Mutagenetix > Incidental Mutation

Incidental Mutation 'R4880:Klhl5'

375206

Institutional Source

Beutler Lab

Gene Symbol

Klhl5

Ensembl Gene

ENSMUSG00000054920

Gene Name

kelch-like 5

Synonyms

1300013C10Rik

MMRRC Submission

042489-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.107) question?

Stock #

R4880 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

65264894-65325490 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 65316244 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 97 (V97A)

Ref Sequence

ENSEMBL: ENSMUSP00000145269 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000101191] [ENSMUST00000203538] [ENSMUST00000204097] [ENSMUST00000204348]

AlphaFold

Q6PFE1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000101191
AA Change: V472A

PolyPhen 2 Score 0.738 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000098752
Gene: ENSMUSG00000054920
AA Change: V472A

Domain	Start	End	E-Value	Type
low complexity region	114	137	N/A	INTRINSIC
BTB	173	270	1.5e-28	SMART
BACK	275	376	7.85e-36	SMART
Kelch	421	467	1.12e-11	SMART
Kelch	468	514	3.2e-16	SMART
Kelch	515	561	1.51e-12	SMART
Kelch	562	608	4.6e-17	SMART
Kelch	609	661	2.84e-8	SMART
Kelch	662	708	1.83e-11	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000126692
AA Change: V97A

PolyPhen 2 Score 0.738 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000142858
Gene: ENSMUSG00000054920
AA Change: V97A

Domain	Start	End	E-Value	Type
Kelch	46	92	3.6e-14	SMART
Kelch	93	139	1.1e-18	SMART
Kelch	140	186	4.9e-15	SMART
Kelch	187	233	1.5e-19	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000203538
AA Change: V97A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000145269
Gene: ENSMUSG00000054920
AA Change: V97A

Domain	Start	End	E-Value	Type
Kelch	46	92	3.7e-14	SMART
Kelch	93	139	1.1e-18	SMART
Kelch	140	186	5.1e-15	SMART
Kelch	187	233	1.5e-19	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000204097
AA Change: V332A

PolyPhen 2 Score 0.753 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000144976
Gene: ENSMUSG00000054920
AA Change: V332A

Domain	Start	End	E-Value	Type
BTB	33	130	1.5e-28	SMART
BACK	135	236	7.85e-36	SMART
Kelch	281	327	1.12e-11	SMART
Kelch	328	374	3.2e-16	SMART
Kelch	375	421	1.51e-12	SMART
Kelch	422	468	4.6e-17	SMART
Kelch	469	521	2.84e-8	SMART
Kelch	522	568	1.83e-11	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000204348
AA Change: V411A

SMART Domains

Protein: ENSMUSP00000144732
Gene: ENSMUSG00000054920
AA Change: V411A

Domain	Start	End	E-Value	Type
BTB	111	209	1.32e-15	SMART
BACK	214	315	7.85e-36	SMART
Kelch	360	406	1.12e-11	SMART
Kelch	407	453	3.2e-16	SMART
Kelch	454	500	1.51e-12	SMART
Kelch	501	547	4.6e-17	SMART
Kelch	548	600	2.84e-8	SMART
Kelch	601	647	1.83e-11	SMART

Meta Mutation Damage Score

0.3302

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.5%

Validation Efficiency

98% (89/91)

