Mutagenetix > Incidental Mutation

Incidental Mutation 'R0064:Klhl5'

34396

Institutional Source

Beutler Lab

Gene Symbol

Klhl5

Ensembl Gene

ENSMUSG00000054920

Gene Name

kelch-like 5

Synonyms

1300013C10Rik

MMRRC Submission

038356-MU

Accession Numbers

Essential gene?

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

Stock #

R0064 (G1)

Quality Score

127

Status

Validated

Chromosome

Chromosomal Location

65264894-65325490 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 65298631 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 137 (S137T)

Ref Sequence

ENSEMBL: ENSMUSP00000098752 (fasta)

Gene Model

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

AlphaFold

Q6PFE1

Predicted Effect

probably benign
Transcript: ENSMUST00000101191
AA Change: S137T

PolyPhen 2 Score 0.130 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000098752
Gene: ENSMUSG00000054920
AA Change: S137T

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

noncoding transcript
Transcript: ENSMUST00000157123

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203561

Predicted Effect

probably benign
Transcript: ENSMUST00000204097

SMART Domains

Protein: ENSMUSP00000144976
Gene: ENSMUSG00000054920

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

probably benign
Transcript: ENSMUST00000204348

SMART Domains

Protein: ENSMUSP00000144732
Gene: ENSMUSG00000054920

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

0.0600

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 95.0%

Validation Efficiency

100% (55/55)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	G	T	11: 110,035,698 (GRCm39)	L641M	probably damaging	Het
Abca9	A	C	11: 110,035,697 (GRCm39)	L641R	probably damaging	Het
Abhd18	A	G	3: 40,888,288 (GRCm39)	I377M	probably benign	Het
Arhgef17	C	A	7: 100,530,561 (GRCm39)	M1408I	probably benign	Het
Bcl2a1a	G	C	9: 88,839,516 (GRCm39)	G138A	probably damaging	Het
C4b	A	G	17: 34,957,830 (GRCm39)	L617P	probably damaging	Het
Ccdc25	T	A	14: 66,091,561 (GRCm39)	I60K	possibly damaging	Het
Cdk1	T	C	10: 69,180,907 (GRCm39)	D101G	probably benign	Het
Cdon	A	G	9: 35,400,523 (GRCm39)	H1079R	probably benign	Het
Cep126	A	T	9: 8,130,183 (GRCm39)		probably benign	Het
Cic	T	A	7: 24,986,565 (GRCm39)	S1299T	probably damaging	Het
Cic	C	A	7: 24,986,566 (GRCm39)	S1299Y	probably damaging	Het
Clstn1	G	A	4: 149,719,253 (GRCm39)	V361M	probably damaging	Het
Crlf3	A	G	11: 79,948,728 (GRCm39)	I239T	possibly damaging	Het
Cstf2t	T	A	19: 31,060,699 (GRCm39)	N78K	probably damaging	Het
Cul1	A	G	6: 47,479,349 (GRCm39)		probably benign	Het
D430041D05Rik	T	G	2: 104,079,502 (GRCm39)	T1194P	probably damaging	Het
Fbp2	A	T	13: 63,001,862 (GRCm39)	F118I	probably damaging	Het
Fbxw14	A	T	9: 109,116,660 (GRCm39)	Y16*	probably null	Het
Fgd3	T	G	13: 49,449,901 (GRCm39)	D116A	possibly damaging	Het
Gm7168	C	T	17: 14,170,121 (GRCm39)	T496I	probably benign	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Knl1	T	A	2: 118,906,724 (GRCm39)	N1604K	probably benign	Het
Lpcat1	T	A	13: 73,662,585 (GRCm39)	N463K	probably damaging	Het
Lpl	A	G	8: 69,345,356 (GRCm39)	H120R	probably damaging	Het
Man1a2	A	T	3: 100,499,199 (GRCm39)	S412T	possibly damaging	Het
Mcc	C	G	18: 44,652,583 (GRCm39)		probably benign	Het
Myo18a	G	T	11: 77,738,170 (GRCm39)	R1704L	probably damaging	Het
Nlrc3	G	T	16: 3,781,951 (GRCm39)	T486K	possibly damaging	Het
Nrip1	T	A	16: 76,091,558 (GRCm39)		probably benign	Het
Nutf2	A	G	8: 106,605,441 (GRCm39)	D92G	probably damaging	Het
Obscn	A	C	11: 58,918,292 (GRCm39)	V6260G	probably damaging	Het
Or10a2	T	C	7: 106,673,487 (GRCm39)	F151L	probably benign	Het
Or2ak7	G	A	11: 58,575,301 (GRCm39)	V201M	probably benign	Het
Plce1	T	C	19: 38,769,228 (GRCm39)		probably null	Het
Pmpca	C	A	2: 26,285,519 (GRCm39)	D498E	probably benign	Het
Pnpla7	G	T	2: 24,887,239 (GRCm39)	E28*	probably null	Het
Polg	C	A	7: 79,111,632 (GRCm39)	W206C	probably damaging	Het
Ptprt	C	T	2: 161,769,711 (GRCm39)		probably benign	Het
Slc7a14	T	C	3: 31,281,209 (GRCm39)	D367G	probably damaging	Het
Spata31	T	C	13: 65,069,912 (GRCm39)	Y687H	probably damaging	Het
Sybu	T	A	15: 44,536,389 (GRCm39)	T646S	probably benign	Het
Thbs1	A	T	2: 117,954,395 (GRCm39)		probably null	Het
Tie1	A	G	4: 118,346,898 (GRCm39)	V2A	possibly damaging	Het
Tma16	A	T	8: 66,929,457 (GRCm39)	I179K	possibly damaging	Het
Tns3	G	A	11: 8,385,856 (GRCm39)	Q1381*	probably null	Het
Trank1	A	G	9: 111,172,263 (GRCm39)	D84G	probably damaging	Het
Ttc3	A	T	16: 94,223,106 (GRCm39)	H197L	possibly damaging	Het
Urb1	A	G	16: 90,576,028 (GRCm39)	F843L	probably benign	Het
Vmn1r24	T	G	6: 57,933,003 (GRCm39)	I172L	probably benign	Het
Vmn2r1	T	A	3: 64,012,209 (GRCm39)	I690N	possibly damaging	Het
Vmn2r111	T	A	17: 22,791,053 (GRCm39)	I82L	probably benign	Het
Zfp287	A	T	11: 62,605,764 (GRCm39)	L370H	possibly damaging	Het
Zfp608	A	T	18: 55,031,888 (GRCm39)	I684N	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
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
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'- GCACCTTCACTCATGTGCTTACGAG -3'
(R):5'- GACATTCTGAGAGGCAGATCACCG -3'

Sequencing Primer
(F):5'- tgcctgcaaccccagac -3'
(R):5'- CCACACAGGTAACGGGTGAC -3'

Posted On

2013-05-09