Mutagenetix > Incidental Mutation

Incidental Mutation 'R1681:Klhl33'

188544

Institutional Source

Beutler Lab

Gene Symbol

Klhl33

Ensembl Gene

ENSMUSG00000090799

Gene Name

kelch-like 33

Synonyms

EG546611

MMRRC Submission

039717-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.121) question?

Stock #

R1681 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

51126038-51134940 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 51130534 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 320 (D320V)

Ref Sequence

ENSEMBL: ENSMUSP00000154785 (fasta)

Gene Model

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

AlphaFold

A0A2I3BRZ3

Predicted Effect

probably benign
Transcript: ENSMUST00000164415
AA Change: D60V

PolyPhen 2 Score 0.120 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000129810
Gene: ENSMUSG00000090799
AA Change: D60V

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 benign
Transcript: ENSMUST00000227271
AA Change: D320V

PolyPhen 2 Score 0.282 (Sensitivity: 0.91; Specificity: 0.88)

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.6%
20x: 93.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	T	A	11: 84,117,011 (GRCm39)	I247N	probably damaging	Het
Ankle1	G	T	8: 71,860,262 (GRCm39)	S260I	probably benign	Het
Aoc2	T	C	11: 101,216,018 (GRCm39)	S34P	probably benign	Het
Ap1m1	A	C	8: 73,009,966 (GRCm39)	I397L	possibly damaging	Het
Apba1	C	A	19: 23,913,925 (GRCm39)	D649E	probably damaging	Het
Aptx	C	T	4: 40,697,274 (GRCm39)	V25M	probably benign	Het
Arhgef18	G	A	8: 3,489,645 (GRCm39)	G326R	probably damaging	Het
Atm	A	C	9: 53,433,455 (GRCm39)	I265S	possibly damaging	Het
B3galt4	A	T	17: 34,170,187 (GRCm39)	V17E	probably benign	Het
Bcl7a	T	A	5: 123,494,086 (GRCm39)	M86K	possibly damaging	Het
Calhm6	A	G	10: 34,003,896 (GRCm39)	F4L	probably benign	Het
Cela3a	T	A	4: 137,129,995 (GRCm39)		probably null	Het
Cep85	T	A	4: 133,876,039 (GRCm39)	K456*	probably null	Het
Ces1f	C	A	8: 94,002,042 (GRCm39)	A29S	probably benign	Het
Chd9	A	T	8: 91,699,763 (GRCm39)	I598F	probably damaging	Het
Cntln	T	C	4: 84,865,872 (GRCm39)	L176S	probably damaging	Het
Cntn3	A	T	6: 102,147,629 (GRCm39)	N909K	probably damaging	Het
Cntnap5b	T	C	1: 100,003,832 (GRCm39)	S271P	probably damaging	Het
Col6a3	T	A	1: 90,701,224 (GRCm39)	H2564L	unknown	Het
Cyp2b19	C	A	7: 26,462,765 (GRCm39)		probably null	Het
Dapk1	G	T	13: 60,866,278 (GRCm39)		probably null	Het
Dnah7b	T	A	1: 46,363,872 (GRCm39)	Y3497*	probably null	Het
Duoxa2	T	C	2: 122,129,643 (GRCm39)		probably null	Het
Eny2	T	C	15: 44,295,874 (GRCm39)	W42R	probably damaging	Het
Epha3	A	G	16: 63,416,091 (GRCm39)	V635A	probably damaging	Het
Fam167b	G	C	4: 129,472,069 (GRCm39)	Q34E	probably benign	Het
Fancm	T	C	12: 65,152,430 (GRCm39)	M962T	probably benign	Het
Gimap8	T	A	6: 48,633,345 (GRCm39)	I388N	probably benign	Het
Gpaa1	A	G	15: 76,215,653 (GRCm39)	T22A	probably benign	Het
Hoxc11	T	C	15: 102,863,591 (GRCm39)	S211P	possibly damaging	Het
Hsd17b12	T	C	2: 93,863,906 (GRCm39)	N312S	unknown	Het
Idh2	T	G	7: 79,748,906 (GRCm39)	E125A	probably damaging	Het
Igdcc4	A	G	9: 65,036,077 (GRCm39)	Y712C	probably damaging	Het
Kank1	T	C	19: 25,387,668 (GRCm39)	V447A	possibly damaging	Het
Kif1b	T	A	4: 149,279,958 (GRCm39)		probably null	Het
Klc4	A	T	17: 46,947,696 (GRCm39)	D335E	probably damaging	Het
Krt73	A	T	15: 101,710,482 (GRCm39)	M84K	possibly damaging	Het