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	T	C	7: 41,276,529 (GRCm39)	I744T	possibly damaging	Het
Adgrb1	T	A	15: 74,458,871 (GRCm39)	F1324L	possibly damaging	Het
Adm	A	G	7: 110,228,326 (GRCm39)	H230R	probably benign	Het
Ank2	A	T	3: 126,840,475 (GRCm39)		probably null	Het
Arih1	A	T	9: 59,344,168 (GRCm39)	F156L	possibly damaging	Het
Atf6b	A	G	17: 34,873,529 (GRCm39)	H660R	probably damaging	Het
Bcl9l	C	A	9: 44,420,007 (GRCm39)	Q1101K	probably benign	Het
Ccdc174	G	A	6: 91,876,572 (GRCm39)		probably benign	Het
Ccdc65	A	C	15: 98,620,538 (GRCm39)		probably null	Het
Cela2a	T	C	4: 141,549,598 (GRCm39)	N59S	probably benign	Het
Cfap157	A	T	2: 32,668,261 (GRCm39)	V393E	probably damaging	Het
Chd1	T	C	17: 17,594,916 (GRCm39)	F17S	probably damaging	Het
Cpne3	T	C	4: 19,540,827 (GRCm39)	I183V	probably benign	Het
Cyp2d11	C	A	15: 82,276,306 (GRCm39)	V122L	probably benign	Het
Dcaf8	C	A	1: 172,015,056 (GRCm39)		probably benign	Het
Dchs1	T	A	7: 105,404,937 (GRCm39)	D2535V	probably benign	Het
Eif4a2	G	T	16: 22,927,650 (GRCm39)		probably benign	Het
Fzd4	T	A	7: 89,057,109 (GRCm39)	D385E	probably benign	Het
Galnt13	C	A	2: 54,950,584 (GRCm39)	Q422K	probably damaging	Het
Gnptab	C	T	10: 88,268,413 (GRCm39)	Q507*	probably null	Het
Hoxa7	A	G	6: 52,194,014 (GRCm39)		probably benign	Het
Htra1	T	A	7: 130,563,813 (GRCm39)	V228D	probably damaging	Het
Idi2l	A	T	13: 8,990,702 (GRCm39)		probably null	Het
Ifi203	T	A	1: 173,756,716 (GRCm39)		probably benign	Het
Iqca1l	T	C	5: 24,754,750 (GRCm39)	D340G	probably benign	Het
Irs1	TGGGGTGGACATCGAACTGAAGGAG	TG	1: 82,265,453 (GRCm39)	913	probably null	Het
Itga2b	G	T	11: 102,348,548 (GRCm39)		probably benign	Het
Itgb1	G	T	8: 129,442,631 (GRCm39)	R272L	probably damaging	Het
Kif9	A	G	9: 110,330,703 (GRCm39)	E343G	probably damaging	Het
Lama5	C	A	2: 179,818,861 (GRCm39)		probably benign	Het
Lamb2	A	G	9: 108,361,226 (GRCm39)		probably null	Het
Lrp1b	T	A	2: 41,660,931 (GRCm39)	Y59F	probably benign	Het
Mmrn1	A	G	6: 60,953,423 (GRCm39)	E568G	probably benign	Het
Mreg	A	G	1: 72,201,495 (GRCm39)	Y166H	probably damaging	Het
Myh7	C	A	14: 55,216,045 (GRCm39)	V1323F	probably benign	Het
Nr1i3	T	A	1: 171,043,951 (GRCm39)	I91K	probably damaging	Het
Nsfl1c	T	A	2: 151,348,230 (GRCm39)	D206E	probably damaging	Het
Or11g24	T	C	14: 50,662,758 (GRCm39)	Y261H	possibly damaging	Het
Or13c3	A	T	4: 52,856,411 (GRCm39)	M34K	probably damaging	Het
Or2ak5	G	A	11: 58,611,107 (GRCm39)	L256F	probably benign	Het
Or4k44	A	T	2: 111,367,698 (GRCm39)	L312*	probably null	Het
Or5k17	A	C	16: 58,746,463 (GRCm39)	L157W	probably damaging	Het
Or8b54	T	A	9: 38,686,843 (GRCm39)	C97*	probably null	Het
Pcdhb7	C	T	18: 37,475,284 (GRCm39)	T140I	probably benign	Het
Pcdhgb5	T	G	18: 37,865,641 (GRCm39)	S479A	probably benign	Het
Pcsk5	T	A	19: 17,425,054 (GRCm39)	Y1583F	probably damaging	Het
Pias1	T	C	9: 62,820,080 (GRCm39)	R296G	probably benign	Het
Plscr1l1	A	G	9: 92,236,665 (GRCm39)	E108G	probably damaging	Het
Polr1e	T	A	4: 45,022,280 (GRCm39)	C100S	probably damaging	Het
Rpap1	C	A	2: 119,614,346 (GRCm39)	R17L	probably damaging	Het
Rtn1	C	T	12: 72,264,232 (GRCm39)	V192I	possibly damaging	Het
Ryr2	G	A	13: 11,767,104 (GRCm39)	P1262L	probably damaging	Het
Slc4a7	G	T	14: 14,757,342 (GRCm38)	D396Y	probably damaging	Het
Slc5a8	T	C	10: 88,727,886 (GRCm39)	Y118H	probably damaging	Het
Slc7a6os	T	A	8: 106,937,247 (GRCm39)	Q71L	probably benign	Het
Sphkap	A	G	1: 83,266,538 (GRCm39)	V127A	probably damaging	Het
Srpk1	A	G	17: 28,810,199 (GRCm39)	S580P	probably damaging	Het
Syne2	A	G	12: 76,026,593 (GRCm39)	I3474V	probably damaging	Het
Tchh	A	G	3: 93,351,130 (GRCm39)	D190G	possibly damaging	Het
Tenm4	T	A	7: 96,555,025 (GRCm39)		probably null	Het
Tex14	T	A	11: 87,377,121 (GRCm39)	I155N	possibly damaging	Het
Tm7sf3	A	T	6: 146,511,358 (GRCm39)	V377E	possibly damaging	Het
Tnfsf9	T	A	17: 57,412,433 (GRCm39)	M1K	probably null	Het
Tns2	C	T	15: 102,020,474 (GRCm39)	T780I	probably damaging	Het
Trdn	T	A	10: 33,347,575 (GRCm39)	D639E	probably benign	Het
Trmt10a	A	G	3: 137,857,972 (GRCm39)	E173G	possibly damaging	Het
Ttn	G	A	2: 76,649,119 (GRCm39)	P10984S	possibly damaging	Het
Tubb6	C	T	18: 67,534,386 (GRCm39)	T95M	possibly damaging	Het
Uroc1	G	T	6: 90,334,519 (GRCm39)	R577L	probably damaging	Het
Vmn2r86	T	A	10: 130,289,484 (GRCm39)	D137V	probably benign	Het
Xkr7	T	C	2: 152,896,873 (GRCm39)	Y576H	probably damaging	Het
Zfp410	A	G	12: 84,384,449 (GRCm39)	N355D	probably damaging	Het
Zfp59	C	A	7: 27,543,742 (GRCm39)	D22E	probably damaging	Het
Zfp64	C	T	2: 168,736,297 (GRCm39)	R460H	probably damaging	Het
Zfp655	T	C	5: 145,181,168 (GRCm39)	V342A	probably damaging	Het
Zfp990	G	A	4: 145,264,490 (GRCm39)	G496E	probably benign	Het

