Mutagenetix > Incidental Mutation

Incidental Mutation 'R6434:Klhl33'

518724

Institutional Source

Beutler Lab

Gene Symbol

Klhl33

Ensembl Gene

ENSMUSG00000090799

Gene Name

kelch-like 33

Synonyms

EG546611

MMRRC Submission

044572-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.126) question?

Stock #

R6434 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

51126038-51134940 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 51130564 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 310 (A310V)

Ref Sequence

ENSEMBL: ENSMUSP00000154785 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000164415] [ENSMUST00000170855] [ENSMUST00000227271]

AlphaFold

A0A2I3BRZ3

Predicted Effect

probably damaging
Transcript: ENSMUST00000164415
AA Change: A50V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000129810
Gene: ENSMUSG00000090799
AA Change: A50V

Domain	Start	End	E-Value	Type
Pfam:BTB	1	70	5.7e-6	PFAM
BACK	75	176	3.59e-21	SMART
Kelch	273	322	5.26e-3	SMART
Kelch	323	369	7.83e-11	SMART
Kelch	370	418	1.46e-1	SMART
Kelch	419	465	2.84e-8	SMART
Kelch	466	514	6.08e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000170855

SMART Domains

Protein: ENSMUSP00000131456
Gene: ENSMUSG00000090799

Domain	Start	End	E-Value	Type
SCOP:d1buoa_	83	129	2e-3	SMART
Blast:BTB	109	170	2e-18	BLAST
SCOP:d1jkjb2	142	198	2e-3	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226765

Predicted Effect

probably damaging
Transcript: ENSMUST00000227271
AA Change: A310V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.8%

