Mutagenetix > Incidental Mutation

Incidental Mutation 'R3813:Klhl38'

274167

Institutional Source

Beutler Lab

Gene Symbol

Klhl38

Ensembl Gene

ENSMUSG00000022357

Gene Name

kelch-like 38

Synonyms

8230402K04Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

R3813 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

58177969-58187565 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 58185953 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 259 (I259V)

Ref Sequence

ENSEMBL: ENSMUSP00000022985 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022985]

AlphaFold

Q8BSF5

Predicted Effect

probably benign
Transcript: ENSMUST00000022985
AA Change: I259V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000022985
Gene: ENSMUSG00000022357
AA Change: I259V

Domain	Start	End	E-Value	Type
BTB	34	131	2.12e-19	SMART
BACK	136	237	8.69e-29	SMART
Kelch	285	332	4.52e-1	SMART
Kelch	333	383	9.96e-4	SMART
Kelch	384	431	1.5e-1	SMART
Kelch	480	521	9.21e-8	SMART
Kelch	522	573	4.17e-6	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147638

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

100% (50/50)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts3	T	C	5: 89,825,785 (GRCm39)	D1018G	possibly damaging	Het
Adgrg1	T	A	8: 95,738,193 (GRCm39)	L562Q	probably benign	Het
Ankrd11	T	C	8: 123,618,117 (GRCm39)	T1891A	probably benign	Het
Arid2	A	G	15: 96,267,831 (GRCm39)	N648S	probably benign	Het
B4galt3	C	A	1: 171,101,613 (GRCm39)	H196N	probably damaging	Het
Cacna1s	A	T	1: 136,013,085 (GRCm39)	I312F	probably damaging	Het
Cenpj	A	G	14: 56,790,679 (GRCm39)	S457P	probably benign	Het
Cep120	G	A	18: 53,873,284 (GRCm39)		probably benign	Het
Cfap70	T	A	14: 20,471,190 (GRCm39)	I493L	possibly damaging	Het
Cfap97d1	A	T	11: 101,882,314 (GRCm39)	R106S	probably benign	Het
Csmd3	T	C	15: 48,655,209 (GRCm39)	D31G	possibly damaging	Het
Cstf3	T	C	2: 104,439,466 (GRCm39)	Y54H	probably damaging	Het
Cubn	T	A	2: 13,299,136 (GRCm39)	Y3179F	probably damaging	Het
Cyp2s1	C	T	7: 25,505,291 (GRCm39)		probably null	Het
Dll4	C	A	2: 119,161,510 (GRCm39)	T364N	possibly damaging	Het
Doc2g	C	T	19: 4,054,466 (GRCm39)		probably null	Het
Etl4	A	G	2: 20,793,246 (GRCm39)	E657G	probably damaging	Het
Fhdc1	A	G	3: 84,371,577 (GRCm39)		probably null	Het
Fndc1	T	C	17: 7,992,154 (GRCm39)	H514R	unknown	Het
Gpat3	A	G	5: 101,039,505 (GRCm39)		probably benign	Het
H2-Q4	A	G	17: 35,602,071 (GRCm39)	H311R	possibly damaging	Het
Hipk4	T	C	7: 27,223,372 (GRCm39)	L144S	probably damaging	Het
Hspa4	G	A	11: 53,161,806 (GRCm39)	P449S	probably benign	Het
Kif7	A	G	7: 79,363,638 (GRCm39)	V90A	probably damaging	Het
Krt9	T	A	11: 100,080,503 (GRCm39)	E414D	probably damaging	Het
Lmo2	T	C	2: 103,811,407 (GRCm39)	Y147H	probably damaging	Het
Lrp2	G	A	2: 69,294,923 (GRCm39)	P3465L	probably damaging	Het
Lrriq1	T	C	10: 103,051,972 (GRCm39)	E260G	probably damaging	Het
Macf1	A	G	4: 123,268,560 (GRCm39)	S4689P	probably damaging	Het
Manba	G	A	3: 135,269,023 (GRCm39)	E643K	possibly damaging	Het
Mc3r	T	A	2: 172,090,799 (GRCm39)	L7Q	probably benign	Het
Mdga1	G	A	17: 30,057,453 (GRCm39)	P788S	probably damaging	Het
Or5d35	T	C	2: 87,855,105 (GRCm39)	F13S	probably damaging	Het
Or6c70	T	A	10: 129,709,855 (GRCm39)	Y257F	probably damaging	Het
Pcdh12	G	A	18: 38,416,667 (GRCm39)	R153*	probably null	Het
Plk3	T	C	4: 116,990,647 (GRCm39)	Y89C	probably damaging	Het
Prss41	G	A	17: 24,056,596 (GRCm39)	R160*	probably null	Het
Rae1	T	A	2: 172,848,666 (GRCm39)		probably benign	Het
Rbm17	T	A	2: 11,600,246 (GRCm39)		probably benign	Het
Recql4	A	T	15: 76,588,694 (GRCm39)	M1039K	possibly damaging	Het
Setx	GTGGCT	GT	2: 29,044,073 (GRCm39)	1814	probably null	Het
Slit3	A	G	11: 35,566,806 (GRCm39)	Y1026C	probably damaging	Het
Tbl2	T	A	5: 135,185,375 (GRCm39)		probably null	Het
Tex2	G	A	11: 106,402,770 (GRCm39)	T1034I	unknown	Het
Tmem241	A	T	18: 12,200,167 (GRCm39)		probably benign	Het
Tmtc1	T	C	6: 148,256,389 (GRCm39)		probably benign	Het
Trappc9	A	T	15: 72,930,242 (GRCm39)	I38N	probably damaging	Het
Trmt1	T	A	8: 85,421,846 (GRCm39)		probably benign	Het
Vps37d	G	A	5: 135,103,304 (GRCm39)	Q113*	probably null	Het
Zup1	T	C	10: 33,816,218 (GRCm39)	E242G	possibly damaging	Het

