Incidental Mutation 'IGL02444:Klf10'
ID 293500
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Klf10
Ensembl Gene ENSMUSG00000037465
Gene Name Kruppel-like transcription factor 10
Synonyms Tieg1, Gdnfif, Egral, mGIF
Accession Numbers
Essential gene? Possibly essential (E-score: 0.694) question?
Stock # IGL02444
Quality Score
Status
Chromosome 15
Chromosomal Location 38291707-38300950 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 38298068 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Methionine at position 43 (K43M)
Ref Sequence ENSEMBL: ENSMUSP00000154055 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074043] [ENSMUST00000226363] [ENSMUST00000227920] [ENSMUST00000228416] [ENSMUST00000228732] [ENSMUST00000228772]
AlphaFold O89091
Predicted Effect possibly damaging
Transcript: ENSMUST00000074043
AA Change: K22M

PolyPhen 2 Score 0.724 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000073690
Gene: ENSMUSG00000037465
AA Change: K22M

DomainStartEndE-ValueType
low complexity region 134 149 N/A INTRINSIC
low complexity region 285 298 N/A INTRINSIC
low complexity region 316 336 N/A INTRINSIC
ZnF_C2H2 368 392 1.56e-2 SMART
ZnF_C2H2 398 422 5.99e-4 SMART
ZnF_C2H2 428 450 3.63e-3 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000226363
AA Change: K7M

PolyPhen 2 Score 0.724 (Sensitivity: 0.86; Specificity: 0.92)
Predicted Effect possibly damaging
Transcript: ENSMUST00000227920
AA Change: K22M

