Mutagenetix > Incidental Mutation

Incidental Mutation 'R1061:Klhl25'

94474

Institutional Source

Beutler Lab

Gene Symbol

Klhl25

Ensembl Gene

ENSMUSG00000055652

Gene Name

kelch-like 25

Synonyms

2810402K13Rik

MMRRC Submission

039147-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.234) question?

Stock #

R1061 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

75498086-75523881 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 75516268 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 391 (Y391*)

Ref Sequence

ENSEMBL: ENSMUSP00000146102 (fasta)

Gene Model

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

AlphaFold

Q8R2P1

Predicted Effect

probably null
Transcript: ENSMUST00000092073
AA Change: Y391*

SMART Domains

Protein: ENSMUSP00000089707
Gene: ENSMUSG00000055652
AA Change: Y391*

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 null
Transcript: ENSMUST00000171155
AA Change: Y391*

SMART Domains

Protein: ENSMUSP00000133175
Gene: ENSMUSG00000055652
AA Change: Y391*

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 null
Transcript: ENSMUST00000205612
AA Change: Y86*

Predicted Effect

probably benign
Transcript: ENSMUST00000205887

Predicted Effect

probably null
Transcript: ENSMUST00000206019
AA Change: Y391*

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206418

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 93.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	C	T	2: 69,108,153 (GRCm39)	A715T	probably benign	Het
Ampd2	A	G	3: 107,983,005 (GRCm39)	Y641H	probably damaging	Het
Aqp4	A	T	18: 15,531,248 (GRCm39)	V171E	probably damaging	Het
Arid4a	T	A	12: 71,121,729 (GRCm39)	S381R	probably damaging	Het
Armc8	T	G	9: 99,419,784 (GRCm39)	N51H	probably damaging	Het
Asic5	T	A	3: 81,928,308 (GRCm39)	Y424N	probably damaging	Het
Bcl11a	A	T	11: 24,114,069 (GRCm39)	K471*	probably null	Het
Birc6	A	G	17: 74,996,307 (GRCm39)	T4494A	probably damaging	Het
Btbd9	A	G	17: 30,746,409 (GRCm39)	I139T	probably benign	Het
Ccdc60	C	A	5: 116,310,527 (GRCm39)	R178S	possibly damaging	Het
Cd163	C	T	6: 124,286,128 (GRCm39)	A226V	probably benign	Het
Cibar2	C	A	8: 120,896,443 (GRCm39)		probably null	Het
Cog1	T	G	11: 113,542,863 (GRCm39)	S170A	probably benign	Het
Cwc15	T	C	9: 14,419,211 (GRCm39)	L169P	probably damaging	Het
Cyp3a25	A	T	5: 145,923,643 (GRCm39)	D333E	probably benign	Het
Ddc	C	T	11: 11,779,132 (GRCm39)	V331I	probably benign	Het
Dlc1	T	A	8: 37,325,205 (GRCm39)	T367S	probably benign	Het
Dnah17	T	C	11: 117,943,514 (GRCm39)	D3183G	possibly damaging	Het
Eif2a	T	A	3: 58,452,486 (GRCm39)	Y165*	probably null	Het
Eml6	T	C	11: 29,727,267 (GRCm39)	D1285G	probably damaging	Het
Fasn	T	C	11: 120,713,008 (GRCm39)		probably null	Het
Fbn1	T	C	2: 125,187,883 (GRCm39)	T1549A	probably benign	Het
Fezf2	T	C	14: 12,342,713 (GRCm38)	Y384C	probably damaging	Het
