Mutagenetix > Incidental Mutation

Incidental Mutation 'R0538:Klhl23'

49543

Institutional Source

Beutler Lab

Gene Symbol

Klhl23

Ensembl Gene

ENSMUSG00000042155

Gene Name

kelch-like 23

Synonyms

MMRRC Submission

038730-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.186) question?

Stock #

R0538 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

69821944-69836651 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 69824413 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 209 (A209V)

Ref Sequence

ENSEMBL: ENSMUSP00000050219 (fasta)

Gene Model

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

AlphaFold

Q6GQU2

Predicted Effect

probably benign
Transcript: ENSMUST00000053087
AA Change: A209V

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000050219
Gene: ENSMUSG00000042155
AA Change: A209V

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135759

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152898

Meta Mutation Damage Score

0.0724

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.7%

Validation Efficiency

98% (126/129)

Allele List at MGI

Other mutations in this stock

Total: 129 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930578I07Rik	A	T	14: 66,938,374 (GRCm38)	H6L	unknown	Het
Abca13	G	A	11: 9,267,622 (GRCm38)		probably null	Het
Acad12	C	T	5: 121,607,448 (GRCm38)	R260Q	possibly damaging	Het
Actn1	G	A	12: 80,260,100 (GRCm38)		probably benign	Het
Acvrl1	A	G	15: 101,136,149 (GRCm38)	T182A	probably damaging	Het
Adam23	T	C	1: 63,567,844 (GRCm38)		probably benign	Het
Adamtsl1	A	T	4: 86,343,121 (GRCm38)	T1190S	probably benign	Het
Adh6b	A	T	3: 138,357,650 (GRCm38)	Y330F	probably benign	Het
Ak7	A	G	12: 105,766,617 (GRCm38)	E540G	probably damaging	Het
Akr1c19	T	A	13: 4,237,100 (GRCm38)	L106Q	probably damaging	Het
Ankrd12	A	T	17: 66,049,852 (GRCm38)	S57T	probably damaging	Het
Aoc3	G	A	11: 101,332,138 (GRCm38)	R400Q	possibly damaging	Het
Arel1	A	T	12: 84,941,837 (GRCm38)	I46N	probably damaging	Het
Armc5	A	G	7: 128,244,291 (GRCm38)	D752G	probably damaging	Het
Atp11b	T	C	3: 35,837,014 (GRCm38)	V812A	probably damaging	Het
Axin1	A	G	17: 26,184,241 (GRCm38)	H131R	possibly damaging	Het
Bpifb3	A	G	2: 153,923,869 (GRCm38)	E184G	probably benign	Het
Cacna2d2	T	C	9: 107,524,383 (GRCm38)		probably benign	Het
Catsperd	T	C	17: 56,662,828 (GRCm38)	F641L	probably benign	Het
Ccdc83	A	C	7: 90,228,383 (GRCm38)	L284V	probably damaging	Het
Ccnt2	T	A	1: 127,803,165 (GRCm38)	V593E	probably damaging	Het
Cd53	T	A	3: 106,762,128 (GRCm38)	I185F	probably benign	Het
Cep350	A	T	1: 155,848,620 (GRCm38)	D3077E	possibly damaging	Het
Ces1h	C	A	8: 93,357,000 (GRCm38)		probably null	Het
Chrna3	T	A	9: 55,016,006 (GRCm38)	T173S	probably benign	Het
Clca4b	T	C	3: 144,921,956 (GRCm38)	D418G	probably benign	Het
Col11a2	T	C	17: 34,051,328 (GRCm38)		probably benign	Het
Coq2	T	A	5: 100,668,023 (GRCm38)	I97F	possibly damaging	Het
Cr2	A	G	1: 195,160,359 (GRCm38)		probably benign	Het
Ctgf	T	A	10: 24,596,466 (GRCm38)	C136S	probably damaging	Het
