Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01401:Klhl42'

79635

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 #

IGL01401

Quality Score

Status

Chromosome

Chromosomal Location

146992877-147014276 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 147009241 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 360 (T360M)

Ref Sequence

ENSEMBL: ENSMUSP00000042558 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036003] [ENSMUST00000203441]

AlphaFold

Q8BFQ9

Predicted Effect

probably benign
Transcript: ENSMUST00000036003
AA Change: T360M

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000042558
Gene: ENSMUSG00000040102
AA Change: T360M

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

probably benign
Transcript: ENSMUST00000203441

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
Adgrl3	T	C	5: 81,836,516 (GRCm39)	V758A	possibly damaging	Het
Arf4	T	C	14: 26,359,609 (GRCm39)	L12P	probably damaging	Het
Bltp1	A	G	3: 36,996,441 (GRCm39)	N1051S	probably benign	Het
C4bp	A	T	1: 130,575,801 (GRCm39)	V230E	possibly damaging	Het
Carm1	T	A	9: 21,480,878 (GRCm39)		probably null	Het
Cd4	G	A	6: 124,856,341 (GRCm39)	T50I	probably benign	Het
Ceacam16	T	C	7: 19,595,054 (GRCm39)	Y8C	probably benign	Het
Ckap2l	A	T	2: 129,111,136 (GRCm39)	V687E	probably damaging	Het
Dcaf4	A	G	12: 83,588,148 (GRCm39)	D449G	probably damaging	Het
Dhx38	T	C	8: 110,278,746 (GRCm39)	Y1113C	probably benign	Het
Fry	A	G	5: 150,362,253 (GRCm39)	I161V	probably benign	Het
Gm17093	A	C	14: 44,758,984 (GRCm39)	M169L	unknown	Het
Gm20721	A	G	2: 174,187,295 (GRCm39)	D999G	probably damaging	Het
Grin2b	T	C	6: 135,713,361 (GRCm39)	H840R	probably damaging	Het
Hoxc12	C	A	15: 102,845,755 (GRCm39)	H156Q	probably benign	Het
Htr3b	T	C	9: 48,858,934 (GRCm39)	D68G	probably damaging	Het
Inpp5b	T	C	4: 124,639,880 (GRCm39)	V99A	probably damaging	Het
Lmo7	C	T	14: 102,031,713 (GRCm39)	R36*	probably null	Het
Lmod3	T	G	6: 97,229,513 (GRCm39)	N7T	probably damaging	Het
Malrd1	G	A	2: 16,106,768 (GRCm39)		probably null	Het
Mthfd2l	T	A	5: 91,148,425 (GRCm39)	I284K	possibly damaging	Het
Myo1e	T	A	9: 70,234,448 (GRCm39)	I267N	probably damaging	Het
Or13c7d	T	C	4: 43,770,112 (GRCm39)	R300G	probably damaging	Het
Or2y1g	T	A	11: 49,171,314 (GRCm39)	V113E	possibly damaging	Het
Prkce	T	C	17: 86,476,268 (GRCm39)	V83A	probably damaging	Het
Pxdn	G	T	12: 30,051,983 (GRCm39)	C540F	probably damaging	Het
Resf1	A	G	6: 149,228,394 (GRCm39)	E480G	probably damaging	Het
Ryr2	T	A	13: 11,606,238 (GRCm39)	E4448V	possibly damaging	Het
Scn1a	A	T	2: 66,119,455 (GRCm39)	N1349K	probably damaging	Het
Smarcc1	T	C	9: 109,979,033 (GRCm39)	I172T	possibly damaging	Het
Syt16	T	C	12: 74,269,437 (GRCm39)	V92A	possibly damaging	Het
Tenm4	A	G	7: 96,523,474 (GRCm39)	Y1672C	probably damaging	Het
Tmem131	A	G	1: 36,838,468 (GRCm39)	Y1486H	probably damaging	Het
Tmem132a	A	G	19: 10,838,888 (GRCm39)		probably benign	Het
Usp40	A	T	1: 87,921,920 (GRCm39)	D314E	probably damaging	Het
Vmn2r79	G	A	7: 86,686,481 (GRCm39)	V621I	probably benign	Het
Wnk4	A	G	11: 101,167,509 (GRCm39)		probably benign	Het
Wwc1	C	A	11: 35,789,445 (GRCm39)		probably null	Het

Other mutations in Klhl42

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00339:Klhl42	APN	6	147,003,231 (GRCm39)	missense	probably damaging	1.00
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

2013-11-05