Incidental Mutation 'R5291:Tdrd3'
ID 405165
Institutional Source Beutler Lab
Gene Symbol Tdrd3
Ensembl Gene ENSMUSG00000022019
Gene Name tudor domain containing 3
Synonyms 4732418C03Rik
MMRRC Submission 042874-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.429) question?
Stock # R5291 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 87654075-87782940 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 87743234 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 394 (H394L)
Ref Sequence ENSEMBL: ENSMUSP00000131542 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000168275] [ENSMUST00000169504] [ENSMUST00000170865]
AlphaFold Q91W18
Predicted Effect probably benign
Transcript: ENSMUST00000168275
AA Change: H394L

PolyPhen 2 Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000129019
Gene: ENSMUSG00000022019
AA Change: H394L

DomainStartEndE-ValueType
DUF1767 6 88 4.85e-24 SMART
low complexity region 269 280 N/A INTRINSIC
UBA 288 325 1.67e-7 SMART
low complexity region 338 348 N/A INTRINSIC
low complexity region 446 460 N/A INTRINSIC
TUDOR 646 705 1.07e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000169504
AA Change: H394L

PolyPhen 2 Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000131542
Gene: ENSMUSG00000022019
AA Change: H394L

DomainStartEndE-ValueType
DUF1767 6 88 4.85e-24 SMART
low complexity region 269 280 N/A INTRINSIC
UBA 288 325 1.67e-7 SMART
low complexity region 338 348 N/A INTRINSIC
low complexity region 446 460 N/A INTRINSIC
TUDOR 646 705 1.07e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000170865
AA Change: H388L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000126189
Gene: ENSMUSG00000022019
AA Change: H388L

