Incidental Mutation 'R3945:Tigd3'
ID 307678
Institutional Source Beutler Lab
Gene Symbol Tigd3
Ensembl Gene ENSMUSG00000044390
Gene Name tigger transposable element derived 3
Synonyms
MMRRC Submission 040926-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.702) question?
Stock # R3945 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 5941166-5944156 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 5942461 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 223 (F223S)
Ref Sequence ENSEMBL: ENSMUSP00000059302 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055911] [ENSMUST00000118623] [ENSMUST00000136983]
AlphaFold Q7TM95
Predicted Effect probably benign
Transcript: ENSMUST00000025746
SMART Domains Protein: ENSMUSP00000025746
Gene: ENSMUSG00000024826

DomainStartEndE-ValueType
Pfam:Requiem_N 1 40 1.4e-19 PFAM
low complexity region 115 131 N/A INTRINSIC
low complexity region 134 152 N/A INTRINSIC
ZnF_C2H2 165 188 4.47e-3 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000055911
AA Change: F223S

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000059302
Gene: ENSMUSG00000044390
AA Change: F223S

DomainStartEndE-ValueType
Pfam:CENP-B_N 6 59 2.5e-15 PFAM
CENPB 73 137 2.96e-7 SMART
Pfam:DDE_1 192 360 7.4e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000118623
SMART Domains Protein: ENSMUSP00000113465
Gene: ENSMUSG00000024826

DomainStartEndE-ValueType
Pfam:Requiem_N 13 84 7.9e-40 PFAM
low complexity region 159 175 N/A INTRINSIC
low complexity region 178 196 N/A INTRINSIC
PDB:3IUF|A 203 263 1e-21 PDB
PHD 286 342 8.64e-9 SMART
RING 287 341 3.83e0 SMART
PHD 343 389 8.9e-11 SMART
RING 344 388 9.75e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000136983
SMART Domains Protein: ENSMUSP00000120125
Gene: ENSMUSG00000024826

