Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00229:Klhl30'

2532

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Klhl30

Ensembl Gene

ENSMUSG00000026308

Gene Name

kelch-like 30

Synonyms

4631423F02Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00229

Quality Score

Status

Chromosome

Chromosomal Location

91351016-91362416 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 91354157 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 160 (E160G)

Ref Sequence

ENSEMBL: ENSMUSP00000027533 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027533]

AlphaFold

Q8C3F7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027533
AA Change: E160G

PolyPhen 2 Score 0.786 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000027533
Gene: ENSMUSG00000026308
AA Change: E160G

Domain	Start	End	E-Value	Type
BTB	33	130	1.41e-24	SMART
BACK	135	237	5.11e-26	SMART
Kelch	328	378	2.2e-5	SMART
Kelch	379	423	7.4e-2	SMART
Kelch	473	514	1e1	SMART
Kelch	515	564	2.7e0	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010111I01Rik	A	G	13: 63,199,500		probably benign	Het
9030624J02Rik	T	A	7: 118,804,191		probably benign	Het
Abca4	A	G	3: 122,170,954	T929A	probably damaging	Het
Adam6b	G	A	12: 113,491,393	R610H	probably damaging	Het
Adamts12	T	A	15: 11,311,599	M1314K	probably benign	Het
Alg6	T	A	4: 99,753,054	F152I	probably damaging	Het
Arid5b	A	G	10: 68,128,975	S289P	probably damaging	Het
Axin1	T	C	17: 26,194,072	F780L	probably damaging	Het
C87499	A	G	4: 88,629,053	I214T	probably damaging	Het
C9	C	T	15: 6,483,231	S278L	possibly damaging	Het
Calr4	A	T	4: 109,244,115	I65F	probably damaging	Het
Cdh23	A	G	10: 60,523,548	V260A	probably benign	Het
Ddx25	T	C	9: 35,543,595		probably benign	Het
Dppa4	A	G	16: 48,291,083	T92A	possibly damaging	Het
Ercc5	T	C	1: 44,163,898	Y232H	probably damaging	Het
Exoc4	A	G	6: 33,918,399		probably null	Het
Fam149a	A	G	8: 45,351,786	V253A	probably damaging	Het
Fam209	C	T	2: 172,474,182	T159I	probably damaging	Het
Gcfc2	A	T	6: 81,936,015	N265I	probably damaging	Het
Glud1	T	C	14: 34,336,130	V366A	probably benign	Het
Hdac10	T	C	15: 89,128,442	T3A	probably damaging	Het
Ifnar1	T	C	16: 91,489,782	S54P	probably damaging	Het
Itpr2	T	C	6: 146,144,185	Y2561C	probably damaging	Het
Kmt2d	A	T	15: 98,862,333	S1015T	unknown	Het
Lactb2	A	G	1: 13,660,374	M26T	probably damaging	Het
Lactbl1	A	T	4: 136,631,051	D111V	probably damaging	Het
Lig4	T	C	8: 9,972,775	Y335C	probably damaging	Het
Lrrc8e	T	A	8: 4,235,921	D715E	probably benign	Het
Med6	A	T	12: 81,579,574	V142D	possibly damaging	Het
Men1	G	A	19: 6,337,207		probably null	Het
Mettl13	A	G	1: 162,535,865	V600A	possibly damaging	Het
Mpdz	A	T	4: 81,310,224	C1314*	probably null	Het
Nbeal2	A	G	9: 110,635,869	V1009A	probably damaging	Het
Nmur2	A	G	11: 56,040,777	L36P	probably damaging	Het
Nudt2	T	A	4: 41,480,474	L119Q	probably damaging	Het
Olfr1472	T	C	19: 13,453,840	M226V	possibly damaging	Het
Osbpl3	C	T	6: 50,323,068	E519K	probably damaging	Het
Pak6	A	T	2: 118,689,845	T106S	possibly damaging	Het
Pggt1b	T	G	18: 46,280,719	Q34P	probably benign	Het
Phactr4	T	C	4: 132,370,992	T322A	possibly damaging	Het
Plekhj1	T	C	10: 80,796,602		probably null	Het
Pnpt1	T	C	11: 29,154,217		probably null	Het
Prr14l	T	C	5: 32,830,676	I492V	probably benign	Het
Ranbp2	C	A	10: 58,477,256	A1266E	probably damaging	Het
Riok3	G	A	18: 12,137,020	D140N	probably damaging	Het
Rsph4a	G	A	10: 33,914,343	E643K	probably damaging	Het
Scara3	T	G	14: 65,933,121	E103A	probably benign	Het
Sgk3	T	C	1: 9,868,384	V33A	probably damaging	Het
Slc38a4	A	G	15: 96,999,494	F480S	probably damaging	Het
Slc44a1	G	A	4: 53,543,571	V372M	probably damaging	Het
Slc9a2	A	G	1: 40,767,737	Y728C	probably benign	Het
Sox4	C	A	13: 28,952,973	G17W	probably damaging	Het
Spidr	A	T	16: 15,895,578	L847Q	probably damaging	Het
Sptb	A	G	12: 76,620,753	S857P	probably benign	Het
Syde1	A	G	10: 78,585,809	V636A	probably damaging	Het
Syna	A	G	5: 134,559,717	L126P	possibly damaging	Het
Taar2	A	G	10: 23,941,368	T269A	possibly damaging	Het
Tapbp	C	T	17: 33,925,704	T258I	probably damaging	Het
Tcf20	T	A	15: 82,857,142	Q36L	possibly damaging	Het
Tmem131l	A	T	3: 83,942,500	M260K	probably damaging	Het
Tnc	T	A	4: 64,016,824		probably benign	Het
Ugp2	T	A	11: 21,354,345	E27D	probably benign	Het
Wdr27	A	T	17: 14,928,310	C140*	probably null	Het
Wnt2b	T	C	3: 104,953,133	T153A	possibly damaging	Het
Xirp2	A	T	2: 67,513,375	T1987S	probably benign	Het
Zfp36l1	C	A	12: 80,110,464	G48C	probably damaging	Het
Zfp474	A	T	18: 52,638,493	I73F	possibly damaging	Het
Zfp790	T	A	7: 29,828,563	F224L	probably benign	Het

