Mutagenetix > Incidental Mutation

Incidental Mutation 'R8732:Klhl22'

662832

Institutional Source

Beutler Lab

Gene Symbol

Klhl22

Ensembl Gene

ENSMUSG00000022750

Gene Name

kelch-like 22

Synonyms

2610318I18Rik, Kelchl

MMRRC Submission

068580-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.226) question?

Stock #

R8732 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

17577485-17611246 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 17589690 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 117 (L117Q)

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: L117Q

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000112412
Gene: ENSMUSG00000022750
AA Change: L117Q

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 damaging
Transcript: ENSMUST00000129199
AA Change: L117Q

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000119191
Gene: ENSMUSG00000022750
AA Change: L117Q

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000140306
AA Change: L117Q

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000122145
Gene: ENSMUSG00000022750
AA Change: L117Q

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000165790
AA Change: L117Q

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000127227
Gene: ENSMUSG00000022750
AA Change: L117Q

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

Meta Mutation Damage Score

0.5121

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.0%

Validation Efficiency

98% (63/64)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adtrp	A	T	13: 41,981,622 (GRCm39)	N82K	probably damaging	Het
Ankrd36	T	A	11: 5,578,906 (GRCm39)	S57T	possibly damaging	Het
Aoc3	A	G	11: 101,222,643 (GRCm39)	N293S	probably benign	Het
Aup1	A	T	6: 83,033,602 (GRCm39)	H302L	probably damaging	Het
Bptf	G	A	11: 106,931,206 (GRCm39)	R277W	probably damaging	Het
Cald1	A	G	6: 34,734,946 (GRCm39)	I346V	unknown	Het
Cd44	T	C	2: 102,664,645 (GRCm39)	T519A	possibly damaging	Het
Cela1	A	G	15: 100,580,766 (GRCm39)		probably null	Het
Ces2g	T	C	8: 105,689,195 (GRCm39)	V57A	possibly damaging	Het
Cpt1b	G	C	15: 89,308,628 (GRCm39)	T100S	probably benign	Het
D6Wsu163e	A	T	6: 126,932,859 (GRCm39)	I361F	possibly damaging	Het
Dock5	A	T	14: 68,083,449 (GRCm39)	D153E	possibly damaging	Het
Dync2h1	G	T	9: 7,168,326 (GRCm39)	R430S	probably damaging	Het
Dync2i2	T	A	2: 29,922,220 (GRCm39)	T414S	possibly damaging	Het
Efcab3	T	A	11: 104,695,100 (GRCm39)	F1730L	probably benign	Het
Eml5	C	T	12: 98,782,218 (GRCm39)	G1405R	probably damaging	Het
Ergic2	G	A	6: 148,102,975 (GRCm39)	A91V	probably damaging	Het
Fancl	A	T	11: 26,419,754 (GRCm39)	I336L	probably benign	Het
Fpr3	A	G	17: 18,191,223 (GRCm39)	T165A	possibly damaging	Het
Gon4l	A	G	3: 88,807,291 (GRCm39)	I1662V	possibly damaging	Het
Gpr153	C	T	4: 152,363,558 (GRCm39)		probably benign	Het
Hdac4	C	A	1: 91,875,239 (GRCm39)	A911S	probably damaging	Het
