Mutagenetix > Incidental Mutation

Incidental Mutation 'R7239:Klhl5'

563062

Institutional Source

Beutler Lab

Gene Symbol

Klhl5

Ensembl Gene

ENSMUSG00000054920

Gene Name

kelch-like 5

Synonyms

1300013C10Rik

MMRRC Submission

045346-MU

Accession Numbers

Essential gene?

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

Stock #

R7239 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

65264894-65325490 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 65318529 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 556 (V556A)

Ref Sequence

ENSEMBL: ENSMUSP00000098752 (fasta)

Gene Model

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

AlphaFold

Q6PFE1

Predicted Effect

probably damaging
Transcript: ENSMUST00000101191
AA Change: V556A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000098752
Gene: ENSMUSG00000054920
AA Change: V556A

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

probably damaging
Transcript: ENSMUST00000203538
AA Change: V181A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000145269
Gene: ENSMUSG00000054920
AA Change: V181A

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

probably damaging
Transcript: ENSMUST00000204097
AA Change: V416A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000144976
Gene: ENSMUSG00000054920
AA Change: V416A

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: V495A

SMART Domains

Protein: ENSMUSP00000144732
Gene: ENSMUSG00000054920
AA Change: V495A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

99% (76/77)

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510009E07Rik	A	G	16: 21,472,268 (GRCm39)	V144A	probably damaging	Het
Abca5	A	T	11: 110,217,530 (GRCm39)	Y109N	possibly damaging	Het
Abcb5	T	C	12: 118,892,460 (GRCm39)	Q433R	probably benign	Het
Adamts7	G	A	9: 90,068,610 (GRCm39)		probably null	Het
Adgrv1	T	C	13: 81,624,731 (GRCm39)	D3746G	possibly damaging	Het
Arhgap29	C	T	3: 121,782,599 (GRCm39)	S159L	probably benign	Het
Arhgap5	T	A	12: 52,564,159 (GRCm39)	C377S	probably benign	Het
Atp1a3	G	A	7: 24,700,129 (GRCm39)	P77L	probably damaging	Het
B4galt1	T	C	4: 40,812,754 (GRCm39)	D257G	probably damaging	Het
Bin1	T	A	18: 32,539,224 (GRCm39)	N52K	probably damaging	Het
Catsperg2	A	G	7: 29,409,507 (GRCm39)	M562T	probably benign	Het
Ccdc33	G	A	9: 57,940,192 (GRCm39)	Q713*	probably null	Het
Cd96	A	T	16: 45,929,477 (GRCm39)	L156Q	probably damaging	Het
Clpb	A	G	7: 101,360,662 (GRCm39)	T231A	probably damaging	Het
Dnaaf9	C	A	2: 130,648,708 (GRCm39)	R258L	unknown	Het
Dnmt3a	A	T	12: 3,922,850 (GRCm39)	Q151L	probably benign	Het
Dock2	C	T	11: 34,181,677 (GRCm39)	V1629M	probably benign	Het
Edem1	G	A	6: 108,831,341 (GRCm39)	D601N	probably benign	Het
Eno2	C	T	6: 124,745,228 (GRCm39)	V20M	probably damaging	Het
Eny2	A	C	15: 44,297,250 (GRCm39)	D52A	probably benign	Het
Esp36	T	C	17: 38,728,132 (GRCm39)	R93G	possibly damaging	Het
Fam227a	A	G	15: 79,518,263 (GRCm39)		probably null	Het
Fat4	C	A	3: 39,037,989 (GRCm39)	H3880Q	possibly damaging	Het
Fbxw24	A	T	9: 109,434,598 (GRCm39)	V334E	possibly damaging	Het
Flrt1	T	C	19: 7,073,329 (GRCm39)	Q406R	probably benign	Het
Frmpd2	A	G	14: 33,274,034 (GRCm39)	N1092S	probably benign	Het
Gm904	C	A	13: 50,799,287 (GRCm39)	T82K	probably benign	Het