Kti12	T	A	4: 108,706,055 (GRCm39)	I323N	probably damaging	Het
Kynu	T	C	2: 43,569,837 (GRCm39)	L373P	probably damaging	Het
Lats1	T	C	10: 7,581,678 (GRCm39)	M821T	probably damaging	Het
Lnx1	A	T	5: 74,846,071 (GRCm39)	H126Q	probably benign	Het
Lonrf2	G	A	1: 38,852,357 (GRCm39)	P165S	probably benign	Het
Lrrc4b	T	A	7: 44,110,601 (GRCm39)	Y158N	probably damaging	Het
Lrrc74b	C	A	16: 17,377,617 (GRCm39)	R87L	probably damaging	Het
Meig1	T	C	2: 3,410,311 (GRCm39)	D63G	probably damaging	Het
Mrpl38	G	A	11: 116,029,255 (GRCm39)		probably benign	Het
Mtcl2	T	C	2: 156,872,450 (GRCm39)	T966A	possibly damaging	Het
Naip2	C	T	13: 100,298,368 (GRCm39)	G556D	probably benign	Het
Naip2	T	C	13: 100,298,362 (GRCm39)	E558G	probably benign	Het
Nlrp1a	T	A	11: 71,033,184 (GRCm39)	E3D	unknown	Het
Nphs2	T	A	1: 156,148,468 (GRCm39)	D110E	probably damaging	Het
Nxn	T	A	11: 76,163,290 (GRCm39)	K244N	probably benign	Het
Oas3	A	T	5: 120,907,973 (GRCm39)	F322L	probably benign	Het
Obscn	T	A	11: 58,994,151 (GRCm39)	Y1577F	probably damaging	Het
Or10ag57	G	A	2: 87,218,964 (GRCm39)	R305K	possibly damaging	Het
Or8b47	T	A	9: 38,435,413 (GRCm39)	N128K	probably benign	Het
Or8b50	G	A	9: 38,518,244 (GRCm39)	G161D	probably damaging	Het
Or8b52	A	G	9: 38,576,616 (GRCm39)	Y175H	probably benign	Het
Or8d2	T	C	9: 38,759,809 (GRCm39)	M133T	probably damaging	Het
Panx1	T	C	9: 14,919,079 (GRCm39)	D260G	probably benign	Het
Pcdhb15	T	C	18: 37,606,866 (GRCm39)	Y33H	probably damaging	Het
Pik3ap1	C	A	19: 41,296,968 (GRCm39)	V461F	probably damaging	Het
Plpp3	G	A	4: 105,066,002 (GRCm39)		probably null	Het
Prtn3	A	T	10: 79,716,375 (GRCm39)	T61S	probably benign	Het
Psen1	T	A	12: 83,771,394 (GRCm39)	Y225N	probably damaging	Het
Rab44	T	A	17: 29,359,098 (GRCm39)	S429T	possibly damaging	Het
Ralgapa1	T	C	12: 55,809,388 (GRCm39)	I462M	probably benign	Het
Rbfox3	T	C	11: 118,396,495 (GRCm39)	N105S	probably damaging	Het
Rbm7	A	C	9: 48,401,021 (GRCm39)	Y236D	possibly damaging	Het
Samhd1	T	C	2: 156,943,652 (GRCm39)	T621A	probably benign	Het
Samt3	C	A	X: 85,090,256 (GRCm39)	D49E	probably benign	Het
Sass6	T	C	3: 116,397,122 (GRCm39)	V26A	possibly damaging	Het
Scn11a	C	T	9: 119,633,478 (GRCm39)	M418I	possibly damaging	Het
Scrib	T	C	15: 75,936,416 (GRCm39)	E480G	probably damaging	Het
Sec24a	T	G	11: 51,586,016 (GRCm39)	T1071P	probably damaging	Het
Siglecg	A	C	7: 43,058,365 (GRCm39)	E84A	probably benign	Het
Slc6a17	C	T	3: 107,381,702 (GRCm39)	V419I	probably damaging	Het
Ssr2	T	C	3: 88,488,349 (GRCm39)	M75T	possibly damaging	Het
Tbc1d22b	A	G	17: 29,794,151 (GRCm39)	T275A	possibly damaging	Het
Tbx15	T	A	3: 99,259,140 (GRCm39)		probably null	Het
Tll1	A	C	8: 64,538,585 (GRCm39)	L353R	possibly damaging	Het
Tlr4	C	T	4: 66,759,342 (GRCm39)	P712S	probably damaging	Het
Tmem145	T	A	7: 25,014,159 (GRCm39)	F424L	possibly damaging	Het
Tnrc18	T	C	5: 142,759,572 (GRCm39)	K755E	unknown	Het
Trmt44	A	G	5: 35,727,321 (GRCm39)	I298T	probably benign	Het
Vmn1r69	A	G	7: 10,314,179 (GRCm39)	V184A	probably benign	Het
Zfp84	T	C	7: 29,476,825 (GRCm39)	C506R	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
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
R6434:Klhl33	UTSW	14	51,130,564 (GRCm39)	missense	probably damaging	1.00
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'- AGCCTCAAACTCTTCTTGCACATGG -3'
(R):5'- TATGGCCTTGCTGGACCCAAAC -3'

Sequencing Primer
(F):5'- GCACATGGAGTTCATCACTG -3'
(R):5'- CCAAACCGCGAATTAGGATTG -3'

Posted On

2014-05-09