D2hgdh	A	G	1: 93,826,377 (GRCm38)	Y24C	probably damaging	Het
D630045J12Rik	G	A	6: 38,191,693 (GRCm38)	R974C	probably damaging	Het
Dach1	A	G	14: 97,903,279 (GRCm38)	V429A	possibly damaging	Het
Ddr1	G	A	17: 35,685,007 (GRCm38)	T660I	probably damaging	Het
Dlg1	A	C	16: 31,796,864 (GRCm38)		probably null	Het
Dmbt1	T	C	7: 131,049,901 (GRCm38)		probably benign	Het
Dmxl2	A	T	9: 54,393,836 (GRCm38)	D2330E	probably benign	Het
Doc2a	A	G	7: 126,848,811 (GRCm38)	T5A	probably benign	Het
Dock2	G	A	11: 34,704,718 (GRCm38)		probably benign	Het
Dok4	T	A	8: 94,865,238 (GRCm38)	Y290F	probably damaging	Het
Dopey1	A	G	9: 86,485,497 (GRCm38)	D11G	probably damaging	Het
E230025N22Rik	T	C	18: 36,688,934 (GRCm38)	H235R	probably benign	Het
Ear6	A	G	14: 51,854,452 (GRCm38)	D152G	probably damaging	Het
Ecscr	T	A	18: 35,713,636 (GRCm38)		probably benign	Het
Eml6	A	T	11: 29,760,010 (GRCm38)		probably benign	Het
Epha4	T	A	1: 77,388,541 (GRCm38)	Q607L	probably damaging	Het
Exoc4	A	G	6: 33,972,063 (GRCm38)	N947S	probably benign	Het
Flg	A	G	3: 93,279,460 (GRCm38)	E73G	probably damaging	Het
Fndc1	C	T	17: 7,784,341 (GRCm38)		probably benign	Het
Gad1-ps	T	C	10: 99,444,992 (GRCm38)		noncoding transcript	Het
Gata6	A	G	18: 11,064,771 (GRCm38)	T528A	probably benign	Het
Gjd4	T	C	18: 9,280,244 (GRCm38)	E278G	probably benign	Het
Gm13101	T	A	4: 143,965,083 (GRCm38)	T357S	possibly damaging	Het
Gm20091	T	A	10: 96,409,002 (GRCm38)		noncoding transcript	Het
Gnb3	G	A	6: 124,835,696 (GRCm38)	Q266*	probably null	Het
Grm3	A	G	5: 9,512,446 (GRCm38)	V468A	possibly damaging	Het
Igf1r	C	T	7: 68,207,826 (GRCm38)	R1085C	probably damaging	Het
Igsf10	T	C	3: 59,320,106 (GRCm38)	T2049A	probably damaging	Het
Jak3	A	T	8: 71,685,482 (GRCm38)	D859V	probably benign	Het
Kcnb2	G	T	1: 15,712,884 (GRCm38)		probably benign	Het
Kcnh3	G	A	15: 99,240,958 (GRCm38)	G858D	probably benign	Het
Kif1a	C	A	1: 93,043,638 (GRCm38)	R1006L	probably damaging	Het
Mapk13	T	C	17: 28,775,255 (GRCm38)	Y104H	probably damaging	Het
Mbd4	A	G	6: 115,849,482 (GRCm38)	S183P	probably damaging	Het
Mga	T	C	2: 119,919,706 (GRCm38)		probably null	Het
Mipol1	G	A	12: 57,414,411 (GRCm38)		probably null	Het
Mmp14	A	G	14: 54,438,709 (GRCm38)	T299A	possibly damaging	Het
Mmrn1	A	G	6: 60,976,469 (GRCm38)	E578G	probably benign	Het
Mov10l1	G	A	15: 88,994,860 (GRCm38)	C193Y	possibly damaging	Het
Mppe1	A	G	18: 67,237,477 (GRCm38)	C50R	probably damaging	Het
Msantd1	C	A	5: 34,917,725 (GRCm38)	R44S	probably damaging	Het
Myt1l	T	C	12: 29,842,571 (GRCm38)	V69A	possibly damaging	Het
Nav1	A	T	1: 135,464,692 (GRCm38)		probably benign	Het
Ncan	A	G	8: 70,108,602 (GRCm38)	S572P	possibly damaging	Het
Nck2	T	C	1: 43,569,144 (GRCm38)		probably benign	Het
Nemf	A	T	12: 69,356,314 (GRCm38)	D31E	probably damaging	Het
Nlrp12	T	C	7: 3,249,262 (GRCm38)	D93G	possibly damaging	Het
Nsmaf	A	T	4: 6,419,930 (GRCm38)		probably null	Het
Nup98	T	C	7: 102,186,685 (GRCm38)	T184A	probably damaging	Het
Olfr1415	A	T	1: 92,491,333 (GRCm38)	C141S	possibly damaging	Het
