Mutagenetix > Incidental Mutation

Incidental Mutation 'R6039:Klhl32'

479348

Institutional Source

Beutler Lab

Gene Symbol

Klhl32

Ensembl Gene

ENSMUSG00000040387

Gene Name

kelch-like 32

Synonyms

6430524H05Rik, D4Ertd389e, LOC384000

MMRRC Submission

043259-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

R6039 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

24612554-24851124 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 24792615 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000103853 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084781] [ENSMUST00000108214] [ENSMUST00000108218] [ENSMUST00000140652]

AlphaFold

A2AJX0

Predicted Effect

probably null
Transcript: ENSMUST00000084781

SMART Domains

Protein: ENSMUSP00000081839
Gene: ENSMUSG00000040387

Domain	Start	End	E-Value	Type
BTB	42	138	1.28e-22	SMART
BACK	111	212	3.17e-22	SMART
Kelch	257	313	4.07e-1	SMART
Kelch	314	365	3.57e-1	SMART
Kelch	366	413	3.77e-4	SMART
Kelch	414	461	7.04e-4	SMART
Kelch	462	514	6.47e-3	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000108213

Predicted Effect

probably null
Transcript: ENSMUST00000108214

SMART Domains

Protein: ENSMUSP00000103849
Gene: ENSMUSG00000040387

Domain	Start	End	E-Value	Type
BTB	42	139	2.86e-25	SMART
BACK	144	225	3.31e-2	SMART
Blast:Kelch	233	285	1e-31	BLAST

Predicted Effect

probably null
Transcript: ENSMUST00000108218

SMART Domains

Protein: ENSMUSP00000103853
Gene: ENSMUSG00000040387

Domain	Start	End	E-Value	Type
BTB	42	139	2.86e-25	SMART
BACK	144	245	3.17e-22	SMART
Kelch	290	346	4.07e-1	SMART
Kelch	347	398	3.57e-1	SMART
Kelch	399	446	3.77e-4	SMART
Kelch	447	494	7.04e-4	SMART
Kelch	495	547	6.47e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000140652

SMART Domains

Protein: ENSMUSP00000137312
Gene: ENSMUSG00000040387

Domain	Start	End	E-Value	Type
BTB	42	139	2.14e-24	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142373

