Incidental Mutation 'R6240:Tdrd3'
ID 505200
Institutional Source Beutler Lab
Gene Symbol Tdrd3
Ensembl Gene ENSMUSG00000022019
Gene Name tudor domain containing 3
Synonyms 4732418C03Rik
MMRRC Submission 044364-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.508) question?
Stock # R6240 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 87416639-87545504 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 87505886 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 417 (N417K)
Ref Sequence ENSEMBL: ENSMUSP00000126189 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000168275] [ENSMUST00000169504] [ENSMUST00000170865]
AlphaFold Q91W18
Predicted Effect probably damaging
Transcript: ENSMUST00000168275
AA Change: N423K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000129019
Gene: ENSMUSG00000022019
AA Change: N423K

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: N423K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131542
Gene: ENSMUSG00000022019
AA Change: N423K

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: ENSMUST00000170865
AA Change: N417K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000126189
Gene: ENSMUSG00000022019
AA Change: N417K

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 0.2249 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.5%
Validation Efficiency 98% (62/63)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930578I06Rik C A 14: 63,986,252 (GRCm38) R25L probably damaging Het
9930021J03Rik A T 19: 29,717,240 (GRCm38) S1618T probably benign Het
Adamts1 G A 16: 85,802,157 (GRCm38) S185L probably benign Het
Adamts12 A T 15: 11,285,958 (GRCm38) D751V probably benign Het
Adgrg3 A G 8: 95,039,916 (GRCm38) D405G probably benign Het
Ahi1 A G 10: 20,977,081 (GRCm38) D516G probably damaging Het
Ahnak A T 19: 9,013,583 (GRCm38) D4077V probably damaging Het
Arhgef18 G A 8: 3,439,658 (GRCm38) R330Q probably damaging Het
Arid1a A G 4: 133,680,686 (GRCm38) V2170A unknown Het
Asxl3 C T 18: 22,465,508 (GRCm38) L227F probably damaging Het
B3glct A G 5: 149,726,788 (GRCm38) I119V probably benign Het
Cad T A 5: 31,072,978 (GRCm38) M1512K probably benign Het
Cdc25a A G 9: 109,884,158 (GRCm38) T172A probably damaging Het
Cdh18 A G 15: 23,226,936 (GRCm38) D161G possibly damaging Het
Clmp A G 9: 40,782,411 (GRCm38) N308S probably damaging Het
Dlg5 A T 14: 24,149,528 (GRCm38) probably null Het
Dscam G A 16: 96,619,502 (GRCm38) T1728M probably damaging Het
E4f1 A G 17: 24,444,582 (GRCm38) S524P possibly damaging Het
Epha5 G C 5: 84,117,579 (GRCm38) A452G probably benign Het
Fzd3 T C 14: 65,209,855 (GRCm38) T542A probably damaging Het
Glyctk A T 9: 106,156,262 (GRCm38) probably null Het
Gm10382 G A 5: 125,389,596 (GRCm38) probably benign Het
Gm8765 G A 13: 50,701,417 (GRCm38) D364N probably damaging Het
Hnmt T A 2: 24,014,269 (GRCm38) M127L probably benign Het
Hoxc10 T A 15: 102,970,830 (GRCm38) W262R probably damaging Het
Icam5 T A 9: 21,033,158 (GRCm38) W52R possibly damaging Het
Jazf1 A T 6: 52,777,552 (GRCm38) C180S probably damaging Het
Kcnk2 A G 1: 189,242,982 (GRCm38) W286R probably damaging Het
Kcnmb2 C T 3: 32,181,896 (GRCm38) S98F probably damaging Het
Mob3a C G 10: 80,689,864 (GRCm38) E204D possibly damaging Het
Morc3 C G 16: 93,862,684 (GRCm38) H459D probably damaging Het
Mroh2b A T 15: 4,934,644 (GRCm38) N876I probably benign Het
Myo16 A T 8: 10,370,930 (GRCm38) T257S probably damaging Het
Nat1 A T 8: 67,491,702 (GRCm38) R243S possibly damaging Het
Nudt9 T C 5: 104,047,089 (GRCm38) V17A probably benign Het
Olfr1205 A G 2: 88,831,363 (GRCm38) D82G probably benign Het
Olfr1216 A G 2: 89,013,626 (GRCm38) I146T probably benign Het
Olfr1340 A G 4: 118,726,471 (GRCm38) S75G probably benign Het
Olfr734 A G 14: 50,320,586 (GRCm38) V83A probably benign Het
Olfr814 C A 10: 129,874,677 (GRCm38) V27L probably benign Het
Pcdh7 T C 5: 57,721,362 (GRCm38) L753P probably damaging Het
Pcf11 T A 7: 92,646,502 (GRCm38) E1446D probably damaging Het
Pepd A G 7: 35,021,751 (GRCm38) I267V probably benign Het
Plk2 T A 13: 110,399,474 (GRCm38) Y571N probably damaging Het
Plk2 T A 13: 110,400,034 (GRCm38) V620E probably damaging Het
