Mutagenetix > Incidental Mutation

Incidental Mutation 'R8670:Klhl22'

661123

Institutional Source

Beutler Lab

Gene Symbol

Klhl22

Ensembl Gene

ENSMUSG00000022750

Gene Name

kelch-like 22

Synonyms

2610318I18Rik, Kelchl

MMRRC Submission

068525-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.203) question?

Stock #

R8670 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

17577485-17611246 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 17594327 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 152 (I152N)

Ref Sequence

ENSEMBL: ENSMUSP00000112412 (fasta)

Gene Model

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

AlphaFold

Q99JN2

Predicted Effect

probably damaging
Transcript: ENSMUST00000120488
AA Change: I152N

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000112412
Gene: ENSMUSG00000022750
AA Change: I152N

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

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

probably damaging
Transcript: ENSMUST00000165790
AA Change: I152N

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000127227
Gene: ENSMUSG00000022750
AA Change: I152N

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

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 96.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	A	T	11: 109,966,424 (GRCm39)	L403Q	probably damaging	Het
Actl11	T	C	9: 107,805,959 (GRCm39)	F94S	possibly damaging	Het
Adam34	C	T	8: 44,105,126 (GRCm39)	C173Y	possibly damaging	Het
Ankrd24	C	T	10: 81,465,526 (GRCm39)		probably benign	Het
Armh2	A	G	13: 24,930,240 (GRCm39)	E162G	probably benign	Het
Atp12a	A	T	14: 56,617,546 (GRCm39)	D612V	probably damaging	Het
Cacna2d1	T	C	5: 16,140,013 (GRCm39)	M1T	probably null	Het
Ccdc178	T	C	18: 22,230,719 (GRCm39)	E384G	possibly damaging	Het
Cd82	T	A	2: 93,250,905 (GRCm39)	T212S	probably benign	Het
Cdk17	T	A	10: 93,061,958 (GRCm39)	L263*	probably null	Het
Cfap57	T	G	4: 118,472,122 (GRCm39)	I86L	possibly damaging	Het
Chd5	T	C	4: 152,469,953 (GRCm39)	M1842T	possibly damaging	Het
Clcn7	T	C	17: 25,378,588 (GRCm39)	F691S	probably damaging	Het
Cpvl	A	T	6: 53,951,780 (GRCm39)	M1K	probably null	Het
Cym	T	C	3: 107,118,812 (GRCm39)		probably null	Het
Diaph3	T	C	14: 86,893,835 (GRCm39)	E1147G	probably benign	Het
Eif4g3	T	G	4: 137,885,823 (GRCm39)		probably null	Het
Esp3	A	G	17: 40,943,040 (GRCm39)	D11G	probably benign	Het
Exoc1	A	G	5: 76,717,505 (GRCm39)	Y865C	probably damaging	Het
Flg2	A	T	3: 93,108,791 (GRCm39)	Q273L	probably damaging	Het
Fuca1	G	A	4: 135,650,282 (GRCm39)	V118I	possibly damaging	Het
Gga3	T	C	11: 115,478,542 (GRCm39)	N417D	probably benign	Het
Il1rl1	A	T	1: 40,480,559 (GRCm39)	I63F	probably damaging	Het
Kif26b	A	G	1: 178,741,349 (GRCm39)	Y785C	probably damaging	Het
Kif5b	A	C	18: 6,214,631 (GRCm39)	S599A	probably benign	Het
Mex3c	GC	G	18: 73,722,776 (GRCm39)		probably null	Het
Muc21	T	A	17: 35,932,540 (GRCm39)	T549S	unknown	Het
Or52n2c	A	T	7: 104,574,419 (GRCm39)	M184K	probably damaging	Het
Or8g2	A	G	9: 39,821,719 (GRCm39)	I207V	probably benign	Het
Orc3	A	T	4: 34,572,529 (GRCm39)	I633N	probably damaging	Het
Pclo	G	A	5: 14,732,061 (GRCm39)	R3521H	unknown	Het
Plec	A	G	15: 76,061,726 (GRCm39)	L2737P	probably damaging	Het
Prom1	T	A	5: 44,159,186 (GRCm39)	I813F	probably benign	Het
Prpf40b	T	A	15: 99,207,621 (GRCm39)	M517K	probably damaging	Het
Rab8a	TA	TAA	8: 72,925,130 (GRCm39)		probably null	Het
Rnf213	T	C	11: 119,349,563 (GRCm39)	L3808P		Het
Scnn1b	A	G	7: 121,498,472 (GRCm39)	K4R	probably benign	Het
Siglec1	A	G	2: 130,923,387 (GRCm39)	S453P	probably damaging	Het
Sim1	A	G	10: 50,784,849 (GRCm39)	K165E	probably damaging	Het
Slc49a4	G	T	16: 35,556,005 (GRCm39)	Q152K	possibly damaging	Het
Slco1a7	G	A	6: 141,711,468 (GRCm39)	T81I	possibly damaging	Het
Smarce1	T	C	11: 99,101,098 (GRCm39)	T345A	possibly damaging	Het
Spty2d1	T	C	7: 46,647,519 (GRCm39)	N470S	probably benign	Het
Stab2	T	A	10: 86,776,587 (GRCm39)	D763V	probably damaging	Het
Tbl1xr1	A	T	3: 22,245,164 (GRCm39)	E171D	probably damaging	Het
Tenm4	C	T	7: 96,555,148 (GRCm39)	P2618S	probably benign	Het
Tex15	T	A	8: 34,064,746 (GRCm39)	I1392K	probably benign	Het
Thada	T	C	17: 84,739,774 (GRCm39)	E827G	probably benign	Het
Ttc3	A	G	16: 94,191,067 (GRCm39)	Y185C	probably damaging	Het
Vmn2r18	C	A	5: 151,485,854 (GRCm39)	D547Y	probably damaging	Het
Wdpcp	T	C	11: 21,645,196 (GRCm39)	V208A	probably benign	Het
Zfp322a	T	A	13: 23,541,274 (GRCm39)	Q156L	possibly damaging	Het
Zfp947	T	C	17: 22,364,687 (GRCm39)	D329G	probably benign	Het

