Mutagenetix > Incidental Mutation

Incidental Mutation 'R9720:Klhl23'

730696

Institutional Source

Beutler Lab

Gene Symbol

Klhl23

Ensembl Gene

ENSMUSG00000042155

Gene Name

kelch-like 23

Synonyms

C130068N17Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.111) question?

Stock #

R9720 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

69652288-69666995 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 69654804 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 225 (Y225H)

Ref Sequence

ENSEMBL: ENSMUSP00000050219 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053087]

AlphaFold

Q6GQU2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000053087
AA Change: Y225H

PolyPhen 2 Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000050219
Gene: ENSMUSG00000042155
AA Change: Y225H

Domain	Start	End	E-Value	Type
BTB	36	134	8.34e-27	SMART
BACK	139	240	8.51e-23	SMART
Kelch	274	319	5.19e0	SMART
Kelch	321	369	5.85e-10	SMART
Kelch	370	416	7.78e-6	SMART
Kelch	417	466	2.11e-1	SMART
Kelch	467	508	3.8e-9	SMART
Kelch	509	557	2.25e-11	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.8%
20x: 99.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	T	G	11: 84,154,183 (GRCm39)	V968G	probably damaging	Het
Adam33	A	G	2: 130,900,236 (GRCm39)	V110A		Het
Adamts2	T	C	11: 50,666,954 (GRCm39)	M417T	probably damaging	Het
Adgrv1	A	G	13: 81,740,693 (GRCm39)	I145T	probably damaging	Het
Ampd3	C	A	7: 110,377,056 (GRCm39)	H16N	probably benign	Het
Ank3	A	T	10: 69,825,335 (GRCm39)	S1335C		Het
Ankrd26	G	A	6: 118,498,902 (GRCm39)	S1208L	probably damaging	Het
Atmin	G	A	8: 117,681,653 (GRCm39)		probably null	Het
AU018091	T	C	7: 3,209,272 (GRCm39)	T323A	probably benign	Het
Barx2	A	G	9: 31,765,407 (GRCm39)		probably null	Het
Bltp3b	T	A	10: 89,641,219 (GRCm39)	S797T	probably benign	Het
Brpf3	A	G	17: 29,026,330 (GRCm39)	I468V	probably benign	Het
Cacna1g	T	A	11: 94,302,297 (GRCm39)	H1985L	probably benign	Het
Cass4	T	C	2: 172,269,568 (GRCm39)	V550A	probably benign	Het
Ccdc88a	A	G	11: 29,413,813 (GRCm39)	S784G	probably benign	Het
Cd300ld2	C	T	11: 114,903,118 (GRCm39)		probably null	Het
Cgn	G	A	3: 94,686,621 (GRCm39)	A227V	probably benign	Het
Clcn7	G	T	17: 25,374,471 (GRCm39)	R524L	probably damaging	Het
Cldn22	G	A	8: 48,277,786 (GRCm39)	A75T	probably benign	Het
Ddb1	A	G	19: 10,585,724 (GRCm39)	D146G	probably benign	Het
Dhx32	C	A	7: 133,324,857 (GRCm39)	E607*	probably null	Het
Egfem1	A	G	3: 29,716,580 (GRCm39)	Y350C	probably damaging	Het
Eri2	T	A	7: 119,386,976 (GRCm39)	D181V	probably damaging	Het
Gabrg2	T	C	11: 41,862,673 (GRCm39)	N137S	probably damaging	Het
Gar1	C	T	3: 129,620,497 (GRCm39)	G197S	unknown	Het
Ggta1	G	T	2: 35,303,418 (GRCm39)	D91E	probably benign	Het
Hap1	T	A	11: 100,246,696 (GRCm39)	I70F	probably benign	Het
Hars2	A	G	18: 36,920,607 (GRCm39)	Y150C	probably damaging	Het
Igsf9b	G	A	9: 27,220,810 (GRCm39)	V59I	probably damaging	Het
Il15	T	G	8: 83,058,608 (GRCm39)	K142Q	probably damaging	Het
Krt6b	T	A	15: 101,588,226 (GRCm39)	I145F	probably benign	Het
Lgals3bp	T	A	11: 118,284,083 (GRCm39)	T499S	probably benign	Het
Lrriq4	A	G	3: 30,714,077 (GRCm39)	N490S	probably damaging	Het
Ltbr	G	A	6: 125,284,348 (GRCm39)	R365W	probably damaging	Het
Mical3	A	G	6: 120,935,238 (GRCm39)	S1763P	probably damaging	Het
Ncoa6	A	G	2: 155,250,304 (GRCm39)	V1000A	probably damaging	Het
Nefm	A	G	14: 68,358,793 (GRCm39)	S414P	probably benign	Het
Nphs1	T	C	7: 30,165,499 (GRCm39)	V622A	possibly damaging	Het
Or6c76	T	C	10: 129,612,581 (GRCm39)	V281A	probably benign	Het
Or6d14	T	C	6: 116,534,016 (GRCm39)	V210A	possibly damaging	Het
Pde4dip	T	C	3: 97,603,287 (GRCm39)	D2234G	probably damaging	Het
Pde6c	A	T	19: 38,157,887 (GRCm39)	Y637F	probably benign	Het
Pigg	T	A	5: 108,467,800 (GRCm39)	C266*	probably null	Het
Pkdrej	A	T	15: 85,702,497 (GRCm39)	D1146E	possibly damaging	Het
Pkp2	T	C	16: 16,087,584 (GRCm39)	V756A	probably benign	Het
Pole	C	T	5: 110,484,909 (GRCm39)	T2245I	probably benign	Het
Ppm1g	A	C	5: 31,360,914 (GRCm39)		probably null	Het
Ppp1r36	A	G	12: 76,485,298 (GRCm39)	I340M	possibly damaging	Het
Pvr	G	A	7: 19,643,121 (GRCm39)	R371*	probably null	Het
Rassf9	G	A	10: 102,348,369 (GRCm39)		probably benign	Het
Rtl1	A	C	12: 109,559,882 (GRCm39)	N652K	possibly damaging	Het
Sall4	G	C	2: 168,592,160 (GRCm39)	S998C	probably damaging	Het
Sdk1	T	C	5: 142,197,796 (GRCm39)	Y2150H	probably damaging	Het
Serpinb3b	A	T	1: 107,083,669 (GRCm39)	I170K	probably benign	Het
Shank2	A	T	7: 143,682,137 (GRCm39)	D390V	probably damaging	Het
Slc39a4	A	G	15: 76,500,930 (GRCm39)	V11A	probably benign	Het
Synj2	C	T	17: 6,040,584 (GRCm39)	T220I	probably benign	Het
Taar7a	A	G	10: 23,868,733 (GRCm39)	I216T	probably benign	Het
Tas2r122	G	T	6: 132,688,634 (GRCm39)	D86E	probably benign	Het
Tbxa2r	T	A	10: 81,169,018 (GRCm39)	C236S	probably benign	Het
Trav13d-4	C	A	14: 53,995,286 (GRCm39)	T80K	probably benign	Het
Trav6d-5	T	A	14: 53,033,077 (GRCm39)	C109S	probably damaging	Het
Trio	A	G	15: 27,847,495 (GRCm39)	M982T	probably benign	Het
Unc80	A	T	1: 66,683,485 (GRCm39)	T2176S	possibly damaging	Het
Ypel1	T	C	16: 16,910,890 (GRCm39)	T259A	probably damaging	Het
Zfp120	A	T	2: 149,959,197 (GRCm39)	I397K	probably benign	Het

