Mutagenetix > Incidental Mutation

Incidental Mutation 'R4450:Klhl42'

381245

Institutional Source

Beutler Lab

Gene Symbol

Klhl42

Ensembl Gene

ENSMUSG00000040102

Gene Name

kelch-like 42

Synonyms

Klhdc5, C230080I20Rik

MMRRC Submission

041711-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4450 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

146992877-147014276 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 146993169 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 47 (G47D)

Ref Sequence

ENSEMBL: ENSMUSP00000042558 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036003] [ENSMUST00000100780] [ENSMUST00000123367]

AlphaFold

Q8BFQ9

Predicted Effect

probably benign
Transcript: ENSMUST00000036003
AA Change: G47D

PolyPhen 2 Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000042558
Gene: ENSMUSG00000040102
AA Change: G47D

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: ENSMUST00000100780

SMART Domains

Protein: ENSMUSP00000098343
Gene: ENSMUSG00000072662

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
MANEC	24	113	5.4e-34	SMART
low complexity region	263	274	N/A	INTRINSIC
transmembrane domain	284	306	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000123367

SMART Domains

Protein: ENSMUSP00000144765
Gene: ENSMUSG00000072662

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
MANEC	24	113	9.4e-40	SMART

Meta Mutation Damage Score

0.1740

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

98% (43/44)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3930402G23Rik	T	A	8: 10,976,129 (GRCm39)		noncoding transcript	Het
Acsl6	A	G	11: 54,219,229 (GRCm39)	D278G	probably damaging	Het
Adamdec1	C	T	14: 68,810,568 (GRCm39)	R196Q	probably benign	Het
Akap13	T	A	7: 75,392,508 (GRCm39)	F2450L	probably damaging	Het
Alg11	C	A	8: 22,558,095 (GRCm39)	A469E	probably benign	Het
Angel1	A	T	12: 86,768,698 (GRCm39)	Y262N	probably damaging	Het
Arhgef18	A	G	8: 3,487,097 (GRCm39)	E272G	probably damaging	Het
Bpifb6	A	G	2: 153,748,688 (GRCm39)	E228G	possibly damaging	Het
Brca2	T	G	5: 150,459,518 (GRCm39)	D264E	probably damaging	Het
Cdca4	T	C	12: 112,785,278 (GRCm39)	N150S	probably benign	Het
Cep162	T	C	9: 87,107,861 (GRCm39)	S510G	probably damaging	Het
Cldn12	T	C	5: 5,558,398 (GRCm39)	T10A	probably damaging	Het
Clip2	C	T	5: 134,531,807 (GRCm39)	G631D	possibly damaging	Het
Col19a1	T	A	1: 24,361,116 (GRCm39)	T625S	probably damaging	Het
Col6a5	C	T	9: 105,781,720 (GRCm39)	G1635D	unknown	Het
Dcp1b	A	G	6: 119,183,437 (GRCm39)	T175A	probably benign	Het
Eln	C	T	5: 134,754,635 (GRCm39)		probably benign	Het
Galnt2	A	G	8: 125,022,116 (GRCm39)	D14G	probably benign	Het
Gm9894	T	A	13: 67,913,199 (GRCm39)		noncoding transcript	Het
Herc2	T	C	7: 55,877,640 (GRCm39)	L4569P	probably damaging	Het
Iqcm	T	C	8: 76,356,394 (GRCm39)	S176P	probably damaging	Het
Lmo2	T	C	2: 103,811,407 (GRCm39)	Y147H	probably damaging	Het
Lzts2	A	T	19: 45,012,032 (GRCm39)	K154*	probably null	Het
Map4k3	C	T	17: 80,911,411 (GRCm39)		probably null	Het
Mlc1	A	G	15: 88,847,693 (GRCm39)	F285S	probably benign	Het
Myo5a	T	A	9: 75,074,458 (GRCm39)	M789K	probably benign	Het
Nbeal1	T	A	1: 60,306,933 (GRCm39)	S319T	probably damaging	Het
Nsun4	A	T	4: 115,908,453 (GRCm39)	Y702*	probably null	Het
Or8b52	A	T	9: 38,577,050 (GRCm39)	V30E	probably benign	Het
Or8g34	G	A	9: 39,373,328 (GRCm39)	M200I	probably benign	Het
Osbpl5	T	A	7: 143,248,643 (GRCm39)	T640S	probably benign	Het
Plaat1	C	T	16: 29,046,976 (GRCm39)	T165M	possibly damaging	Het
Rangrf	A	T	11: 68,866,010 (GRCm39)		probably benign	Het
Rnpc3	T	C	3: 113,404,786 (GRCm39)		probably benign	Het
Ros1	C	T	10: 51,954,038 (GRCm39)	G1867D	probably damaging	Het
Slc11a1	C	A	1: 74,424,694 (GRCm39)		probably benign	Het
Slc15a4	A	G	5: 127,681,600 (GRCm39)		probably null	Het
Speer3	C	G	5: 13,846,394 (GRCm39)	A238G	possibly damaging	Het
Syt6	A	G	3: 103,492,961 (GRCm39)	H156R	probably benign	Het
Tln2	C	T	9: 67,251,347 (GRCm39)		probably null	Het
Trim58	T	C	11: 58,542,191 (GRCm39)	W384R	probably benign	Het
Wwc2	A	G	8: 48,321,702 (GRCm39)	Y471H	unknown	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
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
R8466:Klhl42	UTSW	6	147,009,241 (GRCm39)	missense	probably benign	0.03
R9615:Klhl42	UTSW	6	147,009,373 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCAGAGAGGCCGTTTACTCG -3'
(R):5'- ACAACAGTAGCGGGAATTGC -3'

Sequencing Primer
(F):5'- TACTCGGAGGGCGTGTGAC -3'
(R):5'- TACAGCTCCAGGCAGTTGC -3'

Posted On

2016-04-22