Mutagenetix > Incidental Mutation

Incidental Mutation 'R2137:Klhl32'

235866

Institutional Source

Beutler Lab

Gene Symbol

Klhl32

Ensembl Gene

ENSMUSG00000040387

Gene Name

kelch-like 32

Synonyms

6430524H05Rik, D4Ertd389e, LOC384000

MMRRC Submission

040140-MU

Accession Numbers

Essential gene?

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

Stock #

R2137 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

24612554-24851124 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 24629275 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 497 (Y497*)

Ref Sequence

ENSEMBL: ENSMUSP00000103853 (fasta)

Gene Model

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

AlphaFold

A2AJX0

Predicted Effect

probably null
Transcript: ENSMUST00000084781
AA Change: Y464*

SMART Domains

Protein: ENSMUSP00000081839
Gene: ENSMUSG00000040387
AA Change: Y464*

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

probably null
Transcript: ENSMUST00000108214
AA Change: Y235*

SMART Domains

Protein: ENSMUSP00000103849
Gene: ENSMUSG00000040387
AA Change: Y235*

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 null
Transcript: ENSMUST00000108218
AA Change: Y497*

SMART Domains

Protein: ENSMUSP00000103853
Gene: ENSMUSG00000040387
AA Change: Y497*

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

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

97% (60/62)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd24	C	T	10: 81,482,143 (GRCm39)	T88I	probably damaging	Het
Atm	A	T	9: 53,364,675 (GRCm39)	V49D	probably damaging	Het
Bub1b	G	T	2: 118,467,199 (GRCm39)	E841*	probably null	Het
Cdh20	A	T	1: 110,027,836 (GRCm39)	N527I	probably damaging	Het
Cdh22	G	A	2: 164,958,314 (GRCm39)		probably benign	Het
Cog1	T	C	11: 113,550,127 (GRCm39)	L262P	probably damaging	Het
Col22a1	T	C	15: 71,878,797 (GRCm39)	H120R	possibly damaging	Het
Col4a2	T	C	8: 11,483,749 (GRCm39)	S890P	probably benign	Het
Cubn	T	C	2: 13,340,978 (GRCm39)	I2248V	probably benign	Het
Evpl	T	C	11: 116,112,665 (GRCm39)	E1675G	probably damaging	Het
Faiml	G	A	9: 99,114,545 (GRCm39)	P115S	probably benign	Het
Fgg	A	T	3: 82,915,745 (GRCm39)	D62V	possibly damaging	Het
Gak	C	T	5: 108,754,743 (GRCm39)		probably null	Het
Galntl6	C	T	8: 58,988,939 (GRCm39)		probably null	Het
Glyr1	T	C	16: 4,836,346 (GRCm39)	Y501C	probably benign	Het
Gm9847	G	T	12: 14,545,082 (GRCm39)		noncoding transcript	Het
Gria4	T	G	9: 4,427,026 (GRCm39)		probably benign	Het
Il36b	A	G	2: 24,044,672 (GRCm39)	N24S	probably benign	Het
Il6st	C	A	13: 112,639,392 (GRCm39)	H606N	possibly damaging	Het
Itprid1	A	G	6: 55,866,174 (GRCm39)	Q189R	probably damaging	Het
Kctd10	A	G	5: 114,505,389 (GRCm39)	F202L	probably damaging	Het
Kif17	T	A	4: 137,989,978 (GRCm39)	D55E	probably damaging	Het
