Mutagenetix > Incidental Mutation

Incidental Mutation 'R4596:Klhl21'

344377

Institutional Source

Beutler Lab

Gene Symbol

Klhl21

Ensembl Gene

ENSMUSG00000073700

Gene Name

kelch-like 21

Synonyms

1810045K06Rik

MMRRC Submission

041812-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.110) question?

Stock #

R4596 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

152093348-152102134 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 152096997 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 421 (R421L)

Ref Sequence

ENSEMBL: ENSMUSP00000095380 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000097773]

AlphaFold

Q3U410

Predicted Effect

probably benign
Transcript: ENSMUST00000097773
AA Change: R421L

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000095380
Gene: ENSMUSG00000073700
AA Change: R421L

Domain	Start	End	E-Value	Type
BTB	35	133	2.4e-27	SMART
BACK	138	239	3.93e-27	SMART
Kelch	287	334	1.08e0	SMART
Kelch	336	382	1.3e-7	SMART
Kelch	383	422	5.88e-1	SMART
Kelch	464	512	2.97e-1	SMART
Kelch	513	560	6.57e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206007

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	T	C	9: 57,165,088 (GRCm39)	K429E	probably benign	Het
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
Adad1	T	C	3: 37,119,341 (GRCm39)	S141P	probably damaging	Het
Anapc4	T	C	5: 52,999,060 (GRCm39)	V124A	probably benign	Het
Anxa6	G	T	11: 54,885,409 (GRCm39)		probably null	Het
Aopep	T	C	13: 63,215,906 (GRCm39)	S393P	probably benign	Het
Arhgef40	T	C	14: 52,224,681 (GRCm39)		probably null	Het
Asz1	A	T	6: 18,103,592 (GRCm39)	I116K	possibly damaging	Het
Bcam	T	C	7: 19,498,082 (GRCm39)	N314D	probably damaging	Het
Cfi	T	C	3: 129,662,149 (GRCm39)	V376A	probably damaging	Het
Cipc	A	G	12: 87,008,728 (GRCm39)	T196A	probably benign	Het
Cnksr1	A	G	4: 133,961,189 (GRCm39)	V225A	possibly damaging	Het
Col4a4	G	A	1: 82,448,940 (GRCm39)	P1217S	unknown	Het
Dync2h1	C	T	9: 6,992,595 (GRCm39)	D3996N	probably benign	Het
Fasl	T	C	1: 161,615,838 (GRCm39)	N6S	probably benign	Het
Fhod3	A	T	18: 25,248,775 (GRCm39)	Q1318L	probably benign	Het
Gmps	G	T	3: 63,901,338 (GRCm39)	E386*	probably null	Het
Hspa13	C	T	16: 75,555,114 (GRCm39)	G324D	probably benign	Het
Ift80	A	G	3: 68,898,092 (GRCm39)	V81A	probably benign	Het
Itgb1bp1	C	A	12: 21,322,135 (GRCm39)	L101F	probably damaging	Het
Jak3	T	A	8: 72,137,275 (GRCm39)	S779T	probably damaging	Het
Mgat4c	T	C	10: 102,224,422 (GRCm39)	F212S	probably damaging	Het
Msl3l2	T	A	10: 55,991,741 (GRCm39)	F155L	probably benign	Het
Nfat5	A	G	8: 108,078,132 (GRCm39)	K406E	possibly damaging	Het
Nsd2	A	T	5: 34,040,262 (GRCm39)	H933L	probably damaging	Het
Or4c31	A	G	2: 88,292,538 (GRCm39)	T304A	probably benign	Het
Or51h5	A	G	7: 102,577,458 (GRCm39)	T208A	possibly damaging	Het
Or6f1	A	T	7: 85,970,631 (GRCm39)	H176Q	probably damaging	Het
Or9q2	G	A	19: 13,772,264 (GRCm39)	T237I	probably damaging	Het
Paxbp1	T	C	16: 90,827,435 (GRCm39)	I467V	probably benign	Het
Pcdha8	A	C	18: 37,126,611 (GRCm39)	Q364H	possibly damaging	Het
Prr14l	T	C	5: 32,986,652 (GRCm39)	T948A	probably benign	Het
Ptgfr	A	T	3: 151,507,430 (GRCm39)	V311D	probably damaging	Het
Ptpn13	A	G	5: 103,671,558 (GRCm39)	Y495C	probably benign	Het
Sec61g	A	T	11: 16,458,127 (GRCm39)	S23T	probably benign	Het
Sema3a	G	T	5: 13,620,125 (GRCm39)	V458F	probably damaging	Het
Slc16a14	T	A	1: 84,907,078 (GRCm39)	E65D	probably damaging	Het
Slc35f6	T	C	5: 30,805,406 (GRCm39)	M14T	probably damaging	Het
Slc4a10	A	T	2: 62,127,202 (GRCm39)	I882F	probably damaging	Het
Sox17	C	A	1: 4,562,860 (GRCm39)	E48D	possibly damaging	Het
Thbs1	A	T	2: 117,945,236 (GRCm39)	I270F	possibly damaging	Het
Tia1	A	G	6: 86,397,389 (GRCm39)	I121V	probably benign	Het
Trim30d	A	T	7: 104,121,733 (GRCm39)	H337Q	probably benign	Het
Tvp23b	G	A	11: 62,774,544 (GRCm39)	A63T	probably benign	Het
U2surp	C	T	9: 95,367,681 (GRCm39)	V437I	probably damaging	Het
Ube2i	T	C	17: 25,484,298 (GRCm39)		probably benign	Het
Vmn1r62	A	G	7: 5,678,306 (GRCm39)		probably benign	Het
Wdr3	G	A	3: 100,060,183 (GRCm39)	S310F	possibly damaging	Het
Wdr72	A	T	9: 74,058,887 (GRCm39)	M327L	probably benign	Het

Other mutations in Klhl21

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02873:Klhl21	APN	4	152,099,817 (GRCm39)	missense	probably benign	0.00
PIT4418001:Klhl21	UTSW	4	152,099,835 (GRCm39)	missense	possibly damaging	0.94
R0417:Klhl21	UTSW	4	152,099,964 (GRCm39)	missense	probably damaging	1.00
R1583:Klhl21	UTSW	4	152,094,081 (GRCm39)	missense	possibly damaging	0.51
R1599:Klhl21	UTSW	4	152,096,757 (GRCm39)	missense	probably damaging	1.00
R1889:Klhl21	UTSW	4	152,099,877 (GRCm39)	missense	possibly damaging	0.91
R2095:Klhl21	UTSW	4	152,093,850 (GRCm39)	missense	probably benign
R4762:Klhl21	UTSW	4	152,094,268 (GRCm39)	missense	possibly damaging	0.94
R6707:Klhl21	UTSW	4	152,096,784 (GRCm39)	missense	possibly damaging	0.91
R6905:Klhl21	UTSW	4	152,094,184 (GRCm39)	missense	probably benign	0.04
R9492:Klhl21	UTSW	4	152,093,419 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TGCGTGTGGAGATACAATTCGAG -3'
(R):5'- AAACCAGTATGCCATGGCCTC -3'

Sequencing Primer
(F):5'- TACAATTCGAGTGTGAACGAGTG -3'
(R):5'- TGGCCTCACCTGACGAAGTAC -3'

Posted On

2015-09-25