Mutagenetix > Incidental Mutation

Incidental Mutation 'R6430:Klhl38'

518500

Institutional Source

Beutler Lab

Gene Symbol

Klhl38

Ensembl Gene

ENSMUSG00000022357

Gene Name

kelch-like 38

Synonyms

8230402K04Rik

MMRRC Submission

044568-MU

Accession Numbers

Essential gene?

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

Stock #

R6430 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58177969-58187565 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 58185707 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 341 (T341A)

Ref Sequence

ENSEMBL: ENSMUSP00000022985 (fasta)

Gene Model

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

AlphaFold

Q8BSF5

Predicted Effect

probably benign
Transcript: ENSMUST00000022985
AA Change: T341A

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

SMART Domains

Protein: ENSMUSP00000022985
Gene: ENSMUSG00000022357
AA Change: T341A

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.7%

Validation Efficiency

100% (47/47)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AI661453	C	A	17: 47,777,722 (GRCm39)		probably benign	Het
Ank1	T	A	8: 23,622,125 (GRCm39)	L1513Q	probably damaging	Het
Ap2a1	C	A	7: 44,553,253 (GRCm39)	V676L	probably benign	Het
Arid2	T	C	15: 96,261,575 (GRCm39)	V477A	probably benign	Het
Auh	C	A	13: 53,083,446 (GRCm39)	G17C	probably benign	Het
B3gnt7	T	C	1: 86,233,839 (GRCm39)	F362L	possibly damaging	Het
Cd207	C	T	6: 83,652,869 (GRCm39)	R87H	probably benign	Het
Cdyl	A	G	13: 36,055,589 (GRCm39)	K503R	possibly damaging	Het
Cep350	A	G	1: 155,770,419 (GRCm39)	S1824P	probably damaging	Het
Cmas	T	A	6: 142,713,650 (GRCm39)	M225K	probably benign	Het
Dhx29	T	C	13: 113,081,153 (GRCm39)	S396P	possibly damaging	Het
Epg5	T	C	18: 78,019,100 (GRCm39)	S958P	probably damaging	Het
Espnl	T	C	1: 91,249,970 (GRCm39)	L39P	possibly damaging	Het
Fcsk	A	G	8: 111,610,748 (GRCm39)	V915A	probably benign	Het
Flacc1	T	A	1: 58,717,448 (GRCm39)	K154N	probably damaging	Het
Gatb	A	G	3: 85,544,345 (GRCm39)	N438D	probably benign	Het
Hspg2	T	C	4: 137,266,707 (GRCm39)	C1932R	probably damaging	Het
Jmjd1c	C	T	10: 67,059,939 (GRCm39)	T662I	possibly damaging	Het
Kcng4	A	G	8: 120,359,789 (GRCm39)	S196P	probably damaging	Het
Kcnh7	T	G	2: 62,680,876 (GRCm39)	H237P	probably benign	Het
Klra9	G	T	6: 130,155,995 (GRCm39)	Y253*	probably null	Het
Man2c1	T	C	9: 57,038,517 (GRCm39)	V59A	possibly damaging	Het
Nr2c1	A	T	10: 94,031,203 (GRCm39)	H588L	possibly damaging	Het
Or14a259	A	T	7: 86,013,181 (GRCm39)	Y121*	probably null	Het
Or2j3	T	C	17: 38,616,249 (GRCm39)	I34M	probably benign	Het
Osbpl6	A	G	2: 76,409,620 (GRCm39)	E494G	probably damaging	Het
Per1	T	C	11: 68,995,122 (GRCm39)	L638S	probably damaging	Het
Plekhn1	T	C	4: 156,306,261 (GRCm39)	E603G	probably benign	Het
Prss12	A	T	3: 123,273,243 (GRCm39)	S280C	probably damaging	Het
Pudp	A	G	18: 50,701,307 (GRCm39)	I142T	probably benign	Het
Rabl6	A	T	2: 25,474,849 (GRCm39)	N620K	probably damaging	Het
Rttn	T	A	18: 89,039,809 (GRCm39)	C837S	probably null	Het
Slc16a7	A	G	10: 125,066,887 (GRCm39)	S251P	probably damaging	Het
Slc7a10	A	G	7: 34,897,083 (GRCm39)	I195V	probably benign	Het
Slc9a4	A	T	1: 40,640,014 (GRCm39)	R269*	probably null	Het
Slco6c1	T	A	1: 97,003,699 (GRCm39)	Q466L	probably benign	Het
Smc6	A	G	12: 11,359,235 (GRCm39)	N953S	probably benign	Het
Tex15	T	C	8: 34,061,329 (GRCm39)	V527A	probably benign	Het
Tln2	T	C	9: 67,179,947 (GRCm39)	Y808C	probably damaging	Het
Tmem145	T	C	7: 25,008,463 (GRCm39)	L289P	possibly damaging	Het
Trim3	A	G	7: 105,267,212 (GRCm39)	V389A	probably benign	Het
Vmn1r3	G	A	4: 3,184,971 (GRCm39)	T112I	probably benign	Het
Vps11	C	A	9: 44,272,847 (GRCm39)	A28S	probably benign	Het
Zbtb41	T	A	1: 139,374,945 (GRCm39)	S802T	probably benign	Het
Zmynd10	A	T	9: 107,425,911 (GRCm39)	K82*	probably null	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
R3813:Klhl38	UTSW	15	58,185,953 (GRCm39)	missense	probably benign
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
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'- GCTGTCATACCTCTCCATGGAG -3'
(R):5'- GTAAACTCCTATGGCGCATGC -3'

Sequencing Primer
(F):5'- TCTCCATGGAGGCCAGAAG -3'
(R):5'- GGAGCTCCTACCAAGACTTC -3'

Posted On

2018-05-24