Validation Efficiency

98% (57/58)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alcam	A	C	16: 52,109,190 (GRCm39)		probably null	Het
Ankle2	A	G	5: 110,401,759 (GRCm39)	Y807C	probably damaging	Het
Arhgef26	A	C	3: 62,336,335 (GRCm39)	M625L	probably damaging	Het
Aspdh	G	A	7: 44,116,474 (GRCm39)	A86T	probably damaging	Het
Atl1	G	T	12: 70,006,199 (GRCm39)	E502*	probably null	Het
Atp6v1c1	T	C	15: 38,677,790 (GRCm39)	F105S	probably damaging	Het
Auh	C	A	13: 53,083,446 (GRCm39)	G17C	probably benign	Het
Ccdc81	T	C	7: 89,525,352 (GRCm39)	Y474C	probably damaging	Het
Ccdc82	T	C	9: 13,251,659 (GRCm39)		probably benign	Het
Ccdc96	T	G	5: 36,643,707 (GRCm39)	V571G	probably damaging	Het
Col6a5	C	A	9: 105,814,544 (GRCm39)	E489D	unknown	Het
Dchs2	T	A	3: 83,176,577 (GRCm39)	I845N	probably damaging	Het
Dnajc11	T	C	4: 152,063,751 (GRCm39)	V449A	probably damaging	Het
Ect2	A	T	3: 27,193,268 (GRCm39)	Y269*	probably null	Het
Egfr	T	C	11: 16,819,294 (GRCm39)	Y275H	probably benign	Het
Fan1	T	A	7: 64,004,129 (GRCm39)	D779V	probably damaging	Het
Fancm	T	C	12: 65,123,942 (GRCm39)	V200A	probably damaging	Het
Frem1	A	G	4: 82,884,253 (GRCm39)	I1214T	probably benign	Het
Gm3415	T	A	5: 146,494,752 (GRCm39)	F138L	probably benign	Het
Gtse1	C	A	15: 85,759,370 (GRCm39)	T626K	probably benign	Het
Herc1	T	A	9: 66,393,464 (GRCm39)	H4114Q	probably damaging	Het
Ifi44	T	A	3: 151,454,826 (GRCm39)	N133I	probably benign	Het
Ilf3	A	G	9: 21,314,447 (GRCm39)		probably benign	Het
Inpp4a	A	G	1: 37,437,919 (GRCm39)	T593A	probably damaging	Het
Iqgap2	A	T	13: 95,819,441 (GRCm39)	W634R	possibly damaging	Het
Kcnh4	T	A	11: 100,641,105 (GRCm39)	N448I	probably damaging	Het
Klra9	G	T	6: 130,155,995 (GRCm39)	Y253*	probably null	Het
Lrig2	T	C	3: 104,398,863 (GRCm39)	K222E	possibly damaging	Het
Manba	G	A	3: 135,217,734 (GRCm39)		probably null	Het
Mga	A	T	2: 119,754,419 (GRCm39)	Q976L	probably damaging	Het
Mtmr4	A	G	11: 87,504,309 (GRCm39)	D1086G	probably damaging	Het
Muc20	A	G	16: 32,615,176 (GRCm39)	V67A	probably benign	Het
Myh3	T	A	11: 66,973,193 (GRCm39)	L97Q	probably damaging	Het
Nars1	T	C	18: 64,640,872 (GRCm39)	T195A	probably benign	Het
Npat	A	T	9: 53,474,739 (GRCm39)	I844L	possibly damaging	Het
Nrxn3	T	C	12: 88,762,285 (GRCm39)	F111L	probably benign	Het
Obp2b	T	C	2: 25,628,599 (GRCm39)	Y118H	probably damaging	Het
Or5w1	T	A	2: 87,486,558 (GRCm39)	K236*	probably null	Het
Or7e170	A	T	9: 19,795,141 (GRCm39)	Y153*	probably null	Het
Patj	A	G	4: 98,379,866 (GRCm39)	D215G	probably damaging	Het
Pex1	T	A	5: 3,680,196 (GRCm39)	Y979*	probably null	Het
Septin3	G	A	15: 82,163,804 (GRCm39)	V54I	possibly damaging	Het
Shc3	A	G	13: 51,603,326 (GRCm39)	Y260H	probably damaging	Het
Simc1	A	G	13: 54,674,477 (GRCm39)	T942A	probably benign	Het
Slco1c1	T	C	6: 141,493,576 (GRCm39)	S371P	probably damaging	Het
Snrnp200	T	A	2: 127,080,574 (GRCm39)	I2029N	probably damaging	Het
Syne1	A	G	10: 5,268,422 (GRCm39)	V2089A	probably benign	Het
Syne2	T	C	12: 76,088,230 (GRCm39)	S5016P	probably damaging	Het
Tril	G	C	6: 53,795,493 (GRCm39)	D576E	probably damaging	Het
Tubb2b	C	T	13: 34,311,561 (GRCm39)	A411T	probably damaging	Het
Ubr4	T	C	4: 139,156,949 (GRCm39)	Y2325H	probably damaging	Het
Utp20	A	T	10: 88,608,395 (GRCm39)	C1547*	probably null	Het
Utrn	A	T	10: 12,401,171 (GRCm39)	W98R	probably damaging	Het
Vps35	C	T	8: 86,000,124 (GRCm39)	D501N	possibly damaging	Het
Wdr48	T	C	9: 119,745,879 (GRCm39)	S421P	possibly damaging	Het
Yju2b	A	G	8: 84,989,630 (GRCm39)	I63T	probably damaging	Het
Zfp719	C	A	7: 43,240,412 (GRCm39)	H667N	probably damaging	Het

