Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02582:Klhl23'

299394

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Klhl23

Ensembl Gene

ENSMUSG00000042155

Gene Name

kelch-like 23

Synonyms

C130068N17Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.111) question?

Stock #

IGL02582

Quality Score

Status

Chromosome

Chromosomal Location

69652288-69666995 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 69654582 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 151 (C151S)

Ref Sequence

ENSEMBL: ENSMUSP00000050219 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053087]

AlphaFold

Q6GQU2

Predicted Effect

probably damaging
Transcript: ENSMUST00000053087
AA Change: C151S

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

SMART Domains

Protein: ENSMUSP00000050219
Gene: ENSMUSG00000042155
AA Change: C151S

Domain	Start	End	E-Value	Type
BTB	36	134	8.34e-27	SMART
BACK	139	240	8.51e-23	SMART
Kelch	274	319	5.19e0	SMART
Kelch	321	369	5.85e-10	SMART
Kelch	370	416	7.78e-6	SMART
Kelch	417	466	2.11e-1	SMART
Kelch	467	508	3.8e-9	SMART
Kelch	509	557	2.25e-11	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135759

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152898

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acat1	T	A	9: 53,506,045 (GRCm39)	I92F	probably benign	Het
Actr3b	A	G	5: 26,037,411 (GRCm39)	I208V	probably benign	Het
Car12	T	C	9: 66,621,159 (GRCm39)	V10A	probably benign	Het
Ccdc171	C	A	4: 83,661,255 (GRCm39)	R1122S	probably damaging	Het
Cep97	A	G	16: 55,742,539 (GRCm39)	V136A	probably damaging	Het
Cilp2	G	T	8: 70,333,936 (GRCm39)	Q1021K	probably damaging	Het
Col24a1	C	A	3: 145,020,247 (GRCm39)	T206N	probably damaging	Het
Crebbp	A	T	16: 3,902,141 (GRCm39)	I2328K	possibly damaging	Het
Ctns	A	G	11: 73,087,478 (GRCm39)	F16S	probably benign	Het
Dbf4	T	C	5: 8,453,172 (GRCm39)	K276E	probably benign	Het
Dnase2b	T	A	3: 146,294,840 (GRCm39)	Q118L	probably benign	Het
Elf1	T	C	14: 79,773,819 (GRCm39)	L10P	probably damaging	Het
Exosc5	T	C	7: 25,364,988 (GRCm39)		probably null	Het
Fam163b	C	T	2: 27,003,570 (GRCm39)	C28Y	probably damaging	Het
Fam180a	G	T	6: 35,290,647 (GRCm39)	A112E	possibly damaging	Het
Fam3b	A	T	16: 97,272,391 (GRCm39)	Y89*	probably null	Het
Gcg	C	T	2: 62,308,922 (GRCm39)	W77*	probably null	Het
Gm17472	G	A	6: 42,957,832 (GRCm39)	V34I	possibly damaging	Het
Mdh1b	T	A	1: 63,758,756 (GRCm39)	I279F	probably benign	Het
Mfsd11	T	A	11: 116,764,701 (GRCm39)	I375N	probably damaging	Het
Mroh2b	T	A	15: 4,937,997 (GRCm39)	I206N	probably damaging	Het
Myo1b	T	C	1: 51,821,133 (GRCm39)	E456G	possibly damaging	Het
Nat8	G	A	6: 85,807,783 (GRCm39)	Q117*	probably null	Het
Nlrp4g	A	C	9: 124,349,764 (GRCm38)		noncoding transcript	Het
Nmt1	G	T	11: 102,955,625 (GRCm39)	G468C	possibly damaging	Het
Nobox	G	T	6: 43,281,973 (GRCm39)	Q367K	possibly damaging	Het
Nusap1	A	G	2: 119,479,470 (GRCm39)	*428W	probably null	Het
Or12j4	T	C	7: 140,046,560 (GRCm39)	F149L	probably benign	Het
Or4c126	G	A	2: 89,824,656 (GRCm39)	M306I	probably benign	Het
Pbp2	T	C	6: 135,287,147 (GRCm39)	I67V	probably benign	Het
Pcdhb8	T	G	18: 37,488,427 (GRCm39)	M35R	possibly damaging	Het
Pkp1	T	C	1: 135,817,664 (GRCm39)	E157G	probably damaging	Het
Pomgnt1	C	T	4: 116,015,747 (GRCm39)	L560F	probably damaging	Het
Prkcz	T	C	4: 155,355,713 (GRCm39)	T227A	probably damaging	Het
Ptprd	T	A	4: 75,865,361 (GRCm39)	R1446S	probably damaging	Het
Ptprq	T	C	10: 107,479,860 (GRCm39)	T1137A	probably benign	Het
Sec22c	T	C	9: 121,514,630 (GRCm39)	I153V	probably benign	Het
Slc30a5	C	T	13: 100,949,155 (GRCm39)		probably null	Het
Smcr8	T	C	11: 60,669,721 (GRCm39)	S290P	probably benign	Het
Stambpl1	T	G	19: 34,212,612 (GRCm39)	L261V	probably benign	Het
Stk38l	T	C	6: 146,668,321 (GRCm39)		probably null	Het
Themis	T	C	10: 28,637,543 (GRCm39)	F216L	probably benign	Het
Trmt1l	T	C	1: 151,309,536 (GRCm39)		probably benign	Het
Usp17lb	C	A	7: 104,489,937 (GRCm39)	C330F	probably damaging	Het
Vmn2r120	A	T	17: 57,831,724 (GRCm39)	L355H	probably damaging	Het
Zc3h7b	T	A	15: 81,653,341 (GRCm39)	C82S	probably benign	Het

