Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02964:Klf11'

365467

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Klf11

Ensembl Gene

ENSMUSG00000020653

Gene Name

Kruppel-like factor 11

Synonyms

Tieg2b, D12Ertd427e, Tieg3, Tieg2

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02964

Quality Score

Status

Chromosome

Chromosomal Location

24651274-24662789 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 24655627 bp

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 360 (A360V)

Ref Sequence

ENSEMBL: ENSMUSP00000020982 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020982] [ENSMUST00000139940] [ENSMUST00000144046] [ENSMUST00000146894]

Predicted Effect

probably damaging
Transcript: ENSMUST00000020982
AA Change: A360V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000020982
Gene: ENSMUSG00000020653
AA Change: A360V

Domain	Start	End	E-Value	Type
low complexity region	267	275	N/A	INTRINSIC
low complexity region	356	367	N/A	INTRINSIC
ZnF_C2H2	384	408	5.9e-3	SMART
ZnF_C2H2	414	438	9.22e-5	SMART
ZnF_C2H2	444	466	1.38e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000139940

Predicted Effect

probably benign
Transcript: ENSMUST00000144046

Predicted Effect

probably benign
Transcript: ENSMUST00000146894

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a zinc finger transcription factor that binds to SP1-like sequences in epsilon- and gamma-globin gene promoters. This binding inhibits cell growth and causes apoptosis. Defects in this gene are a cause of maturity-onset diabetes of the young type 7 (MODY7). Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Apr 2010]
PHENOTYPE: Mice homozygous for a knock-out allele are viable and fertile, show normal hematopoiesis, growth and development, and display no evidence of increased tumor formation following gamma-irradiation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc3	T	C	11: 94,351,810	I1364V	possibly damaging	Het
Adamts19	T	A	18: 58,988,965	I813K	probably damaging	Het
Adamtsl1	G	T	4: 86,424,357	C1703F	probably damaging	Het
Atp2b4	T	A	1: 133,730,565	T536S	probably damaging	Het
Capg	T	A	6: 72,562,844	I340N	probably damaging	Het
Casc3	T	A	11: 98,828,923	M567K	probably damaging	Het
Chmp1a	T	C	8: 123,208,067	E50G	probably damaging	Het
Cryba1	T	C	11: 77,719,381		probably benign	Het
Dnah8	T	A	17: 30,746,761	Y2356N	probably damaging	Het
Ercc6	T	G	14: 32,570,103	S1141R	probably benign	Het
Exd2	T	A	12: 80,480,528	V165D	probably damaging	Het
Fbln1	A	T	15: 85,231,462	E233V	probably damaging	Het
Ftsj3	T	C	11: 106,252,337	K384E	probably damaging	Het
Ggt5	A	G	10: 75,604,128	I188V	probably benign	Het
Gm42742	A	T	7: 127,016,846	S26T	probably damaging	Het
Gucy1a2	T	A	9: 3,759,542	D449E	probably damaging	Het
Igfbp7	C	T	5: 77,351,341	S239N	possibly damaging	Het
Kmt2e	T	A	5: 23,467,100		probably benign	Het
Magea8	A	T	X: 154,986,682	C144S	probably damaging	Het
Med4	A	G	14: 73,517,921	Q223R	probably damaging	Het
Mmd2	G	T	5: 142,569,477	F153L	probably damaging	Het
Nav3	C	A	10: 109,736,953	R1615L	probably damaging	Het
Nisch	A	G	14: 31,180,812		probably benign	Het
Nr1i3	A	T	1: 171,214,395	Y16F	probably benign	Het
Olfr1134	C	A	2: 87,656,714	C69F	probably damaging	Het
Olfr828	A	G	9: 18,815,728	C189R	probably damaging	Het
Olfr860	G	A	9: 19,846,254	R122*	probably null	Het
Olfr954	A	G	9: 39,461,781	T117A	possibly damaging	Het
Ppil6	C	A	10: 41,507,483	H252N	probably benign	Het
Ppp6r2	C	T	15: 89,259,175	P175L	probably damaging	Het
Psme4	T	A	11: 30,791,095	Y90*	probably null	Het
Rbm20	C	A	19: 53,813,702	L214I	probably benign	Het
Rhox2f	T	C	X: 37,571,681	V24A	probably benign	Het
Scnm1	T	C	3: 95,133,037	K96E	probably benign	Het
Sec16a	A	C	2: 26,419,723	D2090E	probably benign	Het
Smg6	T	C	11: 74,930,750		probably null	Het
Snx2	T	C	18: 53,194,558	S119P	probably benign	Het
Stam	A	G	2: 14,115,968		probably benign	Het
Sult2b1	T	A	7: 45,735,274	E126V	probably benign	Het
Tor1aip1	T	C	1: 156,035,844	E131G	probably damaging	Het
Ttn	C	T	2: 76,788,696	C14367Y	probably damaging	Het
Ubr4	T	C	4: 139,407,820	F821S	possibly damaging	Het
Vmn1r32	T	C	6: 66,552,938	N285D	probably benign	Het
Vmn2r23	T	C	6: 123,741,782	L698P	possibly damaging	Het
Wnt8a	T	A	18: 34,542,421	L18Q	possibly damaging	Het
Zfp747	T	C	7: 127,374,494	E168G	probably benign	Het

Other mutations in Klf11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01630:Klf11	APN	12	24660369	missense	probably benign	0.01
IGL02202:Klf11	APN	12	24653632	missense	probably benign	0.37
IGL02527:Klf11	APN	12	24655323	missense	probably benign	0.31
R0254:Klf11	UTSW	12	24653583	missense	probably damaging	1.00
R0553:Klf11	UTSW	12	24655090	missense	probably benign	0.12
R0739:Klf11	UTSW	12	24660248	missense	probably damaging	1.00
R1584:Klf11	UTSW	12	24655305	missense	probably damaging	1.00
R1592:Klf11	UTSW	12	24653738	missense	probably damaging	1.00
R2356:Klf11	UTSW	12	24653583	missense	probably damaging	1.00
R3085:Klf11	UTSW	12	24655491	missense	probably benign
R4690:Klf11	UTSW	12	24655072	missense	probably damaging	0.97
R5023:Klf11	UTSW	12	24655359	missense	probably benign	0.00
R5483:Klf11	UTSW	12	24655411	nonsense	probably null
R5528:Klf11	UTSW	12	24654930	missense	probably benign	0.00
R6148:Klf11	UTSW	12	24651568	critical splice donor site	probably null
R6698:Klf11	UTSW	12	24653619	missense	probably damaging	1.00
R6799:Klf11	UTSW	12	24655639	missense	possibly damaging	0.59

Posted On

2015-12-18