Other mutations in Klhl38

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01545:Klhl38	APN	15	58,185,854 (GRCm39)	missense	probably damaging	0.98
IGL01686:Klhl38	APN	15	58,186,707 (GRCm39)	missense	probably benign
IGL01978:Klhl38	APN	15	58,178,485 (GRCm39)	missense	probably damaging	0.99
IGL02227:Klhl38	APN	15	58,186,633 (GRCm39)	missense	possibly damaging	0.68
IGL02413:Klhl38	APN	15	58,186,417 (GRCm39)	missense	probably damaging	0.99
IGL02993:Klhl38	APN	15	58,185,851 (GRCm39)	nonsense	probably null
IGL03351:Klhl38	APN	15	58,186,726 (GRCm39)	start codon destroyed	probably null	0.97
enriched	UTSW	15	58,185,809 (GRCm39)	nonsense	probably null
PIT4812001:Klhl38	UTSW	15	58,185,938 (GRCm39)	missense	probably benign
R2259:Klhl38	UTSW	15	58,178,374 (GRCm39)	missense	possibly damaging	0.70
R4603:Klhl38	UTSW	15	58,186,616 (GRCm39)	missense	possibly damaging	0.49
R5503:Klhl38	UTSW	15	58,185,745 (GRCm39)	missense	possibly damaging	0.57
R6430:Klhl38	UTSW	15	58,185,707 (GRCm39)	missense	probably benign
R6500:Klhl38	UTSW	15	58,185,809 (GRCm39)	nonsense	probably null
R7299:Klhl38	UTSW	15	58,186,376 (GRCm39)	missense	probably damaging	0.98
R7301:Klhl38	UTSW	15	58,186,376 (GRCm39)	missense	probably damaging	0.98
R7862:Klhl38	UTSW	15	58,178,395 (GRCm39)	missense	probably damaging	1.00
R8039:Klhl38	UTSW	15	58,186,258 (GRCm39)	missense	probably benign	0.30
R8808:Klhl38	UTSW	15	58,178,225 (GRCm39)	makesense	probably null
R8867:Klhl38	UTSW	15	58,178,435 (GRCm39)	missense	probably benign	0.31
R8968:Klhl38	UTSW	15	58,185,500 (GRCm39)	missense	probably benign
R9061:Klhl38	UTSW	15	58,186,022 (GRCm39)	missense	probably damaging	0.97
R9259:Klhl38	UTSW	15	58,186,471 (GRCm39)	missense	probably benign	0.00
Z1177:Klhl38	UTSW	15	58,178,332 (GRCm39)	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- ACAACCGTATGGGAAGCTTG -3'
(R):5'- ATGACAGGCTCTGTGGTGAG -3'

Sequencing Primer
(F):5'- AAGCTTGGCTAGGCTCTGC -3'
(R):5'- AAAGGTGTTCGAGGCCCTCATG -3'

Posted On

2015-04-02