Mutagenetix > Incidental Mutation

Incidental Mutation 'R7008:Klhl5'

544820

Institutional Source

Beutler Lab

Gene Symbol

Klhl5

Ensembl Gene

ENSMUSG00000054920

Gene Name

kelch-like 5

Synonyms

1300013C10Rik

MMRRC Submission

045110-MU

Accession Numbers

Essential gene?

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

Stock #

R7008 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

65264894-65325490 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 65300592 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 52 (S52P)

Ref Sequence

ENSEMBL: ENSMUSP00000144976 (fasta)

Gene Model

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

AlphaFold

Q6PFE1

Predicted Effect

probably benign
Transcript: ENSMUST00000101191
AA Change: S192P

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000098752
Gene: ENSMUSG00000054920
AA Change: S192P

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 benign
Transcript: ENSMUST00000204097
AA Change: S52P

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000144976
Gene: ENSMUSG00000054920
AA Change: S52P

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: S131P

SMART Domains

Protein: ENSMUSP00000144732
Gene: ENSMUSG00000054920
AA Change: S131P

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: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd17	T	A	5: 90,407,955 (GRCm39)	I1421F	possibly damaging	Het
Arhgef11	C	A	3: 87,636,525 (GRCm39)	T992K	possibly damaging	Het
Arid1b	T	C	17: 5,341,254 (GRCm39)	Y853H	probably damaging	Het
Bcl10	G	T	3: 145,639,054 (GRCm39)	R232L	probably benign	Het
Best2	T	A	8: 85,739,840 (GRCm39)	I76F	possibly damaging	Het
Card11	G	C	5: 140,859,148 (GRCm39)	R1133G	probably damaging	Het
Card9	T	C	2: 26,247,811 (GRCm39)	D180G	possibly damaging	Het
Ccdc162	T	A	10: 41,428,411 (GRCm39)	E119V	probably damaging	Het
Ccdc168	T	C	1: 44,098,785 (GRCm39)	D771G	probably benign	Het
Cd2bp2	T	C	7: 126,794,567 (GRCm39)	D15G	possibly damaging	Het
Cdk7	A	C	13: 100,854,129 (GRCm39)	M120R	probably damaging	Het
Cryba4	T	A	5: 112,399,648 (GRCm39)	T2S	probably benign	Het
Cyp19a1	A	T	9: 54,100,609 (GRCm39)	M26K	probably benign	Het
Dgcr2	A	G	16: 17,662,865 (GRCm39)	S157P	probably damaging	Het
Dis3l	A	G	9: 64,217,735 (GRCm39)	F782S	possibly damaging	Het
Ephb4	T	A	5: 137,359,536 (GRCm39)	S369T	probably benign	Het
Fhad1	CGG	CG	4: 141,645,602 (GRCm39)		probably null	Het
H1f4	T	C	13: 23,806,192 (GRCm39)	K97E	probably damaging	Het
Igf2bp2	A	T	16: 21,900,582 (GRCm39)	D118E	probably benign	Het
Iqgap3	GGAGAG	GGAG	3: 88,020,078 (GRCm39)		probably null	Het
Lrrc28	A	T	7: 67,245,459 (GRCm39)		probably benign	Het
Map4k4	T	G	1: 40,028,131 (GRCm39)	D317E	probably benign	Het
Maz	A	T	7: 126,623,784 (GRCm39)	C66S	probably damaging	Het
Mbd4	T	C	6: 115,827,685 (GRCm39)	T43A	possibly damaging	Het
Milr1	T	A	11: 106,642,140 (GRCm39)	S11T	probably damaging	Het
Mthfd2l	T	A	5: 91,107,587 (GRCm39)	C150S	probably damaging	Het
Nemf	A	T	12: 69,388,395 (GRCm39)	N325K	possibly damaging	Het
Nemf	C	T	12: 69,400,567 (GRCm39)		probably null	Het
Nod2	T	A	8: 89,390,285 (GRCm39)	C197*	probably null	Het
Odf2l	A	G	3: 144,838,495 (GRCm39)	K241E	probably damaging	Het
Or4z4	G	A	19: 12,076,214 (GRCm39)	T263I	possibly damaging	Het
Or5b124	A	T	19: 13,610,985 (GRCm39)	N170I	probably damaging	Het
Osbpl10	T	G	9: 114,890,916 (GRCm39)	D101E	probably damaging	Het
Osgin1	T	C	8: 120,168,233 (GRCm39)	V20A	possibly damaging	Het
Pan3	T	A	5: 147,482,503 (GRCm39)	C438S	probably damaging	Het
Plaa	A	G	4: 94,457,586 (GRCm39)	*795Q	probably null	Het
Prss35	T	C	9: 86,638,361 (GRCm39)	V377A	probably benign	Het
Rab5c	G	A	11: 100,610,789 (GRCm39)	R40C	probably damaging	Het
Rasl12	G	A	9: 65,318,151 (GRCm39)	V172M	probably damaging	Het
Rdh16f1	A	G	10: 127,626,775 (GRCm39)	H276R	probably benign	Het
Runx2	G	A	17: 45,125,079 (GRCm39)	P80L	probably damaging	Het
Sez6l	T	C	5: 112,612,561 (GRCm39)	Y460C	probably damaging	Het
Sipa1l1	T	G	12: 82,409,886 (GRCm39)	M600R	probably damaging	Het
Slc11a2	T	C	15: 100,307,205 (GRCm39)	Y92C	probably damaging	Het
Slc4a10	A	G	2: 62,117,266 (GRCm39)	T712A	probably benign	Het
Sntb1	A	T	15: 55,655,468 (GRCm39)	Y249*	probably null	Het
Spatc1	A	G	15: 76,167,923 (GRCm39)	I127M	probably benign	Het
Sting1	C	A	18: 35,868,224 (GRCm39)	R292L	probably damaging	Het
Synj1	A	T	16: 90,790,833 (GRCm39)	N109K	probably damaging	Het
Tdg	T	A	10: 82,484,475 (GRCm39)	M396K	possibly damaging	Het
Tmem252	T	C	19: 24,651,656 (GRCm39)	V75A	probably damaging	Het
Trim40	T	C	17: 37,194,868 (GRCm39)	Q142R	probably damaging	Het
Trip6	T	C	5: 137,311,228 (GRCm39)	T163A	probably damaging	Het
Ttn	T	C	2: 76,724,986 (GRCm39)		probably benign	Het
Wdr95	T	C	5: 149,535,005 (GRCm39)	L721P	probably benign	Het
Zfp385c	A	T	11: 100,521,513 (GRCm39)	D182E	probably damaging	Het
Zfp597	A	G	16: 3,683,631 (GRCm39)	F375S	probably benign	Het
Zfp658	T	G	7: 43,223,336 (GRCm39)	F537C	possibly damaging	Het
Zgrf1	T	C	3: 127,355,421 (GRCm39)	F216L	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
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
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'- AGACCAGCAGACTGTTTCCAG -3'
(R):5'- ATCTGCCATCAAATTGCATGACAC -3'

Sequencing Primer
(F):5'- TAGTAATTGGTTATGCAAAGGAAGG -3'
(R):5'- TTGCATGACACAAACCTAAAGG -3'

Posted On

2019-05-13