Mutagenetix > Incidental Mutation

Incidental Mutation 'R8448:Krt6b'

654633

Institutional Source

Beutler Lab

Gene Symbol

Krt6b

Ensembl Gene

ENSMUSG00000023041

Gene Name

keratin 6B

Synonyms

mK6[b], Krt2-6b

MMRRC Submission

067828-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.101) question?

Stock #

R8448 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

101584458-101588722 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 101586455 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 345 (Y345H)

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: Y345H

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

SMART Domains

Protein: ENSMUSP00000023786
Gene: ENSMUSG00000023041
AA Change: Y345H

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: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933430I17Rik	T	C	4: 62,461,022 (GRCm39)		probably null	Het
Adamts6	T	A	13: 104,616,027 (GRCm39)	C1030S	probably damaging	Het
Adamtsl3	C	A	7: 82,253,007 (GRCm39)	T1527K	possibly damaging	Het
Akap9	G	A	5: 3,998,897 (GRCm39)		probably null	Het
Ankle2	C	A	5: 110,389,909 (GRCm39)	P457T	possibly damaging	Het
Ankrd7	A	G	6: 18,868,007 (GRCm39)	N91S	probably damaging	Het
Ascc3	C	A	10: 50,494,173 (GRCm39)	Q203K	probably benign	Het
Baz2b	A	T	2: 59,742,137 (GRCm39)	D61E		Het
Bmpr1a	T	A	14: 34,136,759 (GRCm39)	K477N	probably benign	Het
Cacna1d	T	C	14: 29,824,364 (GRCm39)	I1040V	probably damaging	Het
Castor2	T	C	5: 134,166,955 (GRCm39)	F304L	possibly damaging	Het
Cdkn2a	C	A	4: 89,200,291 (GRCm39)	V20L	possibly damaging	Het
Chd5	A	G	4: 152,445,173 (GRCm39)	S385G	probably damaging	Het
Cntrob	A	G	11: 69,190,679 (GRCm39)	F46L	unknown	Het
Cth	T	C	3: 157,630,657 (GRCm39)	D4G	probably benign	Het
Cyld	C	T	8: 89,456,197 (GRCm39)	H416Y	probably damaging	Het
Dennd6a	C	A	14: 26,328,098 (GRCm39)	H264Q	possibly damaging	Het
Dnah1	T	C	14: 31,015,682 (GRCm39)	Y1672C	probably damaging	Het
Dnah8	A	G	17: 30,892,814 (GRCm39)	I800V	probably benign	Het
Esrp2	A	G	8: 106,858,853 (GRCm39)	Y595H	probably damaging	Het
F12	T	A	13: 55,566,301 (GRCm39)	Y497F	probably benign	Het
Fggy	A	G	4: 95,732,427 (GRCm39)	T473A	probably benign	Het
Garre1	A	T	7: 33,984,569 (GRCm39)	L18Q	probably damaging	Het
Gstt2	C	A	10: 75,668,526 (GRCm39)	R107L	probably damaging	Het
Hectd4	A	T	5: 121,358,319 (GRCm39)		probably benign	Het
Helb	A	G	10: 119,938,791 (GRCm39)	F561S	probably damaging	Het
Ints2	T	C	11: 86,146,249 (GRCm39)	T120A	probably benign	Het
Kdm5d	G	A	Y: 914,056 (GRCm39)	R331H	probably benign	Het
Limch1	A	G	5: 67,159,825 (GRCm39)	K418E	probably damaging	Het
Lrrc37	T	A	11: 103,511,726 (GRCm39)	T81S	unknown	Het
Med17	C	T	9: 15,173,735 (GRCm39)		probably null	Het
Met	A	T	6: 17,571,799 (GRCm39)	I1373F	probably benign	Het
Naip6	T	A	13: 100,436,894 (GRCm39)	Q543L	possibly damaging	Het
Nat9	T	C	11: 115,075,902 (GRCm39)	T40A	probably damaging	Het
Notch4	A	T	17: 34,805,763 (GRCm39)		probably null	Het
Ogdh	A	G	11: 6,292,619 (GRCm39)	N455S	probably damaging	Het
Or52k2	C	A	7: 102,254,207 (GRCm39)	F215L	probably benign	Het
Pde4a	T	C	9: 21,117,534 (GRCm39)	F599L	probably benign	Het
Pga5	T	C	19: 10,649,173 (GRCm39)	Y249C	probably damaging	Het
Plekha8	A	T	6: 54,607,539 (GRCm39)	K382M	probably damaging	Het
Plekhd1	A	T	12: 80,753,149 (GRCm39)	E119V	probably damaging	Het
Pnp	A	T	14: 51,185,356 (GRCm39)	H20L	probably benign	Het
Polq	A	T	16: 36,837,559 (GRCm39)		probably null	Het
Psma3	T	G	12: 71,035,250 (GRCm39)	I177R	probably damaging	Het
Ptpn3	A	G	4: 57,240,784 (GRCm39)		probably null	Het
Ptprt	A	T	2: 161,400,806 (GRCm39)	L1077Q	probably damaging	Het
Ralgps2	A	T	1: 156,651,744 (GRCm39)		probably null	Het
Rbm47	A	T	5: 66,184,573 (GRCm39)	M10K	possibly damaging	Het
Rere	A	G	4: 150,703,653 (GRCm39)	D186G	probably damaging	Het
Rpl24	T	C	16: 55,787,453 (GRCm39)	S38P	probably damaging	Het
Slco1a1	A	T	6: 141,885,787 (GRCm39)	F79L	possibly damaging	Het
Sorl1	T	A	9: 41,903,041 (GRCm39)	D1551V	probably benign	Het
Sos1	C	A	17: 80,741,548 (GRCm39)	M412I	probably benign	Het
Spast	G	A	17: 74,666,293 (GRCm39)	V209I	probably benign	Het
Spindoc	G	T	19: 7,335,769 (GRCm39)	Q340K	possibly damaging	Het
Tlr6	T	C	5: 65,111,185 (GRCm39)	Y574C	probably damaging	Het
Tnrc6a	A	G	7: 122,791,346 (GRCm39)	N1748S	possibly damaging	Het
Trbv13-2	A	T	6: 41,098,474 (GRCm39)	K16N	probably benign	Het
Triobp	C	T	15: 78,878,326 (GRCm39)	H1750Y	possibly damaging	Het
Usp24	A	G	4: 106,225,933 (GRCm39)	D659G	possibly damaging	Het
Vmn2r88	T	A	14: 51,656,253 (GRCm39)	C821S	probably damaging	Het
Whamm	T	A	7: 81,224,295 (GRCm39)	V197D	probably damaging	Het
Zfp777	A	G	6: 48,006,101 (GRCm39)	F431S	probably damaging	Het

