Incidental Mutation 'R4246:Tuft1'
ID 320412
Institutional Source Beutler Lab
Gene Symbol Tuft1
Ensembl Gene ENSMUSG00000005968
Gene Name tuftelin 1
Synonyms
MMRRC Submission 041062-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4246 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 94520064-94566179 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 94522108 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 319 (M319I)
Ref Sequence ENSEMBL: ENSMUSP00000143278 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006123] [ENSMUST00000196655] [ENSMUST00000196733]
AlphaFold O08970
Predicted Effect probably benign
Transcript: ENSMUST00000006123
AA Change: M344I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000006123
Gene: ENSMUSG00000005968
AA Change: M344I

DomainStartEndE-ValueType
coiled coil region 88 125 N/A INTRINSIC
coiled coil region 164 347 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000196655
AA Change: M289I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000142537
Gene: ENSMUSG00000005968
AA Change: M289I

DomainStartEndE-ValueType
coiled coil region 109 292 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000196733
AA Change: M319I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000143278
Gene: ENSMUSG00000005968
AA Change: M319I

DomainStartEndE-ValueType
coiled coil region 63 100 N/A INTRINSIC
coiled coil region 139 322 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198456
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency
MGI Phenotype FUNCTION: Tuftelin is an acidic protein that is thought to play a role in dental enamel mineralization and is implicated in caries susceptibility. It is also thought to be involved with adaptation to hypoxia, mesenchymal stem cell function, and neurotrophin nerve growth factor mediated neuronal differentiation. [provided by RefSeq, Aug 2014]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700062C07Rik A G 18: 24,606,013 (GRCm39) N36S possibly damaging Het
Ak1 A G 2: 32,523,384 (GRCm39) T151A possibly damaging Het
Asxl3 A G 18: 22,658,557 (GRCm39) D2189G probably damaging Het
Ccdc91 C T 6: 147,493,646 (GRCm39) A346V unknown Het
Dnah6 C T 6: 73,106,431 (GRCm39) E1769K probably benign Het
Dock6 A T 9: 21,750,786 (GRCm39) probably null Het
Fhod3 A G 18: 25,123,123 (GRCm39) K271R probably null Het
Glyatl3 T A 17: 41,220,989 (GRCm39) D126V probably benign Het
Gnal C G 18: 67,221,654 (GRCm39) P19R unknown Het
Igkv8-21 T A 6: 70,292,436 (GRCm39) M1L possibly damaging Het
Itih4 C A 14: 30,613,359 (GRCm39) H261N probably damaging Het
Jpt1 T C 11: 115,405,119 (GRCm39) probably benign Het
Kif14 G T 1: 136,401,126 (GRCm39) M492I possibly damaging Het
Klhl32 A C 4: 24,800,822 (GRCm39) S3A possibly damaging Het
Kmt2d C T 15: 98,737,970 (GRCm39) probably benign Het
Lamtor5 T C 3: 107,186,354 (GRCm39) V41A probably benign Het
Lmtk3 G A 7: 45,443,486 (GRCm39) C723Y possibly damaging Het
Lrfn1 G T 7: 28,159,367 (GRCm39) V429L probably benign Het
Mapkbp1 T A 2: 119,843,508 (GRCm39) I252N probably damaging Het
