Mutagenetix > Incidental Mutation

Incidental Mutation 'R4961:Klhl30'

381739

Institutional Source

Beutler Lab

Gene Symbol

Klhl30

Ensembl Gene

ENSMUSG00000026308

Gene Name

kelch-like 30

Synonyms

4631423F02Rik

MMRRC Submission

042558-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4961 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

91278795-91290126 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 91285106 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 321 (S321T)

Ref Sequence

ENSEMBL: ENSMUSP00000027533 (fasta)

Gene Model

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

AlphaFold

Q8C3F7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027533
AA Change: S321T

PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000027533
Gene: ENSMUSG00000026308
AA Change: S321T

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

0.2987

Coding Region Coverage

1x: 98.9%
3x: 98.1%
10x: 95.3%
20x: 88.3%

Validation Efficiency

95% (62/65)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110082I17Rik	T	C	5: 139,349,855 (GRCm39)	K65E	probably damaging	Het
Acp5	C	A	9: 22,041,233 (GRCm39)	A65S	probably benign	Het
Adad2	G	A	8: 120,342,397 (GRCm39)	R345H	probably damaging	Het
Adamts7	G	T	9: 90,067,793 (GRCm39)	G428W	probably damaging	Het
Amy1	A	G	3: 113,355,498 (GRCm39)	S326P	probably damaging	Het
Ankrd44	C	T	1: 54,703,071 (GRCm39)	D482N	probably damaging	Het
Anks6	C	T	4: 47,030,795 (GRCm39)	G601S	probably damaging	Het
Ano8	G	C	8: 71,935,640 (GRCm39)	P326R	probably damaging	Het
Arhgef26	A	G	3: 62,367,046 (GRCm39)	E793G	probably damaging	Het
Cd9	A	T	6: 125,440,703 (GRCm39)	V96E	probably damaging	Het
Cdh9	A	G	15: 16,850,914 (GRCm39)	N561S	probably benign	Het
Col16a1	G	A	4: 129,948,272 (GRCm39)		probably null	Het
Cpne7	G	A	8: 123,860,498 (GRCm39)	G484R	probably damaging	Het
Dcun1d4	A	T	5: 73,701,463 (GRCm39)	K194*	probably null	Het
Dock3	A	G	9: 106,818,515 (GRCm39)	V1193A	probably damaging	Het
Dst	A	G	1: 34,007,904 (GRCm39)	R113G	possibly damaging	Het
Epha5	A	T	5: 84,381,502 (GRCm39)	S450T	probably damaging	Het
Gm5581	A	T	6: 131,144,190 (GRCm39)		noncoding transcript	Het
Grhl3	A	G	4: 135,279,918 (GRCm39)	Y379H	probably damaging	Het
Herpud1	T	C	8: 95,117,454 (GRCm39)	S13P	probably benign	Het
Jam2	C	T	16: 84,606,435 (GRCm39)	Q150*	probably null	Het
Jph2	C	G	2: 163,217,668 (GRCm39)	R336P	probably damaging	Het
Kansl3	T	A	1: 36,387,764 (GRCm39)		probably null	Het
Kctd1	G	A	18: 15,195,580 (GRCm39)	P348S	probably damaging	Het
Klhl5	T	C	5: 65,310,033 (GRCm39)		probably benign	Het
Letm2	T	C	8: 26,084,108 (GRCm39)	H41R	possibly damaging	Het
Ltn1	A	T	16: 87,194,679 (GRCm39)	C1407S	probably benign	Het
Map1b	T	C	13: 99,572,161 (GRCm39)	T187A	probably damaging	Het
Marveld2	T	C	13: 100,748,431 (GRCm39)	N216S	probably benign	Het
Matn1	A	G	4: 130,680,234 (GRCm39)	Y437C	probably damaging	Het
Oas1h	T	C	5: 121,009,159 (GRCm39)	Y290H	probably damaging	Het
Ofcc1	A	G	13: 40,417,035 (GRCm39)		probably null	Het
Or2m12	C	A	16: 19,104,726 (GRCm39)	G256W	probably damaging	Het
Or4k51	A	T	2: 111,584,750 (GRCm39)	D52V	probably damaging	Het
Or8g34	A	G	9: 39,373,183 (GRCm39)	Y152C	probably damaging	Het
Otof	C	A	5: 30,540,837 (GRCm39)		probably benign	Het
Pcdh15	G	T	10: 74,215,249 (GRCm39)		probably null	Het
Pgk2	G	A	17: 40,518,412 (GRCm39)	P339S	probably damaging	Het
Piezo2	T	C	18: 63,186,032 (GRCm39)		probably null	Het
Prex2	A	G	1: 11,168,705 (GRCm39)	T234A	possibly damaging	Het
Rasgrf1	C	T	9: 89,826,922 (GRCm39)	T177M	probably benign	Het
Rgs1	A	T	1: 144,124,309 (GRCm39)		probably null	Het
Snx25	T	C	8: 46,521,229 (GRCm39)	N239S	probably damaging	Het
Spata31d1a	T	A	13: 59,849,716 (GRCm39)	H804L	possibly damaging	Het
Spon2	A	T	5: 33,371,896 (GRCm39)	Y303*	probably null	Het
Spopfm2	A	T	3: 94,082,841 (GRCm39)	C323*	probably null	Het
Thrb	G	A	14: 18,011,076 (GRCm38)	D151N	probably benign	Het
Tns1	A	G	1: 73,975,074 (GRCm39)	V1170A	probably benign	Het
Trbv19	A	T	6: 41,155,706 (GRCm39)	I26F	probably damaging	Het
Tstd2	T	C	4: 46,120,467 (GRCm39)	N311S	probably damaging	Het
Ttn	T	A	2: 76,715,746 (GRCm39)		probably benign	Het
Ugt1a1	CAGAGAGAGAGAGA	CAGAGAGAGAGA	1: 88,139,706 (GRCm39)		probably benign	Het
Vmn1r185	G	A	7: 26,310,716 (GRCm39)	A263V	probably benign	Het
Zfp316	T	C	5: 143,239,169 (GRCm39)	H950R	probably damaging	Het
Zfp51	A	G	17: 21,676,615 (GRCm39)	K29E	probably benign	Het
Zfp644	T	C	5: 106,766,081 (GRCm39)		probably benign	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
R4031:Klhl30	UTSW	1	91,288,879 (GRCm39)	missense	probably benign	0.01
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
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'- TACACTTGTCTAGGCTGGGC -3'
(R):5'- TCACTTTCAGAGGTGTAGAAAGG -3'

Sequencing Primer
(F):5'- GGATACTCCAGGCTGACTCTAC -3'
(R):5'- TTTCAGAGGTGTAGAAAGGGCTGG -3'

Posted On

2016-04-27