Mutagenetix > Incidental Mutation

Incidental Mutation 'R1629:Klhl11'

172686

Institutional Source

Beutler Lab

Gene Symbol

Klhl11

Ensembl Gene

ENSMUSG00000048732

Gene Name

kelch-like 11

Synonyms

MMRRC Submission

039666-MU

Accession Numbers

Essential gene?

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

Stock #

R1629 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

100353440-100363567 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 100355012 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 270 (T270A)

Ref Sequence

ENSEMBL: ENSMUSP00000054963 (fasta)

Gene Model

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

AlphaFold

Q8CE33

Predicted Effect

probably benign
Transcript: ENSMUST00000056665
AA Change: T270A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000054963
Gene: ENSMUSG00000048732
AA Change: T270A

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

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts19	A	C	18: 59,087,691 (GRCm39)	I574L	probably damaging	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
BC005624	T	C	2: 30,864,020 (GRCm39)	E191G	probably damaging	Het
Cbx2	A	G	11: 118,919,806 (GRCm39)	D457G	probably damaging	Het
Ccdc110	A	G	8: 46,395,164 (GRCm39)	K352E	probably benign	Het
Cdk14	A	T	5: 5,153,807 (GRCm39)	H183Q	probably benign	Het
Cfap58	A	G	19: 47,929,778 (GRCm39)	T80A	probably benign	Het
Cftr	C	T	6: 18,226,105 (GRCm39)	T351I	probably damaging	Het
Col27a1	A	G	4: 63,248,100 (GRCm39)		probably benign	Het
Cp	T	A	3: 20,020,614 (GRCm39)		probably null	Het
Cpne8	A	T	15: 90,456,175 (GRCm39)	V196E	probably benign	Het
Dmxl1	T	G	18: 49,992,353 (GRCm39)		probably null	Het
Dnm2	T	A	9: 21,415,754 (GRCm39)	L642Q	probably damaging	Het
Dock2	G	T	11: 34,212,480 (GRCm39)		probably null	Het
Dock9	A	G	14: 121,780,986 (GRCm39)	F2091L	possibly damaging	Het
Eaf2	A	G	16: 36,645,063 (GRCm39)	V53A	probably damaging	Het
Fbl	G	T	7: 27,874,212 (GRCm39)		probably benign	Het
Fbn2	T	C	18: 58,159,610 (GRCm39)	D2373G	probably damaging	Het
Gbp2b	A	G	3: 142,316,735 (GRCm39)	Y462C	possibly damaging	Het
Il1rl2	T	A	1: 40,396,020 (GRCm39)	F348I	probably benign	Het
Khdc1a	T	A	1: 21,421,121 (GRCm39)	I102N	possibly damaging	Het
Lama1	T	C	17: 68,112,423 (GRCm39)	S2288P	probably benign	Het
Lrfn4	T	C	19: 4,663,523 (GRCm39)	E337G	possibly damaging	Het
Macf1	C	A	4: 123,402,208 (GRCm39)	E549*	probably null	Het
Mmp3	G	T	9: 7,447,641 (GRCm39)	V209F	probably benign	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Myh9	G	A	15: 77,648,601 (GRCm39)	R1725W	probably damaging	Het
Nbea	A	T	3: 55,910,312 (GRCm39)	D1294E	possibly damaging	Het
Nrcam	G	A	12: 44,610,769 (GRCm39)	A496T	probably benign	Het
Nufip2	A	G	11: 77,583,834 (GRCm39)	T583A	probably benign	Het
Or5m3b	A	G	2: 85,871,766 (GRCm39)	T36A	probably damaging	Het
Ppig	C	A	2: 69,566,217 (GRCm39)	T128K	probably damaging	Het
Ppp2r2a	A	T	14: 67,257,208 (GRCm39)	C341S	possibly damaging	Het
Ptpre	A	T	7: 135,271,528 (GRCm39)	D374V	probably damaging	Het
Ranbp3l	A	C	15: 9,065,068 (GRCm39)	Q485P	probably damaging	Het
Rapgef6	TG	TGG	11: 54,437,223 (GRCm39)		probably null	Het
Slc1a7	A	G	4: 107,865,340 (GRCm39)	Y276C	probably damaging	Het
Smarcad1	A	G	6: 65,044,091 (GRCm39)	D221G	probably benign	Het
Smn1	C	A	13: 100,264,404 (GRCm39)	T45N	probably damaging	Het
Son	T	C	16: 91,454,510 (GRCm39)	S1086P	probably damaging	Het
Ssmem1	T	A	6: 30,512,491 (GRCm39)	Y45N	possibly damaging	Het
Tasor2	T	C	13: 3,624,121 (GRCm39)	H1943R	possibly damaging	Het
Tmem184c	A	C	8: 78,329,551 (GRCm39)	F170V	possibly damaging	Het
Tmem184c	A	T	8: 78,332,791 (GRCm39)		probably null	Het
Vmn1r59	C	T	7: 5,457,466 (GRCm39)	C98Y	probably damaging	Het
Vmn2r23	T	A	6: 123,690,386 (GRCm39)	S421T	probably benign	Het
Vmn2r98	T	C	17: 19,287,645 (GRCm39)	S493P	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
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
R6874:Klhl11	UTSW	11	100,363,031 (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'- ATGGAGCCAGCAACATACACGTAG -3'
(R):5'- TAGCCCACATGTATACCCTGAGCC -3'

Sequencing Primer
(F):5'- TTTGTCCATAGCGAGGTAACAG -3'
(R):5'- AGCCAGCTTGCTCTGAAAG -3'

Posted On

2014-04-24