Mutagenetix > Incidental Mutation

Incidental Mutation 'R8468:Krt33b'

656922

Institutional Source

Beutler Lab

Gene Symbol

Krt33b

Ensembl Gene

ENSMUSG00000057723

Gene Name

keratin 33B

Synonyms

mHa3, Krt1-3, Ha3, Ha4

MMRRC Submission

067912-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R8468 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

99914460-99920694 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 99920615 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 13 (R13C)

Ref Sequence

ENSEMBL: ENSMUSP00000073552 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073890]

AlphaFold

Q61897

Predicted Effect

probably damaging
Transcript: ENSMUST00000073890
AA Change: R13C

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000073552
Gene: ENSMUSG00000057723
AA Change: R13C

Domain	Start	End	E-Value	Type
low complexity region	11	26	N/A	INTRINSIC
Filament	55	366	1.39e-152	SMART
internal_repeat_1	368	390	8.93e-6	PROSPERO
internal_repeat_1	384	404	8.93e-6	PROSPERO

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (36/36)

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts1	A	G	16: 85,592,444 (GRCm39)	W655R	possibly damaging	Het
Adamts3	C	T	5: 89,842,627 (GRCm39)	A748T	probably benign	Het
Ano1	A	C	7: 144,209,357 (GRCm39)	F248C	probably damaging	Het
Ap2b1	T	A	11: 83,241,891 (GRCm39)	L628Q	probably damaging	Het
BC035947	C	A	1: 78,474,967 (GRCm39)	A522S	probably damaging	Het
Bdp1	A	G	13: 100,197,076 (GRCm39)	V1103A	probably benign	Het
Cd248	T	A	19: 5,119,910 (GRCm39)	I586N	possibly damaging	Het
Dnah9	C	A	11: 65,722,556 (GRCm39)	M4428I	probably benign	Het
Epha5	T	C	5: 84,290,275 (GRCm39)		probably null	Het
Fan1	T	A	7: 64,022,234 (GRCm39)	N340Y	probably damaging	Het
Fastkd2	T	A	1: 63,770,923 (GRCm39)	L93Q	probably benign	Het
Gm6665	T	C	18: 31,953,453 (GRCm39)	D5G	possibly damaging	Het
Gphn	T	C	12: 78,273,601 (GRCm39)	V17A	probably benign	Het
Gpr85	A	T	6: 13,836,295 (GRCm39)	L203H	probably damaging	Het
Grk6	A	G	13: 55,599,198 (GRCm39)	Y166C	probably damaging	Het
Ints3	A	G	3: 90,313,560 (GRCm39)	V356A	probably damaging	Het
Lgals3	A	G	14: 47,619,104 (GRCm39)	I146V	possibly damaging	Het
Lrp1	G	A	10: 127,394,519 (GRCm39)	R2565C	probably damaging	Het
Miip	G	T	4: 147,945,928 (GRCm39)	D325E	probably damaging	Het
Naaladl1	T	A	19: 6,158,615 (GRCm39)	V249E	probably damaging	Het
Nfxl1	C	T	5: 72,675,548 (GRCm39)	R811K	possibly damaging	Het
Or12e10	T	C	2: 87,641,082 (GRCm39)	I306T	possibly damaging	Het
Or2ag2b	A	G	7: 106,418,046 (GRCm39)	Y252C	possibly damaging	Het
Or52e7	A	T	7: 104,684,953 (GRCm39)	I183F	probably damaging	Het
Or56a3b	A	G	7: 104,770,685 (GRCm39)	D7G	probably benign	Het
Or5ak24	T	A	2: 85,260,522 (GRCm39)	Y217F	probably damaging	Het
Or6c69c	C	T	10: 129,910,303 (GRCm39)	T8I	probably benign	Het
Pkd2l2	A	G	18: 34,560,464 (GRCm39)	D357G	possibly damaging	Het
Ppp1r36	A	G	12: 76,482,979 (GRCm39)	Y189C	probably damaging	Het
Rev3l	A	G	10: 39,703,987 (GRCm39)	E2011G	probably damaging	Het
Sestd1	T	A	2: 77,022,090 (GRCm39)	T534S	probably benign	Het
Sfmbt1	G	A	14: 30,495,941 (GRCm39)	A75T	probably benign	Het
Smarcc2	G	A	10: 128,320,262 (GRCm39)	R882H	probably benign	Het
Son	CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC	CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC	16: 91,453,579 (GRCm39)		probably benign	Het
Speg	C	T	1: 75,407,953 (GRCm39)	A3216V	probably damaging	Het
Vmn1r12	A	G	6: 57,136,370 (GRCm39)	T112A	probably benign	Het
Zfp937	T	G	2: 150,080,634 (GRCm39)	D221E	probably benign	Het

Other mutations in Krt33b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01572:Krt33b	APN	11	99,917,378 (GRCm39)	missense	probably damaging	1.00
IGL01629:Krt33b	APN	11	99,920,386 (GRCm39)	missense	probably benign
IGL02244:Krt33b	APN	11	99,916,189 (GRCm39)	missense	probably benign	0.06
IGL02811:Krt33b	APN	11	99,920,395 (GRCm39)	missense	probably benign	0.01
IGL03340:Krt33b	APN	11	99,916,298 (GRCm39)	splice site	probably benign
R1758:Krt33b	UTSW	11	99,916,361 (GRCm39)	missense	probably damaging	1.00
R2937:Krt33b	UTSW	11	99,914,835 (GRCm39)	missense	probably benign	0.27
R5414:Krt33b	UTSW	11	99,920,612 (GRCm39)	missense	probably benign	0.17
R5703:Krt33b	UTSW	11	99,916,374 (GRCm39)	missense	probably benign	0.04
R6307:Krt33b	UTSW	11	99,915,694 (GRCm39)	missense	probably benign
R7463:Krt33b	UTSW	11	99,920,389 (GRCm39)	missense	probably damaging	1.00
R7803:Krt33b	UTSW	11	99,916,084 (GRCm39)	critical splice donor site	probably null
R9102:Krt33b	UTSW	11	99,915,846 (GRCm39)	missense	probably damaging	1.00
R9502:Krt33b	UTSW	11	99,917,315 (GRCm39)	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- GGATCTTACATTCCAGCTCTGC -3'
(R):5'- GCTAAAGGACTCATGCGAGG -3'

Sequencing Primer
(F):5'- GCCTCACCTTCTCCATATAGG -3'
(R):5'- CTCATGCGAGGTGGCTAAATAAC -3'

Posted On

2021-01-18