Mutagenetix > Incidental Mutation

Incidental Mutation 'R4961:Klhl5'

381754

Institutional Source

Beutler Lab

Gene Symbol

Klhl5

Ensembl Gene

ENSMUSG00000054920

Gene Name

kelch-like 5

Synonyms

1300013C10Rik

MMRRC Submission

042558-MU

Accession Numbers

Essential gene?

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

Stock #

R4961 (G1)

Quality Score

119

Status

Validated

Chromosome

Chromosomal Location

65264894-65325490 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to C at 65310033 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000144732 (fasta)

Gene Model

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

AlphaFold

Q6PFE1

Predicted Effect

probably benign
Transcript: ENSMUST00000101191

SMART Domains

Protein: ENSMUSP00000098752
Gene: ENSMUSG00000054920

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

unknown
Transcript: ENSMUST00000125950
AA Change: S297P

SMART Domains

Protein: ENSMUSP00000121731
Gene: ENSMUSG00000054920
AA Change: S297P

Domain	Start	End	E-Value	Type
low complexity region	22	45	N/A	INTRINSIC
BTB	81	178	1.5e-28	SMART
BACK	183	285	2.37e-30	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000203538

SMART Domains

Protein: ENSMUSP00000145269
Gene: ENSMUSG00000054920

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

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

0.0898

Coding Region Coverage

1x: 98.9%
3x: 98.1%
10x: 95.3%
20x: 88.3%

Validation Efficiency

95% (62/65)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110082I17Rik	T	C	5: 139,349,855 (GRCm39)	K65E	probably damaging	Het
Acp5	C	A	9: 22,041,233 (GRCm39)	A65S	probably benign	Het
Adad2	G	A	8: 120,342,397 (GRCm39)	R345H	probably damaging	Het
Adamts7	G	T	9: 90,067,793 (GRCm39)	G428W	probably damaging	Het
Amy1	A	G	3: 113,355,498 (GRCm39)	S326P	probably damaging	Het
Ankrd44	C	T	1: 54,703,071 (GRCm39)	D482N	probably damaging	Het
Anks6	C	T	4: 47,030,795 (GRCm39)	G601S	probably damaging	Het
Ano8	G	C	8: 71,935,640 (GRCm39)	P326R	probably damaging	Het
Arhgef26	A	G	3: 62,367,046 (GRCm39)	E793G	probably damaging	Het
Cd9	A	T	6: 125,440,703 (GRCm39)	V96E	probably damaging	Het
Cdh9	A	G	15: 16,850,914 (GRCm39)	N561S	probably benign	Het
Col16a1	G	A	4: 129,948,272 (GRCm39)		probably null	Het
Cpne7	G	A	8: 123,860,498 (GRCm39)	G484R	probably damaging	Het
Dcun1d4	A	T	5: 73,701,463 (GRCm39)	K194*	probably null	Het
Dock3	A	G	9: 106,818,515 (GRCm39)	V1193A	probably damaging	Het
Dst	A	G	1: 34,007,904 (GRCm39)	R113G	possibly damaging	Het
Epha5	A	T	5: 84,381,502 (GRCm39)	S450T	probably damaging	Het
Gm5581	A	T	6: 131,144,190 (GRCm39)		noncoding transcript	Het
Grhl3	A	G	4: 135,279,918 (GRCm39)	Y379H	probably damaging	Het
Herpud1	T	C	8: 95,117,454 (GRCm39)	S13P	probably benign	Het
Jam2	C	T	16: 84,606,435 (GRCm39)	Q150*	probably null	Het
Jph2	C	G	2: 163,217,668 (GRCm39)	R336P	probably damaging	Het
Kansl3	T	A	1: 36,387,764 (GRCm39)		probably null	Het
Kctd1	G	A	18: 15,195,580 (GRCm39)	P348S	probably damaging	Het
Klhl30	T	A	1: 91,285,106 (GRCm39)	S321T	possibly damaging	Het
Letm2	T	C	8: 26,084,108 (GRCm39)	H41R	possibly damaging	Het
Ltn1	A	T	16: 87,194,679 (GRCm39)	C1407S	probably benign	Het
Map1b	T	C	13: 99,572,161 (GRCm39)	T187A	probably damaging	Het
Marveld2	T	C	13: 100,748,431 (GRCm39)	N216S	probably benign	Het
Matn1	A	G	4: 130,680,234 (GRCm39)	Y437C	probably damaging	Het
Oas1h	T	C	5: 121,009,159 (GRCm39)	Y290H	probably damaging	Het
Ofcc1	A	G	13: 40,417,035 (GRCm39)		probably null	Het
Or2m12	C	A	16: 19,104,726 (GRCm39)	G256W	probably damaging	Het
Or4k51	A	T	2: 111,584,750 (GRCm39)	D52V	probably damaging	Het
Or8g34	A	G	9: 39,373,183 (GRCm39)	Y152C	probably damaging	Het
Otof	C	A	5: 30,540,837 (GRCm39)		probably benign	Het
Pcdh15	G	T	10: 74,215,249 (GRCm39)		probably null	Het
Pgk2	G	A	17: 40,518,412 (GRCm39)	P339S	probably damaging	Het
Piezo2	T	C	18: 63,186,032 (GRCm39)		probably null	Het
Prex2	A	G	1: 11,168,705 (GRCm39)	T234A	possibly damaging	Het
Rasgrf1	C	T	9: 89,826,922 (GRCm39)	T177M	probably benign	Het
Rgs1	A	T	1: 144,124,309 (GRCm39)		probably null	Het
Snx25	T	C	8: 46,521,229 (GRCm39)	N239S	probably damaging	Het
Spata31d1a	T	A	13: 59,849,716 (GRCm39)	H804L	possibly damaging	Het
Spon2	A	T	5: 33,371,896 (GRCm39)	Y303*	probably null	Het
Spopfm2	A	T	3: 94,082,841 (GRCm39)	C323*	probably null	Het
Thrb	G	A	14: 18,011,076 (GRCm38)	D151N	probably benign	Het
Tns1	A	G	1: 73,975,074 (GRCm39)	V1170A	probably benign	Het
Trbv19	A	T	6: 41,155,706 (GRCm39)	I26F	probably damaging	Het
Tstd2	T	C	4: 46,120,467 (GRCm39)	N311S	probably damaging	Het
Ttn	T	A	2: 76,715,746 (GRCm39)		probably benign	Het
Ugt1a1	CAGAGAGAGAGAGA	CAGAGAGAGAGA	1: 88,139,706 (GRCm39)		probably benign	Het
Vmn1r185	G	A	7: 26,310,716 (GRCm39)	A263V	probably benign	Het
Zfp316	T	C	5: 143,239,169 (GRCm39)	H950R	probably damaging	Het
Zfp51	A	G	17: 21,676,615 (GRCm39)	K29E	probably benign	Het
Zfp644	T	C	5: 106,766,081 (GRCm39)		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
R4880:Klhl5	UTSW	5	65,316,244 (GRCm39)	missense	probably damaging	1.00
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'- TGCTACCCAAGTGATCTTCTTACAC -3'
(R):5'- ATTACCCAGTGTCTTTGGAAAGTC -3'

Sequencing Primer
(F):5'- CATGTGTGGATCTGTCgt -3'
(R):5'- GCTGGTAAAATGCCTGCTAC -3'

Posted On

2016-04-27