Mutagenetix > Incidental Mutation

Incidental Mutation 'R0064:Klhl5'

34396

Institutional Source

Beutler Lab

Gene Symbol

Klhl5

Ensembl Gene

ENSMUSG00000054920

Gene Name

kelch-like 5

Synonyms

MMRRC Submission

038356-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.095) question?

Stock #

R0064 (G1)

Quality Score

127

Status

Validated

Chromosome

Chromosomal Location

65107539-65168188 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 65141288 bp (GRCm38)

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: 110,144,872	L641M	probably damaging	Het
Abca9	A	C	11: 110,144,871	L641R	probably damaging	Het
Abhd18	A	G	3: 40,933,853	I377M	probably benign	Het
Arhgef17	C	A	7: 100,881,354	M1408I	probably benign	Het
Bcl2a1a	G	C	9: 88,957,463	G138A	probably damaging	Het
C4b	A	G	17: 34,738,856	L617P	probably damaging	Het
Ccdc25	T	A	14: 65,854,112	I60K	possibly damaging	Het
Cdk1	T	C	10: 69,345,077	D101G	probably benign	Het
Cdon	A	G	9: 35,489,227	H1079R	probably benign	Het
Cep126	A	T	9: 8,130,182		probably benign	Het
Cic	C	A	7: 25,287,141	S1299Y	probably damaging	Het
Cic	T	A	7: 25,287,140	S1299T	probably damaging	Het
Clstn1	G	A	4: 149,634,796	V361M	probably damaging	Het
Crlf3	A	G	11: 80,057,902	I239T	possibly damaging	Het
Cstf2t	T	A	19: 31,083,299	N78K	probably damaging	Het
Cul1	A	G	6: 47,502,415		probably benign	Het
D430041D05Rik	T	G	2: 104,249,157	T1194P	probably damaging	Het
Fbp2	A	T	13: 62,854,048	F118I	probably damaging	Het
Fbxw14	A	T	9: 109,287,592	Y16*	probably null	Het
Fgd3	T	G	13: 49,296,425	D116A	possibly damaging	Het
Gm7168	C	T	17: 13,949,859	T496I	probably benign	Het
Hsh2d	G	A	8: 72,200,460	D229N	probably benign	Het
Knl1	T	A	2: 119,076,243	N1604K	probably benign	Het
Lpcat1	T	A	13: 73,514,466	N463K	probably damaging	Het
Lpl	A	G	8: 68,892,704	H120R	probably damaging	Het
Man1a2	A	T	3: 100,591,883	S412T	possibly damaging	Het
Mcc	C	G	18: 44,519,516		probably benign	Het
Myo18a	G	T	11: 77,847,344	R1704L	probably damaging	Het
Nlrc3	G	T	16: 3,964,087	T486K	possibly damaging	Het
Nrip1	T	A	16: 76,294,670		probably benign	Het
Nutf2	A	G	8: 105,878,809	D92G	probably damaging	Het
Obscn	A	C	11: 59,027,466	V6260G	probably damaging	Het
Olfr320	G	A	11: 58,684,475	V201M	probably benign	Het
Olfr714	T	C	7: 107,074,280	F151L	probably benign	Het
Plce1	T	C	19: 38,780,784		probably null	Het
Pmpca	C	A	2: 26,395,507	D498E	probably benign	Het
Pnpla7	G	T	2: 24,997,227	E28*	probably null	Het
Polg	C	A	7: 79,461,884	W206C	probably damaging	Het
Ptprt	C	T	2: 161,927,791		probably benign	Het
Slc7a14	T	C	3: 31,227,060	D367G	probably damaging	Het
Spata31	T	C	13: 64,922,098	Y687H	probably damaging	Het
Sybu	T	A	15: 44,672,993	T646S	probably benign	Het
Thbs1	A	T	2: 118,123,914		probably null	Het
Tie1	A	G	4: 118,489,701	V2A	possibly damaging	Het
Tma16	A	T	8: 66,476,805	I179K	possibly damaging	Het
Tns3	G	A	11: 8,435,856	Q1381*	probably null	Het
Trank1	A	G	9: 111,343,195	D84G	probably damaging	Het
Ttc3	A	T	16: 94,422,247	H197L	possibly damaging	Het
Urb1	A	G	16: 90,779,140	F843L	probably benign	Het
Vmn1r24	T	G	6: 57,956,018	I172L	probably benign	Het
Vmn2r1	T	A	3: 64,104,788	I690N	possibly damaging	Het
Vmn2r111	T	A	17: 22,572,072	I82L	probably benign	Het
Zfp287	A	T	11: 62,714,938	L370H	possibly damaging	Het
Zfp608	A	T	18: 54,898,816	I684N	probably benign	Het

Other mutations in Klhl5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02152:Klhl5	APN	5	65148800	missense	probably damaging	0.98
IGL02700:Klhl5	APN	5	65131430	nonsense	probably null
R0142:Klhl5	UTSW	5	65143350	nonsense	probably null
R0783:Klhl5	UTSW	5	65156253	splice site	probably benign
R0828:Klhl5	UTSW	5	65162792	missense	probably damaging	1.00
R1160:Klhl5	UTSW	5	65141340	missense	probably benign	0.13
R1181:Klhl5	UTSW	5	65162885	missense	probably damaging	0.99
R1611:Klhl5	UTSW	5	65164649	missense	probably benign	0.00
R1903:Klhl5	UTSW	5	65166987	missense	probably benign	0.37
R4880:Klhl5	UTSW	5	65158901	missense	probably damaging	1.00
R4961:Klhl5	UTSW	5	65152690	intron	probably benign
R5204:Klhl5	UTSW	5	65131438	missense	possibly damaging	0.95
R5389:Klhl5	UTSW	5	65141282	missense	possibly damaging	0.76
R5921:Klhl5	UTSW	5	65162956	missense	probably damaging	0.96
R6769:Klhl5	UTSW	5	65164652	missense	probably damaging	1.00
R6771:Klhl5	UTSW	5	65164652	missense	probably damaging	1.00
R7008:Klhl5	UTSW	5	65143249	missense	probably benign	0.02
R7214:Klhl5	UTSW	5	65131755	missense	probably benign
R7227:Klhl5	UTSW	5	65141288	missense	probably benign	0.00
R7239:Klhl5	UTSW	5	65161186	missense	probably damaging	1.00
R7400:Klhl5	UTSW	5	65148590	missense	possibly damaging	0.81
R7796:Klhl5	UTSW	5	65164622	missense	probably damaging	1.00
R8081:Klhl5	UTSW	5	65162925	missense	possibly damaging	0.94
R8108:Klhl5	UTSW	5	65148587	critical splice acceptor site	probably null
R8185:Klhl5	UTSW	5	65156128	missense	probably damaging	0.99
R8424:Klhl5	UTSW	5	65162962	missense	probably benign	0.10
R8691:Klhl5	UTSW	5	65149538	intron	probably benign
R8818:Klhl5	UTSW	5	65148646	missense	probably benign	0.23
R9233:Klhl5	UTSW	5	65143330	missense	possibly damaging	0.95
R9456:Klhl5	UTSW	5	65148596	missense	probably damaging	1.00
R9528:Klhl5	UTSW	5	65156243	critical splice donor site	probably null
R9688:Klhl5	UTSW	5	65164587	missense	probably damaging	1.00
R9744:Klhl5	UTSW	5	65162912	missense	probably damaging	1.00
X0009:Klhl5	UTSW	5	65162921	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