Olfr46	A	T	7: 140,610,384 (GRCm38)	N73Y	probably damaging	Het
Olfr522	A	T	7: 140,162,231 (GRCm38)	S240T	probably damaging	Het
Oog2	C	A	4: 144,196,084 (GRCm38)	Y306*	probably null	Het
Osmr	A	G	15: 6,841,938 (GRCm38)		probably benign	Het
P2rx6	A	G	16: 17,568,298 (GRCm38)	N275S	probably benign	Het
Papd4	A	T	13: 93,175,615 (GRCm38)		probably benign	Het
Pbxip1	G	T	3: 89,447,619 (GRCm38)	G482W	possibly damaging	Het
Pcsk4	T	G	10: 80,325,334 (GRCm38)	I249L	probably damaging	Het
Pou4f2	C	T	8: 78,435,662 (GRCm38)	G104E	probably damaging	Het
Prkdc	G	T	16: 15,833,788 (GRCm38)	R3763L	probably damaging	Het
Ptpre	A	T	7: 135,663,315 (GRCm38)	I207F	probably damaging	Het
Rapgef3	A	T	15: 97,757,817 (GRCm38)		probably benign	Het
Rasgrp1	T	G	2: 117,284,947 (GRCm38)	K685T	probably benign	Het
Rnf148	C	T	6: 23,654,238 (GRCm38)	R253Q	probably damaging	Het
Rock1	T	C	18: 10,132,227 (GRCm38)	I241V	possibly damaging	Het
Rp1l1	T	G	14: 64,022,092 (GRCm38)	V61G	probably damaging	Het
Scin	A	C	12: 40,081,771 (GRCm38)	S255A	probably damaging	Het
Scn8a	A	T	15: 101,035,624 (GRCm38)	K1570*	probably null	Het
Sec14l4	A	C	11: 4,040,018 (GRCm38)	M106L	probably benign	Het
Sec63	G	A	10: 42,798,799 (GRCm38)	R226H	probably benign	Het
Sept2	T	A	1: 93,501,623 (GRCm38)	N271K	probably damaging	Het
Serac1	G	T	17: 6,048,826 (GRCm38)		probably benign	Het
Shc2	T	A	10: 79,630,140 (GRCm38)		probably benign	Het
Sipa1l1	T	A	12: 82,425,099 (GRCm38)	D1284E	probably benign	Het
Slc11a2	A	G	15: 100,408,216 (GRCm38)	L105P	probably damaging	Het
Slc1a3	T	A	15: 8,650,922 (GRCm38)	T151S	probably benign	Het
Smarca2	G	T	19: 26,691,362 (GRCm38)	K920N	probably damaging	Het
Sugp2	G	A	8: 70,258,948 (GRCm38)	E964K	probably damaging	Het
Tas2r122	A	C	6: 132,711,815 (GRCm38)	N38K	probably benign	Het
Tecpr1	G	A	5: 144,206,274 (GRCm38)	R730C	probably damaging	Het
Themis3	G	T	17: 66,593,270 (GRCm38)	N34K	possibly damaging	Het
Traf3ip1	A	G	1: 91,499,619 (GRCm38)	T104A	unknown	Het
Trappc11	A	G	8: 47,503,412 (GRCm38)	V843A	probably benign	Het
Trmt61a	T	A	12: 111,678,927 (GRCm38)	L99Q	probably damaging	Het
Trp53tg5	T	A	2: 164,471,481 (GRCm38)	K91N	probably damaging	Het
Ufsp2	T	C	8: 45,992,150 (GRCm38)	S339P	probably damaging	Het
Usp20	T	A	2: 31,004,450 (GRCm38)	V126E	probably damaging	Het
Vmn1r75	T	A	7: 11,880,870 (GRCm38)	N176K	probably damaging	Het
Vmn2r24	A	G	6: 123,816,053 (GRCm38)	S780G	probably benign	Het
Vmn2r89	A	G	14: 51,457,591 (GRCm38)		probably null	Het
Vps13d	A	T	4: 145,045,095 (GRCm38)	S4038T	probably damaging	Het
Vwa7	A	G	17: 35,022,651 (GRCm38)	T421A	probably damaging	Het
Wdr78	T	C	4: 103,096,618 (GRCm38)	N128S	possibly damaging	Het
Wdr95	C	A	5: 149,580,806 (GRCm38)	L332I	probably damaging	Het
Wrn	T	A	8: 33,336,091 (GRCm38)	K181I	probably damaging	Het
Zc3h6	T	A	2: 129,017,223 (GRCm38)	I1058N	possibly damaging	Het
Zfp423	T	A	8: 87,782,085 (GRCm38)	I544F	probably damaging	Het
Zfp446	T	A	7: 12,979,589 (GRCm38)	S161T	possibly damaging	Het
Zmym6	T	A	4: 127,123,369 (GRCm38)	M889K	probably benign	Het

