Incidental Mutation 'R8546:Tuft1'
ID 659619
Institutional Source Beutler Lab
Gene Symbol Tuft1
Ensembl Gene ENSMUSG00000005968
Gene Name tuftelin 1
Synonyms
MMRRC Submission 068511-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8546 (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 94529420 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 227 (E227D)
Ref Sequence ENSEMBL: ENSMUSP00000143278 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006123] [ENSMUST00000196655] [ENSMUST00000196733] [ENSMUST00000200407]
AlphaFold O08970
Predicted Effect probably benign
Transcript: ENSMUST00000006123
AA Change: E252D

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000006123
Gene: ENSMUSG00000005968
AA Change: E252D

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: E197D

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000142537
Gene: ENSMUSG00000005968
AA Change: E197D

DomainStartEndE-ValueType
coiled coil region 109 292 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000196733
AA Change: E227D

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000143278
Gene: ENSMUSG00000005968
AA Change: E227D

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
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot1 T C 12: 84,064,139 (GRCm39) S416P probably benign Het
Adcy9 G T 16: 4,236,769 (GRCm39) A214E probably benign Het
Atp11a T A 8: 12,901,083 (GRCm39) W971R probably damaging Het
Axl C T 7: 25,473,588 (GRCm39) R346H probably benign Het
Bltp3b A G 10: 89,630,397 (GRCm39) N399S probably damaging Het
Bsn G A 9: 107,988,651 (GRCm39) A2367V probably benign Het
Cabin1 T C 10: 75,578,101 (GRCm39) D532G probably damaging Het
Cdh20 A G 1: 104,861,769 (GRCm39) probably benign Het
Cfap97d1 A G 11: 101,881,687 (GRCm39) R77G probably damaging Het
Clca3b T A 3: 144,533,158 (GRCm39) S625C probably damaging Het
Col3a1 G A 1: 45,380,099 (GRCm39) probably benign Het
Ctu2 T C 8: 123,206,102 (GRCm39) L281P probably damaging Het
Cyb5a G A 18: 84,889,759 (GRCm39) probably null Het
Cyb5rl T A 4: 106,925,923 (GRCm39) V35D probably damaging Het
Dnah17 A G 11: 118,015,101 (GRCm39) F381S probably benign Het
Eif3a A T 19: 60,755,208 (GRCm39) N991K unknown Het
Eif6 A G 2: 155,668,420 (GRCm39) probably benign Het
Fahd1 T C 17: 25,069,057 (GRCm39) M7V possibly damaging Het
Fam171b A G 2: 83,685,795 (GRCm39) T160A probably damaging Het
Fnip1 A G 11: 54,400,826 (GRCm39) E1075G probably benign Het
Fras1 G A 5: 96,857,825 (GRCm39) V2040I probably benign Het
Gjc2 G T 11: 59,067,182 (GRCm39) D433E unknown Het
H2bc13 G A 13: 21,900,042 (GRCm39) T91M probably damaging Het
Igsf9b T C 9: 27,244,426 (GRCm39) S794P possibly damaging Het
Irx6 A T 8: 93,405,264 (GRCm39) R377S probably benign Het
Khnyn A G 14: 56,123,275 (GRCm39) T10A probably benign Het
Kmt2e A T 5: 23,686,242 (GRCm39) H389L probably damaging Het
Lin7c A G 2: 109,726,716 (GRCm39) I122V probably null Het
Lonp1 G A 17: 56,933,702 (GRCm39) P58S probably benign Het
Loxl4 T C 19: 42,596,027 (GRCm39) H142R probably benign Het
Mcm6 C T 1: 128,273,685 (GRCm39) E382K possibly damaging Het
Mettl2 T A 11: 105,022,399 (GRCm39) N196K probably benign Het
Myo7b T C 18: 32,123,201 (GRCm39) E712G probably benign Het
Ncam2 C T 16: 81,314,419 (GRCm39) T465I probably benign Het
Or7e169 T A 9: 19,757,685 (GRCm39) T77S probably damaging Het
Padi4 T C 4: 140,484,841 (GRCm39) E340G probably damaging Het
Patj T A 4: 98,325,634 (GRCm39) S490R probably benign Het
Pkd1l3 G A 8: 110,393,615 (GRCm39) S1981N possibly damaging Het
Poll T A 19: 45,546,416 (GRCm39) D208V probably damaging Het
Polr3f A G 2: 144,374,284 (GRCm39) D64G probably damaging Het
Prkdc A G 16: 15,480,899 (GRCm39) Y340C probably damaging Het
Prmt6 C T 3: 110,158,034 (GRCm39) R85Q possibly damaging Het
Rgl3 T C 9: 21,899,156 (GRCm39) K140R probably benign Het
Rhoj A G 12: 75,422,124 (GRCm39) T61A probably benign Het
Skor1 T C 9: 63,049,570 (GRCm39) D795G probably damaging Het
Slc28a2b A T 2: 122,353,235 (GRCm39) M472L probably benign Het
Tekt5 A G 16: 10,175,877 (GRCm39) V556A probably benign Het
Tlr1 T A 5: 65,084,374 (GRCm39) I68F probably damaging Het
Tnni3k G T 3: 154,498,444 (GRCm39) N798K probably benign Het
Tulp1 T C 17: 28,582,710 (GRCm39) K146R probably benign Het
Usp24 G A 4: 106,259,326 (GRCm39) A1616T probably benign Het
Ythdc1 A T 5: 86,974,607 (GRCm39) K452N possibly damaging Het
Zscan4-ps3 T A 7: 11,346,697 (GRCm39) H244Q possibly damaging 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
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
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'- TCTGAAGAGTCTCTGGCTGG -3'
(R):5'- TGAGAGTGGGAAGGGCTATTCC -3'

Sequencing Primer
(F):5'- TCCACAAGCACACTGAGTTAG -3'
(R):5'- CCTGACAGGGGAGGCCG -3'
Posted On 2021-01-18