Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02952:Klhl36'

364963

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Klhl36

Ensembl Gene

ENSMUSG00000031828

Gene Name

kelch-like 36

Synonyms

Accession Numbers

Essential gene?

Probably essential (E-score: 0.804) question?

Stock #

IGL02952

Quality Score

Status

Chromosome

Chromosomal Location

120589005-120603734 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 120597223 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 308 (E308G)

Ref Sequence

ENSEMBL: ENSMUSP00000034287 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034287]

AlphaFold

Q8R124

Predicted Effect

probably benign
Transcript: ENSMUST00000034287
AA Change: E308G

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000034287
Gene: ENSMUSG00000031828
AA Change: E308G

Domain	Start	End	E-Value	Type
BTB	45	142	2.05e-26	SMART
BACK	147	249	1.76e-15	SMART
Kelch	294	343	7.59e-2	SMART
Kelch	344	395	6.67e-5	SMART
Kelch	396	442	2.86e-4	SMART
Kelch	443	491	2.86e-4	SMART
Kelch	492	544	2.23e-1	SMART
Kelch	545	593	1.81e-6	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212636

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212970

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	T	6: 121,654,984 (GRCm39)	D1436V	probably damaging	Het
Abca7	G	T	10: 79,843,242 (GRCm39)	R1239L	probably damaging	Het
Acp2	T	C	2: 91,038,788 (GRCm39)		probably benign	Het
Adamts4	A	G	1: 171,078,917 (GRCm39)	N179S	probably damaging	Het
Adgrv1	T	C	13: 81,581,755 (GRCm39)	D4763G	probably benign	Het
Atp11b	T	C	3: 35,882,844 (GRCm39)	V633A	probably damaging	Het
Cadm2	A	T	16: 66,461,338 (GRCm39)	I342K	probably damaging	Het
Capn10	T	C	1: 92,872,896 (GRCm39)	S541P	probably damaging	Het
Ccnf	A	G	17: 24,450,299 (GRCm39)	L462P	possibly damaging	Het
Cdc27	T	C	11: 104,408,290 (GRCm39)	Y546C	probably damaging	Het
Cep120	G	T	18: 53,816,300 (GRCm39)		probably benign	Het
Cetn2	T	C	X: 71,957,808 (GRCm39)		probably null	Het
Cyp1a1	C	T	9: 57,609,993 (GRCm39)	S469L	probably benign	Het
Dnah17	G	A	11: 117,979,094 (GRCm39)	T1766I	probably benign	Het
Doc2g	G	A	19: 4,056,719 (GRCm39)	G345D	possibly damaging	Het
Dock4	T	C	12: 40,760,902 (GRCm39)		probably null	Het
Dop1a	T	A	9: 86,414,975 (GRCm39)		probably benign	Het
Emilin2	C	A	17: 71,587,816 (GRCm39)	V99F	probably damaging	Het
Exoc8	A	G	8: 125,624,275 (GRCm39)	S31P	probably benign	Het
Gask1b	T	C	3: 79,793,646 (GRCm39)	L38P	probably damaging	Het
Gm3115	T	C	14: 4,084,302 (GRCm38)		probably benign	Het
Gm9742	T	A	13: 8,079,930 (GRCm39)		noncoding transcript	Het
Gpr160	T	C	3: 30,950,443 (GRCm39)	Y172H	probably benign	Het
Ifnk	T	A	4: 35,152,495 (GRCm39)	L141Q	probably damaging	Het
Lrp1b	T	C	2: 41,396,715 (GRCm39)	I450M	probably benign	Het
Noxa1	T	C	2: 24,981,773 (GRCm39)	Y110C	probably damaging	Het
Or10ad1	T	C	15: 98,105,470 (GRCm39)	Y265C	probably damaging	Het
Pkd2	A	T	5: 104,628,026 (GRCm39)	T367S	possibly damaging	Het
Polg2	T	C	11: 106,663,539 (GRCm39)	I385V	possibly damaging	Het
Ppp1r14bl	A	T	1: 23,141,071 (GRCm39)	I81N	probably damaging	Het
Prr14l	A	G	5: 32,993,014 (GRCm39)	S17P	unknown	Het
Prss22	C	A	17: 24,215,697 (GRCm39)	C75F	probably damaging	Het
Ptgs1	A	G	2: 36,141,253 (GRCm39)	K567E	probably benign	Het
Ptprz1	A	G	6: 23,036,925 (GRCm39)	I1141M	probably damaging	Het
R3hcc1l	A	G	19: 42,552,433 (GRCm39)	K477E	probably damaging	Het
Riok1	A	G	13: 38,232,866 (GRCm39)	Y194C	probably damaging	Het
Smr2	T	A	5: 88,236,095 (GRCm39)	C16S	possibly damaging	Het
Stk25	A	T	1: 93,553,798 (GRCm39)	I187N	probably damaging	Het
Trhde	T	C	10: 114,636,478 (GRCm39)	E243G	probably damaging	Het
Vmn2r3	T	C	3: 64,186,256 (GRCm39)	E143G	probably damaging	Het

Other mutations in Klhl36

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01544:Klhl36	APN	8	120,596,755 (GRCm39)	missense	possibly damaging	0.92
IGL02310:Klhl36	APN	8	120,596,356 (GRCm39)	splice site	probably null
IGL03027:Klhl36	APN	8	120,603,229 (GRCm39)	missense	probably benign	0.33
R0440:Klhl36	UTSW	8	120,603,290 (GRCm39)	missense	probably damaging	1.00
R1918:Klhl36	UTSW	8	120,603,463 (GRCm39)	missense	probably damaging	1.00
R2141:Klhl36	UTSW	8	120,603,511 (GRCm39)	missense	possibly damaging	0.94
R2762:Klhl36	UTSW	8	120,596,713 (GRCm39)	missense	probably damaging	1.00
R4184:Klhl36	UTSW	8	120,601,124 (GRCm39)	missense	probably damaging	0.99
R6268:Klhl36	UTSW	8	120,597,406 (GRCm39)	missense	probably damaging	0.98
R6899:Klhl36	UTSW	8	120,596,881 (GRCm39)	missense	probably benign
R7057:Klhl36	UTSW	8	120,603,536 (GRCm39)	missense	probably benign	0.01
R7152:Klhl36	UTSW	8	120,596,953 (GRCm39)	missense	probably benign	0.13
R7431:Klhl36	UTSW	8	120,597,121 (GRCm39)	missense	probably benign	0.00
R7438:Klhl36	UTSW	8	120,596,914 (GRCm39)	nonsense	probably null
R7751:Klhl36	UTSW	8	120,596,397 (GRCm39)	missense	probably benign	0.08
R7883:Klhl36	UTSW	8	120,601,217 (GRCm39)	missense	possibly damaging	0.65
R8897:Klhl36	UTSW	8	120,597,279 (GRCm39)	missense	probably benign	0.29
R8969:Klhl36	UTSW	8	120,596,887 (GRCm39)	missense	probably damaging	1.00
R9530:Klhl36	UTSW	8	120,591,808 (GRCm39)	missense	possibly damaging	0.68
R9776:Klhl36	UTSW	8	120,601,129 (GRCm39)	nonsense	probably null

Posted On

2015-12-18