Other mutations in Klhl5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02152:Klhl5	APN	5	65,306,143 (GRCm39)	missense	probably damaging	0.98
IGL02700:Klhl5	APN	5	65,288,773 (GRCm39)	nonsense	probably null
R0064:Klhl5	UTSW	5	65,298,631 (GRCm39)	missense	probably benign	0.13
R0142:Klhl5	UTSW	5	65,300,693 (GRCm39)	nonsense	probably null
R0783:Klhl5	UTSW	5	65,313,596 (GRCm39)	splice site	probably benign
R0828:Klhl5	UTSW	5	65,320,135 (GRCm39)	missense	probably damaging	1.00
R1160:Klhl5	UTSW	5	65,298,683 (GRCm39)	missense	probably benign	0.13
R1181:Klhl5	UTSW	5	65,320,228 (GRCm39)	missense	probably damaging	0.99
R1611:Klhl5	UTSW	5	65,321,992 (GRCm39)	missense	probably benign	0.00
R1903:Klhl5	UTSW	5	65,324,330 (GRCm39)	missense	probably benign	0.37
R4961:Klhl5	UTSW	5	65,310,033 (GRCm39)	intron	probably benign
R5204:Klhl5	UTSW	5	65,288,781 (GRCm39)	missense	possibly damaging	0.95
R5389:Klhl5	UTSW	5	65,298,625 (GRCm39)	missense	possibly damaging	0.76
R5921:Klhl5	UTSW	5	65,320,299 (GRCm39)	missense	probably damaging	0.96
R6769:Klhl5	UTSW	5	65,321,995 (GRCm39)	missense	probably damaging	1.00
R6771:Klhl5	UTSW	5	65,321,995 (GRCm39)	missense	probably damaging	1.00
R7008:Klhl5	UTSW	5	65,300,592 (GRCm39)	missense	probably benign	0.02
R7214:Klhl5	UTSW	5	65,289,098 (GRCm39)	missense	probably benign
R7227:Klhl5	UTSW	5	65,298,631 (GRCm39)	missense	probably benign	0.00
R7239:Klhl5	UTSW	5	65,318,529 (GRCm39)	missense	probably damaging	1.00
R7400:Klhl5	UTSW	5	65,305,933 (GRCm39)	missense	possibly damaging	0.81
R7796:Klhl5	UTSW	5	65,321,965 (GRCm39)	missense	probably damaging	1.00
R8081:Klhl5	UTSW	5	65,320,268 (GRCm39)	missense	possibly damaging	0.94
R8108:Klhl5	UTSW	5	65,305,930 (GRCm39)	critical splice acceptor site	probably null
R8185:Klhl5	UTSW	5	65,313,471 (GRCm39)	missense	probably damaging	0.99
R8424:Klhl5	UTSW	5	65,320,305 (GRCm39)	missense	probably benign	0.10
R8691:Klhl5	UTSW	5	65,306,881 (GRCm39)	intron	probably benign
R8818:Klhl5	UTSW	5	65,305,989 (GRCm39)	missense	probably benign	0.23
R9233:Klhl5	UTSW	5	65,300,673 (GRCm39)	missense	possibly damaging	0.95
R9456:Klhl5	UTSW	5	65,305,939 (GRCm39)	missense	probably damaging	1.00
R9528:Klhl5	UTSW	5	65,313,586 (GRCm39)	critical splice donor site	probably null
R9688:Klhl5	UTSW	5	65,321,930 (GRCm39)	missense	probably damaging	1.00
R9744:Klhl5	UTSW	5	65,320,255 (GRCm39)	missense	probably damaging	1.00
X0009:Klhl5	UTSW	5	65,320,264 (GRCm39)	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- TTCTGTGTCTGTAACATAGCCG -3'
(R):5'- TGGGAACTGATGCTGACTGAG -3'

Sequencing Primer
(F):5'- CTGTAACATAGCCGGGGTGGATC -3'
(R):5'- GCTGACTGAGCCCACAC -3'

Posted On

2016-03-17