Mutagenetix > Incidental Mutation

Incidental Mutation 'R5995:Klhl33'

481084

Institutional Source

Beutler Lab

Gene Symbol

Klhl33

Ensembl Gene

ENSMUSG00000090799

Gene Name

kelch-like 33

Synonyms

EG546611

MMRRC Submission

044174-MU

Accession Numbers

Essential gene?

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

Stock #

R5995 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

51126038-51134940 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 51130108 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Alanine at position 462 (E462A)

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: E202A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000129810
Gene: ENSMUSG00000090799
AA Change: E202A

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

possibly damaging
Transcript: ENSMUST00000227271
AA Change: E462A

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)

Meta Mutation Damage Score

0.0803

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.4%
20x: 91.7%

Validation Efficiency

100% (56/56)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb8	C	T	5: 24,605,137 (GRCm39)	R108C	possibly damaging	Het
Adgrb2	C	A	4: 129,910,896 (GRCm39)	A1104E	probably damaging	Het
Adgrv1	A	G	13: 81,614,378 (GRCm39)	V4005A	probably benign	Het
Bend6	T	C	1: 33,917,520 (GRCm39)		probably null	Het
Brwd1	A	T	16: 95,865,987 (GRCm39)	V265E	probably damaging	Het
Ccdc96	A	G	5: 36,643,718 (GRCm39)	I575V	probably damaging	Het
Cd109	A	T	9: 78,607,561 (GRCm39)	I1094L	probably benign	Het
Cd44	A	G	2: 102,692,015 (GRCm39)	V91A	probably damaging	Het
Cdv3	C	G	9: 103,241,202 (GRCm39)	G122R	probably damaging	Het
Ces2c	T	A	8: 105,577,533 (GRCm39)	V272D	possibly damaging	Het
Colgalt1	T	A	8: 72,075,754 (GRCm39)	M467K	probably damaging	Het
Crtam	G	A	9: 40,905,836 (GRCm39)	T31M	possibly damaging	Het
Cyp7a1	C	T	4: 6,272,371 (GRCm39)	V281M	possibly damaging	Het
Dnah7a	A	T	1: 53,659,829 (GRCm39)	N726K	probably benign	Het
Dok6	T	C	18: 89,439,142 (GRCm39)	E232G	possibly damaging	Het
Gm12185	T	C	11: 48,806,540 (GRCm39)	E217G	probably benign	Het
Gm7247	C	T	14: 51,601,805 (GRCm39)	S26F	probably benign	Het
Gria1	A	T	11: 57,180,111 (GRCm39)	Y618F	probably damaging	Het
H2-T22	A	G	17: 36,352,377 (GRCm39)	Y183H	probably benign	Het
Hace1	A	T	10: 45,546,487 (GRCm39)	I374L	probably benign	Het
Hif3a	T	A	7: 16,787,694 (GRCm39)	T132S	probably benign	Het
Hoxa3	T	A	6: 52,147,263 (GRCm39)		probably benign	Het
Il27	A	C	7: 126,188,535 (GRCm39)		probably benign	Het
Klhdc1	T	C	12: 69,297,548 (GRCm39)	Y40H	probably damaging	Het
Myh10	T	C	11: 68,705,809 (GRCm39)	I1979T	probably benign	Het
Nfkbil1	G	T	17: 35,439,774 (GRCm39)	F246L	probably benign	Het
Nlrp1b	A	T	11: 71,072,572 (GRCm39)	F424I	probably damaging	Het
Nod1	A	G	6: 54,921,539 (GRCm39)	Y260H	probably damaging	Het
Ofcc1	A	G	13: 40,433,898 (GRCm39)	L69P	probably damaging	Het
Onecut2	G	T	18: 64,474,619 (GRCm39)	R390L	probably damaging	Het
Oprm1	A	C	10: 6,782,520 (GRCm39)	M388L	probably benign	Het
Or10q3	A	T	19: 11,848,226 (GRCm39)	I118N	possibly damaging	Het
Or1e26	T	C	11: 73,480,076 (GRCm39)	I163V	probably benign	Het
Or1o3	C	A	17: 37,574,539 (GRCm39)	Q5H	probably benign	Het
Or5aq1	T	C	2: 86,966,200 (GRCm39)	N155S	probably damaging	Het
Or5b96	A	C	19: 12,867,961 (GRCm39)		probably null	Het
Or8g53	A	G	9: 39,683,988 (GRCm39)	V36A	probably benign	Het
Pcdhgc5	T	A	18: 37,954,113 (GRCm39)	Y462*	probably null	Het
Pex1	T	A	5: 3,657,704 (GRCm39)	M425K	possibly damaging	Het
Plec	A	T	15: 76,070,105 (GRCm39)	Y1001N	probably damaging	Het
Poglut3	T	C	9: 53,307,195 (GRCm39)	Y380H	probably damaging	Het
Pou2f2	T	G	7: 24,796,869 (GRCm39)	K236Q	probably damaging	Het
Rbm20	G	A	19: 53,839,698 (GRCm39)	E896K	possibly damaging	Het
Sh3tc2	T	A	18: 62,123,081 (GRCm39)	L614Q	probably damaging	Het
Skint5	T	A	4: 113,751,029 (GRCm39)	I339F	unknown	Het
Slc2a7	T	C	4: 150,252,797 (GRCm39)	I479T	probably damaging	Het
Snrk	A	G	9: 121,986,288 (GRCm39)	N219S	probably damaging	Het
Supt20	T	C	3: 54,616,474 (GRCm39)	S245P	probably damaging	Het
Ttn	A	G	2: 76,591,636 (GRCm39)	I21011T	probably damaging	Het
Vmn2r11	T	A	5: 109,194,921 (GRCm39)	I802F	probably damaging	Het
Vmn2r92	T	C	17: 18,389,213 (GRCm39)		probably null	Het
Ythdc2	T	A	18: 45,019,320 (GRCm39)	M1363K	probably damaging	Het
Zan	T	C	5: 137,377,071 (GRCm39)		probably benign	Het
Zfp521	C	A	18: 13,850,681 (GRCm39)	C1261F	probably damaging	Het
Zfp980	A	T	4: 145,428,479 (GRCm39)	K403*	probably null	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
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'- ACTTCCTGTTAGGCTCGCAG -3'
(R):5'- CAAGAAGAGTTTGAGGCTTTCTC -3'

Sequencing Primer
(F):5'- TTAGGCTCGCAGCTCCGTG -3'
(R):5'- TTCTCAGCTGCACGGTG -3'

Posted On

2017-06-26