PolyPhen 2 Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)
Predicted Effect probably benign
Transcript: ENSMUST00000228416
Predicted Effect probably damaging
Transcript: ENSMUST00000228732
AA Change: K7M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000228772
AA Change: K43M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a family of proteins that feature C2H2-type zinc finger domains. The encoded protein is a transcriptional repressor that acts as an effector of transforming growth factor beta signaling. Activity of this protein may inhibit the growth of cancers, particularly pancreatic cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013]
PHENOTYPE: Homozygous mutants display increased osteoblast formation and impaired osteoblast function. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam26a A G 8: 44,022,710 (GRCm39) I260T possibly damaging Het
Arhgap9 T A 10: 127,163,816 (GRCm39) V484D probably damaging Het
Asph A G 4: 9,542,319 (GRCm39) probably benign Het
Bbs9 T C 9: 22,555,083 (GRCm39) S457P probably damaging Het
Bckdk A G 7: 127,506,618 (GRCm39) T38A probably damaging Het
Cast G A 13: 74,887,972 (GRCm39) T240I probably damaging Het
Cdc27 T C 11: 104,413,542 (GRCm39) probably benign Het
Cdon T C 9: 35,384,744 (GRCm39) S677P probably benign Het
Cfap161 T C 7: 83,425,353 (GRCm39) E246G probably damaging Het
Dnah11 G A 12: 117,939,608 (GRCm39) probably benign Het
Dnm3 C T 1: 161,838,444 (GRCm39) V835I possibly damaging Het
Eif3a T C 19: 60,762,045 (GRCm39) H510R possibly damaging Het
Fbxw2 G T 2: 34,695,793 (GRCm39) T367K probably benign Het
Ghsr T C 3: 27,426,189 (GRCm39) S82P probably benign Het
Gm4353 C T 7: 115,682,679 (GRCm39) V301I probably benign Het
Golgb1 T C 16: 36,728,178 (GRCm39) probably benign Het
Gria2 T A 3: 80,609,860 (GRCm39) M650L possibly damaging Het
Herc4 T C 10: 63,142,212 (GRCm39) V671A probably benign Het
Iqcb1 T A 16: 36,652,273 (GRCm39) Y61* probably null Het
Irs2 C T 8: 11,056,306 (GRCm39) G709S probably benign Het
Itpripl1 T G 2: 126,983,621 (GRCm39) H167P possibly damaging Het
Kcnn3 T C 3: 89,559,359 (GRCm39) V543A possibly damaging Het
Lcor C T 19: 41,547,450 (GRCm39) R345C probably damaging Het
Lmntd2 A G 7: 140,791,832 (GRCm39) S304P probably damaging Het
Lpar3 T C 3: 145,946,949 (GRCm39) I209T probably damaging Het
Map3k13 T A 16: 21,732,982 (GRCm39) M528K probably benign Het
Me1 A T 9: 86,464,967 (GRCm39) probably benign Het
Nedd4l T G 18: 65,337,028 (GRCm39) probably benign Het
Oas1d T A 5: 121,058,071 (GRCm39) F338L probably benign Het
Or1b1 G T 2: 36,994,786 (GRCm39) P292Q probably damaging Het
Or2c1 T C 16: 3,657,551 (GRCm39) F238S probably damaging Het
Pcdhb5 T C 18: 37,454,103 (GRCm39) V161A probably benign Het
Prdx3 A T 19: 60,859,899 (GRCm39) F91L possibly damaging Het
Rab25 T C 3: 88,450,020 (GRCm39) T114A probably benign Het
Rasal2 T C 1: 157,126,765 (GRCm39) E73G probably benign Het
Slco4c1 A G 1: 96,772,234 (GRCm39) S252P probably damaging Het
Srgap2 A C 1: 131,252,891 (GRCm39) probably null Het
Synpo A G 18: 60,735,502 (GRCm39) S576P probably damaging Het
Tktl2 G T 8: 66,966,013 (GRCm39) A524S possibly damaging Het
Tln2 A T 9: 67,165,874 (GRCm39) probably benign Het
Tmem52 G A 4: 155,554,850 (GRCm39) D158N probably damaging Het
Tyw3 T A 3: 154,302,626 (GRCm39) Q36L probably damaging Het
Usp10 A T 8: 120,675,432 (GRCm39) I483F possibly damaging Het
Usp31 A G 7: 121,278,718 (GRCm39) Y216H probably damaging Het
Vmn1r181 T C 7: 23,683,948 (GRCm39) S138P probably damaging Het
Vmn2r42 G T 7: 8,187,312 (GRCm39) A770E probably damaging Het
Zfp292 A C 4: 34,808,810 (GRCm39) S1411R possibly damaging Het
Other mutations in Klf10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01934:Klf10 APN 15 38,297,528 (GRCm39) missense probably benign 0.35
IGL02168:Klf10 APN 15 38,297,085 (GRCm39) missense probably damaging 1.00
R0360:Klf10 UTSW 15 38,297,090 (GRCm39) missense probably benign
R1544:Klf10 UTSW 15 38,297,030 (GRCm39) missense probably damaging 1.00
R1961:Klf10 UTSW 15 38,296,240 (GRCm39) missense probably damaging 0.99
R2301:Klf10 UTSW 15 38,297,326 (GRCm39) missense possibly damaging 0.83
R2517:Klf10 UTSW 15 38,297,357 (GRCm39) missense probably benign 0.26
R5217:Klf10 UTSW 15 38,296,331 (GRCm39) missense probably damaging 1.00
R5498:Klf10 UTSW 15 38,296,283 (GRCm39) missense probably damaging 1.00
R5994:Klf10 UTSW 15 38,296,285 (GRCm39) missense probably damaging 0.99
R6086:Klf10 UTSW 15 38,297,181 (GRCm39) missense probably benign 0.02
R7386:Klf10 UTSW 15 38,297,193 (GRCm39) missense possibly damaging 0.68
R7474:Klf10 UTSW 15 38,297,446 (GRCm39) missense probably benign 0.05
R7579:Klf10 UTSW 15 38,297,282 (GRCm39) missense probably benign 0.02
R7617:Klf10 UTSW 15 38,297,080 (GRCm39) missense probably damaging 0.97
R9269:Klf10 UTSW 15 38,298,002 (GRCm39) missense probably damaging 1.00
R9459:Klf10 UTSW 15 38,296,171 (GRCm39) missense probably damaging 0.98
Posted On 2015-04-16