Prag1 T C 8: 36,103,352 (GRCm38) L363P probably benign Het
Psmd3 A G 11: 98,693,653 (GRCm38) T387A probably damaging Het
Ptgs1 G A 2: 36,237,285 (GRCm38) C61Y probably damaging Het
Rab18 T C 18: 6,784,635 (GRCm38) Y109H probably benign Het
Robo2 G A 16: 73,982,139 (GRCm38) P358L probably damaging Het
Smarcc2 C T 10: 128,488,024 (GRCm38) probably benign Het
Srgap1 A G 10: 122,047,156 (GRCm38) I13T probably benign Het
Tcf12 T A 9: 71,944,016 (GRCm38) K110* probably null Het
Tdrd1 T C 19: 56,841,335 (GRCm38) S214P probably benign Het
Tmem255b A G 8: 13,454,216 (GRCm38) Y136C probably damaging Het
Tmem63c A T 12: 87,076,405 (GRCm38) I448F possibly damaging Het
Tnpo1 T C 13: 98,863,829 (GRCm38) I335M probably damaging Het
Vmn1r1 T C 1: 182,157,621 (GRCm38) T160A probably damaging Het
Vmn1r203 A G 13: 22,524,729 (GRCm38) N227D possibly damaging Het
Vmn2r6 T A 3: 64,556,805 (GRCm38) S203C probably damaging Het
Zfp628 A G 7: 4,919,849 (GRCm38) T357A possibly damaging Het
Zfp872 A G 9: 22,199,884 (GRCm38) K220E probably damaging Het
Other mutations in Tdrd3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01019:Tdrd3 APN 14 87,472,182 (GRCm38) missense probably damaging 1.00
IGL01339:Tdrd3 APN 14 87,480,794 (GRCm38) missense possibly damaging 0.75
IGL01565:Tdrd3 APN 14 87,472,232 (GRCm38) missense probably benign 0.01
IGL02505:Tdrd3 APN 14 87,511,682 (GRCm38) missense probably damaging 1.00
R0121:Tdrd3 UTSW 14 87,539,479 (GRCm38) missense probably damaging 1.00
R0550:Tdrd3 UTSW 14 87,486,220 (GRCm38) missense probably damaging 1.00
R0648:Tdrd3 UTSW 14 87,472,182 (GRCm38) missense probably damaging 1.00
R1080:Tdrd3 UTSW 14 87,506,398 (GRCm38) missense probably benign 0.00
R1099:Tdrd3 UTSW 14 87,487,239 (GRCm38) missense probably damaging 1.00
R1126:Tdrd3 UTSW 14 87,480,774 (GRCm38) missense probably damaging 1.00
R1370:Tdrd3 UTSW 14 87,458,054 (GRCm38) intron probably benign
R1592:Tdrd3 UTSW 14 87,505,886 (GRCm38) missense probably damaging 1.00
R1881:Tdrd3 UTSW 14 87,486,347 (GRCm38) splice site probably null
R2096:Tdrd3 UTSW 14 87,506,352 (GRCm38) nonsense probably null
R2162:Tdrd3 UTSW 14 87,480,785 (GRCm38) missense probably damaging 0.98
R3833:Tdrd3 UTSW 14 87,480,785 (GRCm38) missense probably damaging 0.98
R3947:Tdrd3 UTSW 14 87,506,599 (GRCm38) missense probably damaging 1.00
R4421:Tdrd3 UTSW 14 87,486,283 (GRCm38) missense probably damaging 1.00
R4783:Tdrd3 UTSW 14 87,472,101 (GRCm38) missense probably damaging 1.00
R4957:Tdrd3 UTSW 14 87,505,787 (GRCm38) missense probably benign 0.06
R5212:Tdrd3 UTSW 14 87,506,215 (GRCm38) missense probably damaging 0.98
R5291:Tdrd3 UTSW 14 87,505,798 (GRCm38) missense probably benign 0.21
R5318:Tdrd3 UTSW 14 87,477,463 (GRCm38) critical splice donor site probably null
R5383:Tdrd3 UTSW 14 87,480,791 (GRCm38) nonsense probably null
R5718:Tdrd3 UTSW 14 87,506,440 (GRCm38) missense probably benign 0.05
R6292:Tdrd3 UTSW 14 87,506,254 (GRCm38) missense probably benign
R6532:Tdrd3 UTSW 14 87,505,816 (GRCm38) missense probably damaging 0.98
R6850:Tdrd3 UTSW 14 87,458,079 (GRCm38) intron probably benign
R6958:Tdrd3 UTSW 14 87,457,096 (GRCm38) missense probably damaging 1.00
R7224:Tdrd3 UTSW 14 87,477,403 (GRCm38) missense probably damaging 1.00
R7240:Tdrd3 UTSW 14 87,458,803 (GRCm38) missense probably benign 0.06
R7565:Tdrd3 UTSW 14 87,506,593 (GRCm38) nonsense probably null
R7818:Tdrd3 UTSW 14 87,472,200 (GRCm38) missense probably damaging 1.00
R7861:Tdrd3 UTSW 14 87,472,154 (GRCm38) missense probably damaging 1.00
R8108:Tdrd3 UTSW 14 87,486,266 (GRCm38) missense possibly damaging 0.95
R8206:Tdrd3 UTSW 14 87,511,778 (GRCm38) missense probably benign 0.11
R8383:Tdrd3 UTSW 14 87,506,308 (GRCm38) missense probably benign 0.26
R8786:Tdrd3 UTSW 14 87,472,201 (GRCm38) nonsense probably null
R8985:Tdrd3 UTSW 14 87,506,161 (GRCm38) missense possibly damaging 0.69
R9081:Tdrd3 UTSW 14 87,506,281 (GRCm38) missense probably benign 0.00
R9520:Tdrd3 UTSW 14 87,487,260 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACTGTCTTCCTATGTAAGTTTAGGC -3'
(R):5'- TTGTGCTGAAGGCCTAGAGG -3'

Sequencing Primer
(F):5'- AAAATGAGTAACTATCAGTGCTGTC -3'
(R):5'- GAAGCGTCTTTAGTTCTGTCATAC -3'
Posted On 2018-02-28