DomainStartEndE-ValueType
DUF1767 3 82 1.36e-18 SMART
low complexity region 263 274 N/A INTRINSIC
UBA 282 319 1.67e-7 SMART
low complexity region 332 342 N/A INTRINSIC
low complexity region 440 454 N/A INTRINSIC
TUDOR 640 699 1.07e-7 SMART
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous mice for a hypomorphic allele show increased genomic instability, and increased c-Myc/Igh translocation and R loop formation in B cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931414P19Rik T C 14: 54,823,394 (GRCm39) S328G probably damaging Het
Acot5 T G 12: 84,120,293 (GRCm39) L216R probably benign Het
Ankrd6 A G 4: 32,823,446 (GRCm39) L192P probably damaging Het
Atp6v1e1 C A 6: 120,795,294 (GRCm39) probably null Het
Bbs9 T C 9: 22,540,293 (GRCm39) Y358H probably damaging Het
Bend7 G A 2: 4,768,052 (GRCm39) R336Q probably damaging Het
Camk2a A G 18: 61,090,236 (GRCm39) K192R probably damaging Het
Ceacam1 T A 7: 25,171,256 (GRCm39) R223W probably damaging Het
Cntn6 T A 6: 104,703,096 (GRCm39) F173I probably damaging Het
Cntrl A C 2: 35,024,072 (GRCm39) I33L probably damaging Het
Crybg2 T C 4: 133,800,738 (GRCm39) S633P probably benign Het
Cyp2j13 T C 4: 95,956,566 (GRCm39) H181R probably damaging Het
Dlgap1 A G 17: 71,025,205 (GRCm39) S542G probably benign Het
Dnm2 T G 9: 21,390,203 (GRCm39) L402R probably damaging Het
Fndc3b C A 3: 27,697,144 (GRCm39) V23L probably benign Het
Gata4 A C 14: 63,478,048 (GRCm39) F184V probably damaging Het
Gcnt2 A G 13: 41,072,268 (GRCm39) R304G probably damaging Het
Gm10563 TTTC TTTCCTTC 4: 155,698,969 (GRCm39) probably benign Het
Gm26558 G A 2: 70,491,873 (GRCm39) probably benign Het
Grip1 G A 10: 119,922,874 (GRCm39) V1107I probably benign Het
Herpud2 C T 9: 25,036,256 (GRCm39) G135S probably benign Het
Lrp1 A G 10: 127,429,747 (GRCm39) I441T probably damaging Het
Lrp1b T C 2: 40,793,015 (GRCm39) D2553G probably damaging Het
Mkln1 T A 6: 31,467,416 (GRCm39) N43K possibly damaging Het
Or4c12 A T 2: 89,773,780 (GRCm39) Y226* probably null Het
Or5k17 T C 16: 58,746,764 (GRCm39) T57A possibly damaging Het
Paxbp1 C T 16: 90,841,240 (GRCm39) M1I probably null Het
Phip A G 9: 82,827,936 (GRCm39) Y97H probably damaging Het
Plec T A 15: 76,058,211 (GRCm39) I3774F probably damaging Het
Pramel11 G T 4: 143,622,237 (GRCm39) P373T probably damaging Het
Prrc2c C A 1: 162,533,151 (GRCm39) probably benign Het
Prss12 T C 3: 123,299,112 (GRCm39) L628P probably damaging Het
Ptpre G A 7: 135,280,030 (GRCm39) V578I probably benign Het
Qsox2 A T 2: 26,107,710 (GRCm39) L261H probably damaging Het
Rapgef2 A T 3: 78,977,366 (GRCm39) V1327E possibly damaging Het
Rnf216 A G 5: 143,075,967 (GRCm39) S306P probably benign Het
Rtel1 A G 2: 180,993,888 (GRCm39) Q640R possibly damaging Het
Ryr1 T A 7: 28,815,023 (GRCm39) D175V probably benign Het
Scarf1 T C 11: 75,414,900 (GRCm39) S525P probably damaging Het
Senp7 T A 16: 56,006,542 (GRCm39) Y982* probably null Het
Slc35b2 T C 17: 45,877,424 (GRCm39) Y184H probably damaging Het
Sned1 A G 1: 93,223,446 (GRCm39) K1375E possibly damaging Het
Spats2 G T 15: 99,076,422 (GRCm39) A167S probably benign Het
Spen C A 4: 141,215,390 (GRCm39) A481S unknown Het
Spred3 T A 7: 28,867,255 (GRCm39) H47L probably damaging Het
Srsf4 T A 4: 131,613,617 (GRCm39) probably benign Het
Terf1 A G 1: 15,889,310 (GRCm39) probably null Het
Txlnb A T 10: 17,675,144 (GRCm39) D99V possibly damaging Het
Ugt1a7c A T 1: 88,023,231 (GRCm39) N130I possibly damaging Het
Vmn2r50 T A 7: 9,781,752 (GRCm39) D331V probably damaging Het
Vps13d A G 4: 144,789,139 (GRCm39) I744T probably damaging Het
Ythdc1 A G 5: 86,983,547 (GRCm39) D664G probably damaging Het
Other mutations in Tdrd3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01019:Tdrd3 APN 14 87,709,618 (GRCm39) missense probably damaging 1.00
IGL01339:Tdrd3 APN 14 87,718,230 (GRCm39) missense possibly damaging 0.75
IGL01565:Tdrd3 APN 14 87,709,668 (GRCm39) missense probably benign 0.01
IGL02505:Tdrd3 APN 14 87,749,118 (GRCm39) missense probably damaging 1.00
R0121:Tdrd3 UTSW 14 87,776,915 (GRCm39) missense probably damaging 1.00
R0550:Tdrd3 UTSW 14 87,723,656 (GRCm39) missense probably damaging 1.00
R0648:Tdrd3 UTSW 14 87,709,618 (GRCm39) missense probably damaging 1.00
R1080:Tdrd3 UTSW 14 87,743,834 (GRCm39) missense probably benign 0.00
R1099:Tdrd3 UTSW 14 87,724,675 (GRCm39) missense probably damaging 1.00
R1126:Tdrd3 UTSW 14 87,718,210 (GRCm39) missense probably damaging 1.00
R1370:Tdrd3 UTSW 14 87,695,490 (GRCm39) intron probably benign
R1592:Tdrd3 UTSW 14 87,743,322 (GRCm39) missense probably damaging 1.00
R1881:Tdrd3 UTSW 14 87,723,783 (GRCm39) splice site probably null
R2096:Tdrd3 UTSW 14 87,743,788 (GRCm39) nonsense probably null
R2162:Tdrd3 UTSW 14 87,718,221 (GRCm39) missense probably damaging 0.98
R3833:Tdrd3 UTSW 14 87,718,221 (GRCm39) missense probably damaging 0.98
R3947:Tdrd3 UTSW 14 87,744,035 (GRCm39) missense probably damaging 1.00
R4421:Tdrd3 UTSW 14 87,723,719 (GRCm39) missense probably damaging 1.00
R4783:Tdrd3 UTSW 14 87,709,537 (GRCm39) missense probably damaging 1.00
R4957:Tdrd3 UTSW 14 87,743,223 (GRCm39) missense probably benign 0.06
R5212:Tdrd3 UTSW 14 87,743,651 (GRCm39) missense probably damaging 0.98
R5318:Tdrd3 UTSW 14 87,714,899 (GRCm39) critical splice donor site probably null
R5383:Tdrd3 UTSW 14 87,718,227 (GRCm39) nonsense probably null
R5718:Tdrd3 UTSW 14 87,743,876 (GRCm39) missense probably benign 0.05
R6240:Tdrd3 UTSW 14 87,743,322 (GRCm39) missense probably damaging 1.00
R6292:Tdrd3 UTSW 14 87,743,690 (GRCm39) missense probably benign
R6532:Tdrd3 UTSW 14 87,743,252 (GRCm39) missense probably damaging 0.98
R6850:Tdrd3 UTSW 14 87,695,515 (GRCm39) intron probably benign
R6958:Tdrd3 UTSW 14 87,694,532 (GRCm39) missense probably damaging 1.00
R7224:Tdrd3 UTSW 14 87,714,839 (GRCm39) missense probably damaging 1.00
R7240:Tdrd3 UTSW 14 87,696,239 (GRCm39) missense probably benign 0.06
R7565:Tdrd3 UTSW 14 87,744,029 (GRCm39) nonsense probably null
R7818:Tdrd3 UTSW 14 87,709,636 (GRCm39) missense probably damaging 1.00
R7861:Tdrd3 UTSW 14 87,709,590 (GRCm39) missense probably damaging 1.00
R8108:Tdrd3 UTSW 14 87,723,702 (GRCm39) missense possibly damaging 0.95
R8206:Tdrd3 UTSW 14 87,749,214 (GRCm39) missense probably benign 0.11
R8383:Tdrd3 UTSW 14 87,743,744 (GRCm39) missense probably benign 0.26
R8786:Tdrd3 UTSW 14 87,709,637 (GRCm39) nonsense probably null
R8985:Tdrd3 UTSW 14 87,743,597 (GRCm39) missense possibly damaging 0.69
R9081:Tdrd3 UTSW 14 87,743,717 (GRCm39) missense probably benign 0.00
R9520:Tdrd3 UTSW 14 87,724,696 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AACTAGAACTCAGAGGATGCTG -3'
(R):5'- TGCCCATACATCAGAACCTGAG -3'

Sequencing Primer
(F):5'- TCAGAGGATGCTGAGAGGTAAG -3'
(R):5'- TGAGGAACTACTCGGCCTTTCG -3'
Posted On 2016-07-22