Ighd	T	C	12: 113,378,183 (GRCm39)	N139D		Het
Kntc1	A	G	5: 123,928,180 (GRCm39)	S1226G	probably benign	Het
Lama5	A	T	2: 179,828,481 (GRCm39)	C2126S	probably damaging	Het
Ldlr	A	G	9: 21,650,985 (GRCm39)	I468V	probably benign	Het
Lmtk3	G	A	7: 45,447,712 (GRCm39)	A1253T	unknown	Het
Lta	T	A	17: 35,423,045 (GRCm39)	N93Y	probably damaging	Het
Macf1	A	T	4: 123,403,563 (GRCm39)		probably null	Het
Mink1	A	G	11: 70,500,902 (GRCm39)		probably null	Het
Myl10	G	C	5: 136,726,825 (GRCm39)	V70L	probably benign	Het
Ntpcr	A	G	8: 126,472,074 (GRCm39)	M132V	probably benign	Het
Or14a257	A	G	7: 86,138,061 (GRCm39)	S233P	probably damaging	Het
Or52n1	A	G	7: 104,383,115 (GRCm39)	M152T	probably benign	Het
Or7g32	T	C	9: 19,408,098 (GRCm39)	I18T	probably benign	Het
Padi2	A	G	4: 140,660,590 (GRCm39)	I357V	probably benign	Het
Pax7	G	T	4: 139,506,920 (GRCm39)	H372Q	probably benign	Het
Paxip1	A	G	5: 27,949,541 (GRCm39)	Y966H	probably damaging	Het
Pde4b	A	C	4: 102,412,822 (GRCm39)	D199A	probably null	Het
Pkd1l2	T	C	8: 117,792,311 (GRCm39)	N494D	probably benign	Het
Prdm2	G	T	4: 142,862,580 (GRCm39)	Q237K	probably benign	Het
Prune2	T	C	19: 17,097,769 (GRCm39)	L1091P	probably damaging	Het
Rab9	C	T	X: 165,240,754 (GRCm39)	D186N	probably benign	Het
Rassf5	A	G	1: 131,106,264 (GRCm39)	*414Q	probably null	Het
Repin1	G	T	6: 48,574,279 (GRCm39)	E403*	probably null	Het
Rrp9	C	A	9: 106,360,388 (GRCm39)	T238K	probably benign	Het
Slc44a2	A	G	9: 21,259,882 (GRCm39)	D630G	probably benign	Het
Slc7a9	A	G	7: 35,156,443 (GRCm39)	D295G	probably benign	Het
Slco3a1	A	T	7: 73,934,054 (GRCm39)	M706K	possibly damaging	Het
Spag9	T	C	11: 93,962,514 (GRCm39)		probably null	Het
Stam2	A	T	2: 52,590,180 (GRCm39)	Y394N	probably damaging	Het
Stard9	T	C	2: 120,510,442 (GRCm39)	L341P	probably damaging	Het
Steap3	A	T	1: 120,171,624 (GRCm39)	H160Q	probably damaging	Het
Stxbp5l	A	T	16: 37,061,809 (GRCm39)	C334S	probably benign	Het
Tcof1	G	C	18: 60,962,123 (GRCm39)	A702G	possibly damaging	Het
Thap1	CAGCATCTGCTCGGAGCA	CAGCA	8: 26,650,884 (GRCm39)		probably null	Het
Tmem74	A	T	15: 43,731,456 (GRCm39)		probably benign	Het
Ttn	T	C	2: 76,537,480 (GRCm39)	K34816R	possibly damaging	Het
Ttn	T	A	2: 76,627,735 (GRCm39)	N14736I	probably damaging	Het
Vmn1r183	A	G	7: 23,754,890 (GRCm39)	Q231R	possibly damaging	Het
Vmn1r235	A	G	17: 21,482,439 (GRCm39)	T255A	probably damaging	Het
Wasl	A	T	6: 24,619,209 (GRCm39)	I437K	unknown	Het
Ywhae	A	G	11: 75,642,769 (GRCm39)	N43D	probably damaging	Het
Zfp583	A	T	7: 6,320,210 (GRCm39)	Y267*	probably null	Het
Zfp608	C	T	18: 55,121,072 (GRCm39)	G172R	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
R8670:Klhl22	UTSW	16	17,594,327 (GRCm39)	missense	probably damaging	0.99
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'- TCAAGTTCTGGACTGAGTAACTC -3'
(R):5'- AGGAATTTGGGGTCACTCTGC -3'

Sequencing Primer
(F):5'- CTGGACTGAGTAACTCTTAGTGCC -3'
(R):5'- GCTTTAGTTCCCAAGGCTCAACAG -3'

Posted On

2021-03-08