Incidental Mutation 'IGL01124:Klf3'
ID 51153
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? Possibly non essential (E-score: 0.275) question?
Stock # IGL01124
Quality Score
Status
Chromosome 5
Chromosomal Location 64960864-64990246 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 64974123 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 3 (M3V)
Ref Sequence ENSEMBL: ENSMUSP00000142369 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000165536] [ENSMUST00000166409] [ENSMUST00000197879]
AlphaFold Q60980
Predicted Effect probably benign
Transcript: ENSMUST00000165536
AA Change: M3V

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000129363
Gene: ENSMUSG00000029178
AA Change: M3V

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 probably benign
Transcript: ENSMUST00000166409
AA Change: M3V

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000128429
Gene: ENSMUSG00000029178
AA Change: M3V

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 noncoding transcript
Transcript: ENSMUST00000197869
Predicted Effect possibly damaging
Transcript: ENSMUST00000197879
AA Change: M3V

PolyPhen 2 Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000142369
Gene: ENSMUSG00000029178
AA Change: M3V

DomainStartEndE-ValueType
low complexity region 70 81 N/A INTRINSIC
low complexity region 91 111 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200587
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200677
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ascc3 T C 10: 50,608,569 (GRCm39) I1477T probably damaging Het
Baat A G 4: 49,490,391 (GRCm39) I231T possibly damaging Het
Cactin T C 10: 81,160,184 (GRCm39) S426P possibly damaging Het
Cfh A T 1: 140,110,999 (GRCm39) F6I probably benign Het
Clec4a2 C T 6: 123,116,037 (GRCm39) probably benign Het
Col12a1 A G 9: 79,611,129 (GRCm39) S148P probably damaging Het
Cubn G T 2: 13,482,904 (GRCm39) Q281K possibly damaging Het
Cyp2c65 T A 19: 39,081,954 (GRCm39) probably benign Het
Dennd4b A T 3: 90,176,381 (GRCm39) T243S possibly damaging Het
Epha8 C T 4: 136,663,394 (GRCm39) G518D probably damaging Het
Fmo3 G A 1: 162,785,830 (GRCm39) R387C probably damaging Het
Foxo6 T C 4: 120,126,349 (GRCm39) T149A probably benign Het
Fthl17d T C X: 8,852,827 (GRCm39) E3G probably benign Het
Gm10521 A G 1: 171,724,010 (GRCm39) Y107C unknown Het
Ipo8 T A 6: 148,678,874 (GRCm39) E908V probably benign Het
Kcnd2 T C 6: 21,217,216 (GRCm39) S307P probably damaging Het
Ldb3 T A 14: 34,266,157 (GRCm39) E417D probably damaging Het
Lrch1 A T 14: 74,994,503 (GRCm39) D673E probably benign Het
Map3k4 T C 17: 12,474,087 (GRCm39) K865E probably benign Het
Muc4 G A 16: 32,589,104 (GRCm39) V754I possibly damaging Het
Nek4 A G 14: 30,692,219 (GRCm39) N223D probably benign Het
Nell2 G A 15: 95,194,060 (GRCm39) T551M probably damaging Het
Nup155 T A 15: 8,183,163 (GRCm39) M1241K probably damaging Het
Or2t49 A T 11: 58,393,020 (GRCm39) S121T possibly damaging Het
Or5i1 T C 2: 87,613,720 (GRCm39) F279L probably benign Het
Orc1 T C 4: 108,445,984 (GRCm39) probably benign Het
Pclo T C 5: 14,764,343 (GRCm39) I4272T unknown Het
Ppp1r12c A G 7: 4,500,344 (GRCm39) probably benign Het
Prcp A G 7: 92,559,416 (GRCm39) E160G probably benign Het
Prl3d3 G A 13: 27,343,090 (GRCm39) R92Q possibly damaging Het
Prl6a1 T A 13: 27,500,347 (GRCm39) M106K possibly damaging Het
Slc22a1 T A 17: 12,869,749 (GRCm39) probably benign Het
Slco3a1 A G 7: 73,934,295 (GRCm39) Y626H probably damaging Het
Smtn A G 11: 3,476,326 (GRCm39) probably null Het
Snx30 T C 4: 59,886,404 (GRCm39) probably benign Het
Spock2 A G 10: 59,967,209 (GRCm39) D393G unknown Het
Trem3 T G 17: 48,556,829 (GRCm39) L100R probably damaging Het
Trpm2 A T 10: 77,781,659 (GRCm39) probably benign Het
Ubr1 T C 2: 120,745,386 (GRCm39) M901V probably benign Het
Usp28 T A 9: 48,948,513 (GRCm39) S873T probably damaging Het
Vmn1r86 T C 7: 12,836,856 (GRCm39) I7V probably benign Het
Xirp2 T C 2: 67,338,959 (GRCm39) L400P probably damaging Het
Other mutations in Klf3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01967:Klf3 APN 5 64,979,430 (GRCm39) missense probably damaging 0.99
IGL02331:Klf3 APN 5 64,986,415 (GRCm39) missense probably damaging 1.00
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 2013-06-21