Other mutations in Klhl33

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01561:Klhl33	APN	14	51,128,888 (GRCm39)	missense	probably benign	0.03
IGL01965:Klhl33	APN	14	51,129,187 (GRCm39)	missense	probably damaging	1.00
IGL02804:Klhl33	APN	14	51,130,411 (GRCm39)	missense	probably damaging	1.00
IGL02830:Klhl33	APN	14	51,129,214 (GRCm39)	missense	probably damaging	1.00
R0309:Klhl33	UTSW	14	51,128,868 (GRCm39)	missense	probably damaging	0.97
R0520:Klhl33	UTSW	14	51,129,140 (GRCm39)	missense	probably damaging	1.00
R0671:Klhl33	UTSW	14	51,129,851 (GRCm39)	missense	probably damaging	0.99
R0894:Klhl33	UTSW	14	51,129,583 (GRCm39)	missense	probably damaging	0.99
R0989:Klhl33	UTSW	14	51,129,279 (GRCm39)	missense	probably damaging	1.00
R1681:Klhl33	UTSW	14	51,130,534 (GRCm39)	missense	probably benign	0.28
R1795:Klhl33	UTSW	14	51,129,583 (GRCm39)	missense	probably damaging	0.99
R2088:Klhl33	UTSW	14	51,130,230 (GRCm39)	nonsense	probably null
R3114:Klhl33	UTSW	14	51,128,972 (GRCm39)	missense	possibly damaging	0.61
R5650:Klhl33	UTSW	14	51,129,285 (GRCm39)	missense	probably benign	0.08
R5851:Klhl33	UTSW	14	51,130,335 (GRCm39)	missense	probably damaging	1.00
R5995:Klhl33	UTSW	14	51,130,108 (GRCm39)	missense	possibly damaging	0.83
R6365:Klhl33	UTSW	14	51,129,294 (GRCm39)	missense	probably benign
R6803:Klhl33	UTSW	14	51,134,192 (GRCm39)	missense	probably damaging	0.99
R6881:Klhl33	UTSW	14	51,128,929 (GRCm39)	missense	probably benign	0.12
R6932:Klhl33	UTSW	14	51,129,373 (GRCm39)	missense	probably benign	0.03
R6953:Klhl33	UTSW	14	51,128,973 (GRCm39)	missense	possibly damaging	0.79
R6998:Klhl33	UTSW	14	51,130,478 (GRCm39)	missense	probably benign	0.00
R7545:Klhl33	UTSW	14	51,130,631 (GRCm39)	missense	probably damaging	1.00
R7985:Klhl33	UTSW	14	51,128,962 (GRCm39)	missense	probably benign	0.03
R8370:Klhl33	UTSW	14	51,129,689 (GRCm39)	missense	probably damaging	1.00
R8371:Klhl33	UTSW	14	51,129,689 (GRCm39)	missense	probably damaging	1.00
R8372:Klhl33	UTSW	14	51,129,689 (GRCm39)	missense	probably damaging	1.00
R8798:Klhl33	UTSW	14	51,130,565 (GRCm39)	missense	possibly damaging	0.95
R8923:Klhl33	UTSW	14	51,129,882 (GRCm39)	nonsense	probably null
R9027:Klhl33	UTSW	14	51,130,322 (GRCm39)	nonsense	probably null
R9326:Klhl33	UTSW	14	51,134,615 (GRCm39)	missense	possibly damaging	0.82
R9341:Klhl33	UTSW	14	51,133,903 (GRCm39)	critical splice donor site	probably null
R9343:Klhl33	UTSW	14	51,133,903 (GRCm39)	critical splice donor site	probably null
R9354:Klhl33	UTSW	14	51,130,385 (GRCm39)	missense	probably benign
R9416:Klhl33	UTSW	14	51,130,225 (GRCm39)	missense	probably damaging	0.97
R9525:Klhl33	UTSW	14	51,128,929 (GRCm39)	missense	probably null	0.05
R9590:Klhl33	UTSW	14	51,130,042 (GRCm39)	missense	probably benign
R9657:Klhl33	UTSW	14	51,134,117 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TCATCACTGTCCAGGAGCTC -3'
(R):5'- TACTGCAGTGCACCGAGTAG -3'

Sequencing Primer
(F):5'- AGCTCAGCCAGGCAGGTAAC -3'
(R):5'- AGTGCACCGAGTAGCCCTG -3'

Posted On

2018-05-24