Mutagenetix > Incidental Mutation

Incidental Mutation 'R4031:Klhl30'

313468

Institutional Source

Beutler Lab

Gene Symbol

Klhl30

Ensembl Gene

ENSMUSG00000026308

Gene Name

kelch-like 30

Synonyms

4631423F02Rik

MMRRC Submission

040960-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4031 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

91278795-91290126 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 91288879 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 546 (R546H)

Ref Sequence

ENSEMBL: ENSMUSP00000027533 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027533]

AlphaFold

Q8C3F7

Predicted Effect

probably benign
Transcript: ENSMUST00000027533
AA Change: R546H

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000027533
Gene: ENSMUSG00000026308
AA Change: R546H

Domain	Start	End	E-Value	Type
BTB	33	130	1.41e-24	SMART
BACK	135	237	5.11e-26	SMART
Kelch	328	378	2.2e-5	SMART
Kelch	379	423	7.4e-2	SMART
Kelch	473	514	1e1	SMART
Kelch	515	564	2.7e0	SMART

Meta Mutation Damage Score

0.0884

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 93.7%

Validation Efficiency

95% (52/55)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	G	T	8: 87,244,077 (GRCm39)	F1025L	probably damaging	Het
Acss2	C	T	2: 155,399,130 (GRCm39)	T477I	probably damaging	Het
Aplp2	G	A	9: 31,069,026 (GRCm39)	P601L	probably benign	Het
Arl2bp	T	C	8: 95,394,281 (GRCm39)	I32T	probably damaging	Het
Avpi1	C	A	19: 42,113,180 (GRCm39)		probably benign	Het
C030005K15Rik	T	C	10: 97,561,404 (GRCm39)	Y109C	unknown	Het
Ccdc150	T	A	1: 54,317,970 (GRCm39)	M303K	probably benign	Het
Chrna5	T	C	9: 54,905,370 (GRCm39)	W61R	probably damaging	Het
Copa	T	C	1: 171,935,942 (GRCm39)	V428A	probably damaging	Het
Crybb3	A	G	5: 113,227,735 (GRCm39)	Y29H	probably damaging	Het
Dcun1d4	A	G	5: 73,691,980 (GRCm39)	D89G	probably damaging	Het
Disp2	T	C	2: 118,622,361 (GRCm39)	I1031T	probably benign	Het
Elf1	A	C	14: 79,806,723 (GRCm39)	K161Q	probably damaging	Het
Fndc1	A	T	17: 7,988,584 (GRCm39)	Y1159*	probably null	Het
Hspa12a	T	C	19: 58,789,289 (GRCm39)	N449S	probably benign	Het
Hyal4	A	G	6: 24,756,223 (GRCm39)	E147G	probably damaging	Het
Hydin	T	C	8: 111,336,679 (GRCm39)	I5152T	probably benign	Het
Ighv9-1	C	T	12: 114,057,844 (GRCm39)	A19T	probably benign	Het
Kcnt1	T	G	2: 25,806,060 (GRCm39)	S1216R	possibly damaging	Het
Kdm5d	T	A	Y: 916,910 (GRCm39)	V435E	probably damaging	Het
Lrp1b	C	T	2: 40,592,860 (GRCm39)	G3753D	probably benign	Het
Ltbp3	G	A	19: 5,804,050 (GRCm39)	R854Q	probably benign	Het
Macf1	A	G	4: 123,275,105 (GRCm39)	L6303P	probably damaging	Het
Mblac2	T	C	13: 81,898,208 (GRCm39)	S195P	possibly damaging	Het
Mindy3	A	C	2: 12,405,894 (GRCm39)		probably null	Het
Neurod1	C	T	2: 79,284,370 (GRCm39)	D338N	probably benign	Het
Polr1e	A	T	4: 45,018,685 (GRCm39)	E5V	probably benign	Het
Polr2b	G	A	5: 77,496,252 (GRCm39)	R1141H	possibly damaging	Het
Ppp2r2a	T	C	14: 67,266,425 (GRCm39)	S79G	probably damaging	Het
Psmd2	G	A	16: 20,481,955 (GRCm39)	G896D	probably damaging	Het
Rap1gds1	T	C	3: 138,756,353 (GRCm39)		probably benign	Het
Rsph10b	A	G	5: 143,922,486 (GRCm39)		probably null	Het
Slc26a10	A	G	10: 127,013,871 (GRCm39)	V297A	possibly damaging	Het
Slc26a5	T	C	5: 22,052,189 (GRCm39)	K47E	probably damaging	Het
Slurp1	T	C	15: 74,599,336 (GRCm39)	E58G	probably damaging	Het
Spo11	T	A	2: 172,828,625 (GRCm39)		probably benign	Het
Tm9sf4	T	C	2: 153,040,264 (GRCm39)		probably benign	Het
Trak1	T	C	9: 121,280,736 (GRCm39)	I272T	probably damaging	Het
Tshz1	T	C	18: 84,032,954 (GRCm39)	K485E	possibly damaging	Het
Ttn	T	A	2: 76,585,168 (GRCm39)	I22042F	probably damaging	Het
Unc79	T	A	12: 103,039,018 (GRCm39)	S671T	possibly damaging	Het
Usp43	G	T	11: 67,804,659 (GRCm39)	A186D	probably damaging	Het
Vmn2r107	G	A	17: 20,595,483 (GRCm39)	V679I	probably benign	Het
Vsig10l	C	T	7: 43,114,798 (GRCm39)	A333V	probably damaging	Het
Vwa3a	G	A	7: 120,367,455 (GRCm39)		probably null	Het
Wdr49	C	A	3: 75,230,972 (GRCm39)	L563F	probably benign	Het
Wnk1	T	C	6: 119,928,029 (GRCm39)	T1141A	probably damaging	Het
Zfp236	T	A	18: 82,642,590 (GRCm39)	E1052V	probably damaging	Het
Zfp317	A	T	9: 19,558,008 (GRCm39)	H163L	possibly damaging	Het
Zfp975	G	A	7: 42,312,377 (GRCm39)	Q79*	probably null	Het

