Mutagenetix > Incidental Mutation

Incidental Mutation 'R6500:Klhl38'

519693

Institutional Source

Beutler Lab

Gene Symbol

Klhl38

Ensembl Gene

ENSMUSG00000022357

Gene Name

kelch-like 38

Synonyms

8230402K04Rik

MMRRC Submission

044632-MU

Accession Numbers

Essential gene?

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

Stock #

R6500 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58177969-58187565 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 58185809 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Stop codon at position 307 (G307*)

Ref Sequence

ENSEMBL: ENSMUSP00000022985 (fasta)

Gene Model

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

AlphaFold

Q8BSF5

Predicted Effect

probably null
Transcript: ENSMUST00000022985
AA Change: G307*

SMART Domains

Protein: ENSMUSP00000022985
Gene: ENSMUSG00000022357
AA Change: G307*

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

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.0%

Validation Efficiency

98% (53/54)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam21	A	G	12: 81,606,380 (GRCm39)	F461L	probably benign	Het
Adamtsl3	C	A	7: 82,227,818 (GRCm39)	H1334Q	probably benign	Het
Adgrf1	A	G	17: 43,621,263 (GRCm39)	N500S	probably damaging	Het
Afdn	A	G	17: 14,042,634 (GRCm39)	D335G	possibly damaging	Het
Arhgap19	G	A	19: 41,775,077 (GRCm39)	T178M	probably damaging	Het
Chac2	T	C	11: 30,927,625 (GRCm39)	D86G	probably damaging	Het
Clhc1	T	C	11: 29,510,542 (GRCm39)	S209P	possibly damaging	Het
Col1a2	G	A	6: 4,515,517 (GRCm39)	G127S	unknown	Het
Coro2b	A	G	9: 62,396,606 (GRCm39)	F51L	probably benign	Het
Cux2	A	G	5: 122,002,789 (GRCm39)	S1139P	probably benign	Het
Cyth3	A	T	5: 143,693,595 (GRCm39)	I379F	probably damaging	Het
Dock2	A	T	11: 34,312,822 (GRCm39)	L240H	possibly damaging	Het
Ercc6	A	G	14: 32,248,780 (GRCm39)	K444E	probably damaging	Het
Fam3b	A	G	16: 97,302,101 (GRCm39)	L52P	possibly damaging	Het
Fat4	T	G	3: 39,035,418 (GRCm39)	Y3023*	probably null	Het
Gad1	A	T	2: 70,423,780 (GRCm39)	N396Y	probably damaging	Het
Gbp2b	A	G	3: 142,317,252 (GRCm39)	E536G	probably benign	Het
Gm11564	G	A	11: 99,706,061 (GRCm39)	T123I	unknown	Het
Herc2	G	T	7: 55,796,393 (GRCm39)	E1922*	probably null	Het
Hrh4	G	T	18: 13,155,525 (GRCm39)	V355F	probably damaging	Het
Isyna1	A	G	8: 71,047,339 (GRCm39)	I21V	probably damaging	Het
Jak1	T	C	4: 101,039,130 (GRCm39)	D165G	probably benign	Het
Krt77	T	C	15: 101,772,772 (GRCm39)	N269S	probably damaging	Het
Lrp4	T	A	2: 91,322,765 (GRCm39)	I1118N	possibly damaging	Het
Ly6i	T	C	15: 74,853,833 (GRCm39)	Y30C	probably damaging	Het
Magi2	A	G	5: 20,807,345 (GRCm39)	E620G	possibly damaging	Het
Mbl2	A	G	19: 30,216,839 (GRCm39)	D217G	possibly damaging	Het
Mogat2	T	A	7: 98,871,553 (GRCm39)	I253F	probably benign	Het
Mpped2	T	C	2: 106,691,925 (GRCm39)	L210P	probably damaging	Het
Nav3	C	A	10: 109,600,617 (GRCm39)	A1337S	probably damaging	Het
Ncaph2	T	A	15: 89,248,407 (GRCm39)	V206E	probably benign	Het
Nlgn1	T	C	3: 25,488,094 (GRCm39)	E747G	possibly damaging	Het
Nlrc3	C	T	16: 3,770,308 (GRCm39)	G237D	possibly damaging	Het
Nsun7	A	G	5: 66,452,827 (GRCm39)	D514G	probably benign	Het
Or10al5	C	G	17: 38,063,577 (GRCm39)	D277E	probably damaging	Het
Pals2	A	G	6: 50,175,146 (GRCm39)	K500E	possibly damaging	Het
Pcnx2	C	A	8: 126,480,224 (GRCm39)	V2028F	probably damaging	Het
Pdx1	G	T	5: 147,207,440 (GRCm39)	W131L	probably damaging	Het
Pkdrej	C	T	15: 85,703,747 (GRCm39)	V730I	probably damaging	Het
Plcg1	T	A	2: 160,596,487 (GRCm39)	Y669N	probably damaging	Het
Plpp1	G	T	13: 113,003,454 (GRCm39)	W226L	probably damaging	Het
Sfxn1	G	A	13: 54,242,918 (GRCm39)	V59I	probably benign	Het
Shank1	T	C	7: 43,976,645 (GRCm39)	I581T	unknown	Het
Slc35f6	A	C	5: 30,814,164 (GRCm39)	K150N	possibly damaging	Het
Slc5a7	A	T	17: 54,591,231 (GRCm39)	S234T	probably benign	Het
Smg6	C	T	11: 74,821,331 (GRCm39)	T534I	possibly damaging	Het
Ush2a	C	T	1: 188,573,724 (GRCm39)	T3649I	probably benign	Het
Vmn1r158	T	C	7: 22,490,078 (GRCm39)	T44A	possibly damaging	Het
Vmn1r217	A	T	13: 23,298,073 (GRCm39)	Y276*	probably null	Het
Vmn2r100	T	A	17: 19,742,355 (GRCm39)	I243N	probably damaging	Het
Vwde	T	C	6: 13,208,404 (GRCm39)		probably null	Het
Washc4	C	A	10: 83,394,687 (GRCm39)	P306T	probably damaging	Het
Wdhd1	C	T	14: 47,488,217 (GRCm39)		probably null	Het
Xpo6	T	C	7: 125,770,262 (GRCm39)		probably benign	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
R6430:Klhl38	UTSW	15	58,185,707 (GRCm39)	missense	probably benign
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'- CCCAATGGAGAAGATGAAGTTCC -3'
(R):5'- ACTTCATTGCCAATGACGCC -3'

Sequencing Primer
(F):5'- TGGAGAAGATGAAGTTCCTGTGG -3'
(R):5'- TGCTTGCCAGGCCATCC -3'

Posted On

2018-06-06