Incidental Mutation 'R4562:Klf14'
ID 343134
Institutional Source Beutler Lab
Gene Symbol Klf14
Ensembl Gene ENSMUSG00000073209
Gene Name Kruppel-like transcription factor 14
Synonyms BTEB5, 5330411L03Rik
MMRRC Submission 041787-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4562 (G1)
Quality Score 205
Status Validated
Chromosome 6
Chromosomal Location 30932956-30935925 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 30935394 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 80 (A80V)
Ref Sequence ENSEMBL: ENSMUSP00000099122 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000101589]
AlphaFold Q19A41
Predicted Effect probably damaging
Transcript: ENSMUST00000101589
AA Change: A80V

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000099122
Gene: ENSMUSG00000073209
AA Change: A80V

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
Meta Mutation Damage Score 0.1016 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency 100% (53/53)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad9 G A 3: 36,120,331 (GRCm39) R25K probably benign Het
Acap1 C T 11: 69,776,177 (GRCm39) probably benign Het
Aox1 T C 1: 58,098,215 (GRCm39) L309P probably damaging Het
Asap2 A G 12: 21,162,094 (GRCm39) D17G probably damaging Het
Atp8b1 A T 18: 64,689,962 (GRCm39) V590D probably damaging Het
Bace2 G A 16: 97,223,180 (GRCm39) R368Q probably damaging Het
Cad G A 5: 31,215,477 (GRCm39) S96N possibly damaging Het
Csmd3 T C 15: 47,763,240 (GRCm39) T1303A probably benign Het
Defa24 A G 8: 22,224,523 (GRCm39) probably benign Het
Dffb A G 4: 154,049,913 (GRCm39) C317R probably damaging Het
Erap1 T C 13: 74,821,778 (GRCm39) V711A probably benign Het
Esco1 A G 18: 10,595,074 (GRCm39) S71P possibly damaging Het
Evpl G A 11: 116,124,225 (GRCm39) T198M possibly damaging Het
Gm10797 A G 10: 67,408,515 (GRCm39) noncoding transcript Het
Gm10822 C T 2: 73,729,833 (GRCm39) noncoding transcript Het
Huwe1 A T X: 150,646,955 (GRCm39) I682F probably damaging Het
Ift22 A G 5: 136,941,724 (GRCm39) E152G probably benign Het
Ighv3-5 T A 12: 114,226,498 (GRCm39) T25S possibly damaging Het
Ivl CCTGCTGCTGCT CCTGCTGCTGCTGCT 3: 92,479,262 (GRCm39) probably benign Het
Kcna5 T C 6: 126,511,303 (GRCm39) H275R probably benign Het
Kdm7a C T 6: 39,129,757 (GRCm39) R473Q probably damaging Het
Lrrc71 T A 3: 87,652,715 (GRCm39) probably benign Het
Lypd8 T A 11: 58,273,215 (GRCm39) probably null Het
Mef2b G A 8: 70,619,918 (GRCm39) D345N probably damaging Het
Mslnl G A 17: 25,961,908 (GRCm39) V128M probably damaging Het
Mtmr10 C T 7: 63,963,907 (GRCm39) T214M possibly damaging Het
Or10g9b A G 9: 39,917,577 (GRCm39) S223P probably damaging Het
Or13g1 A G 7: 85,956,360 (GRCm39) probably benign Het
Or4f4b A T 2: 111,313,909 (GRCm39) M45L probably benign Het
Orc1 T C 4: 108,459,252 (GRCm39) probably null Het
P4htm T C 9: 108,459,195 (GRCm39) S246G probably null Het
Pax2 A G 19: 44,824,402 (GRCm39) Y374C unknown Het
Pde6b A G 5: 108,551,234 (GRCm39) K173E probably benign Het
Pde8a T A 7: 80,958,568 (GRCm39) Y315* probably null Het
Plekhh2 A G 17: 84,873,525 (GRCm39) D270G probably benign Het
Prr5 A C 15: 84,626,114 (GRCm39) D63A probably damaging Het
Robo4 CGG CG 9: 37,322,786 (GRCm39) probably null Het
Ryr1 C A 7: 28,774,005 (GRCm39) probably benign Het
Slc4a1ap G A 5: 31,689,373 (GRCm39) V347M probably damaging Het
Tasor A G 14: 27,188,265 (GRCm39) T904A possibly damaging Het
Tln1 C A 4: 43,533,598 (GRCm39) A2319S probably damaging Het
Tm6sf1 G A 7: 81,509,209 (GRCm39) A5T probably damaging Het
Tmem117 A T 15: 94,992,677 (GRCm39) M446L probably benign Het
Tnfrsf22 C T 7: 143,203,313 (GRCm39) R19Q unknown Het
Tnfsf11 T C 14: 78,516,020 (GRCm39) D316G probably damaging Het
Trerf1 G A 17: 47,637,997 (GRCm39) noncoding transcript Het
Ttc13 A G 8: 125,402,016 (GRCm39) L657P probably damaging Het
Unc79 C T 12: 102,957,720 (GRCm39) T45I probably damaging Het
Usp3 G T 9: 66,428,047 (GRCm39) probably benign Het
Vmn2r-ps158 C T 7: 42,672,986 (GRCm39) Q130* probably null Het
Wdr31 A C 4: 62,372,159 (GRCm39) L319W probably damaging Het
Zfp947 G T 17: 22,365,124 (GRCm39) Y183* probably null Het
Other mutations in Klf14
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4518:Klf14 UTSW 6 30,934,867 (GRCm39) missense possibly damaging 0.77
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
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'- AATCACTGCAGGAGCTCTCG -3'
(R):5'- AGTGCCTGGTGTCTATGTCC -3'

Sequencing Primer
(F):5'- GTCAGAGAGCTCATCCTCGAAG -3'
(R):5'- GGTGTCTATGTCCACCCGC -3'
Posted On 2015-09-24