Incidental Mutation 'R8055:Klf14'
ID 619312
Institutional Source Beutler Lab
Gene Symbol Klf14
Ensembl Gene ENSMUSG00000073209
Gene Name Kruppel-like transcription factor 14
Synonyms BTEB5, 5330411L03Rik
MMRRC Submission 067492-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8055 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 30932956-30935925 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 30934722 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 304 (V304A)
Ref Sequence ENSEMBL: ENSMUSP00000099122 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000101589]
AlphaFold Q19A41
Predicted Effect probably benign
Transcript: ENSMUST00000101589
AA Change: V304A

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000099122
Gene: ENSMUSG00000073209
AA Change: V304A

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adrm1b C A 3: 92,336,139 (GRCm39) G188W unknown Het
Ahcyl1 A T 3: 107,576,047 (GRCm39) D353E probably benign Het
Alk G T 17: 72,206,252 (GRCm39) P1033T probably benign Het
Asb15 G T 6: 24,556,565 (GRCm39) C20F probably benign Het
BC049715 A G 6: 136,816,913 (GRCm39) N51S possibly damaging Het
Ccser1 G A 6: 61,290,757 (GRCm39) V480M possibly damaging Het
Cep295 T C 9: 15,244,905 (GRCm39) N1184D probably benign Het
Cers6 C T 2: 68,777,625 (GRCm39) R111W probably damaging Het
Clybl T A 14: 122,615,273 (GRCm39) D204E probably damaging Het
Cxcl13 T C 5: 96,107,763 (GRCm39) V73A probably benign Het
Dchs2 A G 3: 83,037,032 (GRCm39) N593S probably benign Het
Esco2 A T 14: 66,069,168 (GRCm39) N47K probably benign Het
Fan1 T A 7: 64,022,234 (GRCm39) N340Y probably damaging Het
Fmo4 T C 1: 162,636,015 (GRCm39) T46A probably benign Het
Gm15217 T C 14: 46,616,911 (GRCm39) probably benign Het
Gnb5 G T 9: 75,250,826 (GRCm39) A317S probably benign Het
Klrc2 A T 6: 129,633,424 (GRCm39) C209* probably null Het
Kmt2a A T 9: 44,732,378 (GRCm39) N2646K unknown Het
Krt14 C G 11: 100,095,584 (GRCm39) V274L possibly damaging Het
Myo16 A T 8: 10,612,186 (GRCm39) D1277V unknown Het
Myo9a A T 9: 59,814,743 (GRCm39) E2226D probably damaging Het
Osbpl8 T C 10: 111,120,255 (GRCm39) V631A possibly damaging Het
Piezo2 G A 18: 63,175,882 (GRCm39) S1833L probably damaging Het
Pkp4 T C 2: 59,138,359 (GRCm39) V203A probably benign Het
Primpol T C 8: 47,032,197 (GRCm39) D459G probably benign Het
Prkdc G T 16: 15,634,749 (GRCm39) R3631S probably benign Het
Rbbp8nl T C 2: 179,920,001 (GRCm39) T558A probably benign Het
Rcc2 G A 4: 140,429,586 (GRCm39) C40Y probably benign Het
Rdx G A 9: 51,997,724 (GRCm39) R566Q probably damaging Het
Rhbdf2 A C 11: 116,498,191 (GRCm39) S3A probably benign Het
Rpap1 A T 2: 119,595,284 (GRCm39) I1319N probably benign Het
Sbno2 T A 10: 79,905,265 (GRCm39) I206F possibly damaging Het
Scn1a A G 2: 66,149,845 (GRCm39) V944A probably damaging Het
Scube1 C T 15: 83,543,226 (GRCm39) probably null Het
Slc22a20 G A 19: 6,021,439 (GRCm39) A521V probably benign Het
Slc6a4 C A 11: 76,901,424 (GRCm39) T53K probably benign Het
Snapc2 G A 8: 4,304,322 (GRCm39) R75Q probably damaging Het
Sptan1 A T 2: 29,884,351 (GRCm39) K662I probably benign Het
Sycp3 T C 10: 88,298,438 (GRCm39) S55P probably damaging Het
Tet2 A T 3: 133,173,753 (GRCm39) V1503D possibly damaging Het
Tfrc T A 16: 32,437,474 (GRCm39) N277K probably benign Het
Tlx3 A T 11: 33,151,283 (GRCm39) V291E probably damaging Het
Tnk1 A T 11: 69,747,327 (GRCm39) H101Q probably benign Het
Tns3 A T 11: 8,495,343 (GRCm39) D70E probably damaging Het
Trip11 C A 12: 101,803,924 (GRCm39) G1938C probably damaging Het
Tubg1 T C 11: 101,014,828 (GRCm39) L190P probably damaging Het
Vmn2r79 A T 7: 86,686,541 (GRCm39) S641C possibly damaging Het
Wnt8b A G 19: 44,481,952 (GRCm39) 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
R5508:Klf14 UTSW 6 30,934,977 (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
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'- CCAGTCTGTACCTCGGTCTAATG -3'
(R):5'- GTTTACGCGTTCTGATGAGC -3'

Sequencing Primer
(F):5'- TCTAATGACCCTGGAAAATAGGAATG -3'
(R):5'- TACGCGTTCTGATGAGCTAGCC -3'
Posted On 2020-01-23