Other mutations in Krt6b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00327:Krt6b	APN	15	101,588,267 (GRCm39)	missense	probably benign	0.22
IGL01653:Krt6b	APN	15	101,587,549 (GRCm39)	missense	probably damaging	1.00
IGL01900:Krt6b	APN	15	101,585,981 (GRCm39)	missense	possibly damaging	0.45
IGL03187:Krt6b	APN	15	101,588,392 (GRCm39)	missense	probably benign
R0511:Krt6b	UTSW	15	101,586,042 (GRCm39)	splice site	probably benign
R0788:Krt6b	UTSW	15	101,585,954 (GRCm39)	missense	probably damaging	0.96
R1370:Krt6b	UTSW	15	101,585,987 (GRCm39)	missense	probably damaging	0.96
R1481:Krt6b	UTSW	15	101,586,809 (GRCm39)	missense	probably benign	0.05
R2007:Krt6b	UTSW	15	101,586,562 (GRCm39)	missense	probably damaging	1.00
R2112:Krt6b	UTSW	15	101,586,999 (GRCm39)	missense	possibly damaging	0.48
R2166:Krt6b	UTSW	15	101,587,050 (GRCm39)	critical splice acceptor site	probably null
R2227:Krt6b	UTSW	15	101,587,557 (GRCm39)	missense	probably damaging	0.96
R2495:Krt6b	UTSW	15	101,586,757 (GRCm39)	missense	probably damaging	1.00
R2496:Krt6b	UTSW	15	101,588,216 (GRCm39)	missense	probably damaging	1.00
R4726:Krt6b	UTSW	15	101,586,520 (GRCm39)	missense	probably damaging	0.98
R4969:Krt6b	UTSW	15	101,588,460 (GRCm39)	missense	possibly damaging	0.71
R6301:Krt6b	UTSW	15	101,587,386 (GRCm39)	missense	probably damaging	1.00
R6646:Krt6b	UTSW	15	101,585,649 (GRCm39)	missense	probably damaging	0.98
R7232:Krt6b	UTSW	15	101,586,577 (GRCm39)	missense	probably damaging	1.00
R7406:Krt6b	UTSW	15	101,587,513 (GRCm39)	missense	probably benign	0.04
R7414:Krt6b	UTSW	15	101,587,449 (GRCm39)	missense	probably benign	0.05
R7849:Krt6b	UTSW	15	101,587,009 (GRCm39)	missense	probably damaging	1.00
R8110:Krt6b	UTSW	15	101,588,577 (GRCm39)	missense	probably damaging	0.96
R8348:Krt6b	UTSW	15	101,586,455 (GRCm39)	missense	probably damaging	1.00
R8736:Krt6b	UTSW	15	101,587,047 (GRCm39)	missense	probably damaging	1.00
R9466:Krt6b	UTSW	15	101,586,027 (GRCm39)	missense	probably damaging	1.00
R9633:Krt6b	UTSW	15	101,586,996 (GRCm39)	missense	probably benign	0.00
R9720:Krt6b	UTSW	15	101,588,226 (GRCm39)	missense	probably benign	0.40
Z1177:Krt6b	UTSW	15	101,586,767 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCATGGACCCCATTTATGGC -3'
(R):5'- GAGATATTGTGGCAATTTCTGTTCTCC -3'

Sequencing Primer
(F):5'- ATGGACCCCATTTATGGCAACTTTG -3'
(R):5'- AGACACATCTGTGGTCCT -3'

Posted On

2020-10-20