Mutagenetix > Incidental Mutation

Incidental Mutation 'R6875:Klhl25'

536374

Institutional Source

Beutler Lab

Gene Symbol

Klhl25

Ensembl Gene

ENSMUSG00000055652

Gene Name

kelch-like 25

Synonyms

MMRRC Submission

044971-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.250) question?

Stock #

R6875 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

75848310-75874131 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 75866342 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 332 (E332G)

Ref Sequence

ENSEMBL: ENSMUSP00000146102 (fasta)

Gene Model

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

AlphaFold

Q8R2P1

Predicted Effect

probably damaging
Transcript: ENSMUST00000092073
AA Change: E332G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000089707
Gene: ENSMUSG00000055652
AA Change: E332G

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 damaging
Transcript: ENSMUST00000171155
AA Change: E332G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000133175
Gene: ENSMUSG00000055652
AA Change: E332G

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 damaging
Transcript: ENSMUST00000205612
AA Change: E27G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Predicted Effect

probably benign
Transcript: ENSMUST00000205887

Predicted Effect

probably damaging
Transcript: ENSMUST00000206019
AA Change: E332G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

Validation Efficiency

98% (58/59)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6030458C11Rik	T	C	15: 12,812,068 (GRCm38)	H270R	probably damaging	Het
Abcb1a	T	C	5: 8,701,628 (GRCm38)	I336T	probably benign	Het
Adam19	T	A	11: 46,112,875 (GRCm38)	F177I	probably benign	Het
Ankrd53	T	C	6: 83,768,173 (GRCm38)	V455A	probably damaging	Het
Arrdc1	A	G	2: 24,925,665 (GRCm38)	S415P	probably benign	Het
Atp10a	T	C	7: 58,797,352 (GRCm38)	L614P	probably benign	Het
C130060K24Rik	A	T	6: 65,456,336 (GRCm38)	N380I	probably benign	Het
Catsper1	G	T	19: 5,343,963 (GRCm38)	V668F	probably damaging	Het
Cluh	T	A	11: 74,661,918 (GRCm38)	D596E	probably damaging	Het
Cnot10	A	G	9: 114,615,107 (GRCm38)	S407P	probably benign	Het
Commd6	T	C	14: 101,634,350 (GRCm38)	T86A	probably damaging	Het
D5Ertd579e	A	T	5: 36,604,657 (GRCm38)		probably null	Het
Eif3l	A	G	15: 79,085,560 (GRCm38)	D252G	probably damaging	Het
Epha2	A	T	4: 141,328,468 (GRCm38)	S962C	probably damaging	Het
Fcho1	C	A	8: 71,714,425 (GRCm38)		probably null	Het
Fgf23	G	T	6: 127,073,216 (GRCm38)	G63C	probably damaging	Het
Flnc	A	T	6: 29,445,749 (GRCm38)	Y834F	probably damaging	Het
Gcn1l1	T	C	5: 115,588,110 (GRCm38)	L608P	probably damaging	Het
Hdac5	T	A	11: 102,202,276 (GRCm38)	E545V	probably damaging	Het
Hecw2	A	T	1: 53,937,132 (GRCm38)	M166K	probably benign	Het
Ikbkb	T	C	8: 22,665,893 (GRCm38)	D586G	probably damaging	Het
Il1f9	G	C	2: 24,188,621 (GRCm38)		probably null	Het
Ipo13	A	T	4: 117,904,911 (GRCm38)	I422N	possibly damaging	Het
Iqgap3	GGAGAG	GGAG	3: 88,112,771 (GRCm38)		probably null	Het
Kat6a	G	A	8: 22,932,361 (GRCm38)	A896T	probably benign	Het
Kif28	A	G	1: 179,735,994 (GRCm38)	I139T	probably damaging	Het
Krt8	C	T	15: 101,997,908 (GRCm38)	A389T	probably benign	Het
Msrb3	T	C	10: 120,784,106 (GRCm38)	S175G	probably benign	Het
Muc5ac	C	T	7: 141,809,744 (GRCm38)		probably benign	Het
Myo10	T	C	15: 25,805,659 (GRCm38)	Y1709H	probably benign	Het
Nckap5	A	G	1: 126,023,194 (GRCm38)	S1519P	probably benign	Het
Npnt	T	A	3: 132,909,910 (GRCm38)	D124V	probably damaging	Het
Nr1d1	A	T	11: 98,770,836 (GRCm38)		probably null	Het
Ogdh	A	G	11: 6,340,477 (GRCm38)	Y365C	probably benign	Het
Olfr1305	A	T	2: 111,872,961 (GRCm38)	I298N	possibly damaging	Het
Phf21b	A	T	15: 84,787,446 (GRCm38)	C416S	probably damaging	Het
Prpsap1	A	G	11: 116,471,438 (GRCm38)	S373P	probably damaging	Het
Rab28	T	C	5: 41,703,534 (GRCm38)	T26A	probably damaging	Het
Rbbp8nl	A	G	2: 180,279,226 (GRCm38)	I455T	probably benign	Het
Rnft2	G	A	5: 118,228,818 (GRCm38)	A285V	possibly damaging	Het
Rrp36	G	T	17: 46,672,371 (GRCm38)	Q106K	probably benign	Het
Rsf1	CG	CGACGGCGGAG	7: 97,579,908 (GRCm38)		probably benign	Het
Runx2	G	A	17: 44,814,192 (GRCm38)	P80L	probably damaging	Het
Scn5a	A	G	9: 119,486,644 (GRCm38)	L1666P	probably damaging	Het
Siglecf	A	C	7: 43,355,200 (GRCm38)	T318P	probably benign	Het
Slc22a1	C	T	17: 12,667,305 (GRCm38)	W147*	probably null	Het
Smchd1	T	C	17: 71,353,506 (GRCm38)	I1868V	probably damaging	Het
Snx21	A	G	2: 164,791,902 (GRCm38)	S203G	probably damaging	Het
Srl	T	C	16: 4,482,831 (GRCm38)	K792R	probably benign	Het
Srrt	A	G	5: 137,298,673 (GRCm38)	F100S	probably benign	Het
Stard9	G	T	2: 120,697,436 (GRCm38)	M1391I	probably benign	Het
Syne2	A	G	12: 76,035,630 (GRCm38)	E119G	probably damaging	Het
Syt11	G	T	3: 88,762,155 (GRCm38)	S143R	possibly damaging	Het
Tiparp	T	A	3: 65,531,642 (GRCm38)	H126Q	probably benign	Het
Tulp2	C	A	7: 45,518,614 (GRCm38)	T150K	probably benign	Het
Ugt2b37	T	A	5: 87,242,429 (GRCm38)	Y386F	probably benign	Het
Usp31	C	T	7: 121,649,640 (GRCm38)	W860*	probably null	Het
Zfp317	A	G	9: 19,643,665 (GRCm38)	R30G	probably damaging	Het
Zfp709	C	A	8: 71,889,007 (GRCm38)	N93K	possibly damaging	Het

