Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01295:Klhl25'

73092

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Klhl25

Ensembl Gene

ENSMUSG00000055652

Gene Name

kelch-like 25

Synonyms

2810402K13Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.212) question?

Stock #

IGL01295

Quality Score

Status

Chromosome

Chromosomal Location

75498086-75523881 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 75515620 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 175 (H175Q)

Ref Sequence

ENSEMBL: ENSMUSP00000146102 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000092073] [ENSMUST00000171155] [ENSMUST00000205612] [ENSMUST00000205887] [ENSMUST00000206019]

AlphaFold

Q8R2P1

Predicted Effect

probably benign
Transcript: ENSMUST00000092073
AA Change: H175Q

PolyPhen 2 Score 0.198 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000089707
Gene: ENSMUSG00000055652
AA Change: H175Q

Domain	Start	End	E-Value	Type
BTB	46	144	2.43e-28	SMART
BACK	149	251	1.06e-32	SMART
Blast:BTB	256	294	1e-9	BLAST
Kelch	296	340	1.4e0	SMART
Kelch	341	388	6.71e-10	SMART
Kelch	389	444	2.25e-11	SMART
Kelch	445	492	1.22e-1	SMART
Kelch	493	538	1.92e-5	SMART
Kelch	539	585	1.4e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000171155
AA Change: H175Q

PolyPhen 2 Score 0.198 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000133175
Gene: ENSMUSG00000055652
AA Change: H175Q

Domain	Start	End	E-Value	Type
BTB	46	144	2.43e-28	SMART
BACK	149	251	1.06e-32	SMART
Blast:BTB	256	294	1e-9	BLAST
Kelch	296	340	1.4e0	SMART
Kelch	341	388	6.71e-10	SMART
Kelch	389	444	2.25e-11	SMART
Kelch	445	492	1.22e-1	SMART
Kelch	493	538	1.92e-5	SMART
Kelch	539	585	1.4e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000205612

Predicted Effect

probably benign
Transcript: ENSMUST00000205887

Predicted Effect

probably benign
Transcript: ENSMUST00000206019
AA Change: H175Q

PolyPhen 2 Score 0.198 (Sensitivity: 0.92; Specificity: 0.88)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206418

