Mutagenetix > Incidental Mutation

Incidental Mutation 'R1583:Klhl21'

257020

Institutional Source

Beutler Lab

Gene Symbol

Klhl21

Ensembl Gene

ENSMUSG00000073700

Gene Name

kelch-like 21

Synonyms

MMRRC Submission

039620-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.102) question?

Stock #

R1583 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

152008803-152017680 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 152009624 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 228 (F228L)

Ref Sequence

ENSEMBL: ENSMUSP00000095380 (fasta)

Gene Model

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

AlphaFold

Q3U410

Predicted Effect

possibly damaging
Transcript: ENSMUST00000097773
AA Change: F228L

PolyPhen 2 Score 0.507 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000095380
Gene: ENSMUSG00000073700
AA Change: F228L

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

Meta Mutation Damage Score

0.4746

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.2%
20x: 88.8%

Validation Efficiency

99% (79/80)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	A	G	5: 76,882,681 (GRCm38)	S691P	probably benign	Het
Adgrb3	T	C	1: 25,226,831 (GRCm38)		probably null	Het
Ankar	A	G	1: 72,679,555 (GRCm38)		probably benign	Het
Aplf	A	T	6: 87,646,033 (GRCm38)	Y355N	probably damaging	Het
Bms1	A	G	6: 118,389,389 (GRCm38)		probably benign	Het
Catsperb	T	C	12: 101,463,114 (GRCm38)	I182T	probably damaging	Het
Cd300ld2	T	C	11: 115,013,777 (GRCm38)	D88G	probably benign	Het
Cebpz	T	C	17: 78,934,752 (GRCm38)	N491S	probably damaging	Het
Crybg2	T	C	4: 134,081,459 (GRCm38)	S1415P	probably damaging	Het
Ddc	A	G	11: 11,829,131 (GRCm38)	V331A	probably benign	Het
Decr2	T	C	17: 26,083,024 (GRCm38)	E244G	probably damaging	Het
Dhrs11	A	G	11: 84,823,117 (GRCm38)	M136T	probably damaging	Het
Eapp	G	A	12: 54,685,948 (GRCm38)	Q126*	probably null	Het
Fam111a	T	A	19: 12,587,778 (GRCm38)	V297D	probably damaging	Het
Fbxo10	A	C	4: 45,062,118 (GRCm38)	L136R	probably damaging	Het
Fbxo30	T	A	10: 11,291,374 (GRCm38)	H613Q	possibly damaging	Het
Frk	A	T	10: 34,591,810 (GRCm38)		probably null	Het
Gm10392	T	A	11: 77,517,481 (GRCm38)	D104V	probably benign	Het
Gpn1	A	G	5: 31,497,338 (GRCm38)	E78G	possibly damaging	Het
Hhip	T	C	8: 79,990,276 (GRCm38)	Y506C	probably damaging	Het
Hid1	G	A	11: 115,356,750 (GRCm38)	S274L	possibly damaging	Het
Immp2l	G	T	12: 41,703,765 (GRCm38)		probably benign	Het
Lamc1	T	A	1: 153,243,478 (GRCm38)		probably null	Het
Lars1	G	A	18: 42,210,050 (GRCm38)	R1101C	probably damaging	Het
Lratd1	G	A	12: 14,150,408 (GRCm38)	A106V	probably benign	Het
Magi2	T	C	5: 19,227,332 (GRCm38)	V15A	probably benign	Het
Map2k7	T	C	8: 4,243,621 (GRCm38)		probably null	Het
Mga	T	A	2: 119,963,960 (GRCm38)	H2590Q	possibly damaging	Het
Mlxip	T	C	5: 123,450,223 (GRCm38)	I238T	possibly damaging	Het
Mylk	T	A	16: 34,875,586 (GRCm38)	D230E	probably benign	Het
Nacad	T	A	11: 6,601,185 (GRCm38)	T669S	probably benign	Het
Nin	C	T	12: 70,031,738 (GRCm38)	M1691I	probably benign	Het
Nlrp4d	C	T	7: 10,382,237 (GRCm38)	A203T	probably damaging	Het
Or10aa1	T	C	1: 174,042,480 (GRCm38)	F177L	probably benign	Het
Or10q12	A	T	19: 13,768,510 (GRCm38)	H56L	probably benign	Het
Or4c106	T	G	2: 88,852,262 (GRCm38)	F104C	probably damaging	Het
Or4k5	C	A	14: 50,148,774 (GRCm38)	M33I	probably benign	Het
Or4k51	A	T	2: 111,754,425 (GRCm38)	M59L	probably damaging	Het
Or5ac19	A	G	16: 59,269,031 (GRCm38)	V212A	probably benign	Het
Osbp	C	A	19: 11,977,829 (GRCm38)	Q282K	probably benign	Het
Osbpl2	A	G	2: 180,148,463 (GRCm38)	S177G	probably damaging	Het
Pax1	A	G	2: 147,366,255 (GRCm38)	H261R	possibly damaging	Het
Pcif1	A	T	2: 164,886,727 (GRCm38)	L274F	probably damaging	Het
Pkhd1	A	G	1: 20,117,825 (GRCm38)	S3420P	probably benign	Het
Prss3	A	C	6: 41,377,627 (GRCm38)		probably benign	Het
Ptk2b	T	C	14: 66,163,114 (GRCm38)	T751A	possibly damaging	Het
Pus10	T	C	11: 23,673,239 (GRCm38)	V126A	probably damaging	Het
Rai14	A	C	15: 10,587,916 (GRCm38)	D258E	probably damaging	Het
Rbp3	T	C	14: 33,954,524 (GRCm38)	V143A	possibly damaging	Het
Sarm1	G	A	11: 78,483,327 (GRCm38)	Q625*	probably null	Het
Scgb1b21	T	G	7: 33,527,667 (GRCm38)		noncoding transcript	Het
Scrn1	A	T	6: 54,520,769 (GRCm38)	V279E	probably damaging	Het
Sipa1l2	T	C	8: 125,421,895 (GRCm38)	T1670A	probably damaging	Het
Slc9a4	A	T	1: 40,600,962 (GRCm38)	I305F	probably benign	Het
Smarcc1	A	G	9: 110,213,617 (GRCm38)	T918A	probably damaging	Het
Tas2r109	A	T	6: 132,980,426 (GRCm38)	H180Q	probably benign	Het
Tas2r121	G	A	6: 132,700,230 (GRCm38)	R260*	probably null	Het
Tenm3	T	C	8: 48,279,074 (GRCm38)	D1249G	probably benign	Het
Tgtp1	C	G	11: 48,987,530 (GRCm38)	G116A	probably damaging	Het
Tial1	A	G	7: 128,443,910 (GRCm38)	Y317H	probably damaging	Het
Top6bl	T	A	19: 4,652,171 (GRCm38)	K282N	probably damaging	Het
Trim66	A	T	7: 109,455,080 (GRCm38)	W1308R	probably damaging	Het
Ulk2	T	G	11: 61,783,545 (GRCm38)	K878N	possibly damaging	Het
Zfp41	T	A	15: 75,618,291 (GRCm38)	S31T	possibly damaging	Het

