Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01338:Klhl18'

74726

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Klhl18

Ensembl Gene

ENSMUSG00000054792

Gene Name

kelch-like 18

Synonyms

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01338

Quality Score

Status

Chromosome

Chromosomal Location

110425926-110476694 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 110455433 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 62 (Y62H)

Ref Sequence

ENSEMBL: ENSMUSP00000143634 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068025] [ENSMUST00000198164] [ENSMUST00000198400]

AlphaFold

E9Q4F2

Predicted Effect

probably damaging
Transcript: ENSMUST00000068025
AA Change: Y62H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000069674
Gene: ENSMUSG00000054792
AA Change: Y62H

Domain	Start	End	E-Value	Type
BTB	38	135	1.32e-29	SMART
BACK	140	242	1.67e-39	SMART
Kelch	289	336	1.78e-14	SMART
Kelch	337	383	2.64e-17	SMART
Kelch	384	430	2.18e-18	SMART
Kelch	431	477	9.27e-13	SMART
Kelch	478	524	3.34e-5	SMART
Kelch	525	571	1.22e-12	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000111934
AA Change: Y62H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000107565
Gene: ENSMUSG00000054792
AA Change: Y62H

Domain	Start	End	E-Value	Type
BTB	38	135	1.32e-29	SMART
BACK	140	242	1.67e-39	SMART
Kelch	289	341	8.52e-12	SMART
Kelch	342	388	2.64e-17	SMART
Kelch	389	435	2.18e-18	SMART
Kelch	436	482	9.27e-13	SMART
Kelch	483	529	3.34e-5	SMART
Kelch	530	576	1.22e-12	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000197336
AA Change: Y60H

Predicted Effect

probably damaging
Transcript: ENSMUST00000198164
AA Change: Y62H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000143634
Gene: ENSMUSG00000054792
AA Change: Y62H

Domain	Start	End	E-Value	Type
BTB	38	135	1.32e-29	SMART
BACK	140	242	1.67e-39	SMART
Kelch	289	341	8.52e-12	SMART
Kelch	342	388	2.64e-17	SMART
Kelch	389	435	2.18e-18	SMART
Kelch	436	482	9.27e-13	SMART
Kelch	483	529	3.34e-5	SMART
Kelch	530	576	1.22e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000198400

SMART Domains

Protein: ENSMUSP00000143384
Gene: ENSMUSG00000054792

Domain	Start	End	E-Value	Type
Pfam:BTB	1	70	2.1e-15	PFAM
BACK	75	177	1.67e-39	SMART
Kelch	224	271	1.78e-14	SMART
Kelch	272	318	2.64e-17	SMART
Kelch	319	365	2.18e-18	SMART
Kelch	366	412	9.27e-13	SMART
Kelch	413	459	3.34e-5	SMART
Kelch	460	506	1.22e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000200256

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110004E09Rik	T	C	16: 90,926,048	N266S	possibly damaging	Het
Adam23	A	G	1: 63,551,855	T494A	possibly damaging	Het
Adamts16	C	T	13: 70,836,115	C143Y	probably damaging	Het
Cacna1i	A	G	15: 80,348,380	I195V	probably damaging	Het
Casp7	T	C	19: 56,404,464	S17P	probably benign	Het
Cox6a1	C	A	5: 115,345,839		probably benign	Het
Cpvl	T	A	6: 53,974,655	S48C	possibly damaging	Het
Cyp2b19	G	T	7: 26,759,417	M138I	probably benign	Het
Dennd5a	T	C	7: 109,919,404	Y510C	possibly damaging	Het
Derl2	A	G	11: 71,010,355	F229S	possibly damaging	Het
Dlec1	A	G	9: 119,120,911	E452G	probably damaging	Het
Dsc2	T	C	18: 20,047,157	K180E	probably benign	Het
Dus1l	G	A	11: 120,793,092	R177C	possibly damaging	Het
Egfr	A	G	11: 16,863,020	I167V	probably damaging	Het
Fam219b	A	T	9: 57,538,022		probably null	Het
Fn1	T	C	1: 71,626,210	E916G	probably damaging	Het
Gm2058	C	T	7: 39,589,156		noncoding transcript	Het
Gpd1	T	A	15: 99,718,175	V22E	probably damaging	Het
Hsf2	T	C	10: 57,501,379	F124L	probably damaging	Het
I0C0044D17Rik	A	G	4: 98,820,099		probably benign	Het
Igfbp3	A	T	11: 7,208,478	F262I	possibly damaging	Het
Lama2	C	T	10: 27,188,272	E1238K	probably benign	Het
Man1b1	A	G	2: 25,338,227	K170E	probably benign	Het
Mcrs1	A	T	15: 99,249,501	I39N	probably damaging	Het
Mug2	T	C	6: 122,049,628		probably benign	Het
Neu3	C	A	7: 99,813,422	G365W	probably damaging	Het
Nipal3	A	C	4: 135,471,883		probably null	Het
Nrxn3	A	G	12: 89,255,034	I528V	possibly damaging	Het
Olfr122	A	T	17: 37,771,839	H71L	possibly damaging	Het
Osbpl8	A	G	10: 111,267,747	K204R	probably damaging	Het
Pax8	A	G	2: 24,435,919	S318P	possibly damaging	Het
Pcdh18	T	A	3: 49,756,141	N242Y	probably damaging	Het
Pkd1l2	T	A	8: 117,059,520	K649*	probably null	Het
Ppm1n	A	T	7: 19,279,254	D257E	probably benign	Het
Pxdn	A	G	12: 30,002,797	E811G	probably damaging	Het
Relb	T	C	7: 19,616,373	I218V	probably benign	Het
Rreb1	T	C	13: 37,931,034	C790R	probably damaging	Het
Rtkn2	G	T	10: 68,025,519	C258F	possibly damaging	Het
Scn11a	G	A	9: 119,784,161		probably benign	Het
Snx8	G	A	5: 140,358,096	R96C	probably damaging	Het
Syne2	A	T	12: 76,060,226	T5649S	possibly damaging	Het
Tm2d3	T	A	7: 65,695,222	C82*	probably null	Het
Tnpo2	T	C	8: 85,040,526	L55P	probably damaging	Het
Tsc22d2	T	C	3: 58,417,415		probably benign	Het
Ttll3	T	G	6: 113,394,729	V19G	probably damaging	Het
Ube2r2	A	G	4: 41,174,119	I86V	probably benign	Het
Vps13d	G	A	4: 145,088,322	T3153I	probably damaging	Het
Wwp1	A	G	4: 19,627,636	I753T	probably damaging	Het

