Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01958:Klhl22'

181443

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Klhl22

Ensembl Gene

ENSMUSG00000022750

Gene Name

kelch-like 22

Synonyms

Kelchl, 2610318I18Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.264) question?

Stock #

IGL01958

Quality Score

Status

Chromosome

Chromosomal Location

17759618-17793382 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 17776462 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 152 (I152V)

Ref Sequence

ENSEMBL: ENSMUSP00000127227 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000117192] [ENSMUST00000120488] [ENSMUST00000126600] [ENSMUST00000129199] [ENSMUST00000129299] [ENSMUST00000140306] [ENSMUST00000165790]

AlphaFold

Q99JN2

Predicted Effect

probably benign
Transcript: ENSMUST00000117192
AA Change: I152V

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000114115
Gene: ENSMUSG00000022750
AA Change: I152V

Domain	Start	End	E-Value	Type
BTB	50	147	3.58e-26	SMART
BACK	152	258	2.14e-19	SMART
Kelch	299	349	8.12e0	SMART
Kelch	350	399	8.09e-4	SMART
Kelch	400	446	1.69e-6	SMART
Kelch	447	493	1.53e-4	SMART
Kelch	494	544	7.59e-2	SMART
Kelch	545	593	1.04e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000120488
AA Change: I152V

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000112412
Gene: ENSMUSG00000022750
AA Change: I152V

Domain	Start	End	E-Value	Type
BTB	50	147	3.58e-26	SMART
BACK	152	258	2.14e-19	SMART
Kelch	299	349	8.12e0	SMART
Kelch	350	399	8.09e-4	SMART
Kelch	400	446	1.69e-6	SMART
Kelch	447	493	1.53e-4	SMART
Kelch	494	544	7.59e-2	SMART
Kelch	545	593	1.04e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000126600

SMART Domains

Protein: ENSMUSP00000118696
Gene: ENSMUSG00000022750

Domain	Start	End	E-Value	Type
Pfam:BTB	40	115	1.7e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000129199

SMART Domains

Protein: ENSMUSP00000119191
Gene: ENSMUSG00000022750

Domain	Start	End	E-Value	Type
BTB	50	117	3.1e-3	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129299

Predicted Effect

probably benign
Transcript: ENSMUST00000140306

SMART Domains

Protein: ENSMUSP00000122145
Gene: ENSMUSG00000022750

Domain	Start	End	E-Value	Type
BTB	50	130	5.11e-13	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144116

Predicted Effect

probably benign
Transcript: ENSMUST00000165790
AA Change: I152V

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000127227
Gene: ENSMUSG00000022750
AA Change: I152V

Domain	Start	End	E-Value	Type
BTB	50	147	3.58e-26	SMART
BACK	152	258	2.14e-19	SMART
Kelch	299	349	8.12e0	SMART
Kelch	350	399	8.09e-4	SMART
Kelch	400	446	1.69e-6	SMART
Kelch	447	493	1.53e-4	SMART
Kelch	494	544	7.59e-2	SMART
Kelch	545	593	1.04e-6	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4732465J04Rik	T	C	10: 95,793,797	I29T	probably damaging	Het
5830411N06Rik	T	C	7: 140,274,127	C348R	probably damaging	Het
Agps	G	A	2: 75,909,701		probably null	Het
Agxt2	A	G	15: 10,393,708		probably null	Het
Ahnak	T	C	19: 9,014,909	V4519A	possibly damaging	Het
Aktip	T	C	8: 91,126,225	D159G	probably damaging	Het
Ankrd44	T	C	1: 54,766,966	I94V	probably damaging	Het
Asph	T	C	4: 9,474,904	E674G	possibly damaging	Het
Atat1	T	A	17: 35,908,843		probably benign	Het
Ccar1	G	A	10: 62,790,935	A20V	possibly damaging	Het
Cdc26	T	C	4: 62,402,764	D14G	probably damaging	Het
Cdh15	T	C	8: 122,859,350	F156S	probably damaging	Het
Dctn1	A	G	6: 83,191,344	T525A	possibly damaging	Het
Dnah8	T	G	17: 30,855,895		probably benign	Het
Dnajc10	T	A	2: 80,321,304		probably benign	Het
Dtl	C	A	1: 191,568,377	W125L	probably damaging	Het
Fam3c	G	A	6: 22,318,955	T149I	probably damaging	Het
Fgd6	A	G	10: 94,138,308	T1304A	probably benign	Het
Gm10718	A	T	9: 3,025,118	Y194F	probably benign	Het
Gm6578	A	G	6: 12,099,767		noncoding transcript	Het
Gnai1	A	G	5: 18,273,570	F199S	probably damaging	Het
Grb7	T	A	11: 98,454,654	V480D	probably damaging	Het
Hdc	A	G	2: 126,594,532	L473P	possibly damaging	Het
Hmcn1	T	C	1: 150,603,871	N4614S	probably benign	Het
Il20ra	A	G	10: 19,759,043	D344G	probably benign	Het
Ints1	C	T	5: 139,760,088	R1342Q	possibly damaging	Het
Itga9	T	A	9: 118,636,494		probably benign	Het
Kat14	T	C	2: 144,394,365	L339P	probably damaging	Het
Krtap5-2	C	A	7: 142,175,722	G74*	probably null	Het
Lrrc59	C	A	11: 94,638,528		probably null	Het
Map3k13	A	G	16: 21,892,123	Q52R	probably benign	Het
Mb21d2	A	G	16: 28,827,743		probably benign	Het
Mphosph9	A	T	5: 124,324,990		probably benign	Het
Myrf	A	G	19: 10,210,378		probably benign	Het
Nek11	T	C	9: 105,300,303	T250A	probably benign	Het
Nek5	A	T	8: 22,096,826	V323E	probably benign	Het
Nfasc	A	T	1: 132,608,438	C586*	probably null	Het
Nup210l	T	A	3: 90,203,924	L1711Q	possibly damaging	Het
Parp8	T	G	13: 116,876,572	K644Q	probably benign	Het
Pcnt	G	T	10: 76,433,679	Q252K	probably damaging	Het
Pianp	A	G	6: 125,000,683	T181A	possibly damaging	Het
Pkd1	T	C	17: 24,580,324	V2839A	probably damaging	Het
Poli	C	T	18: 70,526,586	R58H	possibly damaging	Het
Ptk7	T	C	17: 46,579,427	D447G	probably benign	Het
Rapgef5	A	G	12: 117,730,651	I637V	probably benign	Het
Rasip1	A	T	7: 45,636,764	R804*	probably null	Het
Relt	A	G	7: 100,851,143	V113A	probably benign	Het
Rnf215	G	T	11: 4,140,317	C345F	probably damaging	Het
Scn2a	A	G	2: 65,701,829	D595G	probably damaging	Het
Serpina3k	G	A	12: 104,341,057	V183M	probably damaging	Het
Snapc4	T	C	2: 26,366,440		probably benign	Het
Sparcl1	A	T	5: 104,092,540	D339E	probably benign	Het
Tg	T	C	15: 66,759,486	F535L	probably benign	Het
Zbtb45	C	A	7: 13,006,276	A471S	probably benign	Het
Zfp106	T	A	2: 120,534,807	K373M	probably benign	Het

