Incidental Mutation 'R5508:Klf14'
ID 431030
Institutional Source Beutler Lab
Gene Symbol Klf14
Ensembl Gene ENSMUSG00000073209
Gene Name Kruppel-like transcription factor 14
Synonyms BTEB5, 5330411L03Rik
MMRRC Submission 043069-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5508 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 30932956-30935925 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 30934977 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 219 (H219R)
Ref Sequence ENSEMBL: ENSMUSP00000099122 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000101589]
AlphaFold Q19A41
Predicted Effect probably damaging
Transcript: ENSMUST00000101589
AA Change: H219R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000099122
Gene: ENSMUSG00000073209
AA Change: H219R

DomainStartEndE-ValueType
low complexity region 33 51 N/A INTRINSIC
low complexity region 83 93 N/A INTRINSIC
ZnF_C2H2 195 219 1.64e-1 SMART
ZnF_C2H2 225 249 1.98e-4 SMART
ZnF_C2H2 255 277 1.12e-3 SMART
low complexity region 288 301 N/A INTRINSIC
low complexity region 306 316 N/A INTRINSIC
Coding Region Coverage
  • 1x: 98.4%
  • 3x: 97.4%
  • 10x: 95.7%
  • 20x: 92.5%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This intronless gene encodes a member of the Kruppel-like family of transcription factors. The encoded protein functions as a transcriptional co-repressor, and is induced by transforming growth factor-beta (TGF-beta) to repress TGF-beta receptor II gene expression. This gene exhibits imprinted expression from the maternal allele in embryonic and extra-embryonic tissues. [provided by RefSeq, Jul 2013]
PHENOTYPE: Mice homozygous for a null allele display genome instability and increased tumor incidence with age. Mice homozygous for a conditional allele knocked out in the liver exhibit decreased circulating HDL cholesterol levels. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ank3 G A 10: 69,838,395 (GRCm39) R1566K possibly damaging Het
Apc A G 18: 34,431,633 (GRCm39) D344G probably damaging Het
Asphd2 A T 5: 112,534,649 (GRCm39) F300I probably damaging Het
BC016579 T A 16: 45,453,369 (GRCm39) T149S possibly damaging Het
Bcl6b A T 11: 70,116,919 (GRCm39) H453Q probably damaging Het
Ccdc192 G A 18: 57,671,156 (GRCm39) probably null Het
Clec4b2 A G 6: 123,150,001 (GRCm39) probably benign Het
Crispld1 G T 1: 17,823,207 (GRCm39) C396F probably damaging Het
Dnase1l3 A G 14: 7,968,146 (GRCm38) V253A probably damaging Het
Efhd1 A G 1: 87,237,516 (GRCm39) *241W probably null Het
Flvcr1 C T 1: 190,757,656 (GRCm39) G212D probably damaging Het
Golga2 T A 2: 32,178,199 (GRCm39) L36* probably null Het
Gprc5c G T 11: 114,755,093 (GRCm39) V257L possibly damaging Het
Gtf3c2 G T 5: 31,331,805 (GRCm39) C4* probably null Het
Kit G T 5: 75,810,208 (GRCm39) C786F probably damaging Het
Large2 A G 2: 92,200,248 (GRCm39) V122A possibly damaging Het
Lct G A 1: 128,221,868 (GRCm39) A1557V probably damaging Het
Lrp6 T G 6: 134,441,479 (GRCm39) K1162N probably benign Het
Mtmr11 G A 3: 96,071,084 (GRCm39) R147Q probably damaging Het
Pbld2 T A 10: 62,902,444 (GRCm39) probably null Het
Pcdhb3 A T 18: 37,434,179 (GRCm39) L48F probably damaging Het
Pdcd2 C T 17: 15,742,001 (GRCm39) D310N probably damaging Het
Phlpp1 G T 1: 106,292,120 (GRCm39) R993L probably benign Het
Prr36 G A 8: 4,266,488 (GRCm39) P21S probably damaging Het
Ptprq C A 10: 107,522,092 (GRCm39) V620L probably benign Het
Ranbp2 T A 10: 58,315,827 (GRCm39) D2182E probably damaging Het
Sass6 G A 3: 116,413,752 (GRCm39) R485K probably benign Het
Scoc A T 8: 84,162,571 (GRCm39) S68T probably damaging Het
Speer3 T A 5: 13,844,678 (GRCm39) L114I probably damaging Het
Ss18l1 C G 2: 179,699,446 (GRCm39) Q215E probably damaging Het
Stab2 T C 10: 86,796,143 (GRCm39) N368S probably benign Het
Trim80 T A 11: 115,335,904 (GRCm39) S275R probably benign Het
Tubb5 T C 17: 36,145,962 (GRCm39) N416S probably benign Het
Ugt2a3 A T 5: 87,475,059 (GRCm39) M395K probably damaging Het
Vmn2r61 T A 7: 41,916,242 (GRCm39) M285K possibly damaging Het
Xpo1 A G 11: 23,244,645 (GRCm39) I1008V probably benign Het
Other mutations in Klf14
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4518:Klf14 UTSW 6 30,934,867 (GRCm39) missense possibly damaging 0.77
R4562:Klf14 UTSW 6 30,935,394 (GRCm39) missense probably damaging 1.00
R4771:Klf14 UTSW 6 30,934,960 (GRCm39) missense probably damaging 1.00
R5910:Klf14 UTSW 6 30,934,774 (GRCm39) missense probably benign 0.08
R7105:Klf14 UTSW 6 30,935,476 (GRCm39) frame shift probably null
R7595:Klf14 UTSW 6 30,935,475 (GRCm39) missense probably benign 0.26
R7610:Klf14 UTSW 6 30,935,005 (GRCm39) missense probably damaging 1.00
R8055:Klf14 UTSW 6 30,934,722 (GRCm39) missense probably benign 0.06
R8784:Klf14 UTSW 6 30,935,049 (GRCm39) missense probably damaging 1.00
R9137:Klf14 UTSW 6 30,934,855 (GRCm39) missense probably damaging 1.00
R9217:Klf14 UTSW 6 30,935,470 (GRCm39) missense probably benign 0.07
Predicted Primers PCR Primer
(F):5'- ATGGTAAGTTGGATGGCGAC -3'
(R):5'- TGATTCTGCTATCCTGGATGC -3'

Sequencing Primer
(F):5'- CGACGAGCATGCTTGGTC -3'
(R):5'- TATCCTGGATGCGCCTGAG -3'
Posted On 2016-10-05