Mutagenetix > Incidental Mutation

Incidental Mutation 'R6874:Klhl11'

536326

Institutional Source

Beutler Lab

Gene Symbol

Klhl11

Ensembl Gene

ENSMUSG00000048732

Gene Name

kelch-like 11

Synonyms

MMRRC Submission

045029-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.317) question?

Stock #

R6874 (G1)

Quality Score

221.009

Status

Not validated

Chromosome

Chromosomal Location

100353440-100363567 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 100363031 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 175 (H175R)

Ref Sequence

ENSEMBL: ENSMUSP00000054963 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000007131] [ENSMUST00000056665] [ENSMUST00000107389] [ENSMUST00000165111]

AlphaFold

Q8CE33

Predicted Effect

probably benign
Transcript: ENSMUST00000007131

SMART Domains

Protein: ENSMUSP00000007131
Gene: ENSMUSG00000020917

Domain	Start	End	E-Value	Type
Pfam:ATP-grasp_2	6	207	2.4e-8	PFAM
low complexity region	441	457	N/A	INTRINSIC
low complexity region	465	475	N/A	INTRINSIC
Pfam:CoA_binding	484	590	3.9e-14	PFAM
Pfam:Ligase_CoA	650	775	1.2e-16	PFAM
Pfam:Citrate_synt	868	1076	4.8e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000056665
AA Change: H175R

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000054963
Gene: ENSMUSG00000048732
AA Change: H175R

Domain	Start	End	E-Value	Type
low complexity region	2	16	N/A	INTRINSIC
BTB	95	201	2.69e-21	SMART
BACK	206	308	9.54e-26	SMART
Kelch	361	408	4.1e0	SMART
Kelch	409	454	2.61e-1	SMART
Kelch	455	502	2.17e-1	SMART
Kelch	611	662	1.39e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000107389

SMART Domains

Protein: ENSMUSP00000103012
Gene: ENSMUSG00000020917

Domain	Start	End	E-Value	Type
Pfam:Citrate_bind	244	421	1.7e-94	PFAM
low complexity region	441	457	N/A	INTRINSIC
low complexity region	465	475	N/A	INTRINSIC
Pfam:CoA_binding	494	600	6.6e-15	PFAM
Pfam:Ligase_CoA	660	785	2.1e-16	PFAM
Pfam:Citrate_synt	879	1085	2e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000165111

