Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02590:Klhl42'

299710

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Klhl42

Ensembl Gene

ENSMUSG00000040102

Gene Name

kelch-like 42

Synonyms

Klhdc5, C230080I20Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02590

Quality Score

Status

Chromosome

Chromosomal Location

146992877-147014276 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 146993810 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 261 (S261P)

Ref Sequence

ENSEMBL: ENSMUSP00000042558 (fasta)

Gene Model

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

AlphaFold

Q8BFQ9

Predicted Effect

probably damaging
Transcript: ENSMUST00000036003
AA Change: S261P

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000042558
Gene: ENSMUSG00000040102
AA Change: S261P

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl3	A	G	4: 144,184,404 (GRCm39)	F118S	probably damaging	Het
Adam5	T	G	8: 25,234,151 (GRCm39)		probably benign	Het
Bok	T	C	1: 93,614,397 (GRCm39)		probably benign	Het
C1s1	C	T	6: 124,508,235 (GRCm39)	V585I	possibly damaging	Het
Chd2	C	T	7: 73,102,948 (GRCm39)	V1346I	probably benign	Het
Cyb5a	A	T	18: 84,889,732 (GRCm39)	T54S	probably benign	Het
Dnah7b	A	T	1: 46,162,937 (GRCm39)	T428S	probably benign	Het
Efhc1	T	C	1: 21,037,608 (GRCm39)	Y262H	probably damaging	Het
Fyb2	A	T	4: 104,836,250 (GRCm39)	I404F	probably damaging	Het
Glra2	T	C	X: 164,037,222 (GRCm39)	N237S	probably benign	Het
Gypc	A	G	18: 32,663,060 (GRCm39)	*96R	probably null	Het
Il15	T	C	8: 83,069,912 (GRCm39)	I51V	probably benign	Het
Itgb2	T	C	10: 77,395,347 (GRCm39)	C483R	probably damaging	Het
Kdr	C	T	5: 76,096,983 (GRCm39)	D1272N	probably benign	Het
Kif14	C	A	1: 136,423,742 (GRCm39)	T969K	probably benign	Het
Lrp1	C	A	10: 127,388,660 (GRCm39)	G3263V	probably damaging	Het
Mid1	A	G	X: 168,710,019 (GRCm39)	E5G	probably damaging	Het
Mmrn2	T	A	14: 34,121,224 (GRCm39)	L698*	probably null	Het
Myh14	T	G	7: 44,273,503 (GRCm39)	Q1393P	probably damaging	Het
Ncoa7	C	T	10: 30,570,159 (GRCm39)	E267K	probably damaging	Het
Obox5	T	C	7: 15,491,517 (GRCm39)	I19T	possibly damaging	Het
Or13a20	A	G	7: 140,232,305 (GRCm39)		probably null	Het
Or8k22	A	G	2: 86,163,344 (GRCm39)	S119P	possibly damaging	Het
Pcnx1	A	G	12: 82,041,752 (GRCm39)	Y2128C	probably damaging	Het
Plcb1	A	G	2: 135,136,784 (GRCm39)	D293G	probably benign	Het
Prpf4b	T	C	13: 35,072,129 (GRCm39)		probably benign	Het
Psapl1	A	T	5: 36,362,397 (GRCm39)	T330S	probably benign	Het
Rap1gap	A	G	4: 137,447,611 (GRCm39)	T453A	probably damaging	Het
Ric1	T	A	19: 29,544,881 (GRCm39)		probably benign	Het
Robo1	A	G	16: 72,840,020 (GRCm39)	E1590G	probably benign	Het
Sorl1	C	T	9: 41,957,857 (GRCm39)	V596I	probably benign	Het
Tlr12	A	G	4: 128,511,182 (GRCm39)	I356T	probably benign	Het
Trav8d-2	T	C	14: 53,279,906 (GRCm39)	S8P	possibly damaging	Het
Tyms	C	A	5: 30,269,149 (GRCm39)	V75L	probably benign	Het
Vmn1r230	T	A	17: 21,067,172 (GRCm39)	S120R	probably damaging	Het
Vmn2r84	T	A	10: 130,227,356 (GRCm39)		probably benign	Het
Wdr27	C	T	17: 15,138,041 (GRCm39)	A388T	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
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
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

Posted On

2015-04-16