Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02527:Klf11'

297124

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Klf11

Ensembl Gene

ENSMUSG00000020653

Gene Name

Kruppel-like transcription factor 11

Synonyms

D12Ertd427e, Tieg3, Tieg2, Tieg2b

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02527

Quality Score

Status

Chromosome

Chromosomal Location

24701370-24712781 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 24705322 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 259 (S259T)

Ref Sequence

ENSEMBL: ENSMUSP00000020982 (fasta)

Gene Model

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

AlphaFold

Q8K1S5

Predicted Effect

probably benign
Transcript: ENSMUST00000020982
AA Change: S259T

PolyPhen 2 Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000020982
Gene: ENSMUSG00000020653
AA Change: S259T

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	C	6: 121,638,392 (GRCm39)	V868A	probably damaging	Het
Adam25	T	A	8: 41,206,785 (GRCm39)	I17K	possibly damaging	Het
Arap2	A	T	5: 62,906,650 (GRCm39)	M123K	probably benign	Het
Asic3	A	G	5: 24,621,275 (GRCm39)	M332V	probably benign	Het
Atp2a3	C	A	11: 72,866,165 (GRCm39)	H262N	probably benign	Het
Cand1	A	T	10: 119,042,712 (GRCm39)	M1126K	probably damaging	Het
Capn3	A	G	2: 120,334,966 (GRCm39)	T818A	probably damaging	Het
Cda	G	A	4: 138,070,832 (GRCm39)	Q104*	probably null	Het
Cfhr4	T	C	1: 139,680,783 (GRCm39)	N245S	probably damaging	Het
Cpeb1	T	C	7: 81,009,635 (GRCm39)	D234G	probably damaging	Het
Cpq	A	G	15: 33,302,509 (GRCm39)	Y220C	probably damaging	Het
Diaph3	T	C	14: 87,047,795 (GRCm39)	K1026R	possibly damaging	Het
Dpep1	T	C	8: 123,925,487 (GRCm39)	F47L	probably damaging	Het
Dppa4	G	T	16: 48,109,456 (GRCm39)	R66L	possibly damaging	Het
Elac1	C	A	18: 73,880,304 (GRCm39)	E31*	probably null	Het
Fggy	A	G	4: 95,585,306 (GRCm39)	K62E	probably damaging	Het
Ficd	T	A	5: 113,875,027 (GRCm39)	M32K	probably benign	Het
Foxd4	A	G	19: 24,877,178 (GRCm39)	S341P	probably benign	Het
Gnb4	G	T	3: 32,644,015 (GRCm39)	T181K	probably benign	Het
Grin2b	T	A	6: 135,900,389 (GRCm39)	Y164F	probably damaging	Het
Hmmr	A	G	11: 40,598,932 (GRCm39)	L564P	probably damaging	Het
Hsd17b4	G	A	18: 50,293,231 (GRCm39)	V257I	probably benign	Het
Itga10	C	A	3: 96,562,940 (GRCm39)		probably benign	Het
Kcnk18	T	C	19: 59,223,707 (GRCm39)	V284A	probably damaging	Het
Kmt2d	C	T	15: 98,739,628 (GRCm39)		probably benign	Het
Manea	A	G	4: 26,336,619 (GRCm39)		probably null	Het
Mybl1	T	C	1: 9,760,373 (GRCm39)	H75R	probably damaging	Het
Neb	G	A	2: 52,153,959 (GRCm39)	T2384M	probably damaging	Het
Neb	A	G	2: 52,039,225 (GRCm39)	I6938T	probably benign	Het
Ntrk3	T	C	7: 78,101,697 (GRCm39)	D412G	probably benign	Het
Olah	T	C	2: 3,343,979 (GRCm39)	E211G	probably damaging	Het
Or10ag2	T	C	2: 87,249,181 (GRCm39)	L261S	probably damaging	Het
Paxbp1	A	T	16: 90,834,161 (GRCm39)	N208K	possibly damaging	Het
Prrc1	T	A	18: 57,522,419 (GRCm39)	M417K	probably benign	Het
Ptprq	G	A	10: 107,522,424 (GRCm39)	T543M	probably benign	Het
Rasal1	T	C	5: 120,804,469 (GRCm39)	V447A	probably damaging	Het
Rbl1	T	C	2: 157,035,968 (GRCm39)	E287G	probably benign	Het
Rusf1	T	A	7: 127,875,403 (GRCm39)	T317S	possibly damaging	Het
Tec	A	G	5: 72,936,758 (GRCm39)		probably null	Het
Tex26	A	G	5: 149,380,407 (GRCm39)	D61G	probably damaging	Het
Tgfb1i1	G	A	7: 127,851,734 (GRCm39)		probably benign	Het
Tmem132c	T	C	5: 127,436,675 (GRCm39)	Y55H	possibly damaging	Het
Tmem63a	T	A	1: 180,780,539 (GRCm39)		probably null	Het
Umod	C	T	7: 119,068,690 (GRCm39)	G452D	probably damaging	Het
Vcan	G	A	13: 89,838,776 (GRCm39)	T2256I	possibly damaging	Het
Vmn1r31	A	T	6: 58,449,778 (GRCm39)	I29K	probably benign	Het
Vmn2r117	A	G	17: 23,696,199 (GRCm39)	Y403H	possibly damaging	Het
Vmn2r124	A	T	17: 18,286,764 (GRCm39)		probably null	Het
Vmn2r65	T	A	7: 84,595,724 (GRCm39)	K320M	possibly damaging	Het

