Incidental Mutation 'IGL02331:Klf3'
ID 288679
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Klf3
Ensembl Gene ENSMUSG00000029178
Gene Name Kruppel-like transcription factor 3 (basic)
Synonyms Tef-2, BKLF, 9930027G08Rik, Bklf
Accession Numbers
Essential gene? Probably non essential (E-score: 0.194) question?
Stock # IGL02331
Quality Score
Status
Chromosome 5
Chromosomal Location 64960864-64990246 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 64986415 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 111 (K111E)
Ref Sequence ENSEMBL: ENSMUSP00000142651 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000165536] [ENSMUST00000166409] [ENSMUST00000198946] [ENSMUST00000200384]
AlphaFold Q60980
Predicted Effect possibly damaging
Transcript: ENSMUST00000165536
AA Change: K317E

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000129363
Gene: ENSMUSG00000029178
AA Change: K317E

DomainStartEndE-ValueType
low complexity region 70 81 N/A INTRINSIC
low complexity region 91 111 N/A INTRINSIC
low complexity region 138 153 N/A INTRINSIC
ZnF_C2H2 259 283 6.32e-3 SMART
ZnF_C2H2 289 313 1.6e-4 SMART
ZnF_C2H2 319 341 8.47e-4 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000166409
AA Change: K317E

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000128429
Gene: ENSMUSG00000029178
AA Change: K317E

DomainStartEndE-ValueType
low complexity region 70 81 N/A INTRINSIC
low complexity region 91 111 N/A INTRINSIC
low complexity region 138 153 N/A INTRINSIC
ZnF_C2H2 259 283 6.32e-3 SMART
ZnF_C2H2 289 313 1.6e-4 SMART
ZnF_C2H2 319 341 8.47e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196764
Predicted Effect probably damaging
Transcript: ENSMUST00000198946
AA Change: K111E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000142651
Gene: ENSMUSG00000029178
AA Change: K111E

