Mutagenetix > Incidental Mutation

Incidental Mutation 'R9466:Krt6b'

715179

Institutional Source

Beutler Lab

Gene Symbol

Krt6b

Ensembl Gene

ENSMUSG00000023041

Gene Name

keratin 6B

Synonyms

mK6[b], Krt2-6b

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9466 (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 T at 101586027 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 349 (Y349N)

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: Y349N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000023786
Gene: ENSMUSG00000023041
AA Change: Y349N

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: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acox2	A	G	14: 8,248,092 (GRCm38)	S397P	probably benign	Het
Arhgef28	T	A	13: 98,124,825 (GRCm39)	S486C		Het
Arih2	C	G	9: 108,488,938 (GRCm39)	R260P	probably damaging	Het
Atp8b2	A	T	3: 89,851,484 (GRCm39)	Y928N	probably benign	Het
Brip1	T	C	11: 86,048,584 (GRCm39)	T253A	possibly damaging	Het
Brsk2	A	T	7: 141,536,800 (GRCm39)	Y91F	probably benign	Het
C7	C	T	15: 5,044,884 (GRCm39)	V385I	probably benign	Het
Cdk5rap1	C	A	2: 154,192,756 (GRCm39)	V414F	possibly damaging	Het
Creb3l1	C	T	2: 91,822,231 (GRCm39)		probably null	Het
Cyp2d26	A	T	15: 82,674,424 (GRCm39)	M486K	probably benign	Het
Dchs2	G	T	3: 83,176,564 (GRCm39)	A841S	probably damaging	Het
Dnajb1	T	G	8: 84,337,384 (GRCm39)	V320G	probably damaging	Het
Dusp10	T	C	1: 183,769,234 (GRCm39)	S67P	probably damaging	Het
Epha8	T	C	4: 136,662,414 (GRCm39)	T548A	probably benign	Het
Grhl3	A	T	4: 135,283,412 (GRCm39)	S276T	probably benign	Het
Hspd1	A	T	1: 55,119,483 (GRCm39)	N331K	probably benign	Het
Ikbke	T	A	1: 131,193,445 (GRCm39)	Q519L	probably damaging	Het
Il18rap	C	T	1: 40,582,177 (GRCm39)	T366M	probably benign	Het
Kdm4b	A	C	17: 56,696,548 (GRCm39)	E421D	probably benign	Het
Larp1	T	C	11: 57,943,461 (GRCm39)	S845P	possibly damaging	Het
Ngef	G	A	1: 87,431,010 (GRCm39)	P269L	probably damaging	Het
Nup98	G	A	7: 101,818,611 (GRCm39)	S473L	probably benign	Het
Or10w1	T	A	19: 13,631,796 (GRCm39)	M1K	probably null	Het
Or14c45	C	G	7: 86,176,080 (GRCm39)	F38L	probably benign	Het
Or8g28	T	A	9: 39,169,491 (GRCm39)	H159L	possibly damaging	Het
Ovgp1	G	A	3: 105,887,484 (GRCm39)	R265H		Het
Pgap3	C	T	11: 98,289,796 (GRCm39)	R65Q	probably benign	Het
Pip5k1c	C	A	10: 81,152,710 (GRCm39)		probably benign	Het
Plcg1	C	A	2: 160,596,520 (GRCm39)	H680N	probably benign	Het
Pnliprp1	A	T	19: 58,723,081 (GRCm39)	D194V	probably damaging	Het
Pramel1	A	G	4: 143,123,799 (GRCm39)	D158G	probably benign	Het
Prkd2	A	T	7: 16,589,696 (GRCm39)	H466L	probably damaging	Het
Prkd3	T	C	17: 79,264,049 (GRCm39)	I683V	probably damaging	Het
Prrc2c	A	T	1: 162,503,258 (GRCm39)	H2734Q	possibly damaging	Het
Scnn1b	A	T	7: 121,502,013 (GRCm39)	I224F	probably damaging	Het
Sis	A	T	3: 72,872,910 (GRCm39)		probably null	Het
Syt15	C	T	14: 33,942,991 (GRCm39)	L17F	probably damaging	Het
Tenm4	T	C	7: 96,199,252 (GRCm39)	F15S	possibly damaging	Het
Thsd7b	A	G	1: 130,122,866 (GRCm39)	K1495R	probably benign	Het
Ttc28	T	C	5: 111,330,895 (GRCm39)	S372P	probably damaging	Het
Vmn1r68	A	T	7: 10,261,317 (GRCm39)	Y260*	probably null	Het
Vmn1r68	A	G	7: 10,261,417 (GRCm39)	V227A	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
R8448: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
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'- GACCATGGTTTCTGGTGAGC -3'
(R):5'- TCCATGCTCTTTGCTTGAGATG -3'

Sequencing Primer
(F):5'- CCATGGTTTCTGGTGAGCAAGAG -3'
(R):5'- GTACTCTGAACAATGATCCTCTTGAG -3'

Posted On

2022-06-15