Other mutations in Klhl21

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02873:Klhl21	APN	4	152,015,360 (GRCm38)	missense	probably benign	0.00
PIT4418001:Klhl21	UTSW	4	152,015,378 (GRCm38)	missense	possibly damaging	0.94
R0417:Klhl21	UTSW	4	152,015,507 (GRCm38)	missense	probably damaging	1.00
R1599:Klhl21	UTSW	4	152,012,300 (GRCm38)	missense	probably damaging	1.00
R1889:Klhl21	UTSW	4	152,015,420 (GRCm38)	missense	possibly damaging	0.91
R2095:Klhl21	UTSW	4	152,009,393 (GRCm38)	missense	probably benign
R4596:Klhl21	UTSW	4	152,012,540 (GRCm38)	missense	probably benign	0.01
R4762:Klhl21	UTSW	4	152,009,811 (GRCm38)	missense	possibly damaging	0.94
R6707:Klhl21	UTSW	4	152,012,327 (GRCm38)	missense	possibly damaging	0.91
R6905:Klhl21	UTSW	4	152,009,727 (GRCm38)	missense	probably benign	0.04
R9492:Klhl21	UTSW	4	152,008,962 (GRCm38)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AACTGCCTGGACATGCAGGACTTC -3'
(R):5'- TCACGTAGATGTCGTTGCCCAGAG -3'

Sequencing Primer
(F):5'- GCGCAACGCTTCATCCTG -3'
(R):5'- CACCTAAGTGATCGGGGAACTC -3'

Posted On

2015-01-09