Mutagenetix > Incidental Mutation

Incidental Mutation 'R3698:Klhl13'

269903

Institutional Source

Beutler Lab

Gene Symbol

Klhl13

Ensembl Gene

ENSMUSG00000036782

Gene Name

kelch-like 13

Synonyms

1200009K10Rik, D130072F20Rik, Bklhd2

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.115) question?

Stock #

R3698 (G1)

Quality Score

222

Status

Not validated

Chromosome

Chromosomal Location

23085510-23231321 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 23114422 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 94 (T94I)

Ref Sequence

ENSEMBL: ENSMUSP00000110974 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035973] [ENSMUST00000115313] [ENSMUST00000115316] [ENSMUST00000115317] [ENSMUST00000115319]

AlphaFold

Q80TF4

Predicted Effect

probably benign
Transcript: ENSMUST00000035973
AA Change: T84I

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000041190
Gene: ENSMUSG00000036782
AA Change: T84I

Domain	Start	End	E-Value	Type
BTB	75	174	6.43e-19	SMART
BACK	179	280	5.87e-26	SMART
Kelch	324	372	4.58e-3	SMART
Kelch	373	424	1.38e-6	SMART
Kelch	425	471	6.71e-10	SMART
Kelch	472	518	3.68e-7	SMART
Kelch	519	570	1.69e-6	SMART
Kelch	571	619	1.25e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000115313
AA Change: T50I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000110968
Gene: ENSMUSG00000036782
AA Change: T50I

Domain	Start	End	E-Value	Type
BTB	41	140	6.43e-19	SMART
BACK	145	246	5.87e-26	SMART
Kelch	290	338	4.58e-3	SMART
Kelch	339	390	1.38e-6	SMART
Kelch	391	437	6.71e-10	SMART
Kelch	438	484	3.68e-7	SMART
Kelch	485	536	1.69e-6	SMART
Kelch	537	585	1.25e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000115316
AA Change: T86I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000110971
Gene: ENSMUSG00000036782
AA Change: T86I

Domain	Start	End	E-Value	Type
low complexity region	4	19	N/A	INTRINSIC
BTB	77	176	6.43e-19	SMART
BACK	181	282	5.87e-26	SMART
Kelch	326	374	4.58e-3	SMART
Kelch	375	426	1.38e-6	SMART
Kelch	427	473	6.71e-10	SMART
Kelch	474	520	3.68e-7	SMART
Kelch	521	572	1.69e-6	SMART
Kelch	573	621	1.25e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000115317
AA Change: T100I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000110972
Gene: ENSMUSG00000036782
AA Change: T100I

Domain	Start	End	E-Value	Type
BTB	91	190	6.43e-19	SMART
BACK	195	296	5.87e-26	SMART
Kelch	340	388	4.58e-3	SMART
Kelch	389	440	1.38e-6	SMART
Kelch	441	487	6.71e-10	SMART
Kelch	488	534	3.68e-7	SMART
Kelch	535	586	1.69e-6	SMART
Kelch	587	635	1.25e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000115319
AA Change: T94I

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000110974
Gene: ENSMUSG00000036782
AA Change: T94I

Domain	Start	End	E-Value	Type
BTB	85	184	6.43e-19	SMART
BACK	189	290	5.87e-26	SMART
Kelch	334	382	4.58e-3	SMART
Kelch	383	434	1.38e-6	SMART
Kelch	435	481	6.71e-10	SMART
Kelch	482	528	3.68e-7	SMART
Kelch	529	580	1.69e-6	SMART
Kelch	581	629	1.25e-1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144360

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153345

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a BTB and kelch domain containing protein and belongs to the kelch repeat domain containing superfamily of proteins. The encoded protein functions as an adaptor protein that complexes with Cullin 3 and other proteins to form the Cullin 3-based E3 ubiquitin-protein ligase complex. This complex is necessary for proper chromosome segregation and completion of cytokinesis. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afap1l2	C	A	19: 56,904,955 (GRCm39)	S549I	possibly damaging	Het
Aldh4a1	A	G	4: 139,369,562 (GRCm39)	H371R	possibly damaging	Het
Arpc1a	G	T	5: 145,033,001 (GRCm39)	K103N	probably damaging	Het
Btg3	A	G	16: 78,161,722 (GRCm39)	S136P	probably benign	Het
Ckap5	C	A	2: 91,450,511 (GRCm39)	T2014K	probably benign	Het
Dennd10	A	G	19: 60,821,054 (GRCm39)		probably null	Het
Emc1	T	G	4: 139,092,697 (GRCm39)	S546A	possibly damaging	Het
G3bp2	T	C	5: 92,204,139 (GRCm39)	E316G	possibly damaging	Het
Il12a	TCAC	TC	3: 68,605,320 (GRCm39)		probably null	Het
Il6st	T	G	13: 112,640,916 (GRCm39)	D897E	probably benign	Het
Ipo13	A	G	4: 117,757,890 (GRCm39)	L767P	probably damaging	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Morc2a	A	T	11: 3,629,672 (GRCm39)	K364*	probably null	Het
Nat8f2	T	A	6: 85,844,778 (GRCm39)	T195S	probably benign	Het
Nckipsd	G	A	9: 108,688,320 (GRCm39)	G83S	probably damaging	Het
Nfu1	A	G	6: 86,992,634 (GRCm39)	T83A	probably damaging	Het
Nid1	G	A	13: 13,661,344 (GRCm39)	C748Y	probably damaging	Het
Or1af1	C	T	2: 37,110,188 (GRCm39)	P229L	probably damaging	Het
Or5w15	T	C	2: 87,568,360 (GRCm39)	T103A	probably benign	Het
Rgs22	C	T	15: 36,100,038 (GRCm39)	V226I	probably benign	Het
Slc13a4	T	A	6: 35,251,892 (GRCm39)	I467F	probably benign	Het
Stat2	T	A	10: 128,114,662 (GRCm39)	L253Q	probably benign	Het
Tnxb	G	T	17: 34,909,407 (GRCm39)		probably null	Het
Ttn	C	T	2: 76,564,595 (GRCm39)	R28514H	probably damaging	Het
Usp15	T	C	10: 123,017,643 (GRCm39)	D51G	probably damaging	Het
Uvrag	T	C	7: 98,589,150 (GRCm39)	E417G	probably damaging	Het

Other mutations in Klhl13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1951:Klhl13	UTSW	X	23,127,820 (GRCm39)	splice site	probably benign
R3873:Klhl13	UTSW	X	23,151,415 (GRCm39)	missense	probably benign	0.06
R3874:Klhl13	UTSW	X	23,151,415 (GRCm39)	missense	probably benign	0.06
R4241:Klhl13	UTSW	X	23,181,414 (GRCm39)	missense	probably damaging	0.99
R4242:Klhl13	UTSW	X	23,181,414 (GRCm39)	missense	probably damaging	0.99
R9100:Klhl13	UTSW	X	23,113,733 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- GAGTCTGTGATTGTCCACTCAG -3'
(R):5'- GGCTCTGTTTTCAAAATACCCTAG -3'

Sequencing Primer
(F):5'- AGTCTATGAAGTAGAACAGATGGTAG -3'
(R):5'- ACCCTAGATGTATGAGCTTGTAAG -3'

Posted On

2015-03-18