Mutagenetix > Incidental Mutation

Incidental Mutation 'R3176:Klhl32'

475983

Institutional Source

Beutler Lab

Gene Symbol

Klhl32

Ensembl Gene

ENSMUSG00000040387

Gene Name

kelch-like 32

Synonyms

6430524H05Rik, D4Ertd389e, LOC384000

MMRRC Submission

040614-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

R3176 (G1)

Quality Score

216

Status

Not validated

Chromosome

Chromosomal Location

24612554-24851124 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 24682063 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 207 (I207V)

Ref Sequence

ENSEMBL: ENSMUSP00000103853 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084781] [ENSMUST00000108214] [ENSMUST00000108218] [ENSMUST00000140652] [ENSMUST00000150920]

AlphaFold

A2AJX0

Predicted Effect

probably benign
Transcript: ENSMUST00000084781
AA Change: I174V

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000081839
Gene: ENSMUSG00000040387
AA Change: I174V

Domain	Start	End	E-Value	Type
BTB	42	138	1.28e-22	SMART
BACK	111	212	3.17e-22	SMART
Kelch	257	313	4.07e-1	SMART
Kelch	314	365	3.57e-1	SMART
Kelch	366	413	3.77e-4	SMART
Kelch	414	461	7.04e-4	SMART
Kelch	462	514	6.47e-3	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000108213

Predicted Effect

probably benign
Transcript: ENSMUST00000108214
AA Change: I207V

PolyPhen 2 Score 0.336 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000103849
Gene: ENSMUSG00000040387
AA Change: I207V

Domain	Start	End	E-Value	Type
BTB	42	139	2.86e-25	SMART
BACK	144	225	3.31e-2	SMART
Blast:Kelch	233	285	1e-31	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000108218
AA Change: I207V

PolyPhen 2 Score 0.392 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000103853
Gene: ENSMUSG00000040387
AA Change: I207V

Domain	Start	End	E-Value	Type
BTB	42	139	2.86e-25	SMART
BACK	144	245	3.17e-22	SMART
Kelch	290	346	4.07e-1	SMART
Kelch	347	398	3.57e-1	SMART
Kelch	399	446	3.77e-4	SMART
Kelch	447	494	7.04e-4	SMART
Kelch	495	547	6.47e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000140652

SMART Domains

Protein: ENSMUSP00000137312
Gene: ENSMUSG00000040387

Domain	Start	End	E-Value	Type
BTB	42	139	2.14e-24	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000150920