Other mutations in Klhl30

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01485:Klhl30	APN	1	91354039	missense	probably damaging	0.98
IGL02698:Klhl30	APN	1	91353707	missense	probably damaging	1.00
IGL02751:Klhl30	APN	1	91354099	missense	probably damaging	1.00
BB006:Klhl30	UTSW	1	91355516	missense	possibly damaging	0.67
BB016:Klhl30	UTSW	1	91355516	missense	possibly damaging	0.67
R0458:Klhl30	UTSW	1	91360996	splice site	probably benign
R0578:Klhl30	UTSW	1	91354352	missense	probably benign	0.00
R0621:Klhl30	UTSW	1	91357863	missense	probably damaging	1.00
R0645:Klhl30	UTSW	1	91355506	missense	probably damaging	0.98
R1240:Klhl30	UTSW	1	91361015	missense	probably benign	0.00
R1374:Klhl30	UTSW	1	91361076	missense	probably damaging	1.00
R2029:Klhl30	UTSW	1	91357914	splice site	probably null
R2126:Klhl30	UTSW	1	91358777	splice site	probably null
R2152:Klhl30	UTSW	1	91357824	missense	probably benign	0.32
R3913:Klhl30	UTSW	1	91359444	missense	possibly damaging	0.92
R4031:Klhl30	UTSW	1	91361157	missense	probably benign	0.01
R4116:Klhl30	UTSW	1	91354108	missense	probably benign	0.20
R4427:Klhl30	UTSW	1	91353704	missense	probably damaging	1.00
R4561:Klhl30	UTSW	1	91361031	missense	probably damaging	1.00
R4896:Klhl30	UTSW	1	91359324	splice site	probably null
R4961:Klhl30	UTSW	1	91357384	missense	possibly damaging	0.82
R5004:Klhl30	UTSW	1	91359324	splice site	probably null
R5062:Klhl30	UTSW	1	91355578	missense	probably benign	0.00
R6298:Klhl30	UTSW	1	91357364	missense	probably benign	0.24
R6299:Klhl30	UTSW	1	91357914	splice site	probably null
R6393:Klhl30	UTSW	1	91361190	missense	probably damaging	1.00
R6962:Klhl30	UTSW	1	91357415	missense	probably damaging	0.99
R7461:Klhl30	UTSW	1	91357408	missense	possibly damaging	0.90
R7849:Klhl30	UTSW	1	91359337	missense	probably benign	0.00
R7929:Klhl30	UTSW	1	91355516	missense	possibly damaging	0.67
R8378:Klhl30	UTSW	1	91357772	nonsense	probably null
R8944:Klhl30	UTSW	1	91359452	missense	probably damaging	1.00
R9790:Klhl30	UTSW	1	91354367	missense	probably benign	0.23
R9791:Klhl30	UTSW	1	91354367	missense	probably benign	0.23
Z1176:Klhl30	UTSW	1	91359465	missense	probably damaging	0.96

Posted On

2011-12-09