Incidental Mutation 'R9459:Klf10'
ID 714776
Institutional Source Beutler Lab
Gene Symbol Klf10
Ensembl Gene ENSMUSG00000037465
Gene Name Kruppel-like transcription factor 10
Synonyms Tieg1, Gdnfif, Egral, mGIF
MMRRC Submission
Accession Numbers
Essential gene? Possibly essential (E-score: 0.694) question?
Stock # R9459 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 38291707-38300950 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 38296171 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 473 (P473L)
Ref Sequence ENSEMBL: ENSMUSP00000073690 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074043] [ENSMUST00000226363] [ENSMUST00000227920] [ENSMUST00000228416] [ENSMUST00000228732] [ENSMUST00000228772]
AlphaFold O89091
Predicted Effect probably damaging
Transcript: ENSMUST00000074043
AA Change: P473L

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000073690
Gene: ENSMUSG00000037465
AA Change: P473L

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 damaging
Transcript: ENSMUST00000226363
AA Change: P458L

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
Predicted Effect probably benign
Transcript: ENSMUST00000227920
Predicted Effect probably benign
Transcript: ENSMUST00000228416
Predicted Effect probably benign
Transcript: ENSMUST00000228732
Predicted Effect probably benign
Transcript: ENSMUST00000228772
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a T A 5: 8,735,414 (GRCm39) probably null Het
Alms1 T A 6: 85,604,946 (GRCm39) C2199S probably damaging Het
Aox3 A G 1: 58,189,468 (GRCm39) I390V probably benign Het
Ap3b2 T C 7: 81,123,651 (GRCm39) N400S probably benign Het
Baalc A T 15: 38,797,419 (GRCm39) N70I probably benign Het
Brca2 T A 5: 150,464,094 (GRCm39) V1286D probably damaging Het
Ccdc30 T C 4: 119,234,470 (GRCm39) R81G possibly damaging Het
Cd209g T C 8: 4,185,610 (GRCm39) S15P probably benign Het
Chrnb3 G A 8: 27,883,884 (GRCm39) W207* probably null Het
Cmpk2 C T 12: 26,528,022 (GRCm39) T413M probably damaging Het
Coq4 T A 2: 29,678,562 (GRCm39) Y63N probably damaging Het
Depdc5 T A 5: 33,148,117 (GRCm39) S1478T probably damaging Het
Etf1 A G 18: 35,039,134 (GRCm39) F378L probably benign Het
Exoc6 T C 19: 37,574,341 (GRCm39) V324A probably benign Het
Frem2 A G 3: 53,560,907 (GRCm39) L1200P probably benign Het
Gadl1 T C 9: 115,794,679 (GRCm39) W285R probably damaging Het
Gbp3 A G 3: 142,270,707 (GRCm39) probably null Het
Gm14295 C T 2: 176,499,165 (GRCm39) T5I possibly damaging Het
Hps4 T C 5: 112,522,875 (GRCm39) S578P probably benign Het
Kctd13 T A 7: 126,544,254 (GRCm39) D317E probably damaging Het
Kdm4b T A 17: 56,706,509 (GRCm39) D881E probably benign Het
Lrch3 A T 16: 32,799,775 (GRCm39) D371V probably damaging Het
Msh2 T C 17: 87,985,758 (GRCm39) S112P possibly damaging Het
Msh3 A G 13: 92,352,047 (GRCm39) V1036A possibly damaging Het
Mybl1 A G 1: 9,746,484 (GRCm39) V392A possibly damaging Het
Myo7a T C 7: 97,722,380 (GRCm39) I1182V possibly damaging Het
Nectin1 A C 9: 43,715,090 (GRCm39) E442A probably benign Het
Nscme3l T A 19: 5,553,757 (GRCm39) H8L probably benign Het
Obsl1 G T 1: 75,474,884 (GRCm39) H839N probably benign Het
Or4c105 T C 2: 88,647,967 (GRCm39) F151L probably benign Het
Or9i1b T C 19: 13,896,674 (GRCm39) C97R possibly damaging Het
Pacs1 C T 19: 5,195,098 (GRCm39) probably null Het
Pcdh17 G T 14: 84,686,063 (GRCm39) E843D probably benign Het
Pcnt A G 10: 76,228,572 (GRCm39) L1531P probably damaging Het
Pdgfra A G 5: 75,353,129 (GRCm39) D973G probably damaging Het
Pkd2 A G 5: 104,614,800 (GRCm39) Y214C probably damaging Het
Plcb1 T C 2: 135,164,558 (GRCm39) Y427H probably benign Het
Ppm1h A G 10: 122,743,482 (GRCm39) N402S possibly damaging Het
Rassf4 T A 6: 116,618,749 (GRCm39) probably null Het
Ryr1 G A 7: 28,768,068 (GRCm39) T2856I probably damaging Het
Serpinb8 A T 1: 107,533,520 (GRCm39) K192* probably null Het
Slfn14 T G 11: 83,170,198 (GRCm39) Q482P possibly damaging Het
Spata2 A G 2: 167,327,205 (GRCm39) V64A probably benign Het
Tax1bp1 T G 6: 52,706,314 (GRCm39) V105G probably damaging Het
Tbc1d22a T G 15: 86,120,021 (GRCm39) S142A possibly damaging Het
Tdrd9 T C 12: 111,992,007 (GRCm39) F594S probably damaging Het
Uba3 T C 6: 97,166,559 (GRCm39) I281V probably benign Het
Uggt2 T C 14: 119,286,595 (GRCm39) E723G probably benign Het
Usp20 C T 2: 30,901,024 (GRCm39) S391F probably damaging Het
Usp24 T A 4: 106,199,555 (GRCm39) D166E probably damaging Het
Vmn1r1 A G 1: 181,985,503 (GRCm39) V54A probably benign Het
Zfp442 T A 2: 150,250,668 (GRCm39) E411D unknown Het
Zfp804a T C 2: 82,089,753 (GRCm39) I1194T probably 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
IGL02444:Klf10 APN 15 38,298,068 (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
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2022-06-15