Coding Region Coverage

1x: 99.8%
3x: 98.9%
10x: 92.2%
20x: 71.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts9	C	T	6: 92,885,527 (GRCm39)	R416Q	possibly damaging	Het
Adgre1	C	A	17: 57,713,859 (GRCm39)	D181E	probably benign	Het
Arhgap24	T	C	5: 103,028,652 (GRCm39)	S183P	probably damaging	Het
Asb1	T	C	1: 91,474,748 (GRCm39)	L90P	probably damaging	Het
Bmp3	T	C	5: 99,020,209 (GRCm39)	F211L	probably benign	Het
C8a	A	G	4: 104,703,139 (GRCm39)	I306T	probably benign	Het
Cdkn3	G	A	14: 47,007,373 (GRCm39)	G177R	probably damaging	Het
Chat	A	G	14: 32,170,984 (GRCm39)	S172P	probably damaging	Het
Chd5	CAAGAAGAAGAAGAAGAA	CAAGAAGAAGAAGAA	4: 152,438,078 (GRCm39)		probably benign	Het
Cyp4a12a	T	C	4: 115,184,420 (GRCm39)	I265T	probably damaging	Het
Dlst	T	A	12: 85,165,664 (GRCm39)		probably null	Het
Dnmt1	A	T	9: 20,837,716 (GRCm39)		probably benign	Het
Fbn1	C	T	2: 125,205,800 (GRCm39)	E1066K	probably damaging	Het
Fetub	C	T	16: 22,751,081 (GRCm39)	R143C	probably damaging	Het
Fstl1	T	A	16: 37,641,538 (GRCm39)	S105T	probably benign	Het
Gm19410	C	G	8: 36,276,518 (GRCm39)	A1725G	probably benign	Het
Hspb7	A	G	4: 141,151,215 (GRCm39)	N119S	probably damaging	Het
Il20	T	A	1: 130,838,478 (GRCm39)	D73V	possibly damaging	Het
Insrr	T	C	3: 87,716,608 (GRCm39)	I612T	possibly damaging	Het
Kcnma1	T	C	14: 23,359,105 (GRCm39)	Y1107C	probably benign	Het
Krt77	C	A	15: 101,769,351 (GRCm39)	R470L	possibly damaging	Het
Muc1	T	C	3: 89,139,336 (GRCm39)	Y579H	probably damaging	Het
Myof	T	C	19: 37,966,132 (GRCm39)	D396G	probably damaging	Het
Myom1	T	G	17: 71,417,746 (GRCm39)	D1316E	probably damaging	Het
Nbea	T	C	3: 55,912,538 (GRCm39)	E1083G	probably benign	Het
Nek9	G	A	12: 85,359,859 (GRCm39)	A531V	probably benign	Het
Nlrp12	A	T	7: 3,290,002 (GRCm39)	I170N	possibly damaging	Het
Nup98	A	G	7: 101,784,002 (GRCm39)	I1093T	probably benign	Het
Ovch2	G	A	7: 107,388,318 (GRCm39)	L421F	probably damaging	Het
Paqr4	T	C	17: 23,958,968 (GRCm39)	D11G	probably damaging	Het
Parp8	A	G	13: 117,014,134 (GRCm39)	S561P	probably damaging	Het
Pcgf5	T	A	19: 36,420,306 (GRCm39)	F179L	probably damaging	Het
Pde4d	A	T	13: 110,084,876 (GRCm39)	Q422L	probably damaging	Het
Pigs	T	A	11: 78,232,651 (GRCm39)	V495E	probably damaging	Het
Polh	C	T	17: 46,498,959 (GRCm39)	R252H	probably benign	Het
Psg28	T	C	7: 18,160,107 (GRCm39)	D363G	possibly damaging	Het
Ptgir	A	T	7: 16,640,815 (GRCm39)	I36F	possibly damaging	Het
Ptprr	G	A	10: 116,072,668 (GRCm39)		probably null	Het
Rax	C	T	18: 66,068,418 (GRCm39)	G229D	unknown	Het
Secisbp2l	T	A	2: 125,615,136 (GRCm39)	H163L	probably benign	Het
Sf3a2	A	G	10: 80,637,297 (GRCm39)	Y45C	probably damaging	Het
Sgo2a	C	T	1: 58,055,775 (GRCm39)	T653I	possibly damaging	Het
Slc38a9	A	T	13: 112,806,231 (GRCm39)	I26F	probably damaging	Het
Slc5a8	A	G	10: 88,722,436 (GRCm39)	I90V	probably benign	Het
Slx4	G	A	16: 3,803,911 (GRCm39)	H968Y	possibly damaging	Het
Stam2	T	C	2: 52,599,611 (GRCm39)	T233A	probably benign	Het
Tln1	G	C	4: 43,555,052 (GRCm39)	F259L	probably damaging	Het
Trav4-2	G	A	14: 53,655,866 (GRCm39)	V8M	possibly damaging	Het
Ttll5	T	A	12: 85,878,729 (GRCm39)	H45Q	probably damaging	Het
Ttn	C	T	2: 76,714,762 (GRCm39)		probably benign	Het
Ush2a	T	A	1: 188,051,217 (GRCm39)	F234L	possibly damaging	Het
Vmn2r74	T	A	7: 85,607,526 (GRCm39)		probably null	Het
Wdr6	CTG	C	9: 108,450,994 (GRCm39)		probably null	Het
Zfp644	A	G	5: 106,783,291 (GRCm39)	S997P	possibly damaging	Het
Zfp853	G	A	5: 143,274,529 (GRCm39)	Q364*	probably null	Het

