Mutagenetix > Incidental Mutation

Incidental Mutation 'R5342:Klhl42'

422382

Institutional Source

Beutler Lab

Gene Symbol

Klhl42

Ensembl Gene

ENSMUSG00000040102

Gene Name

kelch-like 42

Synonyms

Klhdc5, C230080I20Rik

MMRRC Submission

042921-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5342 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

146992877-147014276 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 146993784 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 252 (T252I)

Ref Sequence

ENSEMBL: ENSMUSP00000042558 (fasta)

Gene Model

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

AlphaFold

Q8BFQ9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000036003
AA Change: T252I

PolyPhen 2 Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000042558
Gene: ENSMUSG00000040102
AA Change: T252I

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

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 96.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adrb3	A	C	8: 27,716,809 (GRCm39)	Y392*	probably null	Het
Arap1	G	A	7: 101,054,167 (GRCm39)	E1330K	probably benign	Het
Atg2b	G	T	12: 105,625,175 (GRCm39)	D600E	possibly damaging	Het
Atp1b2	C	T	11: 69,493,654 (GRCm39)	V142I	probably damaging	Het
AW551984	A	T	9: 39,505,847 (GRCm39)	M450K	probably damaging	Het
Bcar3	A	G	3: 122,220,298 (GRCm39)	D65G	probably damaging	Het
Ccnt2	T	C	1: 127,719,470 (GRCm39)		silent	Het
Cdca7l	A	G	12: 117,840,768 (GRCm39)	Y430C	probably damaging	Het
Ces4a	A	G	8: 105,872,775 (GRCm39)	T343A	probably benign	Het
Clec2g	C	T	6: 128,925,714 (GRCm39)	A41V	probably benign	Het
Crybg3	A	T	16: 59,342,512 (GRCm39)	Y2708N	probably damaging	Het
Cspg4b	T	C	13: 113,502,803 (GRCm39)		probably null	Het
Dmxl1	A	T	18: 50,084,302 (GRCm39)	E2758V	probably damaging	Het
Eci2	C	T	13: 35,162,707 (GRCm39)	E283K	probably benign	Het
Edrf1	T	A	7: 133,253,639 (GRCm39)		probably null	Het
Eif3b	T	C	5: 140,411,035 (GRCm39)	L162P	probably damaging	Het
Ercc3	A	G	18: 32,378,648 (GRCm39)	I210V	probably benign	Het
Exoc1	A	G	5: 76,714,861 (GRCm39)	N739S	probably damaging	Het
Gm7334	A	G	17: 51,005,782 (GRCm39)	K23E	probably benign	Het
Gm7356	T	G	17: 14,221,360 (GRCm39)	D223A	possibly damaging	Het
Klhl26	A	G	8: 70,908,215 (GRCm39)	L47P	probably damaging	Het
Morc1	G	T	16: 48,438,872 (GRCm39)	G756W	probably damaging	Het
Mroh2b	G	T	15: 4,943,615 (GRCm39)	E384*	probably null	Het
Nol10	G	A	12: 17,419,621 (GRCm39)		probably null	Het
Nxpe5	T	C	5: 138,237,503 (GRCm39)	L9P	probably damaging	Het
Or2r3	A	G	6: 42,448,836 (GRCm39)	I92T	probably damaging	Het
Or52z12	C	T	7: 103,234,035 (GRCm39)	R269C	probably benign	Het
Or7e166	A	G	9: 19,624,333 (GRCm39)	D70G	probably damaging	Het
Pak2	T	C	16: 31,863,306 (GRCm39)	E94G	probably damaging	Het
Pcdha7	A	G	18: 37,107,724 (GRCm39)	K250E	possibly damaging	Het
Pde8b	T	C	13: 95,178,498 (GRCm39)	T541A	probably damaging	Het
Peg3	A	T	7: 6,712,969 (GRCm39)	I751N	probably damaging	Het
Prpsap2	T	C	11: 61,622,396 (GRCm39)	D269G	probably damaging	Het
Raver2	C	A	4: 100,959,889 (GRCm39)	T123K	possibly damaging	Het
Rpgrip1	G	A	14: 52,382,666 (GRCm39)	D600N	possibly damaging	Het
Scn2b	A	G	9: 45,036,816 (GRCm39)	Y108C	probably damaging	Het
Sdr16c6	T	C	4: 4,069,923 (GRCm39)	E139G	probably damaging	Het
Sgpp2	A	G	1: 78,336,825 (GRCm39)	I68V	probably benign	Het
Sorbs2	T	A	8: 46,249,050 (GRCm39)	I687N	probably damaging	Het
Sorcs3	G	A	19: 48,784,911 (GRCm39)		probably null	Het
Stk16	T	A	1: 75,189,609 (GRCm39)	C174S	probably benign	Het
Styxl2	T	C	1: 165,937,819 (GRCm39)	E80G	probably benign	Het
Ttll9	C	A	2: 152,833,572 (GRCm39)	N198K	possibly damaging	Het
Unc13c	A	T	9: 73,838,105 (GRCm39)	D915E	probably benign	Het
Unc5b	T	A	10: 60,614,046 (GRCm39)	K268*	probably null	Het
Vim	T	A	2: 13,584,824 (GRCm39)		probably null	Het
Xirp2	T	A	2: 67,343,805 (GRCm39)	N2015K	probably damaging	Het
Zfp160	T	G	17: 21,240,995 (GRCm39)	M21R	possibly damaging	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
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
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

Predicted Primers

PCR Primer
(F):5'- GCAATTCCCGCTACTGTTG -3'
(R):5'- TTCTTCCTAGCAAGCCCTGG -3'

Sequencing Primer
(F):5'- GGGACTGCAGCCTGAAG -3'
(R):5'- TGGGCTCCCTGGGAACTC -3'

Posted On

2016-08-04