Incidental Mutation 'IGL02400:Tuft1'
ID291868
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 #IGL02400
Quality Score
Status
Chromosome3
Chromosomal Location94612757-94658872 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to C at 94635502 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000143473 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006123] [ENSMUST00000196496] [ENSMUST00000196655] [ENSMUST00000196733] [ENSMUST00000200407]
Predicted Effect probably benign
Transcript: ENSMUST00000006123
SMART Domains Protein: ENSMUSP00000006123
Gene: ENSMUSG00000005968

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 benign
Transcript: ENSMUST00000196655
SMART Domains Protein: ENSMUSP00000142537
Gene: ENSMUSG00000005968

DomainStartEndE-ValueType
coiled coil region 109 292 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000196733
SMART Domains Protein: ENSMUSP00000143278
Gene: ENSMUSG00000005968

DomainStartEndE-ValueType
coiled coil region 63 100 N/A INTRINSIC
coiled coil region 139 322 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000200407
SMART Domains Protein: ENSMUSP00000143473
Gene: ENSMUSG00000005968

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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610028H24Rik A G 10: 76,454,810 I128V possibly damaging Het
Arfgef3 G T 10: 18,646,257 Q674K probably damaging Het
Atp6v0a2 T A 5: 124,721,785 N851K probably benign Het
Chrna7 A G 7: 63,099,322 C471R probably damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Egflam T A 15: 7,247,053 K544M probably benign Het
Erbb3 A C 10: 128,579,524 N385K probably benign Het
Fancm A G 12: 65,113,815 R1388G probably damaging Het
Gm10720 C A 9: 3,016,900 probably null Het
Gm20489 A T X: 101,263,338 N328K possibly damaging Het
Gm5828 G T 1: 16,769,818 noncoding transcript Het
Gnaq T C 19: 16,316,128 Y145H probably damaging Het
Itgbl1 A G 14: 123,846,526 D148G probably damaging Het
Myc T G 15: 61,989,911 probably benign Het
Olfr1033 A T 2: 86,042,076 I254F probably benign Het
Olfr801 A G 10: 129,669,883 V212A probably damaging Het
Olfr975 A G 9: 39,950,339 V144A probably benign Het
Padi3 T G 4: 140,788,868 K567T probably benign Het
Pi4ka T C 16: 17,293,884 T1576A probably damaging Het
Pikfyve A G 1: 65,252,569 R1316G probably damaging Het
Ryr2 A G 13: 11,605,244 probably benign Het
Sash1 G A 10: 8,733,647 R713* probably null Het
Tmem214 G A 5: 30,872,746 A296T probably benign Het
Tnfsf4 T A 1: 161,395,705 C42S possibly damaging Het
Tpp1 A G 7: 105,747,031 I487T possibly damaging Het
Trim43a T A 9: 88,582,112 N25K probably benign Het
Usp46 T C 5: 74,037,052 H26R probably benign Het
Zfp560 A T 9: 20,350,600 I85N possibly 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
IGL01339:Tuft1 APN 3 94628287 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
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 On2015-04-16