Mutagenetix > Incidental Mutation

Incidental Mutation 'R8348:Krt6b'

645394

Institutional Source

Beutler Lab

Gene Symbol

Krt6b

Ensembl Gene

ENSMUSG00000023041

Gene Name

keratin 6B

Synonyms

Krt2-6b, mK6[b]

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.107) question?

Stock #

R8348 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

101676023-101680287 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 101678020 bp (GRCm38)

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: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406P16Rik	A	T	7: 34,285,144	L18Q	probably damaging	Het
4933430I17Rik	T	C	4: 62,542,785		probably null	Het
Adamts6	T	A	13: 104,479,519	C1030S	probably damaging	Het
Adamtsl3	C	A	7: 82,603,799	T1527K	possibly damaging	Het
Akap9	G	A	5: 3,948,897		probably null	Het
Ankle2	C	A	5: 110,242,043	P457T	possibly damaging	Het
Ankrd7	A	G	6: 18,868,008	N91S	probably damaging	Het
Ascc3	C	A	10: 50,618,077	Q203K	probably benign	Het
Baz2b	A	T	2: 59,911,793	D61E		Het
Bmpr1a	T	A	14: 34,414,802	K477N	probably benign	Het
Cacna1d	T	C	14: 30,102,407	I1040V	probably damaging	Het
Cdkn2a	C	A	4: 89,282,054	V20L	possibly damaging	Het
Chd5	A	G	4: 152,360,716	S385G	probably damaging	Het
Cntrob	A	G	11: 69,299,853	F46L	unknown	Het
Cth	T	C	3: 157,925,020	D4G	probably benign	Het
Cyld	C	T	8: 88,729,569	H416Y	probably damaging	Het
Dennd6a	C	A	14: 26,606,943	H264Q	possibly damaging	Het
Dnah1	T	C	14: 31,293,725	Y1672C	probably damaging	Het
Dnah8	A	G	17: 30,673,840	I800V	probably benign	Het
Esrp2	A	G	8: 106,132,221	Y595H	probably damaging	Het
F12	T	A	13: 55,418,488	Y497F	probably benign	Het
Fggy	A	G	4: 95,844,190	T473A	probably benign	Het
Gatsl2	T	C	5: 134,138,116	F304L	possibly damaging	Het
Gm21103	C	A	14: 6,301,873	R180L	probably benign	Het
Gm884	T	A	11: 103,620,900	T81S	unknown	Het
Gstt2	C	A	10: 75,832,692	R107L	probably damaging	Het
Hectd4	A	T	5: 121,220,256		probably benign	Het
Helb	A	G	10: 120,102,886	F561S	probably damaging	Het
Ints2	T	C	11: 86,255,423	T120A	probably benign	Het
Kdm5d	G	A	Y: 914,056	R331H	probably benign	Het
Limch1	A	G	5: 67,002,482	K418E	probably damaging	Het
Med17	C	T	9: 15,262,439		probably null	Het
Met	A	T	6: 17,571,800	I1373F	probably benign	Het
Naip6	T	A	13: 100,300,386	Q543L	possibly damaging	Het
Nat9	T	C	11: 115,185,076	T40A	probably damaging	Het
Ogdh	A	G	11: 6,342,619	N455S	probably damaging	Het
Olfr552	C	A	7: 102,605,000	F215L	probably benign	Het
Pde4a	T	C	9: 21,206,238	F599L	probably benign	Het
Pga5	T	C	19: 10,671,809	Y249C	probably damaging	Het
Plekha8	A	T	6: 54,630,554	K382M	probably damaging	Het
Plekhd1	A	T	12: 80,706,375	E119V	probably damaging	Het
Pnp	A	T	14: 50,947,899	H20L	probably benign	Het
Polq	A	T	16: 37,017,197		probably null	Het
Psma3	T	G	12: 70,988,476	I177R	probably damaging	Het
Ptpn3	A	G	4: 57,240,784		probably null	Het
Ptprt	A	T	2: 161,558,886	L1077Q	probably damaging	Het
Rbm47	A	T	5: 66,027,230	M10K	possibly damaging	Het
Rere	A	G	4: 150,619,196	D186G	probably damaging	Het
Rpl24	T	C	16: 55,967,090	S38P	probably damaging	Het
Slco1a1	A	T	6: 141,940,061	F79L	possibly damaging	Het
Sorl1	T	A	9: 41,991,745	D1551V	probably benign	Het
Sos1	C	A	17: 80,434,119	M412I	probably benign	Het
Spast	G	A	17: 74,359,298	V209I	probably benign	Het
Spindoc	G	T	19: 7,358,404	Q340K	possibly damaging	Het
Tlr6	T	C	5: 64,953,842	Y574C	probably damaging	Het
Tnrc6a	A	G	7: 123,192,123	N1748S	possibly damaging	Het
Trbv13-2	A	T	6: 41,121,540	K16N	probably benign	Het
Triobp	C	T	15: 78,994,126	H1750Y	possibly damaging	Het
Ubc	C	T	5: 125,388,031	M77I	probably damaging	Het
Usp24	A	G	4: 106,368,736	D659G	possibly damaging	Het
Vmn2r88	T	A	14: 51,418,796	C821S	probably damaging	Het
Whamm	T	A	7: 81,574,547	V197D	probably damaging	Het
Zfp777	A	G	6: 48,029,167	F431S	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
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
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'- AGAGCATGGACCCCATTTATGG -3'
(R):5'- ATTGTGGCAATTTCTGTTCTCCAG -3'

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

Posted On

2020-09-02