SMART Domains

Protein: ENSMUSP00000127632
Gene: ENSMUSG00000020917

Domain	Start	End	E-Value	Type
Pfam:ATP-grasp_2	6	207	2.4e-8	PFAM
low complexity region	441	457	N/A	INTRINSIC
low complexity region	465	475	N/A	INTRINSIC
Pfam:CoA_binding	484	590	3.9e-14	PFAM
Pfam:Ligase_CoA	650	775	1.2e-16	PFAM
Pfam:Citrate_synt	868	1076	4.8e-22	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	G	7: 119,851,428 (GRCm39)	D802G	possibly damaging	Het
Acsl5	A	G	19: 55,280,295 (GRCm39)	T523A	probably damaging	Het
Adamts7	A	T	9: 90,070,784 (GRCm39)	D635V	probably damaging	Het
Akr1c12	C	A	13: 4,322,959 (GRCm39)	G217C	probably benign	Het
Astn1	C	A	1: 158,491,644 (GRCm39)	S1007*	probably null	Het
Cntln	T	C	4: 84,985,996 (GRCm39)	L988P	probably damaging	Het
Dcps	A	T	9: 35,087,263 (GRCm39)	M1K	probably null	Het
Dnai1	T	A	4: 41,632,412 (GRCm39)	L582Q	probably damaging	Het
Dst	A	T	1: 34,328,732 (GRCm39)	Q7118L	probably benign	Het
Ehd2	T	A	7: 15,684,363 (GRCm39)	T479S	probably benign	Het
Fbxl7	T	C	15: 26,553,028 (GRCm39)	I80V	probably benign	Het
Fry	T	C	5: 150,360,768 (GRCm39)	V125A	probably benign	Het
Gm12695	A	T	4: 96,673,306 (GRCm39)	I31K	probably benign	Het
Gm5591	T	C	7: 38,219,715 (GRCm39)	E386G	probably damaging	Het
Helz	G	T	11: 107,554,460 (GRCm39)	R1219S	probably damaging	Het
Hes3	G	T	4: 152,371,695 (GRCm39)	P85T	possibly damaging	Het
Igkv3-2	A	T	6: 70,675,822 (GRCm39)	R44*	probably null	Het
Igsf9	A	G	1: 172,322,096 (GRCm39)	T496A	probably benign	Het
Irf2bp1	G	T	7: 18,739,142 (GRCm39)	A261S	possibly damaging	Het
Jph2	G	A	2: 163,181,407 (GRCm39)	P586S	probably benign	Het
Ksr2	G	T	5: 117,894,401 (GRCm39)	E847*	probably null	Het
Lats1	T	A	10: 7,586,615 (GRCm39)	Y926N	probably damaging	Het
Lmbr1	A	T	5: 29,497,904 (GRCm39)	L33H	probably damaging	Het
Lrp10	T	C	14: 54,705,670 (GRCm39)	S287P	possibly damaging	Het
Map3k6	G	A	4: 132,977,967 (GRCm39)	E976K	probably benign	Het
Mfsd6	T	A	1: 52,699,868 (GRCm39)	D760V	probably benign	Het
Muc16	G	T	9: 18,570,065 (GRCm39)	S818*	probably null	Het
Muc5ac	C	T	7: 141,363,481 (GRCm39)		probably benign	Het
Nagpa	T	C	16: 5,013,921 (GRCm39)	T306A	probably benign	Het
Nisch	G	T	14: 30,898,641 (GRCm39)		probably benign	Het
Nrxn3	T	C	12: 90,298,964 (GRCm39)	V1028A	probably damaging	Het
Nucb1	T	C	7: 45,152,618 (GRCm39)	N75S	probably benign	Het
Or11a4	T	C	17: 37,536,238 (GRCm39)	V74A	probably benign	Het
Or1e1d-ps1	T	G	11: 73,819,068 (GRCm39)	M6R	probably null	Het
Or51a43	T	A	7: 103,717,396 (GRCm39)	I281F	possibly damaging	Het
Or5h23	T	A	16: 58,906,312 (GRCm39)	Y178F	probably benign	Het
Or7g19	T	A	9: 18,856,777 (GRCm39)	Y278N	possibly damaging	Het
Or8b57	A	G	9: 40,004,022 (GRCm39)	V80A	probably benign	Het
Or8k24	C	T	2: 86,215,872 (GRCm39)	V297I	possibly damaging	Het
Pik3c2a	A	G	7: 115,993,540 (GRCm39)	L409S	probably damaging	Het
Pkhd1l1	T	A	15: 44,452,923 (GRCm39)	D3949E	probably benign	Het
Prune2	C	A	19: 17,100,592 (GRCm39)	P2032Q	probably damaging	Het
Ptms	T	C	6: 124,891,194 (GRCm39)		probably benign	Het
Ptp4a3	A	G	15: 73,595,259 (GRCm39)		probably benign	Het
Ptprq	T	C	10: 107,554,460 (GRCm39)	I88M	possibly damaging	Het
Radil	T	A	5: 142,492,557 (GRCm39)	D357V	probably damaging	Het
Runx2	G	A	17: 45,125,079 (GRCm39)	P80L	probably damaging	Het
Supt20	A	G	3: 54,635,175 (GRCm39)		probably null	Het
Thoc5	T	C	11: 4,851,261 (GRCm39)	I69T	probably damaging	Het
Trib2	G	C	12: 15,865,338 (GRCm39)	S79W	probably damaging	Het
Trpc6	A	G	9: 8,680,439 (GRCm39)	D889G	probably damaging	Het
Usf3	T	C	16: 44,040,103 (GRCm39)	S1528P	probably benign	Het
Vax1	A	T	19: 59,156,955 (GRCm39)	V126E	unknown	Het
Vgf	A	G	5: 137,060,386 (GRCm39)		probably benign	Het
Vmn2r1	T	A	3: 64,012,376 (GRCm39)	C746S	probably damaging	Het
Vmn2r77	A	G	7: 86,451,286 (GRCm39)	T391A	probably benign	Het
Zfp738	C	A	13: 67,818,382 (GRCm39)	E536D	possibly damaging	Het

