Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01978:Klhl38'

181774

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Klhl38

Ensembl Gene

ENSMUSG00000022357

Gene Name

kelch-like 38

Synonyms

8230402K04Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

IGL01978

Quality Score

Status

Chromosome

Chromosomal Location

58177969-58187565 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 58178485 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 495 (D495G)

Ref Sequence

ENSEMBL: ENSMUSP00000022985 (fasta)

Gene Model

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

AlphaFold

Q8BSF5

Predicted Effect

probably damaging
Transcript: ENSMUST00000022985
AA Change: D495G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000022985
Gene: ENSMUSG00000022357
AA Change: D495G

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9830107B12Rik	T	A	17: 48,453,164 (GRCm39)	T6S	probably damaging	Het
Acot5	T	C	12: 84,122,172 (GRCm39)	V252A	possibly damaging	Het
Bmper	A	T	9: 23,292,737 (GRCm39)	N349Y	probably damaging	Het
Brap	A	G	5: 121,816,910 (GRCm39)		probably benign	Het
Col9a2	G	A	4: 120,901,863 (GRCm39)	G139E	unknown	Het
Cplane1	A	T	15: 8,248,866 (GRCm39)	N1805I	probably damaging	Het
Cyp2j8	A	C	4: 96,392,246 (GRCm39)		probably null	Het
Dcbld2	A	G	16: 58,284,682 (GRCm39)	D612G	probably benign	Het
Dsc3	C	T	18: 20,107,253 (GRCm39)	R456Q	possibly damaging	Het
Fat2	T	C	11: 55,160,972 (GRCm39)	T3253A	probably benign	Het
Hoxc12	T	A	15: 102,845,299 (GRCm39)	H4Q	probably damaging	Het
Il6st	A	G	13: 112,633,891 (GRCm39)	E445G	possibly damaging	Het
Ipo8	T	C	6: 148,678,787 (GRCm39)	E937G	probably benign	Het
Kif5a	A	C	10: 127,081,608 (GRCm39)	D185E	probably benign	Het
Klra5	A	G	6: 129,888,393 (GRCm39)	V11A	probably benign	Het
Lrch1	G	A	14: 75,023,782 (GRCm39)	T581M	probably damaging	Het
Mecom	A	G	3: 30,017,315 (GRCm39)	I450T	probably damaging	Het
Mrgprb2	C	A	7: 48,202,312 (GRCm39)	V138L	probably damaging	Het
Muc15	G	A	2: 110,561,941 (GRCm39)	A126T	probably benign	Het
Mybpc1	A	T	10: 88,367,632 (GRCm39)	I522K	probably damaging	Het
Nectin1	G	A	9: 43,703,444 (GRCm39)	R234H	probably damaging	Het
Or5b98	T	C	19: 12,931,406 (GRCm39)	F151S	probably benign	Het
Or5h22	A	T	16: 58,894,630 (GRCm39)	I271K	probably benign	Het
Pdia6	T	A	12: 17,324,423 (GRCm39)	H91Q	possibly damaging	Het
Pfkfb4	A	T	9: 108,858,010 (GRCm39)	H445L	probably damaging	Het
Pkd1l1	T	C	11: 8,911,336 (GRCm39)	T314A	unknown	Het
Rb1cc1	A	G	1: 6,308,592 (GRCm39)	D159G	probably damaging	Het
Rhoh	T	A	5: 66,050,031 (GRCm39)	S100R	probably benign	Het
Rsbn1	T	A	3: 103,868,816 (GRCm39)	D618E	probably damaging	Het
Slc25a47	T	C	12: 108,817,116 (GRCm39)	V4A	probably damaging	Het
Svs3b	T	A	2: 164,098,541 (GRCm39)	M1L	probably benign	Het
Thsd7a	T	C	6: 12,331,005 (GRCm39)	N1379S	probably benign	Het
Tmed3	T	C	9: 89,586,806 (GRCm39)	D58G	probably benign	Het
Trh	G	A	6: 92,219,596 (GRCm39)	A240V	probably benign	Het
Ubox5	A	T	2: 130,442,372 (GRCm39)	V105E	probably benign	Het
Vmn2r67	A	G	7: 84,800,649 (GRCm39)		probably null	Het
Vps13c	A	G	9: 67,837,925 (GRCm39)	H1825R	probably benign	Het
Wasf1	C	A	10: 40,812,197 (GRCm39)	P329T	unknown	Het
Wee2	T	C	6: 40,432,087 (GRCm39)	F219L	probably damaging	Het
Zp3r	T	C	1: 130,526,678 (GRCm39)	D175G	probably 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
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
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

Posted On

2014-05-07