DomainStartEndE-ValueType
ZnF_C2H2 53 77 2.7e-5 SMART
ZnF_C2H2 83 107 6.9e-7 SMART
ZnF_C2H2 113 135 3.7e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000200384
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous null mice display reduced viability, body size and white adipose tissue. Mice homozygous for a gene trap allele exhibit cardiac defects, reduced body size and abnormal red blood cells. Mice heterozygous for an ENU-induced allele exhibit lethality with heart defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ace T G 11: 105,862,170 (GRCm39) F241L possibly damaging Het
Alx1 A G 10: 102,858,160 (GRCm39) F180L possibly damaging Het
Apaf1 T C 10: 90,895,481 (GRCm39) D428G probably damaging Het
Arap2 G T 5: 62,807,025 (GRCm39) probably benign Het
Arnt2 A G 7: 83,914,832 (GRCm39) Y511H probably damaging Het
Bmp7 A T 2: 172,714,724 (GRCm39) C362S probably damaging Het
Bpifb9a A G 2: 154,104,307 (GRCm39) D250G possibly damaging Het
Ccnk T A 12: 108,155,343 (GRCm39) L100H probably damaging Het
Cdh23 T C 10: 60,301,322 (GRCm39) I451V probably damaging Het
Cemip A G 7: 83,613,192 (GRCm39) probably null Het
Cep78 T A 19: 15,951,779 (GRCm39) Q342L probably benign Het
Clca3b T C 3: 144,547,167 (GRCm39) probably benign Het
Cpb2 A G 14: 75,520,844 (GRCm39) R420G possibly damaging Het
Cyp2c50 A T 19: 40,079,387 (GRCm39) probably null Het
Dbnl T C 11: 5,749,997 (GRCm39) *433R probably null Het
Elovl5 T C 9: 77,887,181 (GRCm39) S191P possibly damaging Het
Fbxo42 A G 4: 140,895,157 (GRCm39) E40G probably benign Het
Fpgt T C 3: 154,793,499 (GRCm39) D176G possibly damaging Het
Gm1110 C A 9: 26,824,583 (GRCm39) probably null Het
Grik4 A T 9: 42,453,284 (GRCm39) S700R probably damaging Het
Herc4 T C 10: 63,099,939 (GRCm39) S121P probably benign Het
Hps4 T C 5: 112,517,402 (GRCm39) V263A probably benign Het
Hsd11b1 A C 1: 192,922,924 (GRCm39) L81R probably damaging Het
Ift122 T C 6: 115,864,285 (GRCm39) M310T probably damaging Het
Isg20l2 G T 3: 87,839,394 (GRCm39) V202L probably damaging Het
Kxd1 T C 8: 70,968,090 (GRCm39) T128A probably benign Het
Lgals7 A G 7: 28,565,143 (GRCm39) T94A probably benign Het
Lrp5 T C 19: 3,641,816 (GRCm39) H1382R possibly damaging Het
Muc6 T C 7: 141,226,726 (GRCm39) T1434A possibly damaging Het
Mybl2 C T 2: 162,916,605 (GRCm39) R419W probably damaging Het
Myo5b A T 18: 74,771,111 (GRCm39) probably null Het
Myo7a A G 7: 97,702,389 (GRCm39) V2138A possibly damaging Het
Naip1 T A 13: 100,563,304 (GRCm39) K620N probably benign Het
Ntrk2 T C 13: 58,994,670 (GRCm39) probably null Het
Or8g21 A G 9: 38,906,402 (GRCm39) S110P probably damaging Het
Osbpl5 A G 7: 143,263,532 (GRCm39) V105A probably benign Het
Pfkp A C 13: 6,647,996 (GRCm39) F527V probably benign Het
Pilra C A 5: 137,833,917 (GRCm39) G47* probably null Het
Pkdrej C A 15: 85,705,528 (GRCm39) C136F probably damaging Het
Ppp1r16a T A 15: 76,575,200 (GRCm39) M36K probably benign Het
Rita1 C T 5: 120,747,858 (GRCm39) A147T probably damaging Het
Rnf40 T C 7: 127,188,999 (GRCm39) V124A probably benign Het
St7l A G 3: 104,833,904 (GRCm39) T522A probably damaging Het
Stox2 G A 8: 47,644,979 (GRCm39) P891L probably damaging Het
Trbv12-1 T C 6: 41,090,972 (GRCm39) S115P probably damaging Het
Trpm1 A G 7: 63,884,800 (GRCm39) D827G probably benign Het
Ttll6 T A 11: 96,026,573 (GRCm39) M119K probably damaging Het
Ufl1 C A 4: 25,251,971 (GRCm39) C568F probably damaging Het
Usp29 A T 7: 6,965,155 (GRCm39) I333F probably benign Het
Vta1 G A 10: 14,581,138 (GRCm39) T23M probably damaging Het
Zswim8 A G 14: 20,773,325 (GRCm39) D1771G probably damaging Het
Other mutations in Klf3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01124:Klf3 APN 5 64,974,123 (GRCm39) missense possibly damaging 0.52
IGL01967:Klf3 APN 5 64,979,430 (GRCm39) missense probably damaging 0.99
R0126:Klf3 UTSW 5 64,979,446 (GRCm39) missense probably benign 0.15
R1883:Klf3 UTSW 5 64,980,224 (GRCm39) missense probably damaging 1.00
R2095:Klf3 UTSW 5 64,979,245 (GRCm39) missense probably benign 0.15
R2102:Klf3 UTSW 5 64,979,266 (GRCm39) missense probably damaging 0.96
R3767:Klf3 UTSW 5 64,984,560 (GRCm39) splice site probably null
R3768:Klf3 UTSW 5 64,984,560 (GRCm39) splice site probably null
R3769:Klf3 UTSW 5 64,984,560 (GRCm39) splice site probably null
R3770:Klf3 UTSW 5 64,984,560 (GRCm39) splice site probably null
R4405:Klf3 UTSW 5 64,986,347 (GRCm39) missense possibly damaging 0.93
R5936:Klf3 UTSW 5 64,980,303 (GRCm39) missense probably damaging 1.00
R6484:Klf3 UTSW 5 64,980,372 (GRCm39) missense probably damaging 0.99
R9295:Klf3 UTSW 5 64,980,240 (GRCm39) missense possibly damaging 0.96
Posted On 2015-04-16