Other mutations in Klhl23

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02582:Klhl23	APN	2	69,824,238 (GRCm38)	missense	probably damaging	1.00
IGL02637:Klhl23	APN	2	69,828,914 (GRCm38)	nonsense	probably null
R0128:Klhl23	UTSW	2	69,833,966 (GRCm38)	missense	probably damaging	0.97
R0130:Klhl23	UTSW	2	69,833,966 (GRCm38)	missense	probably damaging	0.97
R0333:Klhl23	UTSW	2	69,833,897 (GRCm38)	missense	probably damaging	1.00
R1466:Klhl23	UTSW	2	69,833,888 (GRCm38)	missense	probably damaging	1.00
R1466:Klhl23	UTSW	2	69,833,888 (GRCm38)	missense	probably damaging	1.00
R1584:Klhl23	UTSW	2	69,833,888 (GRCm38)	missense	probably damaging	1.00
R1970:Klhl23	UTSW	2	69,833,686 (GRCm38)	missense	probably damaging	1.00
R2102:Klhl23	UTSW	2	69,828,884 (GRCm38)	missense	probably damaging	1.00
R4236:Klhl23	UTSW	2	69,824,172 (GRCm38)	missense	probably damaging	0.98
R4473:Klhl23	UTSW	2	69,823,807 (GRCm38)	missense	possibly damaging	0.67
R5446:Klhl23	UTSW	2	69,824,238 (GRCm38)	missense	probably damaging	1.00
R5852:Klhl23	UTSW	2	69,824,269 (GRCm38)	missense	probably benign	0.44
R6143:Klhl23	UTSW	2	69,833,696 (GRCm38)	missense	possibly damaging	0.65
R6151:Klhl23	UTSW	2	69,824,854 (GRCm38)	missense	probably damaging	0.99
R6277:Klhl23	UTSW	2	69,833,752 (GRCm38)	missense	probably damaging	1.00
R7030:Klhl23	UTSW	2	69,833,966 (GRCm38)	missense	probably damaging	1.00
R7303:Klhl23	UTSW	2	69,824,701 (GRCm38)	missense	probably benign	0.42
R7724:Klhl23	UTSW	2	69,824,712 (GRCm38)	missense	probably benign	0.00
R8330:Klhl23	UTSW	2	69,824,152 (GRCm38)	missense	probably damaging	0.98
R8913:Klhl23	UTSW	2	69,833,890 (GRCm38)	missense	probably damaging	1.00
R9067:Klhl23	UTSW	2	69,833,739 (GRCm38)	missense	possibly damaging	0.94
R9720:Klhl23	UTSW	2	69,824,460 (GRCm38)	missense	possibly damaging	0.78
X0066:Klhl23	UTSW	2	69,823,788 (GRCm38)	start codon destroyed	possibly damaging	0.75

Predicted Primers

PCR Primer
(F):5'- ACAGAGCCTTCTTGAAGCAGCG -3'
(R):5'- AGGATGCCAGTAGTAGCCTCCAATG -3'

Sequencing Primer
(F):5'- AACTGTATCGGGATGCACTC -3'
(R):5'- CCTCCAATGATATACATGGTGGC -3'

Posted On

2013-06-12