Other mutations in Klf11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01630:Klf11	APN	12	24,710,368 (GRCm39)	missense	probably benign	0.01
IGL02202:Klf11	APN	12	24,703,631 (GRCm39)	missense	probably benign	0.37
IGL02964:Klf11	APN	12	24,705,626 (GRCm39)	missense	probably damaging	1.00
R0254:Klf11	UTSW	12	24,703,582 (GRCm39)	missense	probably damaging	1.00
R0553:Klf11	UTSW	12	24,705,089 (GRCm39)	missense	probably benign	0.12
R0739:Klf11	UTSW	12	24,710,247 (GRCm39)	missense	probably damaging	1.00
R1584:Klf11	UTSW	12	24,705,304 (GRCm39)	missense	probably damaging	1.00
R1592:Klf11	UTSW	12	24,703,737 (GRCm39)	missense	probably damaging	1.00
R2356:Klf11	UTSW	12	24,703,582 (GRCm39)	missense	probably damaging	1.00
R3085:Klf11	UTSW	12	24,705,490 (GRCm39)	missense	probably benign
R4690:Klf11	UTSW	12	24,705,071 (GRCm39)	missense	probably damaging	0.97
R5023:Klf11	UTSW	12	24,705,358 (GRCm39)	missense	probably benign	0.00
R5483:Klf11	UTSW	12	24,705,410 (GRCm39)	nonsense	probably null
R5528:Klf11	UTSW	12	24,704,929 (GRCm39)	missense	probably benign	0.00
R6148:Klf11	UTSW	12	24,701,567 (GRCm39)	critical splice donor site	probably null
R6698:Klf11	UTSW	12	24,703,618 (GRCm39)	missense	probably damaging	1.00
R6799:Klf11	UTSW	12	24,705,638 (GRCm39)	missense	possibly damaging	0.59
R7317:Klf11	UTSW	12	24,705,518 (GRCm39)	missense	possibly damaging	0.59
R7384:Klf11	UTSW	12	24,703,742 (GRCm39)	missense	probably damaging	0.97
R7440:Klf11	UTSW	12	24,705,490 (GRCm39)	missense	probably benign
R7473:Klf11	UTSW	12	24,705,141 (GRCm39)	splice site	probably null
R7477:Klf11	UTSW	12	24,703,562 (GRCm39)	missense	probably benign	0.01
R7658:Klf11	UTSW	12	24,703,670 (GRCm39)	missense	probably damaging	1.00
R9378:Klf11	UTSW	12	24,705,043 (GRCm39)	missense	probably benign	0.01
R9479:Klf11	UTSW	12	24,705,029 (GRCm39)	missense	probably benign	0.10
R9663:Klf11	UTSW	12	24,705,731 (GRCm39)	missense	probably damaging	1.00
R9721:Klf11	UTSW	12	24,710,240 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16