Other mutations in Klhl22

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01958:Klhl22	APN	16	17,594,326 (GRCm39)	missense	probably benign	0.03
IGL01973:Klhl22	APN	16	17,610,575 (GRCm39)	missense	probably benign	0.00
IGL02115:Klhl22	APN	16	17,594,459 (GRCm39)	missense	probably damaging	0.99
IGL02383:Klhl22	APN	16	17,594,762 (GRCm39)	missense	possibly damaging	0.60
IGL03381:Klhl22	APN	16	17,610,591 (GRCm39)	missense	possibly damaging	0.71
R0562:Klhl22	UTSW	16	17,610,488 (GRCm39)	missense	probably benign
R0811:Klhl22	UTSW	16	17,610,453 (GRCm39)	missense	probably benign	0.01
R0812:Klhl22	UTSW	16	17,610,453 (GRCm39)	missense	probably benign	0.01
R1661:Klhl22	UTSW	16	17,594,352 (GRCm39)	missense	probably benign	0.01
R1665:Klhl22	UTSW	16	17,594,352 (GRCm39)	missense	probably benign	0.01
R1732:Klhl22	UTSW	16	17,594,888 (GRCm39)	missense	probably damaging	1.00
R1902:Klhl22	UTSW	16	17,589,651 (GRCm39)	missense	probably damaging	1.00
R2042:Klhl22	UTSW	16	17,610,284 (GRCm39)	unclassified	probably benign
R2083:Klhl22	UTSW	16	17,594,389 (GRCm39)	missense	probably benign
R4368:Klhl22	UTSW	16	17,607,137 (GRCm39)	missense	possibly damaging	0.94
R4860:Klhl22	UTSW	16	17,594,880 (GRCm39)	synonymous	silent
R6413:Klhl22	UTSW	16	17,607,181 (GRCm39)	missense	probably benign	0.01
R7031:Klhl22	UTSW	16	17,594,890 (GRCm39)	missense	probably damaging	1.00
R7095:Klhl22	UTSW	16	17,610,614 (GRCm39)	missense	probably damaging	0.98
R7378:Klhl22	UTSW	16	17,594,669 (GRCm39)	missense	probably damaging	1.00
R7565:Klhl22	UTSW	16	17,607,148 (GRCm39)	missense	probably damaging	1.00
R8051:Klhl22	UTSW	16	17,610,443 (GRCm39)	missense	probably damaging	0.99
R8153:Klhl22	UTSW	16	17,610,414 (GRCm39)	missense	probably damaging	0.99
R8732:Klhl22	UTSW	16	17,589,690 (GRCm39)	missense	probably damaging	0.98
R9003:Klhl22	UTSW	16	17,589,612 (GRCm39)	missense	probably damaging	0.99
R9168:Klhl22	UTSW	16	17,602,068 (GRCm39)	missense	probably damaging	1.00
R9225:Klhl22	UTSW	16	17,594,617 (GRCm39)	missense	probably damaging	0.96
R9487:Klhl22	UTSW	16	17,589,663 (GRCm39)	missense	probably benign	0.10
R9603:Klhl22	UTSW	16	17,594,915 (GRCm39)	missense	possibly damaging	0.92
Z1088:Klhl22	UTSW	16	17,594,407 (GRCm39)	missense	possibly damaging	0.86
Z1176:Klhl22	UTSW	16	17,594,560 (GRCm39)	missense	probably benign	0.16

Predicted Primers

PCR Primer
(F):5'- AACATGCCCTGTGTTACCAC -3'
(R):5'- AAACCTCCAGGCGATTGCTG -3'

Sequencing Primer
(F):5'- CAGCAGGTTTTAAACTAAGCCTACAG -3'
(R):5'- TGCTGAGGAGAGAGTAGACCTTCTC -3'

Posted On

2021-03-08