Other mutations in Klhl30

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00229:Klhl30	APN	1	91,281,879 (GRCm39)	missense	possibly damaging	0.79
IGL01485:Klhl30	APN	1	91,281,761 (GRCm39)	missense	probably damaging	0.98
IGL02698:Klhl30	APN	1	91,281,429 (GRCm39)	missense	probably damaging	1.00
IGL02751:Klhl30	APN	1	91,281,821 (GRCm39)	missense	probably damaging	1.00
BB006:Klhl30	UTSW	1	91,283,238 (GRCm39)	missense	possibly damaging	0.67
BB016:Klhl30	UTSW	1	91,283,238 (GRCm39)	missense	possibly damaging	0.67
R0458:Klhl30	UTSW	1	91,288,718 (GRCm39)	splice site	probably benign
R0578:Klhl30	UTSW	1	91,282,074 (GRCm39)	missense	probably benign	0.00
R0621:Klhl30	UTSW	1	91,285,585 (GRCm39)	missense	probably damaging	1.00
R0645:Klhl30	UTSW	1	91,283,228 (GRCm39)	missense	probably damaging	0.98
R1240:Klhl30	UTSW	1	91,288,737 (GRCm39)	missense	probably benign	0.00
R1374:Klhl30	UTSW	1	91,288,798 (GRCm39)	missense	probably damaging	1.00
R2029:Klhl30	UTSW	1	91,285,636 (GRCm39)	splice site	probably null
R2126:Klhl30	UTSW	1	91,286,499 (GRCm39)	splice site	probably null
R2152:Klhl30	UTSW	1	91,285,546 (GRCm39)	missense	probably benign	0.32
R3913:Klhl30	UTSW	1	91,287,166 (GRCm39)	missense	possibly damaging	0.92
R4116:Klhl30	UTSW	1	91,281,830 (GRCm39)	missense	probably benign	0.20
R4427:Klhl30	UTSW	1	91,281,426 (GRCm39)	missense	probably damaging	1.00
R4561:Klhl30	UTSW	1	91,288,753 (GRCm39)	missense	probably damaging	1.00
R4896:Klhl30	UTSW	1	91,287,046 (GRCm39)	splice site	probably null
R4961:Klhl30	UTSW	1	91,285,106 (GRCm39)	missense	possibly damaging	0.82
R5004:Klhl30	UTSW	1	91,287,046 (GRCm39)	splice site	probably null
R5062:Klhl30	UTSW	1	91,283,300 (GRCm39)	missense	probably benign	0.00
R6298:Klhl30	UTSW	1	91,285,086 (GRCm39)	missense	probably benign	0.24
R6299:Klhl30	UTSW	1	91,285,636 (GRCm39)	splice site	probably null
R6393:Klhl30	UTSW	1	91,288,912 (GRCm39)	missense	probably damaging	1.00
R6962:Klhl30	UTSW	1	91,285,137 (GRCm39)	missense	probably damaging	0.99
R7461:Klhl30	UTSW	1	91,285,130 (GRCm39)	missense	possibly damaging	0.90
R7849:Klhl30	UTSW	1	91,287,059 (GRCm39)	missense	probably benign	0.00
R7929:Klhl30	UTSW	1	91,283,238 (GRCm39)	missense	possibly damaging	0.67
R8378:Klhl30	UTSW	1	91,285,494 (GRCm39)	nonsense	probably null
R8944:Klhl30	UTSW	1	91,287,174 (GRCm39)	missense	probably damaging	1.00
R9790:Klhl30	UTSW	1	91,282,089 (GRCm39)	missense	probably benign	0.23
R9791:Klhl30	UTSW	1	91,282,089 (GRCm39)	missense	probably benign	0.23
Z1176:Klhl30	UTSW	1	91,287,187 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- AGGACATCCTTGTTTCCACC -3'
(R):5'- TCATCTGATACTGAGCCCAGC -3'

Sequencing Primer
(F):5'- CCTTCCATTGTCATCCACAGGTG -3'
(R):5'- TGATACTGAGCCCAGCCCATG -3'

Posted On

2015-04-30