Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02272:Klhl25'

287197

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: 0.234) question?

Stock #

IGL02272

Quality Score

Status

Chromosome

Chromosomal Location

75498086-75523881 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 75516368 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 425 (T425A)

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: T425A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000089707
Gene: ENSMUSG00000055652
AA Change: T425A

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: T425A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000133175
Gene: ENSMUSG00000055652
AA Change: T425A

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
AA Change: T120A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000205887

Predicted Effect

probably benign
Transcript: ENSMUST00000206019
AA Change: T425A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206418

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre1	T	A	17: 57,757,021 (GRCm39)	C759*	probably null	Het
Adgrg6	T	A	10: 14,344,573 (GRCm39)	M127L	probably damaging	Het
Anxa9	A	G	3: 95,213,205 (GRCm39)	V47A	probably benign	Het
Arhgef12	T	A	9: 42,912,748 (GRCm39)	D483V	probably damaging	Het
Arrdc3	C	A	13: 81,039,769 (GRCm39)		probably benign	Het
Ccdc169	A	G	3: 55,058,169 (GRCm39)	E67G	probably damaging	Het
Ccdc191	T	A	16: 43,780,385 (GRCm39)	V731D	possibly damaging	Het
Cdh3	G	T	8: 107,274,468 (GRCm39)		probably null	Het
Cntnap1	G	A	11: 101,069,142 (GRCm39)	V199M	probably damaging	Het
Cntnap3	A	T	13: 64,905,225 (GRCm39)	V852E	probably damaging	Het
Csmd1	A	T	8: 16,249,907 (GRCm39)	S1024T	probably damaging	Het
Cyp3a25	T	C	5: 145,930,075 (GRCm39)		probably benign	Het
Dusp6	T	A	10: 99,101,881 (GRCm39)	V289D	probably damaging	Het
Ecpas	A	T	4: 58,811,731 (GRCm39)	N1439K	probably benign	Het
Epha6	C	T	16: 59,639,300 (GRCm39)	R858Q	probably damaging	Het
Flrt2	T	A	12: 95,746,478 (GRCm39)	F272Y	probably damaging	Het
Gbf1	T	A	19: 46,258,242 (GRCm39)	W846R	probably damaging	Het
Gtpbp2	T	A	17: 46,475,707 (GRCm39)	V152E	probably benign	Het
Hmces	A	G	6: 87,894,837 (GRCm39)		probably null	Het
Hsph1	A	G	5: 149,540,995 (GRCm39)	S852P	probably benign	Het
Kat6b	A	C	14: 21,676,846 (GRCm39)	K394Q	probably damaging	Het
Kdr	G	A	5: 76,122,500 (GRCm39)	T475I	probably benign	Het
Klk1b8	T	A	7: 43,602,217 (GRCm39)	C50S	probably damaging	Het
Kri1	T	C	9: 21,187,464 (GRCm39)	Y343C	probably damaging	Het
Lamb1	T	C	12: 31,355,768 (GRCm39)	S953P	probably benign	Het
Lpin1	A	G	12: 16,597,601 (GRCm39)	V681A	probably damaging	Het
Lpin3	A	G	2: 160,743,581 (GRCm39)	T508A	probably benign	Het
Moxd1	T	A	10: 24,158,598 (GRCm39)	Y417*	probably null	Het
Mthfd1l	T	G	10: 3,991,812 (GRCm39)	I588S	probably damaging	Het
Myo5c	C	A	9: 75,173,442 (GRCm39)	N543K	possibly damaging	Het
Myo9a	T	A	9: 59,791,883 (GRCm39)		probably benign	Het
Nme8	T	C	13: 19,842,996 (GRCm39)	Y393C	probably damaging	Het
Nr2e1	T	G	10: 42,443,975 (GRCm39)	N249T	probably damaging	Het
Pex11g	A	G	8: 3,515,898 (GRCm39)	V45A	probably benign	Het
Pkhd1	C	A	1: 20,279,484 (GRCm39)	G2945W	probably damaging	Het
Plxnd1	A	G	6: 115,970,589 (GRCm39)	F393S	probably damaging	Het
Ppp3cc	A	G	14: 70,473,938 (GRCm39)	V353A	probably damaging	Het
Prss16	T	A	13: 22,187,205 (GRCm39)	Q455L	probably damaging	Het
Ptpn6	A	T	6: 124,698,171 (GRCm39)	V524E	probably damaging	Het
Rap1gap	A	G	4: 137,443,877 (GRCm39)	Y163C	probably damaging	Het
Rnf31	C	T	14: 55,836,239 (GRCm39)	L598F	probably damaging	Het
Sardh	T	G	2: 27,115,003 (GRCm39)	D550A	probably benign	Het
Serpinc1	T	G	1: 160,827,562 (GRCm39)	I387S	probably damaging	Het
Sh3d19	A	T	3: 86,028,474 (GRCm39)	D650V	probably benign	Het
Sipa1l2	T	A	8: 126,218,750 (GRCm39)	T196S	probably damaging	Het
Slc25a46	T	C	18: 31,716,621 (GRCm39)	T294A	probably benign	Het
Srrm2	T	C	17: 24,034,756 (GRCm39)		probably benign	Het
Steap2	T	A	5: 5,727,612 (GRCm39)	N241I	probably benign	Het
Tcaf3	T	C	6: 42,573,594 (GRCm39)	Y206C	probably damaging	Het
Tmem259	T	A	10: 79,814,297 (GRCm39)	Q322L	probably damaging	Het
Tnni2	C	A	7: 141,997,166 (GRCm39)	Q52K	possibly damaging	Het
Ttn	A	G	2: 76,565,372 (GRCm39)	V28285A	possibly damaging	Het
Uba7	T	A	9: 107,853,352 (GRCm39)	S99R	probably benign	Het
Ubxn2b	A	T	4: 6,216,071 (GRCm39)	K331N	probably damaging	Het
Usp50	G	A	2: 126,611,864 (GRCm39)	T232I	probably damaging	Het
Vmn2r116	G	A	17: 23,604,973 (GRCm39)	M95I	probably benign	Het
Vmn2r116	T	A	17: 23,604,978 (GRCm39)	L97Q	probably damaging	Het
Vmn2r24	A	T	6: 123,763,843 (GRCm39)	N240I	possibly damaging	Het
Vmn2r72	T	C	7: 85,399,901 (GRCm39)	R383G	probably benign	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
IGL01295:Klhl25	APN	7	75,515,620 (GRCm39)	missense	probably benign	0.20
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

2015-04-16