Gnas	G	C	2: 174,140,408 (GRCm39)	G252R	unknown	Het
Gpatch2l	A	G	12: 86,307,349 (GRCm39)		probably null	Het
H2ac6	A	T	13: 23,867,593 (GRCm39)	I103N	probably damaging	Het
Ift74	T	C	4: 94,541,187 (GRCm39)	V204A	probably benign	Het
Ikzf4	A	G	10: 128,477,113 (GRCm39)	L119P	probably damaging	Het
Ing3	G	A	6: 21,952,193 (GRCm39)	E56K	probably damaging	Het
Klhl25	T	C	7: 75,516,516 (GRCm39)	I474T	probably benign	Het
Krt14	A	T	11: 100,095,081 (GRCm39)	M382K	probably benign	Het
Lmcd1	T	C	6: 112,292,745 (GRCm39)	V199A	possibly damaging	Het
Lpcat4	T	A	2: 112,073,052 (GRCm39)	F200I	possibly damaging	Het
Lrp1b	T	C	2: 40,894,725 (GRCm39)	T2282A		Het
Lrrk1	T	C	7: 65,911,903 (GRCm39)	T1886A	probably benign	Het
Meis2	T	C	2: 115,889,484 (GRCm39)		probably null	Het
Mki67	C	T	7: 135,301,905 (GRCm39)	R1043K	possibly damaging	Het
Myct1	G	T	10: 5,554,601 (GRCm39)	R156L	possibly damaging	Het
Nckap5l	G	T	15: 99,324,090 (GRCm39)	H804Q	probably damaging	Het
Ndst3	T	G	3: 123,400,555 (GRCm39)	E450D	probably damaging	Het
Nipbl	A	T	15: 8,321,619 (GRCm39)		probably null	Het
Npy	A	G	6: 49,800,587 (GRCm39)	N4D	probably benign	Het
Or7g35	A	T	9: 19,496,487 (GRCm39)	Y218F	probably damaging	Het
Osgin2	T	C	4: 16,008,748 (GRCm39)	S18G	probably benign	Het
Pcdha9	T	G	18: 37,131,551 (GRCm39)	F207V	probably benign	Het
Pcdhb13	A	T	18: 37,577,697 (GRCm39)	I692F	probably damaging	Het
Pde3b	T	A	7: 114,015,384 (GRCm39)	V200E	probably damaging	Het
Ppp6r3	A	T	19: 3,543,981 (GRCm39)	L345I	probably benign	Het
Psd2	G	A	18: 36,113,472 (GRCm39)	A315T	probably damaging	Het
Rnf111	G	A	9: 70,376,655 (GRCm39)	T328I	probably damaging	Het
Rnf213	T	C	11: 119,349,614 (GRCm39)	L3825P		Het
Rtl1	C	T	12: 109,558,909 (GRCm39)	V977I	probably benign	Het
Scn1a	G	A	2: 66,108,000 (GRCm39)		probably null	Het
Slc25a2	G	T	18: 37,770,748 (GRCm39)	N260K	probably benign	Het
Sprtn	T	C	8: 125,626,983 (GRCm39)	V121A	probably damaging	Het
Ssx2ip	T	G	3: 146,133,771 (GRCm39)	L260W	probably damaging	Het
Syde1	G	A	10: 78,424,615 (GRCm39)	R406C	probably damaging	Het
Tab1	A	G	15: 80,017,372 (GRCm39)	R6G	probably benign	Het
Tenm4	G	A	7: 96,202,703 (GRCm39)	R106H	probably benign	Het
Tenm4	G	A	7: 96,385,020 (GRCm39)	V526I	possibly damaging	Het
Tfap2b	T	C	1: 19,304,404 (GRCm39)	F405L	probably damaging	Het
Trbv13-1	C	A	6: 41,093,325 (GRCm39)	T87K	probably benign	Het
Trmt44	G	T	5: 35,732,130 (GRCm39)	A87E	probably benign	Het
Ttll3	CAAAGTAA	CAAAGTAAAGTAA	6: 113,376,118 (GRCm39)		probably null	Het
Ttn	T	C	2: 76,617,634 (GRCm39)	D16279G	probably damaging	Het
Ttn	G	A	2: 76,711,672 (GRCm39)	R8290C	unknown	Het
Ugt2b37	T	A	5: 87,402,590 (GRCm39)	I14L	probably benign	Het
Vmn1r13	A	T	6: 57,187,611 (GRCm39)	M257L	probably benign	Het
Vmn1r184	C	T	7: 25,966,602 (GRCm39)	P116L	possibly damaging	Het
Zfp426	T	C	9: 20,381,887 (GRCm39)	T367A	probably benign	Het
Zfp647	A	T	15: 76,795,956 (GRCm39)	C235S	probably damaging	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
R4880:Klhl5	UTSW	5	65,316,244 (GRCm39)	missense	probably damaging	1.00
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
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'- TGCGTGTTTCAGACTTACTGTAC -3'
(R):5'- TGGAAGGTATTTAAACCACTGTTGC -3'

Sequencing Primer
(F):5'- AGACTTACTGTACTCCCATTCTGAC -3'
(R):5'- GGTATTTAAACCACTGTTGCTGTTC -3'

Posted On

2019-06-26