Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00339:Klhl42'

6320

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Klhl42

Ensembl Gene

ENSMUSG00000040102

Gene Name

kelch-like 42

Synonyms

Klhdc5, C230080I20Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00339

Quality Score

Status

Chromosome

Chromosomal Location

146992877-147014276 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 147003231 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 335 (Y335C)

Ref Sequence

ENSEMBL: ENSMUSP00000042558 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036003]

AlphaFold

Q8BFQ9

Predicted Effect

probably damaging
Transcript: ENSMUST00000036003
AA Change: Y335C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000042558
Gene: ENSMUSG00000040102
AA Change: Y335C

Domain	Start	End	E-Value	Type
BTB	5	145	1.14e-1	SMART
low complexity region	151	164	N/A	INTRINSIC
Kelch	242	289	1.79e-5	SMART
Kelch	290	332	1.25e-9	SMART
Kelch	333	379	1.56e1	SMART
Blast:Kelch	380	437	3e-31	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203866

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	A	G	12: 71,213,893 (GRCm39)	M707V	probably benign	Het
Amz2	A	T	11: 109,324,847 (GRCm39)	I244F	probably damaging	Het
Atp4a	T	C	7: 30,412,629 (GRCm39)	C112R	possibly damaging	Het
Axin2	A	G	11: 108,814,816 (GRCm39)	T235A	probably benign	Het
Barhl2	C	T	5: 106,603,365 (GRCm39)	A265T	possibly damaging	Het
Brd8	C	A	18: 34,742,936 (GRCm39)	G310*	probably null	Het
Capn11	A	T	17: 45,954,693 (GRCm39)	I148N	probably damaging	Het
Caskin2	A	G	11: 115,694,425 (GRCm39)	L392P	probably benign	Het
Cep72	C	T	13: 74,210,387 (GRCm39)		probably benign	Het
Chst11	A	G	10: 83,027,467 (GRCm39)	Y298C	possibly damaging	Het
Cyp21a1	C	T	17: 35,023,108 (GRCm39)		probably null	Het
F830045P16Rik	T	C	2: 129,302,449 (GRCm39)	D381G	probably damaging	Het
Fnip2	T	G	3: 79,422,462 (GRCm39)	H106P	probably benign	Het
Fosl1	T	A	19: 5,500,330 (GRCm39)	I83K	probably damaging	Het
Foxk2	C	T	11: 121,190,560 (GRCm39)	T567M	probably damaging	Het
Frmd4a	A	G	2: 4,599,525 (GRCm39)	N208S	probably benign	Het
Gm4553	T	C	7: 141,718,964 (GRCm39)	S155G	unknown	Het
Heatr5a	A	T	12: 51,935,684 (GRCm39)	I1634N	probably damaging	Het
Hspg2	C	T	4: 137,266,506 (GRCm39)	T1889M	probably damaging	Het
Kcnh6	C	T	11: 105,909,845 (GRCm39)	P457S	probably damaging	Het
Kcnk18	G	T	19: 59,223,502 (GRCm39)	A216S	probably benign	Het
Lrguk	C	T	6: 34,020,364 (GRCm39)	P36L	probably damaging	Het
Mmp1b	T	A	9: 7,368,304 (GRCm39)	R443S	probably benign	Het
Ncapd3	T	C	9: 26,963,649 (GRCm39)	S501P	probably benign	Het
Neurl4	C	T	11: 69,795,413 (GRCm39)	R422W	probably damaging	Het
Nol4	T	C	18: 22,956,469 (GRCm39)	S311G	probably benign	Het
Oaf	T	C	9: 43,135,313 (GRCm39)	D155G	probably damaging	Het
Oas1g	T	A	5: 121,024,109 (GRCm39)	K67*	probably null	Het
Or1l4	T	C	2: 37,091,609 (GRCm39)	S119P	probably damaging	Het
Or2a20	T	G	6: 43,194,782 (GRCm39)	L312V	probably benign	Het
Rims2	C	A	15: 39,323,011 (GRCm39)	T735K	probably benign	Het
Sema4f	T	C	6: 82,914,155 (GRCm39)	T68A	probably benign	Het
Snx19	T	G	9: 30,340,380 (GRCm39)	V506G	possibly damaging	Het
Sp140	T	A	1: 85,569,543 (GRCm39)	C107*	probably null	Het
Sspo	G	A	6: 48,460,680 (GRCm39)		probably benign	Het
Syce1l	T	G	8: 114,376,134 (GRCm39)	L28R	probably damaging	Het
Tgm3	G	A	2: 129,880,333 (GRCm39)	V380M	probably damaging	Het
Unc5a	T	A	13: 55,143,628 (GRCm39)	V104D	possibly damaging	Het

Other mutations in Klhl42

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01401:Klhl42	APN	6	147,009,241 (GRCm39)	missense	probably benign	0.03
IGL02590:Klhl42	APN	6	146,993,810 (GRCm39)	missense	probably damaging	0.97
R0045:Klhl42	UTSW	6	146,993,666 (GRCm39)	missense	probably benign
R1066:Klhl42	UTSW	6	147,009,397 (GRCm39)	missense	probably benign
R1920:Klhl42	UTSW	6	147,009,427 (GRCm39)	missense	probably damaging	1.00
R1951:Klhl42	UTSW	6	146,993,321 (GRCm39)	missense	probably damaging	0.99
R2017:Klhl42	UTSW	6	147,009,291 (GRCm39)	missense	probably benign	0.04
R2021:Klhl42	UTSW	6	146,993,394 (GRCm39)	missense	possibly damaging	0.59
R2065:Klhl42	UTSW	6	147,003,161 (GRCm39)	missense	probably damaging	1.00
R2128:Klhl42	UTSW	6	147,003,251 (GRCm39)	missense	probably benign	0.00
R2982:Klhl42	UTSW	6	146,993,114 (GRCm39)	missense	probably damaging	1.00
R3415:Klhl42	UTSW	6	147,009,378 (GRCm39)	missense	probably damaging	1.00
R3416:Klhl42	UTSW	6	147,009,378 (GRCm39)	missense	probably damaging	1.00
R3417:Klhl42	UTSW	6	147,009,378 (GRCm39)	missense	probably damaging	1.00
R4450:Klhl42	UTSW	6	146,993,169 (GRCm39)	missense	probably benign	0.16
R4967:Klhl42	UTSW	6	147,009,502 (GRCm39)	missense	possibly damaging	0.77
R5342:Klhl42	UTSW	6	146,993,784 (GRCm39)	missense	possibly damaging	0.86
R5556:Klhl42	UTSW	6	147,009,610 (GRCm39)	missense	probably benign	0.00
R6269:Klhl42	UTSW	6	146,993,805 (GRCm39)	missense	probably damaging	1.00
R7375:Klhl42	UTSW	6	146,993,538 (GRCm39)	missense	probably benign
R7769:Klhl42	UTSW	6	146,993,358 (GRCm39)	missense	possibly damaging	0.95
R7848:Klhl42	UTSW	6	147,009,598 (GRCm39)	missense	probably damaging	1.00
R8353:Klhl42	UTSW	6	147,009,421 (GRCm39)	missense	probably damaging	0.97
R8466:Klhl42	UTSW	6	147,009,241 (GRCm39)	missense	probably benign	0.03
R9615:Klhl42	UTSW	6	147,009,373 (GRCm39)	missense	probably damaging	1.00

Posted On

2012-04-20