Mutagenetix > Incidental Mutation

Incidental Mutation 'R8466:Klhl42'

656828

Institutional Source

Beutler Lab

Gene Symbol

Klhl42

Ensembl Gene

ENSMUSG00000040102

Gene Name

kelch-like 42

Synonyms

Klhdc5, C230080I20Rik

MMRRC Submission

067910-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8466 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

146992877-147014276 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 147009241 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 360 (T360M)

Ref Sequence

ENSEMBL: ENSMUSP00000042558 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036003] [ENSMUST00000203441]

AlphaFold

Q8BFQ9

Predicted Effect

probably benign
Transcript: ENSMUST00000036003
AA Change: T360M

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000042558
Gene: ENSMUSG00000040102
AA Change: T360M

Domain	Start	End	E-Value	Type
BTB	5	145	1.14e-1	SMART
low complexity region	151	164	N/A	INTRINSIC
Kelch	242	289	1.79e-5	SMART
Kelch	290	332	1.25e-9	SMART
Kelch	333	379	1.56e1	SMART
Blast:Kelch	380	437	3e-31	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000203441

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203866

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	A	G	10: 100,437,873 (GRCm39)	E94G	probably benign	Het
Abhd16a	G	T	17: 35,313,236 (GRCm39)	R118L	probably damaging	Het
Adamts1	A	G	16: 85,599,400 (GRCm39)	S67P	probably benign	Het
Adar	C	T	3: 89,658,466 (GRCm39)	P656L	probably damaging	Het
Afg3l1	G	A	8: 124,216,648 (GRCm39)	D296N	probably benign	Het
Akap9	G	A	5: 4,088,659 (GRCm39)	R2096Q	probably damaging	Het
Aldh1a2	T	A	9: 71,160,205 (GRCm39)	I77K	probably benign	Het
Cacnb4	A	C	2: 52,354,679 (GRCm39)	V233G	probably damaging	Het
Cage1	T	A	13: 38,206,987 (GRCm39)	Q286L	probably damaging	Het
Camta1	T	A	4: 151,170,577 (GRCm39)	K1055*	probably null	Het
Ccdc96	C	A	5: 36,642,252 (GRCm39)		probably benign	Het
Cep70	T	C	9: 99,160,073 (GRCm39)		probably null	Het
Cwc27	G	T	13: 104,940,772 (GRCm39)	P196T	probably benign	Het
Cwc27	C	A	13: 104,940,776 (GRCm39)	L194F	possibly damaging	Het
Ddx24	G	T	12: 103,376,160 (GRCm39)	L779I	probably benign	Het
Dock7	T	C	4: 98,952,336 (GRCm39)	E378G	possibly damaging	Het
Fan1	T	A	7: 64,022,234 (GRCm39)	N340Y	probably damaging	Het
Flnc	A	G	6: 29,438,621 (GRCm39)	N172D	probably damaging	Het
Gprin3	C	A	6: 59,331,466 (GRCm39)	Q280H	possibly damaging	Het
Gprin3	T	A	6: 59,331,467 (GRCm39)	Q280L	probably benign	Het
Gucy2d	C	A	7: 98,099,237 (GRCm39)	P351Q	probably damaging	Het
H2-M11	G	A	17: 36,858,985 (GRCm39)	G175D	probably benign	Het
Lama1	G	A	17: 68,120,948 (GRCm39)	E2695K		Het
Lsg1	T	C	16: 30,400,919 (GRCm39)	Q130R	probably benign	Het
Macf1	T	C	4: 123,349,237 (GRCm39)	T2100A	probably benign	Het
Muc16	T	C	9: 18,554,444 (GRCm39)	T3950A	unknown	Het
Myo1c	G	A	11: 75,549,213 (GRCm39)	R109H	probably damaging	Het
Nol4	C	A	18: 23,171,638 (GRCm39)	A8S	probably benign	Het
Or1e1f	A	T	11: 73,855,913 (GRCm39)	T160S	probably damaging	Het
Or1p1b	A	G	11: 74,131,016 (GRCm39)	I209V	probably benign	Het
Pabpn1l	C	T	8: 123,347,625 (GRCm39)	V216M	possibly damaging	Het
Papln	A	C	12: 83,825,255 (GRCm39)		probably null	Het
Pcsk5	A	T	19: 17,549,864 (GRCm39)	C709*	probably null	Het
Pglyrp3	T	A	3: 91,921,941 (GRCm39)	V3E	probably benign	Het
Pla2g4f	T	C	2: 120,130,963 (GRCm39)	N831D	probably damaging	Het
Prp2rt	T	C	13: 97,235,492 (GRCm39)	D85G	probably damaging	Het
Prss22	T	C	17: 24,215,802 (GRCm39)	D40G	probably benign	Het
Rap1gap2	A	G	11: 74,316,057 (GRCm39)	F208S	probably benign	Het
Sipa1l2	A	T	8: 126,218,985 (GRCm39)	N117K	probably damaging	Het
Srsf9	G	C	5: 115,465,492 (GRCm39)	R42P	probably benign	Het
Stat3	A	T	11: 100,785,924 (GRCm39)	I451N	probably damaging	Het
Tecrl	A	T	5: 83,428,367 (GRCm39)	Y301*	probably null	Het
Togaram1	T	C	12: 65,033,216 (GRCm39)	S1065P	probably benign	Het
Usp48	T	A	4: 137,350,630 (GRCm39)	L39Q	probably null	Het
Utp20	A	T	10: 88,654,365 (GRCm39)	S241T	probably damaging	Het
Vmn2r50	A	G	7: 9,783,997 (GRCm39)	F159S	probably damaging	Het
Wdr76	A	C	2: 121,341,038 (GRCm39)	N28H	probably damaging	Het
Zfhx2	T	A	14: 55,310,353 (GRCm39)	Y731F	possibly damaging	Het
Zfhx4	A	T	3: 5,307,762 (GRCm39)	E329D	probably damaging	Het
Zswim8	A	T	14: 20,760,744 (GRCm39)	Q83L	possibly damaging	Het