DomainStartEndE-ValueType
Pfam:Requiem_N 12 85 6.2e-41 PFAM
low complexity region 159 175 N/A INTRINSIC
low complexity region 178 196 N/A INTRINSIC
ZnF_C2H2 209 232 4.47e-3 SMART
PHD 272 328 8.64e-9 SMART
RING 273 327 3.83e0 SMART
PHD 329 375 8.9e-11 SMART
RING 330 374 9.75e-1 SMART
Meta Mutation Damage Score 0.5861 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 100% (54/54)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the tigger subfamily of the pogo superfamily of DNA-mediated transposons in humans. These proteins are related to DNA transposons found in fungi and nematodes, and more distantly to the Tc1 and mariner transposases. They are also very similar to the major mammalian centromere protein B. The exact function of this gene is not known. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik T C 15: 81,949,601 (GRCm39) L1166P probably damaging Het
Actn4 T C 7: 28,611,661 (GRCm39) probably null Het
Adamts17 A T 7: 66,770,687 (GRCm39) E905V probably benign Het
Adck5 A G 15: 76,479,400 (GRCm39) N485S probably damaging Het
Agr3 C A 12: 35,997,512 (GRCm39) probably benign Het
Ankrd12 G A 17: 66,283,098 (GRCm39) T1921I probably damaging Het
Ascl2 T C 7: 142,521,708 (GRCm39) S247G probably benign Het
Atp7b T C 8: 22,510,880 (GRCm39) E422G probably benign Het
Bltp2 T C 11: 78,180,790 (GRCm39) I2229T probably damaging Het
C630050I24Rik C T 8: 107,845,894 (GRCm39) R15* probably null Het
Cabin1 T G 10: 75,581,093 (GRCm39) Q411P probably damaging Het
Chrne T C 11: 70,507,869 (GRCm39) I277V possibly damaging Het
Coch A G 12: 51,648,595 (GRCm39) probably null Het
Corin A G 5: 72,515,767 (GRCm39) V429A probably damaging Het
Cpa3 A T 3: 20,279,281 (GRCm39) N219K probably damaging Het
Creb3l1 T C 2: 91,821,556 (GRCm39) E273G probably damaging Het
Csmd1 A C 8: 15,960,619 (GRCm39) probably null Het
Ddx59 A G 1: 136,362,356 (GRCm39) D527G probably damaging Het
Defa25 G A 8: 21,574,506 (GRCm39) V17I probably null Het
Efs A G 14: 55,158,108 (GRCm39) probably benign Het
Ern2 A G 7: 121,775,753 (GRCm39) M447T probably benign Het
Fgfr2 C T 7: 129,779,485 (GRCm39) E596K possibly damaging Het
Filip1 T C 9: 79,725,649 (GRCm39) K990R probably benign Het
Ipo8 T A 6: 148,719,615 (GRCm39) Q110L probably damaging Het
Kank4 T A 4: 98,659,517 (GRCm39) I854F probably damaging Het
Mst1 G A 9: 107,962,052 (GRCm39) C681Y probably damaging Het
Nr2c2 C T 6: 92,140,119 (GRCm39) R464W probably damaging Het
Or1s2 A G 19: 13,758,786 (GRCm39) E270G probably benign Het
Or4f4b C T 2: 111,314,032 (GRCm39) Q86* probably null Het
Pde11a T C 2: 75,906,275 (GRCm39) probably benign Het
Ptprq A G 10: 107,522,253 (GRCm39) probably benign Het
Rcbtb1 G A 14: 59,462,225 (GRCm39) probably null Het
Rpl37 G A 15: 5,147,176 (GRCm39) R72H probably benign Het
Samd9l A T 6: 3,377,029 (GRCm39) S77R possibly damaging Het
Sin3b A G 8: 73,460,067 (GRCm39) D218G possibly damaging Het
Slc22a23 A G 13: 34,367,109 (GRCm39) I633T probably damaging Het
Spen T C 4: 141,204,664 (GRCm39) D1321G unknown Het
Ssh2 T C 11: 77,345,494 (GRCm39) S1160P possibly damaging Het
Synrg T A 11: 83,914,232 (GRCm39) D952E probably damaging Het
Trim66 G A 7: 109,071,475 (GRCm39) T608I possibly damaging Het
Trmt13 A G 3: 116,375,167 (GRCm39) F447S probably damaging Het
Trpc2 T C 7: 101,737,486 (GRCm39) I800T possibly damaging Het
Ugt3a1 A T 15: 9,370,184 (GRCm39) I443F possibly damaging Het
Vamp2 C A 11: 68,980,000 (GRCm39) P24Q unknown Het
Vmn1r113 A G 7: 20,521,637 (GRCm39) Y143C probably benign Het
Vmn1r14 T A 6: 57,211,254 (GRCm39) N277K probably benign Het
Vmn1r181 T A 7: 23,683,577 (GRCm39) V14E probably damaging Het
Wdfy4 A T 14: 32,688,352 (GRCm39) I3086N probably damaging Het
Zfp988 A C 4: 147,417,242 (GRCm39) K559Q probably benign Het
Other mutations in Tigd3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0456:Tigd3 UTSW 19 5,942,821 (GRCm39) missense probably damaging 1.00
R0699:Tigd3 UTSW 19 5,941,974 (GRCm39) missense probably benign
R1416:Tigd3 UTSW 19 5,941,753 (GRCm39) missense probably benign
R5945:Tigd3 UTSW 19 5,941,894 (GRCm39) missense probably benign
R6253:Tigd3 UTSW 19 5,942,870 (GRCm39) missense probably damaging 1.00
R7189:Tigd3 UTSW 19 5,943,050 (GRCm39) missense probably benign 0.09
R7956:Tigd3 UTSW 19 5,942,594 (GRCm39) missense possibly damaging 0.88
R8976:Tigd3 UTSW 19 5,941,853 (GRCm39) missense probably benign 0.00
R8979:Tigd3 UTSW 19 5,941,853 (GRCm39) missense probably benign 0.00
R9506:Tigd3 UTSW 19 5,942,860 (GRCm39) missense probably damaging 1.00
R9702:Tigd3 UTSW 19 5,942,836 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCGAACGTGATGGAGTCCAG -3'
(R):5'- AACAATGTGGGCTTTGGGAC -3'

Sequencing Primer
(F):5'- AGGAAGGCTGGCCCATTC -3'
(R):5'- TTTGGGACTCGCCAGGTC -3'
Posted On 2015-04-17