Klf1	C	T	8: 85,629,775 (GRCm39)	A200V	possibly damaging	Het
Kng2	G	T	16: 22,816,076 (GRCm39)		probably benign	Het
Lats1	T	C	10: 7,577,611 (GRCm39)	V245A	possibly damaging	Het
Mbd3l2	A	T	9: 18,356,254 (GRCm39)	D193V	probably damaging	Het
Ms4a18	A	T	19: 10,974,695 (GRCm39)	V332D	possibly damaging	Het
Mss51	T	C	14: 20,537,591 (GRCm39)	I47V	probably benign	Het
Myoz2	G	A	3: 122,827,861 (GRCm39)	T19M	probably benign	Het
Nampt	T	A	12: 32,880,309 (GRCm39)	N67K	probably benign	Het
Ncor2	A	T	5: 125,107,776 (GRCm39)	I1607K	probably damaging	Het
Nudt4	T	C	10: 95,399,600 (GRCm39)	Q7R	probably damaging	Het
Or5b119	A	G	19: 13,457,173 (GRCm39)	Y130H	probably damaging	Het
Or5b121	T	A	19: 13,507,802 (GRCm39)	I255N	probably damaging	Het
Or8b12i	T	A	9: 20,082,463 (GRCm39)	I135F	probably damaging	Het
Pgm2	A	T	5: 64,273,709 (GRCm39)	M565L	probably benign	Het
Phactr1	T	G	13: 43,288,651 (GRCm39)	F639V	possibly damaging	Het
Plod3	C	A	5: 137,017,571 (GRCm39)	R165S	probably damaging	Het
Polr2b	T	A	5: 77,468,193 (GRCm39)	N164K	probably benign	Het
Rcbtb2	G	A	14: 73,399,491 (GRCm39)	G52S	probably damaging	Het
Rfc1	A	G	5: 65,468,382 (GRCm39)		probably null	Het
Rheb	A	G	5: 25,012,601 (GRCm39)		probably null	Het
Rin2	C	T	2: 145,702,366 (GRCm39)	T354I	probably benign	Het
Ripor2	G	A	13: 24,905,817 (GRCm39)		probably null	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Het
Scg3	A	T	9: 75,584,092 (GRCm39)	D136E	probably damaging	Het
Slc10a4	C	T	5: 73,164,923 (GRCm39)	L172F	probably damaging	Het
Slc35c2	A	G	2: 165,123,299 (GRCm39)	Y113H	probably damaging	Het
Slc47a1	T	A	11: 61,235,318 (GRCm39)	D505V	probably benign	Het
Snap29	C	A	16: 17,246,113 (GRCm39)	D244E	possibly damaging	Het
Taar1	T	C	10: 23,797,168 (GRCm39)	F289L	probably benign	Het
Thbs2	T	A	17: 14,893,568 (GRCm39)	N871Y	probably damaging	Het
Tmem108	T	A	9: 103,377,162 (GRCm39)	T96S	possibly damaging	Het
Tnk2	G	T	16: 32,489,620 (GRCm39)		probably null	Het
Trak1	T	A	9: 121,302,028 (GRCm39)	M928K	possibly damaging	Het
Tuba3b	A	G	6: 145,564,559 (GRCm39)	I110V	probably benign	Het
Tyk2	A	G	9: 21,022,281 (GRCm39)		probably benign	Het
Ugt1a9	T	A	1: 87,998,759 (GRCm39)	C70S	probably benign	Het
Vmn2r10	A	T	5: 109,151,410 (GRCm39)	I68K	possibly damaging	Het
Wfs1	T	C	5: 37,124,845 (GRCm39)	E682G	probably damaging	Het
Zfp213	T	C	17: 23,778,481 (GRCm39)		probably null	Het
Zfp809	T	C	9: 22,146,434 (GRCm39)	V41A	probably benign	Het
Zfp831	A	G	2: 174,547,539 (GRCm39)	K1574R	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
R3176:Klhl32	UTSW	4	24,682,063 (GRCm39)	missense	probably benign	0.39
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

PCR Primer
(F):5'- GTCCATGAAACAAGTTTGGGG -3'
(R):5'- ACAAGATGCGGTTGATTCTAGG -3'

Sequencing Primer
(F):5'- TGCTCCCTGTAGAAGACTAGCTAG -3'
(R):5'- AAGTGGATAAGTCGCAGC -3'

Posted On

2014-10-01