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	G	T	14: 32,383,893 (GRCm39)	L691I	possibly damaging	Het
Ano7	A	G	1: 93,308,200 (GRCm39)	D77G	probably benign	Het
Apol10b	A	T	15: 77,469,796 (GRCm39)	V127E	probably damaging	Het
Apol11b	G	A	15: 77,522,219 (GRCm39)	T26M	probably damaging	Het
Atn1	T	C	6: 124,726,239 (GRCm39)	E80G	probably damaging	Het
Carmil2	T	C	8: 106,422,148 (GRCm39)	M1139T	probably benign	Het
Cd4	G	A	6: 124,856,341 (GRCm39)	T50I	probably benign	Het
Celf5	G	T	10: 81,302,914 (GRCm39)		probably benign	Het
Chd6	G	A	2: 160,830,290 (GRCm39)		probably benign	Het
Col12a1	A	T	9: 79,551,208 (GRCm39)	V2136E	probably damaging	Het
Col4a1	G	T	8: 11,286,075 (GRCm39)		probably benign	Het
Dph1	A	G	11: 75,071,775 (GRCm39)		probably benign	Het
Dvl2	G	T	11: 69,900,410 (GRCm39)	V735F	possibly damaging	Het
Eif3b	A	G	5: 140,427,495 (GRCm39)	I709V	possibly damaging	Het
Elp5	C	T	11: 69,859,296 (GRCm39)		probably benign	Het
Exd1	A	T	2: 119,360,560 (GRCm39)		probably benign	Het
Fbxl4	C	A	4: 22,427,348 (GRCm39)	R530S	probably benign	Het
Fmo4	A	T	1: 162,626,693 (GRCm39)	D284E	probably damaging	Het
Fn3krp	A	G	11: 121,312,380 (GRCm39)	Y31C	probably damaging	Het
Galnt14	G	T	17: 73,811,914 (GRCm39)	Q436K	probably benign	Het
Gm5114	A	T	7: 39,057,241 (GRCm39)	W793R	probably damaging	Het
Gm9376	T	G	14: 118,505,059 (GRCm39)	S164A	possibly damaging	Het
Gtf2ird2	G	A	5: 134,221,603 (GRCm39)	D69N	probably damaging	Het
Hfm1	A	C	5: 107,065,472 (GRCm39)	M69R	possibly damaging	Het
Ighv9-1	A	C	12: 114,057,619 (GRCm39)	S94A	probably damaging	Het
Ikzf2	C	T	1: 69,617,146 (GRCm39)	R67H	probably benign	Het
Ipcef1	A	T	10: 6,850,642 (GRCm39)	F316L	probably damaging	Het
Kdsr	A	G	1: 106,683,187 (GRCm39)	V62A	possibly damaging	Het
Kif23	A	T	9: 61,839,411 (GRCm39)	C279S	possibly damaging	Het
Klf5	C	T	14: 99,539,157 (GRCm39)	T110I	probably benign	Het
Malrd1	G	A	2: 16,106,768 (GRCm39)		probably null	Het
Nfatc4	T	C	14: 56,069,962 (GRCm39)	V710A	probably benign	Het
Optn	G	A	2: 5,037,967 (GRCm39)	T409I	possibly damaging	Het
Or10j3b	A	T	1: 173,043,440 (GRCm39)	Y74F	probably damaging	Het
Or52a5	C	T	7: 103,427,448 (GRCm39)	V35I	probably benign	Het
Pabpc2	T	A	18: 39,907,082 (GRCm39)	Y116N	probably damaging	Het
Pafah1b1	G	T	11: 74,574,473 (GRCm39)	R238S	probably damaging	Het
Pdzd9	C	T	7: 120,267,618 (GRCm39)	G66R	probably damaging	Het
Pih1d1	T	C	7: 44,809,388 (GRCm39)	L285P	probably damaging	Het
Pirb	G	A	7: 3,720,405 (GRCm39)	P323S	probably damaging	Het
Pkd1l1	A	G	11: 8,883,685 (GRCm39)	F396L	possibly damaging	Het
Pla2g4d	G	A	2: 120,112,207 (GRCm39)	T108M	probably damaging	Het
Plin3	T	C	17: 56,586,814 (GRCm39)	Y411C	probably damaging	Het
Ppfibp2	T	C	7: 107,346,746 (GRCm39)		probably benign	Het
Prrc2c	T	C	1: 162,510,061 (GRCm39)	S995G	probably damaging	Het
Ptf1a	T	C	2: 19,451,429 (GRCm39)	I253T	probably damaging	Het
Ptprb	A	G	10: 116,198,553 (GRCm39)	I1684V	probably benign	Het
Ptprk	G	A	10: 28,351,174 (GRCm39)	V556I	probably benign	Het
Rffl	A	T	11: 82,709,283 (GRCm39)	C47S	probably damaging	Het
Rnf17	C	T	14: 56,700,521 (GRCm39)	Q569*	probably null	Het
Shprh	A	G	10: 11,059,612 (GRCm39)	E1121G	probably damaging	Het
Slc1a5	A	G	7: 16,529,787 (GRCm39)	D402G	probably damaging	Het
Slc24a3	G	A	2: 145,458,634 (GRCm39)		probably null	Het
Slc2a13	T	A	15: 91,234,335 (GRCm39)		probably null	Het
Slc30a8	A	T	15: 52,169,955 (GRCm39)	N61Y	possibly damaging	Het
Slitrk6	A	T	14: 110,988,868 (GRCm39)	S280T	possibly damaging	Het
Smad2	G	A	18: 76,435,501 (GRCm39)	A365T	probably benign	Het
Tcp10b	C	T	17: 13,299,047 (GRCm39)	P367S	probably damaging	Het
Tdp1	A	G	12: 99,857,929 (GRCm39)	N163D	probably benign	Het
Thbs1	A	G	2: 117,948,808 (GRCm39)	D488G	possibly damaging	Het
Trappc12	C	T	12: 28,796,761 (GRCm39)	S257N	probably damaging	Het
Treml1	T	C	17: 48,672,627 (GRCm39)		probably benign	Het
Ugt2b36	A	G	5: 87,228,744 (GRCm39)	V234A	probably damaging	Het
Vmn2r86	T	G	10: 130,288,895 (GRCm39)	H202P	probably damaging	Het
Vmn2r87	C	A	10: 130,307,878 (GRCm39)	V787F	probably damaging	Het
Wbp2nl	T	A	15: 82,190,619 (GRCm39)	M129K	probably damaging	Het
Zdhhc15	T	C	X: 103,588,519 (GRCm39)		probably null	Het