Other mutations in Klhl11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00966:Klhl11	APN	11	100,354,031 (GRCm39)	missense	possibly damaging	0.94
IGL02334:Klhl11	APN	11	100,354,662 (GRCm39)	missense	probably damaging	1.00
IGL02886:Klhl11	APN	11	100,363,047 (GRCm39)	missense	possibly damaging	0.92
R0372:Klhl11	UTSW	11	100,354,348 (GRCm39)	missense	probably damaging	0.97
R0583:Klhl11	UTSW	11	100,355,150 (GRCm39)	missense	possibly damaging	0.57
R0608:Klhl11	UTSW	11	100,363,068 (GRCm39)	missense	probably damaging	1.00
R0609:Klhl11	UTSW	11	100,354,540 (GRCm39)	missense	probably damaging	1.00
R1417:Klhl11	UTSW	11	100,363,115 (GRCm39)	missense	probably benign	0.00
R1629:Klhl11	UTSW	11	100,355,012 (GRCm39)	missense	probably benign	0.00
R1643:Klhl11	UTSW	11	100,353,841 (GRCm39)	missense	probably benign	0.09
R1985:Klhl11	UTSW	11	100,354,070 (GRCm39)	missense	probably benign	0.00
R3844:Klhl11	UTSW	11	100,363,133 (GRCm39)	missense	possibly damaging	0.84
R4746:Klhl11	UTSW	11	100,355,176 (GRCm39)	missense	probably benign	0.00
R5053:Klhl11	UTSW	11	100,363,026 (GRCm39)	missense	probably damaging	1.00
R5426:Klhl11	UTSW	11	100,354,942 (GRCm39)	missense	probably damaging	1.00
R5731:Klhl11	UTSW	11	100,354,589 (GRCm39)	missense	probably damaging	1.00
R5755:Klhl11	UTSW	11	100,355,177 (GRCm39)	missense	probably benign	0.00
R7295:Klhl11	UTSW	11	100,363,068 (GRCm39)	missense	probably damaging	1.00
R7426:Klhl11	UTSW	11	100,355,178 (GRCm39)	missense	probably benign	0.17
R7554:Klhl11	UTSW	11	100,354,774 (GRCm39)	missense	probably benign
R7960:Klhl11	UTSW	11	100,354,805 (GRCm39)	missense	probably benign
R8125:Klhl11	UTSW	11	100,354,811 (GRCm39)	missense	probably benign
R8145:Klhl11	UTSW	11	100,354,740 (GRCm39)	missense	probably damaging	0.99
R8192:Klhl11	UTSW	11	100,354,922 (GRCm39)	missense	probably benign	0.29
R8202:Klhl11	UTSW	11	100,354,150 (GRCm39)	missense	probably benign	0.04
R9649:Klhl11	UTSW	11	100,363,506 (GRCm39)	missense	probably benign	0.18
Z1177:Klhl11	UTSW	11	100,354,792 (GRCm39)	missense	probably benign	0.31

Predicted Primers

PCR Primer
(F):5'- TGCGCACAAGCTAGACTCTC -3'
(R):5'- TTCTGCGACATCACCCTGTG -3'

Sequencing Primer
(F):5'- CACAAGCTAGACTCTCAGGGG -3'
(R):5'- GACATCACCCTGTGCTTCGG -3'

Posted On

2018-10-18