Incidental Mutation 'R2517:Klf10'
ID 253990
Institutional Source Beutler Lab
Gene Symbol Klf10
Ensembl Gene ENSMUSG00000037465
Gene Name Kruppel-like transcription factor 10
Synonyms Tieg1, Gdnfif, Egral, mGIF
MMRRC Submission 040421-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.694) question?
Stock # R2517 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 38291707-38300950 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 38297357 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Aspartic acid at position 228 (Y228D)
Ref Sequence ENSEMBL: ENSMUSP00000154265 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074043] [ENSMUST00000226363] [ENSMUST00000227920] [ENSMUST00000228416] [ENSMUST00000228732] [ENSMUST00000228772]
AlphaFold O89091
Predicted Effect probably benign
Transcript: ENSMUST00000074043
AA Change: Y228D

PolyPhen 2 Score 0.175 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000073690
Gene: ENSMUSG00000037465
AA Change: Y228D

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: Y213D

PolyPhen 2 Score 0.175 (Sensitivity: 0.92; Specificity: 0.87)
Predicted Effect probably benign
Transcript: ENSMUST00000227920
AA Change: Y228D

PolyPhen 2 Score 0.256 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect probably benign
Transcript: ENSMUST00000228416
Predicted Effect probably benign
Transcript: ENSMUST00000228732
Predicted Effect probably benign
Transcript: ENSMUST00000228772
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.2%
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy4 C A 14: 56,019,403 (GRCm39) E82D probably damaging Het
Ago1 G A 4: 126,333,732 (GRCm39) R486* probably null Het
Ago2 T A 15: 72,996,091 (GRCm39) N346I possibly damaging Het
Apol11a A T 15: 77,401,395 (GRCm39) D294V probably benign Het
Atp13a5 A G 16: 29,116,215 (GRCm39) F634L possibly damaging Het
Atp2a2 G A 5: 122,595,576 (GRCm39) P953L probably damaging Het
Brca2 A G 5: 150,463,137 (GRCm39) D967G probably benign Het
Bud13 A T 9: 46,199,446 (GRCm39) H269L probably benign Het
Cachd1 A T 4: 100,838,079 (GRCm39) probably null Het
Cog3 T C 14: 75,979,182 (GRCm39) D188G probably benign Het
Col15a1 T C 4: 47,208,492 (GRCm39) S20P probably damaging Het
Col4a3 A G 1: 82,658,431 (GRCm39) D838G unknown Het
Cwh43 A T 5: 73,578,886 (GRCm39) T298S probably benign Het
Dip2c A G 13: 9,659,041 (GRCm39) R847G probably damaging Het
Dnah2 C T 11: 69,407,470 (GRCm39) D438N probably damaging Het
Drg2 T C 11: 60,358,954 (GRCm39) V358A probably damaging Het
Eif4enif1 T A 11: 3,171,168 (GRCm39) W220R probably damaging Het
Enpp2 A T 15: 54,783,090 (GRCm39) I75K probably damaging Het
Fam110c T C 12: 31,125,238 (GRCm39) I400T probably damaging Het
Fam193b C A 13: 55,690,629 (GRCm39) R711L probably damaging Het
Fgfr1 T C 8: 26,053,462 (GRCm39) Y246H probably damaging Het
Frs3 G A 17: 48,013,997 (GRCm39) R230Q probably benign Het
Galnt5 A G 2: 57,889,425 (GRCm39) K342E probably benign Het
Glrb A T 3: 80,769,054 (GRCm39) L189Q probably damaging Het
Gmeb2 T C 2: 180,900,819 (GRCm39) T193A probably benign Het
Gnl3 A G 14: 30,736,120 (GRCm39) S307P probably damaging Het
Golim4 A T 3: 75,800,166 (GRCm39) F443I probably benign Het
Hivep2 C A 10: 14,004,713 (GRCm39) T437K probably benign Het
Klrc3 A T 6: 129,616,520 (GRCm39) W166R probably damaging Het
Kng2 A T 16: 22,807,065 (GRCm39) I378N probably benign Het
Map3k10 T C 7: 27,362,688 (GRCm39) K466R possibly damaging Het
Mrrf C T 2: 36,079,109 (GRCm39) T245M probably benign Het
Msi1 A G 5: 115,583,517 (GRCm39) Y239C probably damaging Het
Nfasc A G 1: 132,525,501 (GRCm39) probably null Het
Or1x6 T A 11: 50,939,300 (GRCm39) L122Q probably damaging Het
Or7g25 A T 9: 19,160,357 (GRCm39) C113S probably benign Het
P3r3urf A G 4: 116,030,791 (GRCm39) D65G probably benign Het
Pkd1l1 T C 11: 8,908,900 (GRCm39) E368G unknown Het
Polq G A 16: 36,909,687 (GRCm39) G2078D probably damaging Het
Ppfibp1 A C 6: 146,893,942 (GRCm39) I134L probably damaging Het
Rasip1 A T 7: 45,284,247 (GRCm39) I608F probably damaging Het
Ripk3 A T 14: 56,025,492 (GRCm39) V24E probably damaging Het
Rtkn T A 6: 83,124,526 (GRCm39) I110N probably damaging Het
Scn1a C T 2: 66,104,176 (GRCm39) V1695I probably damaging Het
Shank2 A G 7: 143,606,042 (GRCm39) N75S possibly damaging Het
Snu13 C A 15: 81,928,182 (GRCm39) A14S probably benign Het
Snx27 A C 3: 94,438,541 (GRCm39) D231E probably damaging Het
Spef2 A G 15: 9,725,283 (GRCm39) I158T possibly damaging Het
Sptb A G 12: 76,696,643 (GRCm39) I19T possibly damaging Het
Ssu72 T C 4: 155,817,970 (GRCm39) L175P probably damaging Het
Tcstv2a T A 13: 120,725,475 (GRCm39) C46* probably null Het
Tecr C T 8: 84,299,204 (GRCm39) V248I probably benign Het
Tnfrsf13b T G 11: 61,032,302 (GRCm39) S59A probably benign Het
Tom1l1 T C 11: 90,561,951 (GRCm39) T150A possibly damaging Het
Ubr3 A T 2: 69,766,362 (GRCm39) Y410F probably damaging Het
Vmn2r108 A G 17: 20,692,577 (GRCm39) I93T probably damaging Het
Vmn2r19 A G 6: 123,306,937 (GRCm39) T482A probably benign Het
Vstm4 T A 14: 32,585,664 (GRCm39) M77K probably benign Het
Zbtb17 C T 4: 141,191,896 (GRCm39) T309I probably damaging Het
Zfp957 T C 14: 79,451,494 (GRCm39) T102A 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
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
Predicted Primers PCR Primer
(F):5'- CTGGGGACAACTGTGCTAACAAG -3'
(R):5'- ACACAGCTGATGCCCAACTG -3'

Sequencing Primer
(F):5'- CAACTGTGCTAACAAGAGAGTTG -3'
(R):5'- GCTGATGCCCAACTGTGCAAC -3'
Posted On 2014-12-04