Other mutations in Klhl23

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02637:Klhl23	APN	2	69,659,258 (GRCm39)	nonsense	probably null
R0128:Klhl23	UTSW	2	69,664,310 (GRCm39)	missense	probably damaging	0.97
R0130:Klhl23	UTSW	2	69,664,310 (GRCm39)	missense	probably damaging	0.97
R0333:Klhl23	UTSW	2	69,664,241 (GRCm39)	missense	probably damaging	1.00
R0538:Klhl23	UTSW	2	69,654,757 (GRCm39)	missense	probably benign	0.01
R1466:Klhl23	UTSW	2	69,664,232 (GRCm39)	missense	probably damaging	1.00
R1466:Klhl23	UTSW	2	69,664,232 (GRCm39)	missense	probably damaging	1.00
R1584:Klhl23	UTSW	2	69,664,232 (GRCm39)	missense	probably damaging	1.00
R1970:Klhl23	UTSW	2	69,664,030 (GRCm39)	missense	probably damaging	1.00
R2102:Klhl23	UTSW	2	69,659,228 (GRCm39)	missense	probably damaging	1.00
R4236:Klhl23	UTSW	2	69,654,516 (GRCm39)	missense	probably damaging	0.98
R4473:Klhl23	UTSW	2	69,654,151 (GRCm39)	missense	possibly damaging	0.67
R5446:Klhl23	UTSW	2	69,654,582 (GRCm39)	missense	probably damaging	1.00
R5852:Klhl23	UTSW	2	69,654,613 (GRCm39)	missense	probably benign	0.44
R6143:Klhl23	UTSW	2	69,664,040 (GRCm39)	missense	possibly damaging	0.65
R6151:Klhl23	UTSW	2	69,655,198 (GRCm39)	missense	probably damaging	0.99
R6277:Klhl23	UTSW	2	69,664,096 (GRCm39)	missense	probably damaging	1.00
R7030:Klhl23	UTSW	2	69,664,310 (GRCm39)	missense	probably damaging	1.00
R7303:Klhl23	UTSW	2	69,655,045 (GRCm39)	missense	probably benign	0.42
R7724:Klhl23	UTSW	2	69,655,056 (GRCm39)	missense	probably benign	0.00
R8330:Klhl23	UTSW	2	69,654,496 (GRCm39)	missense	probably damaging	0.98
R8913:Klhl23	UTSW	2	69,664,234 (GRCm39)	missense	probably damaging	1.00
R9067:Klhl23	UTSW	2	69,664,083 (GRCm39)	missense	possibly damaging	0.94
R9720:Klhl23	UTSW	2	69,654,804 (GRCm39)	missense	possibly damaging	0.78
X0066:Klhl23	UTSW	2	69,654,132 (GRCm39)	start codon destroyed	possibly damaging	0.75

Posted On

2015-04-16