Incidental Mutation 'R7386:Klf10'
ID 573122
Institutional Source Beutler Lab
Gene Symbol Klf10
Ensembl Gene ENSMUSG00000037465
Gene Name Kruppel-like transcription factor 10
Synonyms Tieg1, Gdnfif, Egral, mGIF
MMRRC Submission 045468-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.694) question?
Stock # R7386 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 38291707-38300950 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 38297193 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 282 (N282K)
Ref Sequence ENSEMBL: ENSMUSP00000073690 (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: N282K

PolyPhen 2 Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000073690
Gene: ENSMUSG00000037465
AA Change: N282K

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: N267K

PolyPhen 2 Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)
Predicted Effect possibly damaging
Transcript: ENSMUST00000227920
AA Change: N282K

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
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: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 100% (66/66)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930546C10Rik A T 18: 69,083,208 (GRCm39) M2K unknown Het
Ablim3 T C 18: 61,955,065 (GRCm39) D308G probably damaging Het
Adamts17 A T 7: 66,618,597 (GRCm39) K370N probably benign Het
Adcy4 T C 14: 56,015,784 (GRCm39) Y435C probably damaging Het
Adgb A T 10: 10,253,693 (GRCm39) F1216I possibly damaging Het
Akr1a1 G A 4: 116,498,251 (GRCm39) T98I probably damaging Het
Alyref2 G T 1: 171,331,101 (GRCm39) probably benign Het
Ank3 T A 10: 69,658,079 (GRCm39) H168Q unknown Het
Bnc1 A C 7: 81,624,240 (GRCm39) L329R possibly damaging Het
Btaf1 G A 19: 36,935,782 (GRCm39) A191T probably benign Het
Carmil3 T G 14: 55,735,204 (GRCm39) probably null Het
Cd200r1 C A 16: 44,610,211 (GRCm39) D143E probably benign Het
Cep112 A G 11: 108,699,507 (GRCm39) H98R probably benign Het
Cmya5 T A 13: 93,205,831 (GRCm39) Q3346L probably damaging Het
Cpne4 T A 9: 104,749,939 (GRCm39) V81E possibly damaging Het
Ctnnd2 T A 15: 30,966,914 (GRCm39) M955K probably damaging Het
Ctsj A T 13: 61,148,373 (GRCm39) M307K possibly damaging Het
Ddhd2 G T 8: 26,244,318 (GRCm39) R103S possibly damaging Het
Depdc5 A G 5: 33,085,280 (GRCm39) T700A probably benign Het
Dhx57 A C 17: 80,575,006 (GRCm39) D657E possibly damaging Het
Dmbt1 G A 7: 130,713,965 (GRCm39) G1678S unknown Het
Dnajb1 A G 8: 84,336,932 (GRCm39) D234G probably benign Het
Dsc2 C T 18: 20,174,983 (GRCm39) V431M possibly damaging Het
Evi5 C A 5: 107,957,689 (GRCm39) probably null Het
Exoc2 T C 13: 31,090,646 (GRCm39) probably null Het
Foxo3 T C 10: 42,073,356 (GRCm39) D387G probably benign Het
Gda A G 19: 21,387,250 (GRCm39) I325T probably benign Het
Iqgap1 A G 7: 80,375,790 (GRCm39) S1362P probably damaging Het
Mettl13 A G 1: 162,375,723 (GRCm39) Y35H probably damaging Het
Mill2 A G 7: 18,592,215 (GRCm39) T279A probably benign Het
Ncaph2 G A 15: 89,254,459 (GRCm39) W386* probably null Het
Nploc4 A T 11: 120,299,707 (GRCm39) S338T probably benign Het
Nrip1 T C 16: 76,090,775 (GRCm39) S261G probably damaging Het
Or2y16 T C 11: 49,335,227 (GRCm39) F183S possibly damaging Het
Or5al1 A G 2: 85,989,874 (GRCm39) V280A possibly damaging Het
Or7a38 T A 10: 78,752,677 (GRCm39) M1K probably null Het
Palld A G 8: 61,985,086 (GRCm39) F1060L unknown Het
Pfas C G 11: 68,894,600 (GRCm39) V22L probably benign Het
Pygo2 T G 3: 89,340,128 (GRCm39) F175L probably benign Het
Rnf2 T C 1: 151,347,131 (GRCm39) E316G probably damaging Het
Rtn4 T A 11: 29,657,772 (GRCm39) M642K probably damaging Het
Saa3 A G 7: 46,364,347 (GRCm39) C60R unknown Het
Saxo5 A G 8: 3,537,079 (GRCm39) K475R probably benign Het
Scap A G 9: 110,202,237 (GRCm39) T202A probably benign Het
Scn9a T A 2: 66,370,894 (GRCm39) D562V probably damaging Het
Slc6a19 A T 13: 73,838,010 (GRCm39) V163E possibly damaging Het
Smc5 G A 19: 23,192,539 (GRCm39) H850Y possibly damaging Het
Spef1l A T 7: 139,555,965 (GRCm39) C225* probably null Het
Sqle G A 15: 59,202,603 (GRCm39) R519Q probably benign Het
Sulf1 T C 1: 12,908,585 (GRCm39) Y533H probably benign Het
Thbs2 A G 17: 14,893,412 (GRCm39) S923P possibly damaging Het
Themis A G 10: 28,665,743 (GRCm39) D602G probably benign Het
Tmem132c A G 5: 127,640,990 (GRCm39) K1054E probably benign Het
Tmem161b C A 13: 84,370,537 (GRCm39) probably benign Het
Tnrc6c T A 11: 117,612,780 (GRCm39) C313S probably benign Het
Top6bl G A 19: 4,713,586 (GRCm39) R285* probably null Het
Tpm1 T C 9: 66,935,449 (GRCm39) I284M probably benign Het
Trpm4 A T 7: 44,964,064 (GRCm39) L722H possibly damaging Het
Trub2 T G 2: 29,676,607 (GRCm39) Q41P probably benign Het
Usp17le A C 7: 104,417,514 (GRCm39) probably null Het
Zfp398 G A 6: 47,835,884 (GRCm39) V148I probably benign Het
Zfp40 T C 17: 23,395,981 (GRCm39) E202G probably damaging Het
Zfp618 T A 4: 63,013,622 (GRCm39) probably null Het
Zfp667 T A 7: 6,308,949 (GRCm39) I539N possibly damaging Het
Zfp738 A T 13: 67,818,369 (GRCm39) C541S 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
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
Predicted Primers PCR Primer
(F):5'- AGTGACCCTTGCTGCTGAAG -3'
(R):5'- GGCGCTGCACTATATGACTTTG -3'

Sequencing Primer
(F):5'- CCTTGCTGCTGAAGGAGAGAATC -3'
(R):5'- GCTGTGCCTTCCTCAGAGACAG -3'
Posted On 2019-09-13