SMART Domains

Protein: ENSMUSP00000135917
Gene: ENSMUSG00000040387

Domain	Start	End	E-Value	Type
Blast:BTB	1	49	4e-19	BLAST

Meta Mutation Damage Score

0.2761

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.3%

Validation Efficiency

100% (28/28)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	C	T	8: 87,233,495 (GRCm39)	R1269H	probably damaging	Het
Ace	A	G	11: 105,867,528 (GRCm39)	E164G	probably null	Het
Als2	A	T	1: 59,209,167 (GRCm39)	V1464E	possibly damaging	Het
Atox1	A	G	11: 55,341,379 (GRCm39)	L52P	possibly damaging	Het
Btnl10	A	G	11: 58,813,216 (GRCm39)	K282E	probably benign	Het
Cdkn3	T	C	14: 47,008,934 (GRCm39)		probably benign	Het
Ces2a	A	G	8: 105,466,010 (GRCm39)		probably benign	Het
Col16a1	A	G	4: 129,951,792 (GRCm39)	K72E	probably damaging	Het
Col6a5	G	A	9: 105,788,306 (GRCm39)	R1565*	probably null	Het
Col6a6	T	C	9: 105,663,429 (GRCm39)	H36R	probably benign	Het
Cyp4b1	T	C	4: 115,483,047 (GRCm39)	N415D	possibly damaging	Het
Dcp1a	A	G	14: 30,227,499 (GRCm39)		probably benign	Het
Dennd4a	G	T	9: 64,796,275 (GRCm39)	R767L	probably damaging	Het
Dhcr24	T	C	4: 106,418,436 (GRCm39)	F25L	probably benign	Het
Dhrs3	A	G	4: 144,650,510 (GRCm39)	T219A	probably benign	Het
Dhx58	A	G	11: 100,587,805 (GRCm39)	F584S	probably damaging	Het
Dmbt1	A	G	7: 130,689,801 (GRCm39)	T715A	probably benign	Het
Dtx3l	A	G	16: 35,752,543 (GRCm39)	S688P	probably benign	Het
Eogt	T	A	6: 97,108,355 (GRCm39)	I229F	probably benign	Het
Ern2	T	C	7: 121,780,187 (GRCm39)	T164A	possibly damaging	Het
Fam133b	A	T	5: 3,608,522 (GRCm39)	N84I	probably damaging	Het
Fbxl21	T	A	13: 56,684,935 (GRCm39)	Y346*	probably null	Het
Fcgbp	C	A	7: 27,791,086 (GRCm39)	H782Q	probably damaging	Het
Gm5592	A	G	7: 40,937,804 (GRCm39)	E362G	probably benign	Het
Gpatch2l	A	G	12: 86,291,089 (GRCm39)	T91A	possibly damaging	Het
Hao2	T	C	3: 98,787,644 (GRCm39)		probably benign	Het
Hsp90aa1	T	A	12: 110,662,114 (GRCm39)	M1L	possibly damaging	Het
Hsp90aa1	C	A	12: 110,662,115 (GRCm39)		probably null	Het
Itgad	C	A	7: 127,790,153 (GRCm39)	H651N	possibly damaging	Het
Itgav	A	G	2: 83,606,886 (GRCm39)	D409G	probably damaging	Het
Kcnt2	A	G	1: 140,537,377 (GRCm39)	N1119S	probably benign	Het
Kif15	T	C	9: 122,816,905 (GRCm39)		probably benign	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Lhfpl5	T	C	17: 28,798,920 (GRCm39)	I143T	possibly damaging	Het
Lrrk1	T	C	7: 65,955,269 (GRCm39)	K431E	possibly damaging	Het
Mag	C	T	7: 30,601,073 (GRCm39)		probably null	Het
Maml3	A	T	3: 51,764,351 (GRCm39)	N204K	possibly damaging	Het
Mmut	A	G	17: 41,269,763 (GRCm39)		probably null	Het
Mrpl19	T	C	6: 81,941,047 (GRCm39)	S115G	probably damaging	Het
Mthfd1l	G	C	10: 4,098,025 (GRCm39)	G954A	probably damaging	Het
Myo19	A	G	11: 84,783,001 (GRCm39)	I172V	probably benign	Het
Naca	T	C	10: 127,876,530 (GRCm39)		probably benign	Het
Nbeal2	G	A	9: 110,465,955 (GRCm39)		probably benign	Het
Nfatc2	T	C	2: 168,348,914 (GRCm39)	N638D	possibly damaging	Het
Or52r1c	C	A	7: 102,734,957 (GRCm39)	D72E	probably damaging	Het
Or8b49	T	A	9: 38,505,939 (GRCm39)	C141S	probably damaging	Het
Or9s27	A	G	1: 92,516,535 (GRCm39)	N161S	probably benign	Het
Padi6	A	G	4: 140,462,700 (GRCm39)	L307P	probably damaging	Het
Pafah1b1	G	A	11: 74,581,058 (GRCm39)	S57F	probably damaging	Het
Prcd	A	G	11: 116,550,637 (GRCm39)	E103G	possibly damaging	Het
Prkx	A	T	X: 76,814,881 (GRCm39)	F260I	probably damaging	Het
Rad54l2	A	G	9: 106,631,142 (GRCm39)		probably null	Het
Rb1cc1	T	A	1: 6,319,590 (GRCm39)	M1003K	probably benign	Het
Scap	A	T	9: 110,203,093 (GRCm39)	M256L	probably benign	Het
Sema4c	C	T	1: 36,588,960 (GRCm39)	R722H	possibly damaging	Het
Septin4	T	C	11: 87,458,070 (GRCm39)	V148A	possibly damaging	Het
Sgk1	C	T	10: 21,872,500 (GRCm39)	R171W	probably damaging	Het
Sp110	A	C	1: 85,505,050 (GRCm39)	F434C	probably benign	Het
Spata7	A	G	12: 98,603,857 (GRCm39)	N75D	possibly damaging	Het
Tmem120b	T	A	5: 123,252,167 (GRCm39)	I146N	probably damaging	Het
Ttc23l	A	G	15: 10,547,318 (GRCm39)	F99L	possibly damaging	Het
Ube3a	T	A	7: 58,926,267 (GRCm39)	C348*	probably null	Het
Ubr4	T	A	4: 139,149,166 (GRCm39)	D1777E	probably benign	Het
Unc79	C	A	12: 103,079,476 (GRCm39)	D1880E	probably damaging	Het
Usp36	C	T	11: 118,167,585 (GRCm39)		probably null	Het
Zswim9	T	C	7: 13,011,196 (GRCm39)	T51A	possibly damaging	Het