Other mutations in Klhl25

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01068:Klhl25	APN	7	75,515,897 (GRCm39)	nonsense	probably null
IGL01142:Klhl25	APN	7	75,516,344 (GRCm39)	missense	probably damaging	1.00
IGL02272:Klhl25	APN	7	75,516,368 (GRCm39)	missense	probably benign
IGL02721:Klhl25	APN	7	75,516,648 (GRCm39)	missense	probably damaging	1.00
R0196:Klhl25	UTSW	7	75,515,450 (GRCm39)	missense	probably damaging	1.00
R0365:Klhl25	UTSW	7	75,516,264 (GRCm39)	missense	probably damaging	1.00
R0828:Klhl25	UTSW	7	75,515,943 (GRCm39)	missense	probably damaging	0.99
R0881:Klhl25	UTSW	7	75,516,027 (GRCm39)	missense	probably damaging	1.00
R1061:Klhl25	UTSW	7	75,516,268 (GRCm39)	nonsense	probably null
R1228:Klhl25	UTSW	7	75,515,868 (GRCm39)	missense	probably benign
R1696:Klhl25	UTSW	7	75,516,591 (GRCm39)	missense	probably damaging	1.00
R1991:Klhl25	UTSW	7	75,516,480 (GRCm39)	missense	probably damaging	1.00
R2118:Klhl25	UTSW	7	75,516,480 (GRCm39)	missense	probably damaging	1.00
R4359:Klhl25	UTSW	7	75,516,480 (GRCm39)	missense	probably damaging	1.00
R4428:Klhl25	UTSW	7	75,515,162 (GRCm39)	missense	probably damaging	0.97
R4431:Klhl25	UTSW	7	75,515,162 (GRCm39)	missense	probably damaging	0.97
R4717:Klhl25	UTSW	7	75,516,528 (GRCm39)	missense	probably damaging	1.00
R4860:Klhl25	UTSW	7	75,516,798 (GRCm39)	missense	probably benign	0.03
R4860:Klhl25	UTSW	7	75,516,798 (GRCm39)	missense	probably benign	0.03
R5619:Klhl25	UTSW	7	75,516,602 (GRCm39)	missense	probably benign	0.22
R5637:Klhl25	UTSW	7	75,515,540 (GRCm39)	splice site	probably null
R5652:Klhl25	UTSW	7	75,515,895 (GRCm39)	missense	probably benign	0.06
R5840:Klhl25	UTSW	7	75,516,440 (GRCm39)	missense	possibly damaging	0.92
R6693:Klhl25	UTSW	7	75,516,561 (GRCm39)	missense	possibly damaging	0.91
R6723:Klhl25	UTSW	7	75,515,739 (GRCm39)	missense	possibly damaging	0.64
R6875:Klhl25	UTSW	7	75,516,090 (GRCm39)	missense	probably damaging	1.00
R7239:Klhl25	UTSW	7	75,516,516 (GRCm39)	missense	probably benign	0.25
R8535:Klhl25	UTSW	7	75,515,843 (GRCm39)	missense	probably benign
R8712:Klhl25	UTSW	7	75,515,420 (GRCm39)	missense	probably damaging	0.99
R8768:Klhl25	UTSW	7	75,516,359 (GRCm39)	missense	probably damaging	1.00
R8827:Klhl25	UTSW	7	75,516,391 (GRCm39)	missense	possibly damaging	0.70
R9033:Klhl25	UTSW	7	75,516,681 (GRCm39)	missense	probably damaging	0.98
R9046:Klhl25	UTSW	7	75,515,337 (GRCm39)	missense	probably damaging	1.00
R9404:Klhl25	UTSW	7	75,515,153 (GRCm39)	missense	probably benign	0.01
R9480:Klhl25	UTSW	7	75,516,120 (GRCm39)	missense	probably damaging	0.99
R9601:Klhl25	UTSW	7	75,515,757 (GRCm39)	missense	probably damaging	1.00
R9762:Klhl25	UTSW	7	75,516,741 (GRCm39)	missense	probably damaging	1.00
Z1177:Klhl25	UTSW	7	75,515,870 (GRCm39)	missense	possibly damaging	0.87

Posted On

2013-10-07