Other mutations in Klhl32

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00978:Klhl32	APN	4	24,682,245 (GRCm39)	missense	probably damaging	1.00
IGL02293:Klhl32	APN	4	24,626,935 (GRCm39)	missense	probably damaging	1.00
IGL02374:Klhl32	APN	4	24,743,856 (GRCm39)	critical splice donor site	probably null
IGL02824:Klhl32	APN	4	24,682,237 (GRCm39)	nonsense	probably null
IGL03211:Klhl32	APN	4	24,792,616 (GRCm39)	critical splice donor site	probably null
IGL03374:Klhl32	APN	4	24,649,533 (GRCm39)	intron	probably benign
R0071:Klhl32	UTSW	4	24,743,907 (GRCm39)	missense	probably damaging	0.98
R0478:Klhl32	UTSW	4	24,792,777 (GRCm39)	missense	probably damaging	1.00
R0856:Klhl32	UTSW	4	24,682,092 (GRCm39)	missense	probably damaging	1.00
R0908:Klhl32	UTSW	4	24,682,092 (GRCm39)	missense	probably damaging	1.00
R1882:Klhl32	UTSW	4	24,743,916 (GRCm39)	nonsense	probably null
R1927:Klhl32	UTSW	4	24,617,474 (GRCm39)	missense	probably benign	0.00
R2137:Klhl32	UTSW	4	24,629,275 (GRCm39)	nonsense	probably null
R3176:Klhl32	UTSW	4	24,682,063 (GRCm39)	missense	probably benign	0.39
R3276:Klhl32	UTSW	4	24,682,063 (GRCm39)	missense	probably benign	0.39
R4059:Klhl32	UTSW	4	24,792,781 (GRCm39)	missense	probably damaging	1.00
R4246:Klhl32	UTSW	4	24,800,822 (GRCm39)	missense	possibly damaging	0.50
R4597:Klhl32	UTSW	4	24,629,339 (GRCm39)	missense	probably benign	0.21
R4801:Klhl32	UTSW	4	24,649,698 (GRCm39)	missense	possibly damaging	0.82
R4802:Klhl32	UTSW	4	24,649,698 (GRCm39)	missense	possibly damaging	0.82
R4929:Klhl32	UTSW	4	24,709,030 (GRCm39)	missense	probably damaging	1.00
R5654:Klhl32	UTSW	4	24,800,805 (GRCm39)	critical splice donor site	probably null
R6039:Klhl32	UTSW	4	24,792,615 (GRCm39)	critical splice donor site	probably null
R6362:Klhl32	UTSW	4	24,629,195 (GRCm39)	missense	probably null	1.00
R6490:Klhl32	UTSW	4	24,711,578 (GRCm39)	intron	probably benign
R6948:Klhl32	UTSW	4	24,629,250 (GRCm39)	missense	probably benign	0.00
R6981:Klhl32	UTSW	4	24,709,030 (GRCm39)	missense	probably damaging	1.00
R8268:Klhl32	UTSW	4	24,800,843 (GRCm39)	start gained	probably benign
R8379:Klhl32	UTSW	4	24,629,194 (GRCm39)	missense	probably damaging	1.00
R8419:Klhl32	UTSW	4	24,682,203 (GRCm39)	missense	possibly damaging	0.93
R8553:Klhl32	UTSW	4	24,629,343 (GRCm39)	missense	probably benign	0.01
R9257:Klhl32	UTSW	4	24,649,608 (GRCm39)	missense	probably benign	0.00
R9460:Klhl32	UTSW	4	24,649,866 (GRCm39)	missense	probably benign	0.14
R9472:Klhl32	UTSW	4	24,629,273 (GRCm39)	missense	probably benign	0.13

Predicted Primers

Posted On

2017-06-26