Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02383:Klhl22'

291439

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Klhl22

Ensembl Gene

ENSMUSG00000022750

Gene Name

kelch-like 22

Synonyms

2610318I18Rik, Kelchl

Accession Numbers

Essential gene?

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

Stock #

IGL02383

Quality Score

Status

Chromosome

Chromosomal Location

17577485-17611246 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 17594762 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Tyrosine at position 297 (F297Y)

Ref Sequence

ENSEMBL: ENSMUSP00000114115 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000117192] [ENSMUST00000120488] [ENSMUST00000165790]

AlphaFold

Q99JN2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000117192
AA Change: F297Y

PolyPhen 2 Score 0.603 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000114115
Gene: ENSMUSG00000022750
AA Change: F297Y

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: F297Y

PolyPhen 2 Score 0.373 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000112412
Gene: ENSMUSG00000022750
AA Change: F297Y

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

noncoding transcript
Transcript: ENSMUST00000144116

Predicted Effect

probably benign
Transcript: ENSMUST00000165790
AA Change: F297Y

PolyPhen 2 Score 0.373 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000127227
Gene: ENSMUSG00000022750
AA Change: F297Y

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5530400C23Rik	T	C	6: 133,269,205 (GRCm39)		probably benign	Het
Adap2	C	A	11: 80,051,015 (GRCm39)	A115D	probably damaging	Het
Ankrd1	A	G	19: 36,097,165 (GRCm39)	V6A	probably benign	Het
Apobr	T	A	7: 126,185,779 (GRCm39)	V430E	probably benign	Het
Arhgap28	A	G	17: 68,203,084 (GRCm39)	V123A	probably benign	Het
Atp2b2	A	G	6: 113,790,903 (GRCm39)	V167A	probably damaging	Het
B3galnt2	A	T	13: 14,171,618 (GRCm39)	*505C	probably null	Het
Bcat2	T	A	7: 45,237,431 (GRCm39)	L305Q	probably damaging	Het
Coa8	T	A	12: 111,690,847 (GRCm39)		probably benign	Het
Col9a1	T	C	1: 24,224,339 (GRCm39)	S174P	unknown	Het
Ddx41	A	T	13: 55,680,170 (GRCm39)	D418E	probably benign	Het
Defa40	A	G	8: 21,740,377 (GRCm39)	D61G	probably damaging	Het
Exoc6	T	C	19: 37,566,922 (GRCm39)	F240L	probably benign	Het
Fbln7	G	A	2: 128,737,477 (GRCm39)	V431I	probably benign	Het
Gfral	T	A	9: 76,104,374 (GRCm39)	N213Y	probably damaging	Het
Golgb1	A	G	16: 36,706,562 (GRCm39)	D22G	probably benign	Het
H2-M1	G	A	17: 36,981,141 (GRCm39)	T298I	unknown	Het
Haus3	A	T	5: 34,323,580 (GRCm39)	Y343*	probably null	Het
Hid1	T	C	11: 115,243,446 (GRCm39)	E534G	probably damaging	Het
Il4ra	T	C	7: 125,170,676 (GRCm39)	V196A	probably benign	Het
Itm2b	C	A	14: 73,600,536 (GRCm39)	E255*	probably null	Het
Kidins220	A	T	12: 25,047,332 (GRCm39)		probably benign	Het
Krt9	T	C	11: 100,082,041 (GRCm39)	E253G	probably damaging	Het
Man2a2	G	A	7: 80,009,388 (GRCm39)	A822V	probably damaging	Het
Map3k6	T	A	4: 132,973,932 (GRCm39)		probably null	Het
Med29	C	A	7: 28,086,448 (GRCm39)	R120L	possibly damaging	Het
Napa	C	T	7: 15,846,503 (GRCm39)		probably benign	Het
Ncapd3	T	A	9: 26,961,624 (GRCm39)	Y351N	probably benign	Het
Nphs1	C	T	7: 30,181,060 (GRCm39)		probably benign	Het
Or5b94	A	G	19: 12,651,899 (GRCm39)	D110G	probably benign	Het
Prss16	T	C	13: 22,193,697 (GRCm39)	I33V	probably benign	Het
Ripk1	A	G	13: 34,199,227 (GRCm39)	Y193C	probably damaging	Het
Rph3a	C	T	5: 121,102,002 (GRCm39)	R78H	probably damaging	Het
Rrp9	T	A	9: 106,362,471 (GRCm39)	I452N	probably damaging	Het
Ryr2	A	T	13: 11,737,607 (GRCm39)		probably benign	Het
Sec23a	A	G	12: 59,048,813 (GRCm39)	L103P	probably damaging	Het
Slc17a9	A	C	2: 180,377,674 (GRCm39)	D190A	probably benign	Het
Slc44a4	G	A	17: 35,146,686 (GRCm39)	V422I	probably benign	Het
Smc5	C	T	19: 23,191,996 (GRCm39)		probably benign	Het
Tax1bp1	C	T	6: 52,730,351 (GRCm39)	S611F	probably benign	Het
Tmem38b	G	A	4: 53,854,345 (GRCm39)	M192I	probably benign	Het
Unc45a	G	T	7: 79,989,410 (GRCm39)	C34*	probably null	Het
Usp46	T	A	5: 74,190,014 (GRCm39)	M6L	probably benign	Het
Uspl1	G	A	5: 149,150,212 (GRCm39)	V471M	probably damaging	Het
Vmn1r35	T	A	6: 66,655,875 (GRCm39)	Q265L	probably damaging	Het
Vmn1r35	G	T	6: 66,655,876 (GRCm39)	Q265K	probably damaging	Het
Vmn1r50	A	G	6: 90,084,461 (GRCm39)	I69V	possibly damaging	Het
Vps33b	A	G	7: 79,935,082 (GRCm39)		probably null	Het
Xntrpc	A	C	7: 101,742,802 (GRCm39)	D604A	probably damaging	Het
Yeats4	T	A	10: 117,051,716 (GRCm39)	R180S	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
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
R8670:Klhl22	UTSW	16	17,594,327 (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

Posted On

2015-04-16