Other mutations in Klhl22

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01973:Klhl22	APN	16	17792711	missense	probably benign	0.00
IGL02115:Klhl22	APN	16	17776595	missense	probably damaging	0.99
IGL02383:Klhl22	APN	16	17776898	missense	possibly damaging	0.60
IGL03381:Klhl22	APN	16	17792727	missense	possibly damaging	0.71
R0562:Klhl22	UTSW	16	17792624	missense	probably benign
R0811:Klhl22	UTSW	16	17792589	missense	probably benign	0.01
R0812:Klhl22	UTSW	16	17792589	missense	probably benign	0.01
R1661:Klhl22	UTSW	16	17776488	missense	probably benign	0.01
R1665:Klhl22	UTSW	16	17776488	missense	probably benign	0.01
R1732:Klhl22	UTSW	16	17777024	missense	probably damaging	1.00
R1902:Klhl22	UTSW	16	17771787	missense	probably damaging	1.00
R2042:Klhl22	UTSW	16	17792420	unclassified	probably benign
R2083:Klhl22	UTSW	16	17776525	missense	probably benign
R4368:Klhl22	UTSW	16	17789273	missense	possibly damaging	0.94
R4860:Klhl22	UTSW	16	17777016	synonymous	silent
R6413:Klhl22	UTSW	16	17789317	missense	probably benign	0.01
R7031:Klhl22	UTSW	16	17777026	missense	probably damaging	1.00
R7095:Klhl22	UTSW	16	17792750	missense	probably damaging	0.98
R7378:Klhl22	UTSW	16	17776805	missense	probably damaging	1.00
R7565:Klhl22	UTSW	16	17789284	missense	probably damaging	1.00
R8051:Klhl22	UTSW	16	17792579	missense	probably damaging	0.99
R8153:Klhl22	UTSW	16	17792550	missense	probably damaging	0.99
R8670:Klhl22	UTSW	16	17776463	missense	probably damaging	0.99
R8732:Klhl22	UTSW	16	17771826	missense	probably damaging	0.98
R9003:Klhl22	UTSW	16	17771748	missense	probably damaging	0.99
R9168:Klhl22	UTSW	16	17784204	missense	probably damaging	1.00
R9225:Klhl22	UTSW	16	17776753	missense	probably damaging	0.96
R9487:Klhl22	UTSW	16	17771799	missense	probably benign	0.10
R9603:Klhl22	UTSW	16	17777051	missense	possibly damaging	0.92
Z1088:Klhl22	UTSW	16	17776543	missense	possibly damaging	0.86
Z1176:Klhl22	UTSW	16	17776696	missense	probably benign	0.16

Posted On

2014-05-07