Incidental Mutation 'R0739:Klf11'
ID 70634
Institutional Source Beutler Lab
Gene Symbol Klf11
Ensembl Gene ENSMUSG00000020653
Gene Name Kruppel-like transcription factor 11
Synonyms D12Ertd427e, Tieg3, Tieg2, Tieg2b
MMRRC Submission 038920-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0739 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 24701370-24712781 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 24710247 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 432 (S432P)
Ref Sequence ENSEMBL: ENSMUSP00000020982 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020982]
AlphaFold Q8K1S5
Predicted Effect probably damaging
Transcript: ENSMUST00000020982
AA Change: S432P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000020982
Gene: ENSMUSG00000020653
AA Change: S432P

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
Meta Mutation Damage Score 0.5685 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.4%
  • 20x: 95.0%
Validation Efficiency 98% (48/49)
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl6 A G 11: 54,227,961 (GRCm39) E327G probably damaging Het
Adcy6 T C 15: 98,496,260 (GRCm39) D593G probably benign Het
Ankmy1 T C 1: 92,816,370 (GRCm39) D248G probably damaging Het
Atp2a1 T C 7: 126,047,428 (GRCm39) I743V possibly damaging Het
Axdnd1 T C 1: 156,208,456 (GRCm39) N396D possibly damaging Het
Cacna1e C T 1: 154,318,024 (GRCm39) A1391T probably damaging Het
Ccr8 G A 9: 119,923,415 (GRCm39) G177S probably damaging Het
Clmn C T 12: 104,747,276 (GRCm39) G757D possibly damaging Het
Cntn2 T A 1: 132,456,750 (GRCm39) I99F probably damaging Het
D6Ertd527e C G 6: 87,088,650 (GRCm39) A271G unknown Het
Dnah1 A T 14: 30,987,872 (GRCm39) C3515* probably null Het
Eif2d A G 1: 131,082,100 (GRCm39) Y64C probably damaging Het
Elovl4 A G 9: 83,667,162 (GRCm39) F65S probably damaging Het
F5 G C 1: 164,026,486 (GRCm39) R1686P probably damaging Het
Fbn1 T C 2: 125,209,550 (GRCm39) E938G probably benign Het
Foxn1 T C 11: 78,249,825 (GRCm39) T567A probably benign Het
Gabrr1 T C 4: 33,162,781 (GRCm39) M449T probably benign Het
Gdf2 C T 14: 33,663,178 (GRCm39) P24L probably damaging Het
Itgb3bp T C 4: 99,690,433 (GRCm39) I29V probably benign Het
Kcnk7 C T 19: 5,754,830 (GRCm39) probably null Het
Neo1 C T 9: 58,829,160 (GRCm39) A580T probably benign Het
Nexmif G T X: 103,128,555 (GRCm39) Q1121K probably benign Het
Or51aa5 T C 7: 103,166,931 (GRCm39) Y220C probably damaging Het
Or51f5 T C 7: 102,423,872 (GRCm39) I47T probably damaging Het
Or5p62 T C 7: 107,771,217 (GRCm39) T245A probably benign Het
Osgepl1 G T 1: 53,362,354 (GRCm39) E399* probably null Het
Parvg T A 15: 84,215,222 (GRCm39) V197E probably damaging Het
Pcyt2 A G 11: 120,502,870 (GRCm39) L257P probably damaging Het
Pou3f2 T C 4: 22,486,960 (GRCm39) D391G possibly damaging Het
Psmd2 C T 16: 20,474,079 (GRCm39) R261C probably benign Het
Ptpn13 T C 5: 103,722,998 (GRCm39) F1981L probably benign Het
Rbp3 A T 14: 33,680,604 (GRCm39) I1069F probably benign Het
Rhbdf2 A T 11: 116,490,987 (GRCm39) L655Q probably damaging Het
Sec16a A T 2: 26,331,063 (GRCm39) N317K possibly damaging Het
Serpina3f T C 12: 104,184,612 (GRCm39) V252A probably damaging Het
Slc22a23 C T 13: 34,528,366 (GRCm39) G139S possibly damaging Het
Smyd2 T C 1: 189,621,059 (GRCm39) T220A possibly damaging Het
Snrpb2 T A 2: 142,907,281 (GRCm39) probably benign Het
Spopfm1 A G 3: 94,173,102 (GRCm39) M37V probably benign Het
Sptan1 A T 2: 29,903,530 (GRCm39) I1502F probably damaging Het
Srprb A T 9: 103,074,794 (GRCm39) L116H probably damaging Het
Stradb T A 1: 59,016,174 (GRCm39) probably benign Het
Tm9sf4 C A 2: 153,045,734 (GRCm39) F535L probably damaging Het
Tmprss15 A T 16: 78,821,736 (GRCm39) S440T possibly damaging Het
Tpr C T 1: 150,283,248 (GRCm39) A293V possibly damaging Het
Usp34 C T 11: 23,417,243 (GRCm39) T2964I possibly damaging Het
Usp35 C A 7: 96,960,874 (GRCm39) E851* probably null Het
Zc3h14 T A 12: 98,723,460 (GRCm39) V250D probably damaging Het
Zfp568 T A 7: 29,722,746 (GRCm39) C564S probably damaging Het
Other mutations in Klf11
AlleleSourceChrCoordTypePredicted EffectPPH 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
IGL02527:Klf11 APN 12 24,705,322 (GRCm39) missense probably benign 0.31
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
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
Predicted Primers PCR Primer
(F):5'- TGGGCTGTACTAAGCAAGACCCTAC -3'
(R):5'- AGTGATTCTGTTCAGCTTGCCCAC -3'

Sequencing Primer
(F):5'- gtcagggctacacagtgag -3'
(R):5'- AGCTTGCCCACCTCTGC -3'
Posted On 2013-09-30