Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02811:Krt33b'

360572

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: 0.061) question?

Stock #

IGL02811

Quality Score

Status

Chromosome

Chromosomal Location

99914460-99920694 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 99920395 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 86 (C86F)

Ref Sequence

ENSEMBL: ENSMUSP00000073552 (fasta)

Gene Model

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

AlphaFold

Q61897

Predicted Effect

probably benign
Transcript: ENSMUST00000073890
AA Change: C86F

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000073552
Gene: ENSMUSG00000057723
AA Change: C86F

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1c20	C	T	13: 4,562,682 (GRCm39)	R90H	possibly damaging	Het
BC048679	A	T	7: 81,144,937 (GRCm39)		probably benign	Het
Chd6	T	C	2: 160,832,221 (GRCm39)	R984G	probably damaging	Het
Cobl	A	G	11: 12,203,285 (GRCm39)	I1139T	possibly damaging	Het
Coq3	A	G	4: 21,900,273 (GRCm39)	R167G	probably damaging	Het
Crim1	A	G	17: 78,658,130 (GRCm39)	K670E	possibly damaging	Het
Crtac1	T	C	19: 42,322,350 (GRCm39)	E130G	probably damaging	Het
Dcbld1	A	G	10: 52,196,069 (GRCm39)	T426A	probably benign	Het
Dimt1	T	C	13: 107,084,175 (GRCm39)		probably benign	Het
Dnal1	G	A	12: 84,178,166 (GRCm39)		probably null	Het
Fes	T	C	7: 80,029,589 (GRCm39)	Y631C	probably damaging	Het
Hemk1	A	T	9: 107,208,750 (GRCm39)	V149E	probably benign	Het
Itga6	T	C	2: 71,657,076 (GRCm39)	V397A	probably damaging	Het
Kmt2c	A	T	5: 25,520,026 (GRCm39)	L2028*	probably null	Het
Lmx1a	A	G	1: 167,618,943 (GRCm39)	I101V	probably benign	Het
Mlh1	A	G	9: 111,100,582 (GRCm39)	V4A	probably benign	Het
Mroh2b	A	G	15: 4,944,718 (GRCm39)	I440V	possibly damaging	Het
Mrpl35	A	G	6: 71,795,804 (GRCm39)	Y28H	probably benign	Het
Oas3	C	A	5: 120,902,387 (GRCm39)	E636D	unknown	Het
Olfm4	T	A	14: 80,259,113 (GRCm39)	S454T	probably damaging	Het
Or4l15	T	A	14: 50,197,590 (GRCm39)		probably benign	Het
Or52ab2	T	C	7: 102,970,140 (GRCm39)	I174T	probably benign	Het
Otoa	G	T	7: 120,717,878 (GRCm39)	G365V	possibly damaging	Het
Pdgfrl	G	T	8: 41,430,005 (GRCm39)	R124L	probably damaging	Het
Rcbtb2	T	A	14: 73,411,851 (GRCm39)	V380E	probably damaging	Het
Rufy2	A	G	10: 62,836,106 (GRCm39)	D345G	probably damaging	Het
Shq1	A	T	6: 100,607,945 (GRCm39)	I322N	probably damaging	Het
Skint4	C	A	4: 111,944,200 (GRCm39)	T4K	possibly damaging	Het
Stxbp2	A	T	8: 3,691,971 (GRCm39)	I538F	probably benign	Het
Tbc1d5	A	G	17: 51,107,149 (GRCm39)	I469T	probably damaging	Het
Thoc3	T	C	13: 54,607,988 (GRCm39)	R319G	probably benign	Het
Tmem63a	A	G	1: 180,793,348 (GRCm39)	I507M	probably damaging	Het
Usp40	A	T	1: 87,923,458 (GRCm39)	I271N	probably damaging	Het
Vps13d	T	C	4: 144,858,335 (GRCm39)	D2157G	possibly damaging	Het
Vwa8	T	A	14: 79,231,899 (GRCm39)	V586D	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
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

2015-12-18