Incidental Mutation 'IGL01339:Tuft1'
ID74737
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tuft1
Ensembl Gene ENSMUSG00000005968
Gene Nametuftelin 1
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01339
Quality Score
Status
Chromosome3
Chromosomal Location94612757-94658872 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 94628287 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 109 (D109E)
Ref Sequence ENSEMBL: ENSMUSP00000143473 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006123] [ENSMUST00000196655] [ENSMUST00000196733] [ENSMUST00000200407]
Predicted Effect probably benign
Transcript: ENSMUST00000006123
AA Change: D168E

PolyPhen 2 Score 0.414 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000006123
Gene: ENSMUSG00000005968
AA Change: D168E

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: D113E

PolyPhen 2 Score 0.414 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000142537
Gene: ENSMUSG00000005968
AA Change: D113E

DomainStartEndE-ValueType
coiled coil region 109 292 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000196733
AA Change: D143E

PolyPhen 2 Score 0.414 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000143278
Gene: ENSMUSG00000005968
AA Change: D143E

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: D109E

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000143473
Gene: ENSMUSG00000005968
AA Change: D109E

DomainStartEndE-ValueType
coiled coil region 29 66 N/A INTRINSIC
coiled coil region 105 174 N/A INTRINSIC
Coding Region Coverage
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bahcc1 A G 11: 120,289,512 T2565A probably damaging Het
C8a A C 4: 104,827,985 F354V probably benign Het
Cadps C T 14: 12,486,543 V876M possibly damaging Het
Chmp7 A T 14: 69,719,406 I351N probably damaging Het
Clec7a A T 6: 129,465,486 W193R probably damaging Het
Clint1 T C 11: 45,909,019 V535A probably benign Het
Clu A G 14: 65,975,588 E141G probably damaging Het
Cmah A T 13: 24,430,549 D159V probably damaging Het
Cntn2 A T 1: 132,518,905 probably null Het
Cox6a1 C A 5: 115,345,839 probably benign Het
Cyp2d10 C T 15: 82,403,841 A195T probably benign Het
Dnah10 G T 5: 124,777,212 K1901N probably damaging Het
Dopey1 G A 9: 86,551,677 D2329N possibly damaging Het
Eipr1 A G 12: 28,864,771 E308G probably damaging Het
Exoc4 T C 6: 33,305,400 probably benign Het
Fancd2 A G 6: 113,553,752 I449V probably benign Het
Fbn2 T C 18: 58,113,370 T487A possibly damaging Het
Fbxo40 T C 16: 36,970,454 E98G probably damaging Het
Folh1 G A 7: 86,726,098 T527I probably damaging Het
Gls C T 1: 52,188,708 D217N probably damaging Het
Gm6994 A G 14: 77,481,178 probably benign Het
Gpr149 A T 3: 62,604,297 W94R probably damaging Het
Gpr158 A G 2: 21,369,031 D259G possibly damaging Het
Hcn2 T C 10: 79,729,068 L438P probably damaging Het
Hgd A C 16: 37,631,730 T374P possibly damaging Het
Ints3 A G 3: 90,415,156 probably null Het
Kctd5 A T 17: 24,057,775 V172E probably damaging Het
Lmcd1 A G 6: 112,310,625 I91V probably benign Het
Lrrc37a A G 11: 103,497,937 S2221P unknown Het
Ltk T A 2: 119,752,974 D310V probably damaging Het
Luzp1 T A 4: 136,542,776 M770K probably damaging Het
Mxd4 G A 5: 34,184,346 probably benign Het
Mzb1 T A 18: 35,648,346 H71L probably benign Het
Necap2 G A 4: 141,074,965 T63I probably benign Het
Nefl A G 14: 68,086,482 probably benign Het
Odam G A 5: 87,885,896 probably null Het
Pcdh18 A G 3: 49,755,798 I356T probably benign Het
Pcx T A 19: 4,620,235 probably null Het
Pde2a T C 7: 101,507,159 S593P probably benign Het
Rapgef3 A T 15: 97,758,059 L359M probably damaging Het
Rb1 T C 14: 73,264,371 probably null Het
Rbm44 A G 1: 91,168,964 I976V probably benign Het
Rdh13 A T 7: 4,427,624 S278R probably damaging Het
Rgma A G 7: 73,417,483 E256G probably damaging Het
Rnf112 A T 11: 61,450,477 D402E probably benign Het
Rnps1 T A 17: 24,422,299 D224E probably damaging Het
Scn10a C T 9: 119,622,766 V1364M probably damaging Het
Scn1a C T 2: 66,325,960 R535H probably benign Het
Scn8a A T 15: 101,032,201 D1431V probably benign Het
Setdb1 A T 3: 95,338,580 L677* probably null Het
Slc17a8 T A 10: 89,591,244 I148F probably damaging Het
Slx4ip T A 2: 137,044,055 C98* probably null Het
Sptbn2 T G 19: 4,745,972 Y1726* probably null Het
Tcof1 T C 18: 60,818,095 probably benign Het
Tdrd3 G A 14: 87,480,794 V210I possibly damaging Het
Tdrd9 G A 12: 112,040,434 V911M probably damaging Het
Tmod4 G A 3: 95,128,297 R252H probably benign Het
Tti1 G T 2: 158,009,130 P63Q possibly damaging Het
Wdr63 T C 3: 146,042,836 Y841C probably benign Het
Zcchc2 T C 1: 106,029,775 S659P probably damaging Het
Other mutations in Tuft1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00655:Tuft1 APN 3 94622784 missense possibly damaging 0.96
IGL00816:Tuft1 APN 3 94615831 missense probably damaging 0.99
IGL01364:Tuft1 APN 3 94635503 splice site probably benign
IGL02012:Tuft1 APN 3 94622155 unclassified probably benign
IGL02332:Tuft1 APN 3 94615768 critical splice donor site probably null
IGL02400:Tuft1 APN 3 94635502 splice site probably benign
IGL03155:Tuft1 APN 3 94634514 missense possibly damaging 0.78
R4246:Tuft1 UTSW 3 94614801 missense probably benign 0.00
R4911:Tuft1 UTSW 3 94635443 missense probably damaging 0.97
R5261:Tuft1 UTSW 3 94639405 missense possibly damaging 0.83
R6622:Tuft1 UTSW 3 94635419 missense probably damaging 1.00
R6639:Tuft1 UTSW 3 94632623 missense probably benign
R6790:Tuft1 UTSW 3 94628230 missense possibly damaging 0.92
R6986:Tuft1 UTSW 3 94614154 missense probably damaging 1.00
R8008:Tuft1 UTSW 3 94614133 missense probably damaging 1.00
X0022:Tuft1 UTSW 3 94635428 missense probably damaging 1.00
Posted On2013-10-07