Incidental Mutation 'IGL02332:Tuft1'
ID288756
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 #IGL02332
Quality Score
Status
Chromosome3
Chromosomal Location94612757-94658872 bp(-) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to C at 94615768 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000143278 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006123] [ENSMUST00000196655] [ENSMUST00000196733]
Predicted Effect probably null
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 null
Transcript: ENSMUST00000196655
SMART Domains Protein: ENSMUSP00000142537
Gene: ENSMUSG00000005968

DomainStartEndE-ValueType
coiled coil region 109 292 N/A INTRINSIC
Predicted Effect probably null
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 noncoding transcript
Transcript: ENSMUST00000198456
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700018B24Rik A G 3: 48,608,888 noncoding transcript Het
Abca13 A T 11: 9,291,482 Y1115F probably damaging Het
Adam29 T A 8: 55,871,740 I560F probably damaging Het
Bivm T C 1: 44,128,720 probably benign Het
Brinp1 C A 4: 68,904,884 R24L probably benign Het
Cnga1 A G 5: 72,604,486 Y562H probably damaging Het
Cr2 C A 1: 195,160,322 Q256H probably benign Het
Dhcr7 A T 7: 143,843,128 N119I probably damaging Het
Dio1 A T 4: 107,293,781 Y169N probably damaging Het
Dmbt1 C T 7: 131,066,613 probably benign Het
Eogt T G 6: 97,125,605 H249P probably damaging Het
Ermard A C 17: 14,990,545 probably null Het
Exoc4 T C 6: 33,249,240 probably null Het
Fxr2 G T 11: 69,649,838 probably null Het
Glyr1 G T 16: 5,018,953 T443N probably damaging Het
Gm14137 T G 2: 119,175,326 L122R probably damaging Het
Gm4845 C A 1: 141,256,597 noncoding transcript Het
Gm8258 A G 5: 104,775,902 noncoding transcript Het
Gmps G A 3: 63,990,569 R258H probably benign Het
Itga6 T G 2: 71,838,373 L552R possibly damaging Het
Itgam T A 7: 128,085,674 probably null Het
Itgb5 G T 16: 33,920,130 E224* probably null Het
Itih4 C A 14: 30,887,860 A49D probably damaging Het
Itpr2 A T 6: 146,426,542 N64K probably damaging Het
Moap1 T C 12: 102,742,807 Y161C probably benign Het
Mst1r G T 9: 107,907,826 G228* probably null Het
Myo1g T C 11: 6,520,766 D30G possibly damaging Het
Ndn T A 7: 62,348,825 C140S probably damaging Het
Nek5 G T 8: 22,095,261 Q367K probably benign Het
Nrd1 A T 4: 109,000,988 R52S probably damaging Het
Nup133 A T 8: 123,907,832 L1007Q probably damaging Het
Olfr1105 T C 2: 87,034,212 D3G probably benign Het
Olfr633 T C 7: 103,946,920 M118T probably damaging Het
Olfr74 A T 2: 87,974,065 L200Q probably damaging Het
P2rx2 T C 5: 110,341,805 S116G probably benign Het
Pcdhb13 G A 18: 37,443,582 V338M probably benign Het
Pdcl2 A T 5: 76,319,135 Y70* probably null Het
Ppm1e T C 11: 87,231,742 H463R probably benign Het
Ppm1f T A 16: 16,914,087 C134S possibly damaging Het
Ppp2r3a A G 9: 101,180,403 F180L possibly damaging Het
Pxn A G 5: 115,544,926 S96G probably benign Het
Rasa4 G T 5: 136,095,599 Q167H probably benign Het
Rfx8 T C 1: 39,718,480 I43V possibly damaging Het
Sez6 C T 11: 77,954,742 probably benign Het
Slc39a6 A T 18: 24,589,823 D473E probably benign Het
Spocd1 A G 4: 129,949,092 D68G probably damaging Het
Syt13 T C 2: 92,940,804 F79L probably benign Het
Tas2r103 A T 6: 133,036,512 M197K probably benign Het
Tbrg4 A G 11: 6,618,492 V429A probably damaging Het
Uqcrc1 A G 9: 108,947,869 T80A probably damaging Het
Vps18 A G 2: 119,293,810 N406S probably benign Het
Xrn2 T A 2: 147,026,590 W188R probably damaging Het
Zzef1 T G 11: 72,916,509 S2738A probably benign 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
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 On2015-04-16