Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02244:Krt33b'

286087

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Krt33b

Ensembl Gene

ENSMUSG00000057723

Gene Name

keratin 33B

Synonyms

mHa3, Krt1-3, Ha3, Ha4

Accession Numbers

Essential gene?

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

Stock #

IGL02244

Quality Score

Status

Chromosome

Chromosomal Location

99914460-99920694 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 99916189 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 258 (V258A)

Ref Sequence

ENSEMBL: ENSMUSP00000073552 (fasta)

Gene Model

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

AlphaFold

Q61897

Predicted Effect

probably benign
Transcript: ENSMUST00000073890
AA Change: V258A

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000073552
Gene: ENSMUSG00000057723
AA Change: V258A

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438H23Rik	G	T	16: 90,853,085 (GRCm39)	T17K	probably benign	Het
Agbl1	T	C	7: 76,416,120 (GRCm39)	S714P	probably damaging	Het
Araf	A	G	X: 20,719,835 (GRCm39)		probably benign	Het
Armc3	G	A	2: 19,290,948 (GRCm39)		probably null	Het
Armc8	A	T	9: 99,365,227 (GRCm39)	D638E	probably benign	Het
Bpifb5	C	T	2: 154,067,068 (GRCm39)	T107I	possibly damaging	Het
Ces1e	A	C	8: 93,938,977 (GRCm39)		probably null	Het
Col4a3	C	A	1: 82,647,492 (GRCm39)		probably benign	Het
Col4a5	A	G	X: 140,382,669 (GRCm39)		probably benign	Het
Crocc	T	C	4: 140,765,231 (GRCm39)	H477R	probably benign	Het
Dgkd	C	A	1: 87,842,863 (GRCm39)	N130K	probably benign	Het
Dock1	C	T	7: 134,379,174 (GRCm39)	Q634*	probably null	Het
Dzip3	C	T	16: 48,801,351 (GRCm39)	V58I	probably benign	Het
Fndc3a	A	G	14: 72,793,807 (GRCm39)		probably benign	Het
Glp2r	C	T	11: 67,612,817 (GRCm39)	R379H	probably damaging	Het
Kctd12b	T	A	X: 152,472,330 (GRCm39)	M120L	probably benign	Het
Lpin1	T	A	12: 16,591,770 (GRCm39)	N819I	probably damaging	Het
Lurap1l	T	C	4: 80,871,866 (GRCm39)	S120P	probably damaging	Het
Lysmd4	T	C	7: 66,875,672 (GRCm39)	S112P	probably damaging	Het
Myo1e	A	G	9: 70,274,971 (GRCm39)	K708R	probably benign	Het
Nr3c1	T	A	18: 39,554,610 (GRCm39)		probably benign	Het
Nup62cl	G	T	X: 138,922,780 (GRCm39)	N239K	probably benign	Het
Nwd1	A	T	8: 73,434,210 (GRCm39)	E1269V	probably damaging	Het
Or52e7	C	T	7: 104,685,152 (GRCm39)	T249M	probably damaging	Het
Pcdh9	A	C	14: 93,564,204 (GRCm39)	L1084R	probably damaging	Het
Plxnd1	A	G	6: 115,955,218 (GRCm39)	M543T	probably benign	Het
Prss53	T	A	7: 127,487,964 (GRCm39)	T173S	possibly damaging	Het
Reep2	C	A	18: 34,973,807 (GRCm39)		probably benign	Het
Rp1	T	C	1: 4,419,003 (GRCm39)	D703G	probably benign	Het
Sbf2	T	G	7: 110,159,502 (GRCm39)	D36A	probably damaging	Het
Sh3kbp1	C	T	X: 158,586,724 (GRCm39)	R99W	probably damaging	Het
Sis	T	A	3: 72,863,523 (GRCm39)	R238S	probably benign	Het
Slc35e2	T	A	4: 155,703,019 (GRCm39)	V344D	probably damaging	Het
Specc1	G	A	11: 62,019,194 (GRCm39)	V678I	probably benign	Het
Supt6	T	C	11: 78,123,623 (GRCm39)	D49G	possibly damaging	Het
Tecpr1	G	A	5: 144,146,821 (GRCm39)	A515V	probably benign	Het
Tlr4	G	A	4: 66,752,298 (GRCm39)		probably null	Het
Tmco5b	A	G	2: 113,118,619 (GRCm39)	E114G	probably damaging	Het
Tspear	A	T	10: 77,688,690 (GRCm39)		probably benign	Het
Txlnb	T	A	10: 17,719,116 (GRCm39)	V649E	probably benign	Het
Utp20	A	G	10: 88,651,818 (GRCm39)		probably benign	Het
Virma	G	A	4: 11,546,031 (GRCm39)	R1673Q	probably damaging	Het
Vmn2r70	T	A	7: 85,214,211 (GRCm39)	T314S	probably benign	Het
Zfp938	G	T	10: 82,061,906 (GRCm39)	T238K	possibly damaging	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
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
R8468:Krt33b	UTSW	11	99,920,615 (GRCm39)	missense	probably damaging	0.99
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

Posted On

2015-04-16