Other mutations in Klhl23

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02582:Klhl23	APN	2	69,654,582 (GRCm39)	missense	probably damaging	1.00
IGL02637:Klhl23	APN	2	69,659,258 (GRCm39)	nonsense	probably null
R0128:Klhl23	UTSW	2	69,664,310 (GRCm39)	missense	probably damaging	0.97
R0130:Klhl23	UTSW	2	69,664,310 (GRCm39)	missense	probably damaging	0.97
R0333:Klhl23	UTSW	2	69,664,241 (GRCm39)	missense	probably damaging	1.00
R0538:Klhl23	UTSW	2	69,654,757 (GRCm39)	missense	probably benign	0.01
R1466:Klhl23	UTSW	2	69,664,232 (GRCm39)	missense	probably damaging	1.00
R1466:Klhl23	UTSW	2	69,664,232 (GRCm39)	missense	probably damaging	1.00
R1584:Klhl23	UTSW	2	69,664,232 (GRCm39)	missense	probably damaging	1.00
R1970:Klhl23	UTSW	2	69,664,030 (GRCm39)	missense	probably damaging	1.00
R2102:Klhl23	UTSW	2	69,659,228 (GRCm39)	missense	probably damaging	1.00
R4236:Klhl23	UTSW	2	69,654,516 (GRCm39)	missense	probably damaging	0.98
R4473:Klhl23	UTSW	2	69,654,151 (GRCm39)	missense	possibly damaging	0.67
R5446:Klhl23	UTSW	2	69,654,582 (GRCm39)	missense	probably damaging	1.00
R5852:Klhl23	UTSW	2	69,654,613 (GRCm39)	missense	probably benign	0.44
R6143:Klhl23	UTSW	2	69,664,040 (GRCm39)	missense	possibly damaging	0.65
R6151:Klhl23	UTSW	2	69,655,198 (GRCm39)	missense	probably damaging	0.99
R6277:Klhl23	UTSW	2	69,664,096 (GRCm39)	missense	probably damaging	1.00
R7030:Klhl23	UTSW	2	69,664,310 (GRCm39)	missense	probably damaging	1.00
R7303:Klhl23	UTSW	2	69,655,045 (GRCm39)	missense	probably benign	0.42
R7724:Klhl23	UTSW	2	69,655,056 (GRCm39)	missense	probably benign	0.00
R8330:Klhl23	UTSW	2	69,654,496 (GRCm39)	missense	probably damaging	0.98
R8913:Klhl23	UTSW	2	69,664,234 (GRCm39)	missense	probably damaging	1.00
R9067:Klhl23	UTSW	2	69,664,083 (GRCm39)	missense	possibly damaging	0.94
X0066:Klhl23	UTSW	2	69,654,132 (GRCm39)	start codon destroyed	possibly damaging	0.75

Predicted Primers

PCR Primer
(F):5'- TCCAGGTTTAAGGAAGTTTGGC -3'
(R):5'- TTGTCAAAGGGTCCCATATGTG -3'

Sequencing Primer
(F):5'- GTTTGGCAGCAAGAAGAATTTCTG -3'
(R):5'- TATGTGGACCTCTGATAAAGGATGCC -3'

Posted On

2022-10-06