Incidental Mutation 'R2162:Tdrd3'
ID 235227
Institutional Source Beutler Lab
Gene Symbol Tdrd3
Ensembl Gene ENSMUSG00000022019
Gene Name tudor domain containing 3
Synonyms 4732418C03Rik
MMRRC Submission 040165-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.429) question?
Stock # R2162 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 87654075-87782940 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 87718221 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 201 (T201A)
Ref Sequence ENSEMBL: ENSMUSP00000126189 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000163714] [ENSMUST00000168275] [ENSMUST00000169504] [ENSMUST00000170865]
AlphaFold Q91W18
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163714
SMART Domains Protein: ENSMUSP00000128074
Gene: ENSMUSG00000022019

DomainStartEndE-ValueType
PDB:3NBI|A 1 74 2e-10 PDB
low complexity region 176 187 N/A INTRINSIC
UBA 195 232 1.67e-7 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000168275
AA Change: T207A

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000129019
Gene: ENSMUSG00000022019
AA Change: T207A

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 damaging
Transcript: ENSMUST00000169504
AA Change: T207A

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000131542
Gene: ENSMUSG00000022019
AA Change: T207A

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 unknown
Transcript: ENSMUST00000170712
AA Change: T195A
SMART Domains Protein: ENSMUSP00000126212
Gene: ENSMUSG00000022019
AA Change: T195A

DomainStartEndE-ValueType
DUF1767 19 77 4.37e-8 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000170865
AA Change: T201A

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000126189
Gene: ENSMUSG00000022019
AA Change: T201A

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
Meta Mutation Damage Score 0.0678 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.6%
Validation Efficiency 100% (55/55)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts20 A C 15: 94,229,339 (GRCm39) C927G probably damaging Het
Afdn T A 17: 14,116,436 (GRCm39) D190E probably benign Het
Ankrd28 T C 14: 31,430,719 (GRCm39) D850G probably damaging Het
Arhgap45 T C 10: 79,852,813 (GRCm39) M1T probably null Het
Atp6v0a4 T G 6: 38,065,581 (GRCm39) K128N possibly damaging Het
Bcat1 T A 6: 144,955,834 (GRCm39) D349V probably damaging Het
Cacna1i T C 15: 80,240,388 (GRCm39) F370S probably damaging Het
Clca4b T C 3: 144,634,348 (GRCm39) I82V probably benign Het
Csmd3 CCTTTGCGCTT CCTT 15: 47,604,632 (GRCm39) probably null Het
Cyfip2 T C 11: 46,152,333 (GRCm39) D485G probably benign Het
Cyp27b1 G T 10: 126,886,929 (GRCm39) V382L probably damaging Het
Dnaaf5 T C 5: 139,167,320 (GRCm39) V447A possibly damaging Het
Dpp9 A T 17: 56,506,113 (GRCm39) F429I possibly damaging Het
Eng C T 2: 32,569,059 (GRCm39) R528C probably damaging Het
Gcn1 A T 5: 115,730,191 (GRCm39) Q835L probably benign Het
Gprc6a CAAA CA 10: 51,491,776 (GRCm39) probably null Het
Hlx T A 1: 184,462,889 (GRCm39) probably null Het
Htt T A 5: 34,979,062 (GRCm39) V815D probably benign Het
Il36rn G T 2: 24,169,692 (GRCm39) L17F probably damaging Het
Itga1 C T 13: 115,167,446 (GRCm39) V157I probably benign Het
Krtap19-3 T G 16: 88,674,607 (GRCm39) *88C probably null Het
Lzic G C 4: 149,573,185 (GRCm39) E112D probably null Het
Mark2 G C 19: 7,260,112 (GRCm39) S111C probably damaging Het
Mep1b C T 18: 21,219,296 (GRCm39) T150I possibly damaging Het
Mroh7 G C 4: 106,557,378 (GRCm39) S777R probably damaging Het
Nrxn1 G A 17: 90,469,859 (GRCm39) R35C probably damaging Het
Or12e10 T A 2: 87,640,704 (GRCm39) I180K probably damaging Het
Or51v8 T G 7: 103,320,079 (GRCm39) Q53P possibly damaging Het
Or5p69 C A 7: 107,966,769 (GRCm39) P24Q probably benign Het
Pacs2 A G 12: 113,014,567 (GRCm39) T243A probably benign Het
Pan2 A G 10: 128,140,091 (GRCm39) E4G possibly damaging Het
Pdp1 A G 4: 11,961,123 (GRCm39) V396A probably damaging Het
Pdzd7 A G 19: 45,024,494 (GRCm39) probably null Het
Peg10 T A 6: 4,755,914 (GRCm39) probably benign Het
Pgc C A 17: 48,040,236 (GRCm39) F93L probably null Het
Piezo2 A G 18: 63,214,733 (GRCm39) probably null Het
Pja2 T C 17: 64,616,397 (GRCm39) D166G probably benign Het
Ppp1r9b T C 11: 94,888,877 (GRCm39) L97P probably damaging Het
Ptgir A G 7: 16,640,794 (GRCm39) M29V possibly damaging Het
S100a10 T C 3: 93,471,680 (GRCm39) V88A probably damaging Het
Scn9a T A 2: 66,364,573 (GRCm39) Y789F probably damaging Het
Slit3 A T 11: 35,579,509 (GRCm39) S1229C probably null Het
Spata31g1 A G 4: 42,972,238 (GRCm39) T524A possibly damaging Het
Sptan1 T C 2: 29,908,588 (GRCm39) probably benign Het
Srrd G T 5: 112,490,810 (GRCm39) probably benign Het
Tectb C G 19: 55,169,431 (GRCm39) probably benign Het
Ttll4 A G 1: 74,725,550 (GRCm39) K653E probably damaging Het
Usp43 A G 11: 67,770,795 (GRCm39) L613P probably damaging Het
Vmn1r167 T C 7: 23,204,224 (GRCm39) D264G possibly damaging Het
Whamm A G 7: 81,221,089 (GRCm39) D7G probably damaging Het
Zcchc17 T C 4: 130,232,317 (GRCm39) D62G probably benign Het
Zfp280d T A 9: 72,206,104 (GRCm39) I62K probably damaging Het
Zfp445 T G 9: 122,681,541 (GRCm39) E800A probably damaging Het
Zfp516 A G 18: 83,005,063 (GRCm39) R656G possibly 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
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
R5291:Tdrd3 UTSW 14 87,743,234 (GRCm39) missense probably benign 0.21
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'- AGTGGTAGTTTTGCCTTTACCAATG -3'
(R):5'- TCTGCTTGTCCAATCTGTAGAG -3'

Sequencing Primer
(F):5'- GTAGTTTTGCCTTTACCAATGATAAG -3'
(R):5'- CTTGTCCAATCTGTAGAGAGGAG -3'
Posted On 2014-10-01