Other mutations in Klhl32

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00978:Klhl32	APN	4	24,682,245 (GRCm39)	missense	probably damaging	1.00
IGL02293:Klhl32	APN	4	24,626,935 (GRCm39)	missense	probably damaging	1.00
IGL02374:Klhl32	APN	4	24,743,856 (GRCm39)	critical splice donor site	probably null
IGL02824:Klhl32	APN	4	24,682,237 (GRCm39)	nonsense	probably null
IGL03211:Klhl32	APN	4	24,792,616 (GRCm39)	critical splice donor site	probably null
IGL03374:Klhl32	APN	4	24,649,533 (GRCm39)	intron	probably benign
R0071:Klhl32	UTSW	4	24,743,907 (GRCm39)	missense	probably damaging	0.98
R0478:Klhl32	UTSW	4	24,792,777 (GRCm39)	missense	probably damaging	1.00
R0856:Klhl32	UTSW	4	24,682,092 (GRCm39)	missense	probably damaging	1.00
R0908:Klhl32	UTSW	4	24,682,092 (GRCm39)	missense	probably damaging	1.00
R1882:Klhl32	UTSW	4	24,743,916 (GRCm39)	nonsense	probably null
R1927:Klhl32	UTSW	4	24,617,474 (GRCm39)	missense	probably benign	0.00
R2137:Klhl32	UTSW	4	24,629,275 (GRCm39)	nonsense	probably null
R3276:Klhl32	UTSW	4	24,682,063 (GRCm39)	missense	probably benign	0.39
R4059:Klhl32	UTSW	4	24,792,781 (GRCm39)	missense	probably damaging	1.00
R4246:Klhl32	UTSW	4	24,800,822 (GRCm39)	missense	possibly damaging	0.50
R4597:Klhl32	UTSW	4	24,629,339 (GRCm39)	missense	probably benign	0.21
R4801:Klhl32	UTSW	4	24,649,698 (GRCm39)	missense	possibly damaging	0.82
R4802:Klhl32	UTSW	4	24,649,698 (GRCm39)	missense	possibly damaging	0.82
R4929:Klhl32	UTSW	4	24,709,030 (GRCm39)	missense	probably damaging	1.00
R5654:Klhl32	UTSW	4	24,800,805 (GRCm39)	critical splice donor site	probably null
R6039:Klhl32	UTSW	4	24,792,615 (GRCm39)	critical splice donor site	probably null
R6039:Klhl32	UTSW	4	24,792,615 (GRCm39)	critical splice donor site	probably null
R6362:Klhl32	UTSW	4	24,629,195 (GRCm39)	missense	probably null	1.00
R6490:Klhl32	UTSW	4	24,711,578 (GRCm39)	intron	probably benign
R6948:Klhl32	UTSW	4	24,629,250 (GRCm39)	missense	probably benign	0.00
R6981:Klhl32	UTSW	4	24,709,030 (GRCm39)	missense	probably damaging	1.00
R8268:Klhl32	UTSW	4	24,800,843 (GRCm39)	start gained	probably benign
R8379:Klhl32	UTSW	4	24,629,194 (GRCm39)	missense	probably damaging	1.00
R8419:Klhl32	UTSW	4	24,682,203 (GRCm39)	missense	possibly damaging	0.93
R8553:Klhl32	UTSW	4	24,629,343 (GRCm39)	missense	probably benign	0.01
R9257:Klhl32	UTSW	4	24,649,608 (GRCm39)	missense	probably benign	0.00
R9460:Klhl32	UTSW	4	24,649,866 (GRCm39)	missense	probably benign	0.14
R9472:Klhl32	UTSW	4	24,629,273 (GRCm39)	missense	probably benign	0.13

Predicted Primers

Posted On

2017-05-11