Other mutations in Klhl42

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00339:Klhl42	APN	6	147,003,231 (GRCm39)	missense	probably damaging	1.00
IGL01401:Klhl42	APN	6	147,009,241 (GRCm39)	missense	probably benign	0.03
IGL02590:Klhl42	APN	6	146,993,810 (GRCm39)	missense	probably damaging	0.97
R0045:Klhl42	UTSW	6	146,993,666 (GRCm39)	missense	probably benign
R1066:Klhl42	UTSW	6	147,009,397 (GRCm39)	missense	probably benign
R1920:Klhl42	UTSW	6	147,009,427 (GRCm39)	missense	probably damaging	1.00
R1951:Klhl42	UTSW	6	146,993,321 (GRCm39)	missense	probably damaging	0.99
R2017:Klhl42	UTSW	6	147,009,291 (GRCm39)	missense	probably benign	0.04
R2021:Klhl42	UTSW	6	146,993,394 (GRCm39)	missense	possibly damaging	0.59
R2065:Klhl42	UTSW	6	147,003,161 (GRCm39)	missense	probably damaging	1.00
R2128:Klhl42	UTSW	6	147,003,251 (GRCm39)	missense	probably benign	0.00
R2982:Klhl42	UTSW	6	146,993,114 (GRCm39)	missense	probably damaging	1.00
R3415:Klhl42	UTSW	6	147,009,378 (GRCm39)	missense	probably damaging	1.00
R3416:Klhl42	UTSW	6	147,009,378 (GRCm39)	missense	probably damaging	1.00
R3417:Klhl42	UTSW	6	147,009,378 (GRCm39)	missense	probably damaging	1.00
R4450:Klhl42	UTSW	6	146,993,169 (GRCm39)	missense	probably benign	0.16
R4967:Klhl42	UTSW	6	147,009,502 (GRCm39)	missense	possibly damaging	0.77
R5342:Klhl42	UTSW	6	146,993,784 (GRCm39)	missense	possibly damaging	0.86
R5556:Klhl42	UTSW	6	147,009,610 (GRCm39)	missense	probably benign	0.00
R6269:Klhl42	UTSW	6	146,993,805 (GRCm39)	missense	probably damaging	1.00
R7375:Klhl42	UTSW	6	146,993,538 (GRCm39)	missense	probably benign
R7769:Klhl42	UTSW	6	146,993,358 (GRCm39)	missense	possibly damaging	0.95
R7848:Klhl42	UTSW	6	147,009,598 (GRCm39)	missense	probably damaging	1.00
R8353:Klhl42	UTSW	6	147,009,421 (GRCm39)	missense	probably damaging	0.97
R9615:Klhl42	UTSW	6	147,009,373 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGGTGAGAATCCAGATGACC -3'
(R):5'- TTGGACGTGTTCTCCTTCAG -3'

Sequencing Primer
(F):5'- TCTGCCCCATCTGCTTAGAAAAC -3'
(R):5'- TCCTTCAGGTAGAGCCACTGAC -3'

Posted On

2021-01-18