Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00978:Klhl32'

27345

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Klhl32

Ensembl Gene

ENSMUSG00000040387

Gene Name

kelch-like 32

Synonyms

LOC384000, D4Ertd389e, 6430524H05Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.095) question?

Stock #

IGL00978

Quality Score

Status

Chromosome

Chromosomal Location

24612554-24851124 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 24682245 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 146 (D146V)

Ref Sequence

ENSEMBL: ENSMUSP00000103849 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084781] [ENSMUST00000108214] [ENSMUST00000108218] [ENSMUST00000140652] [ENSMUST00000150920]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000084781
AA Change: D113V

PolyPhen 2 Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000081839
Gene: ENSMUSG00000040387
AA Change: D113V

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 damaging
Transcript: ENSMUST00000108214
AA Change: D146V

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

SMART Domains

Protein: ENSMUSP00000103849
Gene: ENSMUSG00000040387
AA Change: D146V

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

possibly damaging
Transcript: ENSMUST00000108218
AA Change: D146V

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000103853
Gene: ENSMUSG00000040387
AA Change: D146V

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

probably benign
Transcript: ENSMUST00000150920

SMART Domains

Protein: ENSMUSP00000135917
Gene: ENSMUSG00000040387

Domain	Start	End	E-Value	Type
Blast:BTB	1	49	4e-19	BLAST

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009L18Rik	T	C	11: 120,350,947		probably benign	Het
Alpk2	A	T	18: 65,291,534		probably benign	Het
Angptl8	T	C	9: 21,837,053		probably benign	Het
AU040320	T	A	4: 126,828,839	D383E	probably benign	Het
Cep97	C	T	16: 55,924,960		probably benign	Het
Clcn4	A	T	7: 7,287,673	L649H	probably damaging	Het
Col5a2	T	C	1: 45,376,739	N1416S	probably benign	Het
Erbb2	C	T	11: 98,435,630	P1027S	probably damaging	Het
Eya1	A	G	1: 14,270,701		probably benign	Het
Gfm2	T	C	13: 97,162,977	I402T	probably benign	Het
Gmeb2	A	T	2: 181,259,043	V187E	probably benign	Het
Hectd1	T	C	12: 51,791,390	H662R	possibly damaging	Het
Ifne	T	C	4: 88,880,031	Q50R	probably benign	Het
Kidins220	A	G	12: 25,057,474	D1642G	probably damaging	Het
Krt36	T	C	11: 100,102,948	I355V	probably damaging	Het
Lrrcc1	T	A	3: 14,536,128	S73R	possibly damaging	Het
Ltbp3	A	T	19: 5,754,019	H853L	probably benign	Het
Map3k5	G	A	10: 20,141,567	R1369Q	probably damaging	Het
Mcm8	A	G	2: 132,821,406	N148S	probably benign	Het
Mylk3	A	T	8: 85,355,526	L211*	probably null	Het
Nras	T	C	3: 103,058,916		probably benign	Het
Olfr135	A	T	17: 38,208,982	I246F	probably damaging	Het
Olfr670	A	T	7: 104,960,716	N5K	probably damaging	Het
Os9	A	T	10: 127,120,509	Y66N	probably damaging	Het
Pitpnm1	A	G	19: 4,101,228	D15G	possibly damaging	Het
Reg3a	A	T	6: 78,382,301	R95*	probably null	Het
Rnf17	C	T	14: 56,512,271	P1425S	probably damaging	Het
Smad2	T	C	18: 76,299,775		probably benign	Het
Ttll5	C	T	12: 85,933,482	Q76*	probably null	Het
Uri1	A	T	7: 37,996,731		probably benign	Het
Vmn2r102	G	T	17: 19,678,923		probably null	Het
Vmn2r70	T	G	7: 85,563,799	M467L	probably benign	Het
Zfp318	T	A	17: 46,413,726	D2218E	possibly damaging	Het
Zfp692	T	C	11: 58,314,029	I405T	possibly damaging	Het
Zfp692	A	G	11: 58,309,998	H235R	possibly damaging	Het

Other mutations in Klhl32

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02293:Klhl32	APN	4	24626935	missense	probably damaging	1.00
IGL02374:Klhl32	APN	4	24743856	critical splice donor site	probably null
IGL02824:Klhl32	APN	4	24682237	nonsense	probably null
IGL03211:Klhl32	APN	4	24792616	critical splice donor site	probably null
IGL03374:Klhl32	APN	4	24649533	intron	probably benign
R0071:Klhl32	UTSW	4	24743907	missense	probably damaging	0.98
R0478:Klhl32	UTSW	4	24792777	missense	probably damaging	1.00
R0856:Klhl32	UTSW	4	24682092	missense	probably damaging	1.00
R0908:Klhl32	UTSW	4	24682092	missense	probably damaging	1.00
R1882:Klhl32	UTSW	4	24743916	nonsense	probably null
R1927:Klhl32	UTSW	4	24617474	missense	probably benign	0.00
R2137:Klhl32	UTSW	4	24629275	nonsense	probably null
R3176:Klhl32	UTSW	4	24682063	missense	probably benign	0.39
R3276:Klhl32	UTSW	4	24682063	missense	probably benign	0.39
R4059:Klhl32	UTSW	4	24792781	missense	probably damaging	1.00
R4246:Klhl32	UTSW	4	24800822	missense	possibly damaging	0.50
R4597:Klhl32	UTSW	4	24629339	missense	probably benign	0.21
R4801:Klhl32	UTSW	4	24649698	missense	possibly damaging	0.82
R4802:Klhl32	UTSW	4	24649698	missense	possibly damaging	0.82
R4929:Klhl32	UTSW	4	24709030	missense	probably damaging	1.00
R5654:Klhl32	UTSW	4	24800805	critical splice donor site	probably null
R6039:Klhl32	UTSW	4	24792615	critical splice donor site	probably null
R6039:Klhl32	UTSW	4	24792615	critical splice donor site	probably null
R6362:Klhl32	UTSW	4	24629195	missense	probably null	1.00
R6490:Klhl32	UTSW	4	24711578	intron	probably benign
R6948:Klhl32	UTSW	4	24629250	missense	probably benign	0.00
R6981:Klhl32	UTSW	4	24709030	missense	probably damaging	1.00

Posted On

2013-04-17