	I18F	probably benign	Het
Fcgbp	G	T	7: 28,106,196	V1967L	probably benign	Het
Gm40460	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 142,240,713		probably benign	Het
Gtf2h3	A	G	5: 124,590,909	N177S	probably damaging	Het
Mab21l2	C	A	3: 86,547,300	R131L	probably damaging	Het
Maml1	T	C	11: 50,257,899	T1005A	possibly damaging	Het
Mapk4	T	C	18: 73,970,325	T38A	probably benign	Het
Mapkapk5	G	A	5: 121,527,178	A338V	possibly damaging	Het
Morc2a	C	A	11: 3,681,737	T556K	probably damaging	Het
Muc16	G	A	9: 18,550,843	Q7459*	probably null	Het
Muc6	T	C	7: 141,642,172	T1256A	possibly damaging	Het
Olfr1271	A	G	2: 90,265,578	V284A	possibly damaging	Het
Olfr1499	T	C	19: 13,814,994	I199V	probably benign	Het
Olfr380	T	A	11: 73,453,558	Y218F	probably damaging	Het
Olfr466	T	G	13: 65,152,724	C167G	probably damaging	Het
Olfr76	A	G	19: 12,119,945	C256R	probably damaging	Het
Olfr835	G	T	9: 19,035,478	M118I	probably damaging	Het
Pik3c2a	A	G	7: 116,376,229	V701A	possibly damaging	Het
Plxnb2	A	T	15: 89,162,058	I918N	probably damaging	Het
Pms1	T	C	1: 53,267,894	S118G	possibly damaging	Het
Ppp1r18	A	G	17: 35,873,819	T549A	probably benign	Het
Rap1gds1	T	C	3: 138,941,751	I559V	probably benign	Het
Rftn1	G	T	17: 50,047,380	A318D	probably damaging	Het
Tenm4	C	T	7: 96,905,941	P2618S	probably benign	Het
Tlx1	A	G	19: 45,153,536	T200A	possibly damaging	Het
Usp1	A	G	4: 98,932,868	I488V	probably damaging	Het
Vmn2r6	T	A	3: 64,559,800	M93L	probably damaging	Het
Zfp870	A	T	17: 32,885,992	V31E	possibly 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
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
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'- AGAGCATTCACATCTGTCTCCAC -3'
(R):5'- AAAGCTTGGTCACAGGGATG -3'

Sequencing Primer
(F):5'- ACCACCACGATTTCTCTGGAATGG -3'
(R):5'- CCAAGGAGGGTCCAGGTTTATAG -3'

Posted On

2021-03-08