Incidental Mutation 'IGL02964:Klf11'
ID365467
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Klf11
Ensembl Gene ENSMUSG00000020653
Gene NameKruppel-like factor 11
SynonymsTieg2b, D12Ertd427e, Tieg3, Tieg2
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02964
Quality Score
Status
Chromosome12
Chromosomal Location24651274-24662789 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 24655627 bp
ZygosityHeterozygous
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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 On2015-12-18