Incidental Mutation 'IGL01934:Klf10'
ID180577
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Klf10
Ensembl Gene ENSMUSG00000037465
Gene NameKruppel-like factor 10
SynonymsTieg1, mGIF, Egral, Gdnfif
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.598) question?
Stock #IGL01934
Quality Score
Status
Chromosome15
Chromosomal Location38291463-38300706 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 38297284 bp
ZygosityHeterozygous
Amino Acid Change Valine to Methionine at position 171 (V171M)
Ref Sequence ENSEMBL: ENSMUSP00000154265 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074043] [ENSMUST00000226363] [ENSMUST00000227920] [ENSMUST00000228416] [ENSMUST00000228732] [ENSMUST00000228772]
Predicted Effect probably benign
Transcript: ENSMUST00000074043
AA Change: V171M

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000073690
Gene: ENSMUSG00000037465
AA Change: V171M

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 probably benign
Transcript: ENSMUST00000226363
AA Change: V156M

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
Predicted Effect probably benign
Transcript: ENSMUST00000227920
AA Change: V171M

PolyPhen 2 Score 0.352 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect probably benign
Transcript: ENSMUST00000228416
Predicted Effect probably benign
Transcript: ENSMUST00000228732
Predicted Effect probably benign
Transcript: ENSMUST00000228772
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931414P19Rik T C 14: 54,585,655 K362E probably damaging Het
4932438H23Rik T A 16: 91,055,865 T128S probably damaging Het
Aars T A 8: 111,048,018 I593N probably damaging Het
Abca6 A T 11: 110,188,655 N1224K probably benign Het
Abcc5 A T 16: 20,422,441 probably benign Het
Adam7 A G 14: 68,532,599 L35P probably damaging Het
Ahnak T A 19: 9,002,657 L435Q probably damaging Het
Ankef1 A G 2: 136,552,531 E620G possibly damaging Het
Ap3d1 A T 10: 80,709,258 L1082* probably null Het
Atp6v0a4 T A 6: 38,051,546 I712F possibly damaging Het
Bco1 T A 8: 117,096,045 F5L possibly damaging Het
Cacna2d4 A T 6: 119,308,768 S794C probably damaging Het
Camk2d T C 3: 126,834,655 probably null Het
Capn15 T C 17: 25,963,024 T604A probably damaging Het
Cd180 A T 13: 102,702,858 D83V probably damaging Het
Ces1a C A 8: 93,032,650 R286L probably damaging Het
Col6a6 A G 9: 105,698,659 probably null Het
Crnkl1 A G 2: 145,931,282 V148A probably benign Het
Epas1 A T 17: 86,823,729 K312N probably damaging Het
Fbxw2 T C 2: 34,822,606 S148G probably damaging Het
Fig4 T C 10: 41,228,112 T791A probably benign Het
Galnt9 A T 5: 110,602,636 I340F possibly damaging Het
Gfap G A 11: 102,894,460 A230V probably damaging Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm454 T C 5: 138,207,162 noncoding transcript Het
Il24 A T 1: 130,883,877 L115Q probably damaging Het
Ipp C A 4: 116,510,655 N28K probably damaging Het
Kalrn A T 16: 34,198,512 probably null Het
Man1b1 T C 2: 25,345,511 S350P probably benign Het
Mfsd4a T C 1: 132,046,311 Y343C probably damaging Het
Mrpl58 C A 11: 115,410,729 probably benign Het
Myo7b A G 18: 32,001,341 probably null Het
Nbas T C 12: 13,289,879 probably benign Het
Nisch A G 14: 31,176,739 probably benign Het
Olfr494 A G 7: 108,368,161 I224V probably damaging Het
Olfr619 T C 7: 103,603,975 F107S probably damaging Het
Olfr97 A T 17: 37,231,548 V274D probably damaging Het
Parva T A 7: 112,588,553 C352* probably null Het
Ptf1a T A 2: 19,446,620 C254S possibly damaging Het
R3hdm1 G T 1: 128,236,535 R1062L probably benign Het
Rnf44 A G 13: 54,681,950 V407A probably damaging Het
Shank3 T C 15: 89,549,846 L1598P probably damaging Het
Slit2 T C 5: 48,238,405 S717P possibly damaging Het
Svs1 A T 6: 48,988,761 I568F probably damaging Het
Tdpoz4 A G 3: 93,797,472 K359E probably damaging Het
Tmtc4 A T 14: 122,927,635 L604* probably null Het
Tnfrsf21 A T 17: 43,065,187 N488I probably benign Het
Tnfsf8 A G 4: 63,834,510 probably benign Het
Tnpo3 A T 6: 29,575,020 L382M probably benign Het
Tut1 T C 19: 8,953,991 C18R probably damaging Het
Ugt8a A G 3: 125,914,775 S229P probably benign Het
Usp22 T C 11: 61,155,288 E476G probably damaging Het
Vill G T 9: 119,066,809 A146S probably damaging Het
Vmn1r178 T C 7: 23,893,937 Y137H probably damaging Het
Wdfy1 A T 1: 79,740,116 W51R probably damaging Het
Zc3hav1 A T 6: 38,319,833 probably null Het
Zfp236 A T 18: 82,633,120 V889E probably damaging Het
Zscan20 T C 4: 128,592,484 D141G possibly damaging Het
Other mutations in Klf10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02168:Klf10 APN 15 38296841 missense probably damaging 1.00
IGL02444:Klf10 APN 15 38297824 missense probably damaging 1.00
R0360:Klf10 UTSW 15 38296846 missense probably benign
R1544:Klf10 UTSW 15 38296786 missense probably damaging 1.00
R1961:Klf10 UTSW 15 38295996 missense probably damaging 0.99
R2301:Klf10 UTSW 15 38297082 missense possibly damaging 0.83
R2517:Klf10 UTSW 15 38297113 missense probably benign 0.26
R5217:Klf10 UTSW 15 38296087 missense probably damaging 1.00
R5498:Klf10 UTSW 15 38296039 missense probably damaging 1.00
R5994:Klf10 UTSW 15 38296041 missense probably damaging 0.99
R6086:Klf10 UTSW 15 38296937 missense probably benign 0.02
R7386:Klf10 UTSW 15 38296949 missense possibly damaging 0.68
R7474:Klf10 UTSW 15 38297202 missense probably benign 0.05
R7579:Klf10 UTSW 15 38297038 missense probably benign 0.02
R7617:Klf10 UTSW 15 38296836 missense probably damaging 0.97
Posted On2014-05-07