Other mutations in Klhl18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01108:Klhl18	APN	9	110428686	missense	probably damaging	1.00
IGL01455:Klhl18	APN	9	110432443	missense	probably damaging	1.00
IGL01954:Klhl18	APN	9	110428866	missense	probably damaging	1.00
IGL01960:Klhl18	APN	9	110450746	missense	probably benign	0.25
IGL02195:Klhl18	APN	9	110438902	missense	possibly damaging	0.92
IGL02430:Klhl18	APN	9	110437401	missense	probably benign	0.25
IGL02629:Klhl18	APN	9	110429938	splice site	probably benign
Mixie	UTSW	9	110436062	missense	probably benign	0.00
R0389:Klhl18	UTSW	9	110428681	missense	probably benign	0.00
R1538:Klhl18	UTSW	9	110446747	missense	probably damaging	1.00
R1777:Klhl18	UTSW	9	110437401	missense	probably benign	0.25
R1966:Klhl18	UTSW	9	110476590	missense	probably benign	0.14
R2099:Klhl18	UTSW	9	110455418	missense	probably damaging	1.00
R3699:Klhl18	UTSW	9	110436066	missense	probably benign	0.06
R3911:Klhl18	UTSW	9	110436083	missense	probably damaging	1.00
R3950:Klhl18	UTSW	9	110428902	missense	probably damaging	1.00
R4197:Klhl18	UTSW	9	110429944	critical splice donor site	probably null
R4500:Klhl18	UTSW	9	110429966	missense	probably damaging	1.00
R4936:Klhl18	UTSW	9	110428961	missense	possibly damaging	0.88
R5296:Klhl18	UTSW	9	110436127	missense	possibly damaging	0.64
R5298:Klhl18	UTSW	9	110436127	missense	possibly damaging	0.64
R5301:Klhl18	UTSW	9	110436127	missense	possibly damaging	0.64
R5407:Klhl18	UTSW	9	110436127	missense	possibly damaging	0.64
R5433:Klhl18	UTSW	9	110436127	missense	possibly damaging	0.64
R5641:Klhl18	UTSW	9	110446828	missense	probably damaging	1.00
R6084:Klhl18	UTSW	9	110428727	missense	possibly damaging	0.52
R6279:Klhl18	UTSW	9	110436062	missense	probably benign	0.00
R6300:Klhl18	UTSW	9	110436062	missense	probably benign	0.00
R6425:Klhl18	UTSW	9	110446681	missense	possibly damaging	0.85
R6465:Klhl18	UTSW	9	110428920	missense	probably benign	0.21
R6521:Klhl18	UTSW	9	110428635	missense	possibly damaging	0.92
R6587:Klhl18	UTSW	9	110455426	missense	probably damaging	1.00
R6730:Klhl18	UTSW	9	110428911	missense	probably damaging	0.98
R7110:Klhl18	UTSW	9	110450765	missense	probably damaging	0.99
R7492:Klhl18	UTSW	9	110428775	nonsense	probably null
R7580:Klhl18	UTSW	9	110436050	missense	probably benign	0.00
R7598:Klhl18	UTSW	9	110446810	nonsense	probably null
R7789:Klhl18	UTSW	9	110439008	missense	unknown
R7988:Klhl18	UTSW	9	110476509	missense	possibly damaging	0.87
R8050:Klhl18	UTSW	9	110428761	missense	probably damaging	1.00
Z1176:Klhl18	UTSW	9	110437347	missense	probably null	0.99

Posted On

2013-10-07