Mutagenetix > Incidental Mutations

Incidental Mutation 'R0788:Krt6b'

76371

Institutional Source

Beutler Lab

Gene Symbol

Krt6b

Ensembl Gene

ENSMUSG00000023041

Gene Name

keratin 6B

Synonyms

Krt2-6b, mK6[b]

MMRRC Submission

038968-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.147) question?

Stock #

R0788 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

101676023-101680287 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 101677519 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 373 (I373T)

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: I373T

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000023786
Gene: ENSMUSG00000023041
AA Change: I373T

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

Meta Mutation Damage Score

0.3639

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 96.9%
20x: 93.0%

Validation Efficiency

98% (53/54)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	T	A	13: 119,473,932	Y380*	probably null	Het
4931406B18Rik	C	A	7: 43,499,199	S196I	probably damaging	Het
Ablim2	T	C	5: 35,857,901	S519P	probably benign	Het
Adnp2	A	C	18: 80,130,004	C397G	probably benign	Het
Aldh1l2	A	G	10: 83,516,164	S156P	probably damaging	Het
Bcl2l15	G	T	3: 103,833,478		probably null	Het
Brd9	T	A	13: 73,944,867		probably benign	Het
Cars2	A	C	8: 11,529,672	I262R	possibly damaging	Het
Ccdc106	T	C	7: 5,057,534		probably benign	Het
Cdh3	G	A	8: 106,541,415	V361M	probably benign	Het
Cdhr1	A	C	14: 37,087,375		probably null	Het
Cdk5rap2	A	G	4: 70,307,231	I559T	possibly damaging	Het
Cdkn2aip	T	A	8: 47,713,763	Q3L	possibly damaging	Het
Chd1	G	T	17: 15,707,114	V10F	possibly damaging	Het
Col4a4	G	A	1: 82,524,996	P356S	unknown	Het
Col6a4	T	C	9: 106,071,998	K813E	probably benign	Het
Cttnbp2	G	A	6: 18,423,835	T830I	probably damaging	Het
Cyp2t4	A	G	7: 27,155,163	M23V	probably null	Het
Cyp3a16	T	C	5: 145,465,076	K59E	probably benign	Het
Dpysl5	G	A	5: 30,788,841		probably null	Het
E130308A19Rik	T	A	4: 59,719,847	Y460N	possibly damaging	Het
Ear6	T	A	14: 51,854,030	C11*	probably null	Het
Fat1	C	T	8: 45,023,983	T1999M	probably benign	Het
Gsdmd	T	A	15: 75,864,254	C77*	probably null	Het
Hsp90ab1	ACTTCTT	ACTT	17: 45,569,499		probably benign	Het
Kif28	A	T	1: 179,705,223		probably benign	Het
Lgr5	T	C	10: 115,452,997	T509A	probably damaging	Het
Mapkbp1	C	T	2: 120,024,001	P1354S	probably benign	Het
Nat10	A	G	2: 103,743,115	S346P	probably damaging	Het
Ncoa2	T	C	1: 13,166,889		probably benign	Het
Necap1	C	T	6: 122,881,536	R113W	probably damaging	Het
Olfr365	T	A	2: 37,202,023	Y261N	possibly damaging	Het
Orc4	A	T	2: 48,937,467	V38E	possibly damaging	Het
Per1	G	A	11: 69,101,359		probably benign	Het
Polb	T	C	8: 22,642,338	D130G	probably null	Het
Ppcs	T	C	4: 119,422,178	N59S	probably damaging	Het
Ppp2ca	A	G	11: 52,113,142	E42G	possibly damaging	Het
Ptprf	T	C	4: 118,226,466	T807A	probably damaging	Het
Rapgef2	A	C	3: 79,099,195	F284V	possibly damaging	Het
Sestd1	A	T	2: 77,191,716	F544I	probably damaging	Het
Slfn3	G	A	11: 83,212,836	G178S	possibly damaging	Het
Supt6	G	A	11: 78,207,772		probably benign	Het
Tas2r109	T	A	6: 132,980,301	Q222L	probably benign	Het
Tekt4	A	C	17: 25,472,047	D109A	probably damaging	Het
Tob2	C	A	15: 81,851,702	R22L	probably damaging	Het
Ttn	T	G	2: 76,822,938	E178D	possibly damaging	Het
Ube2u	C	A	4: 100,514,740		probably benign	Het
Uggt2	A	G	14: 119,095,400		probably benign	Het
Vstm2a	T	C	11: 16,259,968	F65L	probably damaging	Het
Zfp57	A	G	17: 37,006,200		probably benign	Het
Znrf3	G	T	11: 5,281,320	P731Q	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
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
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

Predicted Primers

PCR Primer
(F):5'- GCTCAGCATCAGCAATAGCAGCTTG -3'
(R):5'- GCTTCTCTTGAGGAAAAGCCAGCAC -3'

Sequencing Primer
(F):5'- TGCAGGTTGGCACACTG -3'
(R):5'- AGTGTGTGCCACTTAGAGGT -3'

Posted On

2013-10-16