Incidental Mutation 'R6622:Tuft1'
ID 524499
Institutional Source Beutler Lab
Gene Symbol Tuft1
Ensembl Gene ENSMUSG00000005968
Gene Name tuftelin 1
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6622 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 94520064-94566179 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 94542726 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 46 (Y46F)
Ref Sequence ENSEMBL: ENSMUSP00000143473 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006123] [ENSMUST00000196496] [ENSMUST00000196655] [ENSMUST00000196733] [ENSMUST00000200407]
AlphaFold O08970
Predicted Effect probably damaging
Transcript: ENSMUST00000006123
AA Change: Y105F

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000006123
Gene: ENSMUSG00000005968
AA Change: Y105F

DomainStartEndE-ValueType
coiled coil region 88 125 N/A INTRINSIC
coiled coil region 164 347 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000196496
Predicted Effect probably damaging
Transcript: ENSMUST00000196655
AA Change: Y80F

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000142537
Gene: ENSMUSG00000005968
AA Change: Y80F

DomainStartEndE-ValueType
coiled coil region 109 292 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000196733
AA Change: Y80F

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000143278
Gene: ENSMUSG00000005968
AA Change: Y80F

DomainStartEndE-ValueType
coiled coil region 63 100 N/A INTRINSIC
coiled coil region 139 322 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000200407
AA Change: Y46F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000143473
Gene: ENSMUSG00000005968
AA Change: Y46F

DomainStartEndE-ValueType
coiled coil region 29 66 N/A INTRINSIC
coiled coil region 105 174 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.8%
  • 20x: 93.4%
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl3 A C 5: 81,942,606 (GRCm39) D1412A probably benign Het
Arhgap26 A G 18: 39,032,916 (GRCm39) probably benign Het
Card14 A G 11: 119,224,814 (GRCm39) M614V probably benign Het
Cbx2 A G 11: 118,919,961 (GRCm39) T509A probably damaging Het
Cep135 A G 5: 76,788,815 (GRCm39) D1136G probably benign Het
Cep170 T A 1: 176,583,898 (GRCm39) Q827L probably damaging Het
Clock A T 5: 76,389,801 (GRCm39) I349K probably damaging Het
Cnppd1 A T 1: 75,113,539 (GRCm39) V243E probably damaging Het
Cops3 A G 11: 59,723,960 (GRCm39) F93L probably damaging Het
Cplane1 C A 15: 8,273,706 (GRCm39) A2563D probably damaging Het
Cxxc5 T G 18: 35,992,372 (GRCm39) C258G possibly damaging Het
Cycs G A 6: 50,543,443 (GRCm39) probably benign Het
Cyp2c40 A T 19: 39,790,990 (GRCm39) H280Q probably damaging Het
Cyp4f14 C T 17: 33,133,619 (GRCm39) R79H probably benign Het
Dnajc27 A G 12: 4,153,114 (GRCm39) S197G probably benign Het
Dscam C T 16: 96,446,273 (GRCm39) G1456E probably benign Het
Dst G A 1: 34,218,332 (GRCm39) V1591I probably benign Het
Epha5 A G 5: 84,385,387 (GRCm39) S315P possibly damaging Het
Frmd4a A G 2: 4,610,873 (GRCm39) T1012A probably benign Het
Fxr2 G A 11: 69,532,416 (GRCm39) probably null Het
Hcn4 T A 9: 58,765,010 (GRCm39) V534E unknown Het
Hrh4 A G 18: 13,155,454 (GRCm39) Y331C probably damaging Het
Insyn1 A G 9: 58,406,533 (GRCm39) I148V probably benign Het
Kif16b T A 2: 142,554,362 (GRCm39) H812L probably benign Het
Krt14 T A 11: 100,094,786 (GRCm39) R451S probably benign Het
Man2b1 A G 8: 85,811,108 (GRCm39) T80A probably damaging Het
Nedd4l A G 18: 65,307,305 (GRCm39) T383A probably damaging Het
Pcdha9 T A 18: 37,131,707 (GRCm39) L259M possibly damaging Het
Pdgfd T C 9: 6,293,818 (GRCm39) C131R probably damaging Het
Prrc2a C G 17: 35,374,396 (GRCm39) R1418P probably damaging Het
Ptpra G T 2: 30,327,589 (GRCm39) E114D probably damaging Het
Ptprt A T 2: 161,395,760 (GRCm39) C1157S probably damaging Het
Rnf126 A T 10: 79,597,397 (GRCm39) probably null Het
Rsf1 G A 7: 97,229,117 (GRCm39) probably benign Het
Sel1l3 A G 5: 53,297,202 (GRCm39) V748A probably damaging Het
Serinc5 T A 13: 92,825,194 (GRCm39) S208T probably benign Het
Sftpb A G 6: 72,282,639 (GRCm39) I74V possibly damaging Het
Slc22a14 A C 9: 118,999,643 (GRCm39) I516S possibly damaging Het
Slco2a1 G A 9: 102,951,704 (GRCm39) C411Y possibly damaging Het
Spata31f1e T A 4: 42,793,111 (GRCm39) L340F probably damaging Het
Tent5a G T 9: 85,208,509 (GRCm39) R105S probably damaging Het
Tet3 G A 6: 83,380,426 (GRCm39) P581S probably benign Het
Tmem231 T C 8: 112,645,563 (GRCm39) D112G probably damaging Het
Tnrc6b T A 15: 80,763,385 (GRCm39) W296R probably damaging Het
Trpm1 T A 7: 63,890,343 (GRCm39) L982H probably damaging Het
Ttn C A 2: 76,550,862 (GRCm39) R23183I possibly damaging Het
Vmn1r167 T A 7: 23,205,014 (GRCm39) M1L probably null Het
Zfp808 A G 13: 62,319,646 (GRCm39) R292G possibly damaging Het
Zp2 T C 7: 119,731,748 (GRCm39) E669G probably benign Het
Zp2 C T 7: 119,741,136 (GRCm39) M129I 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
R4246:Tuft1 UTSW 3 94,522,108 (GRCm39) missense probably benign 0.00
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
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'- TTACAACCAAACAGATGACAGAGTG -3'
(R):5'- TCTGCTAAGCTGAATCACCAG -3'

Sequencing Primer
(F):5'- ACCCAGTTGGCATAGAGTTC -3'
(R):5'- CCAGATAGTCACCTGGTGAGTTC -3'
Posted On 2018-06-22