Other mutations in Klhl25

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01068:Klhl25	APN	7	75,866,149 (GRCm38)	nonsense	probably null
IGL01142:Klhl25	APN	7	75,866,596 (GRCm38)	missense	probably damaging	1.00
IGL01295:Klhl25	APN	7	75,865,872 (GRCm38)	missense	probably benign	0.20
IGL02272:Klhl25	APN	7	75,866,620 (GRCm38)	missense	probably benign
IGL02721:Klhl25	APN	7	75,866,900 (GRCm38)	missense	probably damaging	1.00
R0196:Klhl25	UTSW	7	75,865,702 (GRCm38)	missense	probably damaging	1.00
R0365:Klhl25	UTSW	7	75,866,516 (GRCm38)	missense	probably damaging	1.00
R0828:Klhl25	UTSW	7	75,866,195 (GRCm38)	missense	probably damaging	0.99
R0881:Klhl25	UTSW	7	75,866,279 (GRCm38)	missense	probably damaging	1.00
R1061:Klhl25	UTSW	7	75,866,520 (GRCm38)	nonsense	probably null
R1228:Klhl25	UTSW	7	75,866,120 (GRCm38)	missense	probably benign
R1696:Klhl25	UTSW	7	75,866,843 (GRCm38)	missense	probably damaging	1.00
R1991:Klhl25	UTSW	7	75,866,732 (GRCm38)	missense	probably damaging	1.00
R2118:Klhl25	UTSW	7	75,866,732 (GRCm38)	missense	probably damaging	1.00
R4359:Klhl25	UTSW	7	75,866,732 (GRCm38)	missense	probably damaging	1.00
R4428:Klhl25	UTSW	7	75,865,414 (GRCm38)	missense	probably damaging	0.97
R4431:Klhl25	UTSW	7	75,865,414 (GRCm38)	missense	probably damaging	0.97
R4717:Klhl25	UTSW	7	75,866,780 (GRCm38)	missense	probably damaging	1.00
R4860:Klhl25	UTSW	7	75,867,050 (GRCm38)	missense	probably benign	0.03
R4860:Klhl25	UTSW	7	75,867,050 (GRCm38)	missense	probably benign	0.03
R5619:Klhl25	UTSW	7	75,866,854 (GRCm38)	missense	probably benign	0.22
R5637:Klhl25	UTSW	7	75,865,792 (GRCm38)	splice site	probably null
R5652:Klhl25	UTSW	7	75,866,147 (GRCm38)	missense	probably benign	0.06
R5840:Klhl25	UTSW	7	75,866,692 (GRCm38)	missense	possibly damaging	0.92
R6693:Klhl25	UTSW	7	75,866,813 (GRCm38)	missense	possibly damaging	0.91
R6723:Klhl25	UTSW	7	75,865,991 (GRCm38)	missense	possibly damaging	0.64
R7239:Klhl25	UTSW	7	75,866,768 (GRCm38)	missense	probably benign	0.25
R8535:Klhl25	UTSW	7	75,866,095 (GRCm38)	missense	probably benign
R8712:Klhl25	UTSW	7	75,865,672 (GRCm38)	missense	probably damaging	0.99
R8768:Klhl25	UTSW	7	75,866,611 (GRCm38)	missense	probably damaging	1.00
R8827:Klhl25	UTSW	7	75,866,643 (GRCm38)	missense	possibly damaging	0.70
R9033:Klhl25	UTSW	7	75,866,933 (GRCm38)	missense	probably damaging	0.98
R9046:Klhl25	UTSW	7	75,865,589 (GRCm38)	missense	probably damaging	1.00
R9404:Klhl25	UTSW	7	75,865,405 (GRCm38)	missense	probably benign	0.01
R9480:Klhl25	UTSW	7	75,866,372 (GRCm38)	missense	probably damaging	0.99
R9601:Klhl25	UTSW	7	75,866,009 (GRCm38)	missense	probably damaging	1.00
R9762:Klhl25	UTSW	7	75,866,993 (GRCm38)	missense	probably damaging	1.00
Z1177:Klhl25	UTSW	7	75,866,122 (GRCm38)	missense	possibly damaging	0.87

Predicted Primers

PCR Primer
(F):5'- ATCTTAGACGAGGCCTTCCG -3'
(R):5'- TACCTGCTAGGGATGTATGCC -3'

Sequencing Primer
(F):5'- GCTGCAAGACCAAGATCTTGCTG -3'
(R):5'- CCCACCACATAGAGACAGTTC -3'

Posted On

2018-10-18