Incidental Mutation 'IGL03155:Tuft1'
ID 411248
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tuft1
Ensembl Gene ENSMUSG00000005968
Gene Name tuftelin 1
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03155
Quality Score
Status
Chromosome 3
Chromosomal Location 94520064-94566179 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 94541821 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 61 (I61L)
Ref Sequence ENSEMBL: ENSMUSP00000143473 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006123] [ENSMUST00000196496] [ENSMUST00000196655] [ENSMUST00000196733] [ENSMUST00000200407]
AlphaFold O08970
Predicted Effect probably benign
Transcript: ENSMUST00000006123
AA Change: I120L

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000006123
Gene: ENSMUSG00000005968
AA Change: I120L

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
AA Change: I95L

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000143278
Gene: ENSMUSG00000005968
AA Change: I95L

DomainStartEndE-ValueType
coiled coil region 63 100 N/A INTRINSIC
coiled coil region 139 322 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000200407
AA Change: I61L

PolyPhen 2 Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000143473
Gene: ENSMUSG00000005968
AA Change: I61L

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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adra1d C T 2: 131,388,001 (GRCm39) R518H probably benign Het
Akr7a5 T A 4: 139,041,837 (GRCm39) C190* probably null Het
Cct2 A T 10: 116,896,576 (GRCm39) L209Q probably damaging Het
Chordc1 T A 9: 18,215,616 (GRCm39) S123T possibly damaging Het
Crtap T C 9: 114,209,117 (GRCm39) D309G possibly damaging Het
Csf2 T C 11: 54,138,497 (GRCm39) T115A possibly damaging Het
Dgkb T A 12: 38,189,458 (GRCm39) I287N probably damaging Het
Dyrk1b G A 7: 27,882,112 (GRCm39) D98N probably benign Het
Eif4g1 T C 16: 20,511,167 (GRCm39) S1550P probably damaging Het
Fam83e A G 7: 45,376,499 (GRCm39) E404G possibly damaging Het
Fryl G A 5: 73,234,038 (GRCm39) P1496S probably benign Het
Fsip1 A T 2: 118,082,220 (GRCm39) N71K probably benign Het
Gm5092 A T 17: 21,314,970 (GRCm39) noncoding transcript Het
Gnb1l T A 16: 18,359,282 (GRCm39) probably null Het
Got1l1 T C 8: 27,689,360 (GRCm39) Y233C probably damaging Het
Katnbl1 T A 2: 112,239,577 (GRCm39) probably null Het
Kcnn2 A G 18: 45,818,382 (GRCm39) E493G probably damaging Het
Kif26b C T 1: 178,701,693 (GRCm39) R691W probably damaging Het
Lrp2 A T 2: 69,285,796 (GRCm39) probably benign Het
Mast3 A G 8: 71,241,861 (GRCm39) S107P probably damaging Het
Mrc1 A G 2: 14,335,912 (GRCm39) N1433D probably benign Het
Mycbp2 G A 14: 103,392,889 (GRCm39) S3114L probably benign Het
Naip6 T A 13: 100,452,932 (GRCm39) H43L possibly damaging Het
Nin A T 12: 70,078,544 (GRCm39) C1681S probably damaging Het
Nnmt C T 9: 48,503,352 (GRCm39) V225M probably damaging Het
Or2ag1b A T 7: 106,288,446 (GRCm39) M164K probably damaging Het
Or4c125 A T 2: 89,170,310 (GRCm39) M112K probably damaging Het
Phf21a T G 2: 92,150,611 (GRCm39) V64G probably damaging Het
Ptprd A T 4: 75,984,456 (GRCm39) S800R possibly damaging Het
Scarf2 C T 16: 17,625,413 (GRCm39) P823S probably benign Het
Scn5a T C 9: 119,341,248 (GRCm39) T1212A possibly damaging Het
Slc38a10 C T 11: 119,995,945 (GRCm39) V1043I probably damaging Het
Stxbp5 A T 10: 9,692,034 (GRCm39) L370Q probably null Het
Tas1r2 T C 4: 139,396,467 (GRCm39) V602A possibly damaging Het
Tatdn1 T C 15: 58,788,045 (GRCm39) probably benign Het
Tdrd6 A T 17: 43,936,398 (GRCm39) L1550Q probably damaging Het
Tet3 G T 6: 83,345,365 (GRCm39) R1556S probably damaging Het
Tnpo2 T A 8: 85,771,709 (GRCm39) I249N probably benign Het
Tnxb G T 17: 34,932,569 (GRCm39) V2263F probably damaging Het
Trim75 C T 8: 65,435,992 (GRCm39) V153M possibly damaging Het
Ttc21a T A 9: 119,773,042 (GRCm39) probably null Het
Usp43 T C 11: 67,767,315 (GRCm39) D680G probably damaging Het
Vac14 A G 8: 111,362,975 (GRCm39) I274V possibly damaging Het
Vmn1r222 T A 13: 23,416,863 (GRCm39) R117W probably damaging Het
Vmn1r83 T C 7: 12,055,617 (GRCm39) M147V probably benign Het
Vmn2r43 T A 7: 8,258,068 (GRCm39) I382L possibly damaging Het
Vmn2r63 C T 7: 42,552,878 (GRCm39) V793I probably damaging Het
Vopp1 A G 6: 57,739,492 (GRCm39) Y19H possibly damaging Het
Yeats2 T C 16: 20,048,323 (GRCm39) probably null 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
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
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
Posted On 2016-08-02