Flvcr1	A	T	1: 190,740,370 (GRCm39)	V550E	probably benign	Het
Gcm2	A	G	13: 41,259,347 (GRCm39)	W41R	probably damaging	Het
Gli2	A	T	1: 118,782,247 (GRCm39)	M160K	possibly damaging	Het
Gpr61	C	T	3: 108,057,623 (GRCm39)	R346H	probably damaging	Het
Hoxa5	A	T	6: 52,181,135 (GRCm39)	S66T	probably benign	Het
Hsph1	A	T	5: 149,541,883 (GRCm39)	V781D	possibly damaging	Het
Kdm3b	G	A	18: 34,929,915 (GRCm39)	V220M	probably damaging	Het
Mc2r	A	T	18: 68,540,880 (GRCm39)	Y138N	probably damaging	Het
Mtap	C	A	4: 89,074,821 (GRCm39)	D106E	probably benign	Het
Nup43	G	T	10: 7,543,435 (GRCm39)	W37L	probably damaging	Het
Nxpe2	T	A	9: 48,237,663 (GRCm39)	E197D	probably damaging	Het
Odad1	T	C	7: 45,591,179 (GRCm39)	I218T	probably damaging	Het
Or10d1c	C	A	9: 38,893,779 (GRCm39)	C187F	probably damaging	Het
Or55b4	T	A	7: 102,133,321 (GRCm39)	*335C	probably null	Het
Or5p60	T	C	7: 107,723,663 (GRCm39)	Y269C	probably damaging	Het
Or8h8	A	T	2: 86,753,126 (GRCm39)	V250D	possibly damaging	Het
Pitrm1	A	G	13: 6,605,611 (GRCm39)	H186R	probably damaging	Het
Pklr	C	T	3: 89,052,188 (GRCm39)	R467C	probably damaging	Het
Plxna2	A	G	1: 194,326,401 (GRCm39)	N112D	probably damaging	Het
Ppp1r16a	C	T	15: 76,577,869 (GRCm39)	Q328*	probably null	Het
Ppp3cb	A	C	14: 20,558,682 (GRCm39)		probably null	Het
R3hcc1l	C	T	19: 42,571,865 (GRCm39)	R135*	probably null	Het
Ralyl	A	C	3: 14,180,761 (GRCm39)	D68A	probably damaging	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
S100a1	T	C	3: 90,418,619 (GRCm39)	N65S	probably damaging	Het
Scn11a	A	T	9: 119,624,729 (GRCm39)	M531K	probably damaging	Het
Slc5a5	T	A	8: 71,342,865 (GRCm39)	M232L	probably benign	Het
Tet3	A	T	6: 83,350,305 (GRCm39)	N1054K	probably damaging	Het
Tg	A	G	15: 66,570,408 (GRCm39)	N1427D	probably benign	Het
Tns1	A	C	1: 73,956,831 (GRCm39)	V530G	probably damaging	Het
Trcg1	C	A	9: 57,153,156 (GRCm39)	Q600K	possibly damaging	Het
Tshz3	A	G	7: 36,468,131 (GRCm39)	E40G	probably damaging	Het
Usp34	T	C	11: 23,334,420 (GRCm39)	F1138S	possibly damaging	Het
Vmn2r26	C	T	6: 124,038,603 (GRCm39)	T726I	probably benign	Het
Vmn2r97	A	T	17: 19,148,440 (GRCm39)	R112*	probably null	Het
Vwa2	G	T	19: 56,897,426 (GRCm39)	R577L	probably benign	Het
Vwa3b	A	C	1: 37,196,511 (GRCm39)	Q46P	probably damaging	Het
Wdr25	T	A	12: 108,958,725 (GRCm39)		probably null	Het
Wrap53	A	G	11: 69,453,226 (GRCm39)	L405P	probably damaging	Het
Zfp629	C	A	7: 127,211,161 (GRCm39)	W216L	probably damaging	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
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
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

Predicted Primers

PCR Primer
(F):5'- AAGGCAGGTCACACACTGCTCATC -3'
(R):5'- AGTTTCAGCTTGGCACTCACCAC -3'

Sequencing Primer
(F):5'- ACACACTGCTCATCTTGGGAG -3'
(R):5'- CTTGCTTCAGGGAGACAGAA -3'

Posted On

2014-01-05