Incidental Mutation 'R3085:Klf11'
ID 265603
Institutional Source Beutler Lab
Gene Symbol Klf11
Ensembl Gene ENSMUSG00000020653
Gene Name Kruppel-like transcription factor 11
Synonyms D12Ertd427e, Tieg3, Tieg2, Tieg2b
MMRRC Submission 040574-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3085 (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 24705490 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 315 (S315P)
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: S315P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000020982
Gene: ENSMUSG00000020653
AA Change: S315P

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 100% (63/63)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc12 T A 8: 87,270,536 (GRCm39) probably benign Het
Adrm1 T C 2: 179,816,094 (GRCm39) probably null Het
Aldh18a1 T C 19: 40,562,813 (GRCm39) I76V probably benign Het
Atp1b2 T C 11: 69,493,705 (GRCm39) K125E possibly damaging Het
Cabyr T C 18: 12,884,023 (GRCm39) V170A probably damaging Het
Cdh8 T C 8: 99,923,018 (GRCm39) T293A probably benign Het
Cenpc1 A T 5: 86,185,476 (GRCm39) V345D probably benign Het
Col4a3 A G 1: 82,628,979 (GRCm39) E131G unknown Het
Col4a4 C T 1: 82,507,285 (GRCm39) probably null Het
Creb3l1 G T 2: 91,825,789 (GRCm39) probably null Het
Dhx9 T C 1: 153,341,445 (GRCm39) D601G probably benign Het
Dipk1a G T 5: 108,062,290 (GRCm39) D28E probably damaging Het
Dnaaf4 T A 9: 72,879,688 (GRCm39) N289K probably benign Het
Eml6 T C 11: 29,759,332 (GRCm39) E807G probably damaging Het
Exog C A 9: 119,291,518 (GRCm39) T241K probably benign Het
Eya1 T C 1: 14,344,314 (GRCm39) D109G probably benign Het
Fat2 C T 11: 55,142,997 (GRCm39) R4284H possibly damaging Het
Fbxw13 C A 9: 109,013,299 (GRCm39) G130* probably null Het
Fcrl5 A G 3: 87,353,771 (GRCm39) Y372C probably damaging Het
Gli3 T C 13: 15,835,526 (GRCm39) S435P probably damaging Het
Gsg1l C T 7: 125,490,852 (GRCm39) R284H probably benign Het
Havcr1 C T 11: 46,647,052 (GRCm39) T162I probably damaging Het
Igdcc4 T C 9: 65,039,340 (GRCm39) F947S probably damaging Het
Irx1 G T 13: 72,111,411 (GRCm39) A66E probably damaging Het
Kynu A G 2: 43,492,312 (GRCm39) M190V probably benign Het
Lrp2 T C 2: 69,297,479 (GRCm39) T3161A probably benign Het
Macrod1 G T 19: 7,173,859 (GRCm39) A208S probably damaging Het
Mamdc2 G A 19: 23,288,296 (GRCm39) H581Y possibly damaging Het
Megf8 T A 7: 25,048,444 (GRCm39) Y1706N probably damaging Het
Mthfd1l G A 10: 4,040,007 (GRCm39) R806H probably benign Het
Nags T A 11: 102,036,810 (GRCm39) V133D probably damaging Het
Nrg3 C A 14: 38,092,906 (GRCm39) D560Y probably damaging Het
Or4f60 C A 2: 111,902,320 (GRCm39) G203* probably null Het
Or4k36 A G 2: 111,146,461 (GRCm39) I212M probably benign Het
Or4p23 A G 2: 88,576,488 (GRCm39) F248S probably damaging Het
Or5af2 T C 11: 58,708,553 (GRCm39) S240P probably damaging Het
Orc4 G A 2: 48,827,501 (GRCm39) P31S probably benign Het
Pde6d T C 1: 86,475,248 (GRCm39) probably null Het
Plekhf1 T C 7: 37,921,001 (GRCm39) E189G probably benign Het
Ppm1b A T 17: 85,321,288 (GRCm39) I477L probably benign Het
Rad51ap2 C A 12: 11,506,758 (GRCm39) Q227K possibly damaging Het
Rnf125 T C 18: 21,110,787 (GRCm39) V15A probably benign Het
Rnps1 C T 17: 24,631,393 (GRCm39) probably benign Het
Robo1 A G 16: 72,798,898 (GRCm39) I953V possibly damaging Het
Sash1 A T 10: 8,618,186 (GRCm39) probably null Het
Smarcc2 T C 10: 128,324,028 (GRCm39) probably benign Het
Stx12 T A 4: 132,584,672 (GRCm39) E224V probably damaging Het
Sun1 T C 5: 139,221,356 (GRCm39) V357A probably benign Het
Synpo2l T C 14: 20,712,248 (GRCm39) D350G probably damaging Het
Tex15 A T 8: 34,064,913 (GRCm39) N1448Y probably benign Het
Tfpi A G 2: 84,273,227 (GRCm39) probably benign Het
Tktl2 T A 8: 66,965,858 (GRCm39) M472K possibly damaging Het
Tmem40 T C 6: 115,718,576 (GRCm39) D43G possibly damaging Het
Tshz2 T A 2: 169,725,871 (GRCm39) C156S probably benign Het
Vmn2r101 T A 17: 19,809,077 (GRCm39) probably null Het
Vmn2r85 T C 10: 130,261,081 (GRCm39) M419V probably benign Het
Wdr73 G A 7: 80,550,990 (GRCm39) probably benign Het
Zc3hc1 C T 6: 30,374,763 (GRCm39) probably null Het
Zfhx3 T C 8: 109,682,664 (GRCm39) Y3368H unknown Het
Zfp263 G A 16: 3,567,580 (GRCm39) E632K probably damaging Het
Zfp266 A G 9: 20,412,240 (GRCm39) L111P probably damaging Het
Zfp626 T A 7: 27,517,587 (GRCm39) S189R probably benign Het
Zfp772 T C 7: 7,206,699 (GRCm39) R331G possibly damaging Het
Zkscan5 G A 5: 145,157,889 (GRCm39) C797Y 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
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
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'- TGTCAAGGAAAATCACCCCTCTG -3'
(R):5'- GCATCCTGGGAAGTTGCAAAC -3'

Sequencing Primer
(F):5'- AGGAAAATCACCCCTCTGATTTCTG -3'
(R):5'- AGTTCCTCCTTCGGGAAAAG -3'
Posted On 2015-02-05