Nelfa A G 5: 34,056,373 (GRCm39) F464S probably damaging Het
Nipbl G A 15: 8,361,916 (GRCm39) L1454F probably damaging Het
Nr4a3 C T 4: 48,083,125 (GRCm39) P553S possibly damaging Het
Nrg3 G A 14: 39,194,198 (GRCm39) T187I possibly damaging Het
Or5m5 T A 2: 85,814,624 (GRCm39) C147S possibly damaging Het
Or8g36 A G 9: 39,422,899 (GRCm39) V39A probably benign Het
Pcdha8 A G 18: 37,125,950 (GRCm39) E144G probably damaging Het
Pik3cb T C 9: 98,983,229 (GRCm39) probably null Het
Pira1 C T 7: 3,740,348 (GRCm39) G291E probably damaging Het
Pkd1l1 C T 11: 8,815,543 (GRCm39) R1456K possibly damaging Het
Ppp1r3a T A 6: 14,719,780 (GRCm39) E378V probably damaging Het
Psd2 T C 18: 36,139,172 (GRCm39) L540P probably damaging Het
Rnf14 T A 18: 38,434,701 (GRCm39) probably null Het
Satl1 A G X: 111,316,033 (GRCm39) S141P probably benign Het
Setx GTGGCT GT 2: 29,044,073 (GRCm39) 1814 probably null Het
Sh3d19 G A 3: 86,033,995 (GRCm39) V783I probably benign Het
Snca T C 6: 60,710,149 (GRCm39) E110G possibly damaging Het
Sumf1 A C 6: 108,131,974 (GRCm39) V156G probably damaging Het
Trhr A T 15: 44,096,856 (GRCm39) probably null Het
Tsen2 A G 6: 115,524,785 (GRCm39) probably benign Het
Vill C A 9: 118,889,461 (GRCm39) N132K probably damaging Het
Wars2 T A 3: 99,123,904 (GRCm39) V255E probably damaging Het
Zcchc14 CTGATGGTGGTGGTGATGGTGGTGG CTGATGGTGGTGG 8: 122,331,031 (GRCm39) probably benign Het
Other mutations in Tuft1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00655:Tuft1 APN 3 94,530,091 (GRCm39) missense possibly damaging 0.96
IGL00816:Tuft1 APN 3 94,523,138 (GRCm39) missense probably damaging 0.99
IGL01339:Tuft1 APN 3 94,535,594 (GRCm39) missense probably damaging 0.99
IGL01364:Tuft1 APN 3 94,542,810 (GRCm39) splice site probably benign
IGL02012:Tuft1 APN 3 94,529,462 (GRCm39) unclassified probably benign
IGL02332:Tuft1 APN 3 94,523,075 (GRCm39) critical splice donor site probably null
IGL02400:Tuft1 APN 3 94,542,809 (GRCm39) splice site probably benign
IGL03155:Tuft1 APN 3 94,541,821 (GRCm39) missense possibly damaging 0.78
R4911:Tuft1 UTSW 3 94,542,750 (GRCm39) missense probably damaging 0.97
R5261:Tuft1 UTSW 3 94,546,712 (GRCm39) missense possibly damaging 0.83
R6622:Tuft1 UTSW 3 94,542,726 (GRCm39) missense probably damaging 1.00
R6639:Tuft1 UTSW 3 94,539,930 (GRCm39) missense probably benign
R6790:Tuft1 UTSW 3 94,535,537 (GRCm39) missense possibly damaging 0.92
R6986:Tuft1 UTSW 3 94,521,461 (GRCm39) missense probably damaging 1.00
R7944:Tuft1 UTSW 3 94,539,909 (GRCm39) missense probably benign 0.00
R8008:Tuft1 UTSW 3 94,521,440 (GRCm39) missense probably damaging 1.00
R8200:Tuft1 UTSW 3 94,523,977 (GRCm39) missense probably damaging 1.00
R8546:Tuft1 UTSW 3 94,529,420 (GRCm39) missense probably benign 0.08
R9232:Tuft1 UTSW 3 94,529,445 (GRCm39) missense probably benign 0.06
X0022:Tuft1 UTSW 3 94,542,735 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GACTGTTGAACTCAGATCGGG -3'
(R):5'- GCTGCATACAGGAAATACACG -3'

Sequencing Primer
(F):5'- CAGAAAGCTGGGTTTAAGTCTTCC -3'
(R):5'- GCTGCATACAGGAAATACACGTAGAC -3'
Posted On 2015-06-12