Incidental Mutation 'R0499:Dtx2'
ID 47009
Institutional Source Beutler Lab
Gene Symbol Dtx2
Ensembl Gene ENSMUSG00000004947
Gene Name deltex 2, E3 ubiquitin ligase
Synonyms
MMRRC Submission 038695-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0499 (G1)
Quality Score 214
Status Validated
Chromosome 5
Chromosomal Location 135994800-136032872 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 136029103 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glycine to Arginine at position 421 (G421R)
Ref Sequence ENSEMBL: ENSMUSP00000106772 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005072] [ENSMUST00000111142] [ENSMUST00000111144] [ENSMUST00000111145] [ENSMUST00000125827]
AlphaFold Q8R3P2
PDB Structure Solution Structure of the Ring-H2 Finger Domain of Mouse Deltex Protein 2 [SOLUTION NMR]
Predicted Effect probably damaging
Transcript: ENSMUST00000005072
AA Change: G420R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000005072
Gene: ENSMUSG00000004947
AA Change: G420R

DomainStartEndE-ValueType
WWE 17 105 2.02e-31 SMART
WWE 107 182 6.98e-26 SMART
low complexity region 281 318 N/A INTRINSIC
RING 408 468 2.49e-5 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000111142
AA Change: G421R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106772
Gene: ENSMUSG00000004947
AA Change: G421R

DomainStartEndE-ValueType
WWE 17 105 2.02e-31 SMART
WWE 107 182 6.98e-26 SMART
low complexity region 281 318 N/A INTRINSIC
RING 409 469 2.49e-5 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000111144
AA Change: G375R

PolyPhen 2 Score 0.488 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000106774
Gene: ENSMUSG00000004947
AA Change: G375R

DomainStartEndE-ValueType
WWE 17 105 2.02e-31 SMART
WWE 107 182 6.98e-26 SMART
low complexity region 281 318 N/A INTRINSIC
RING 363 423 2.49e-5 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000111145
AA Change: G375R

PolyPhen 2 Score 0.488 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000106775
Gene: ENSMUSG00000004947
AA Change: G375R

DomainStartEndE-ValueType
WWE 17 105 2.02e-31 SMART
WWE 107 182 6.98e-26 SMART
low complexity region 281 318 N/A INTRINSIC
RING 363 423 2.49e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000125827
SMART Domains Protein: ENSMUSP00000115122
Gene: ENSMUSG00000004947

DomainStartEndE-ValueType
WWE 17 105 2.02e-31 SMART
WWE 107 182 6.98e-26 SMART
low complexity region 281 318 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142041
Meta Mutation Damage Score 0.6921 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.2%
Validation Efficiency 99% (97/98)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] DTX2 functions as an E3 ubiquitin ligase (Takeyama et al., 2003 [PubMed 12670957]).[supplied by OMIM, Nov 2009]
PHENOTYPE: Mice homozygous for a knock-out allele are viable and overtly normal with no detectable abnormalities in T or B cell development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 94 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad9 T C 3: 36,085,415 (GRCm38) V388A probably damaging Het
Acp3 T C 9: 104,320,002 (GRCm38) E146G probably damaging Het
Adap2 A T 11: 80,176,079 (GRCm38) R276S probably damaging Het
Agbl3 A T 6: 34,839,335 (GRCm38) M727L probably benign Het
Ahnak T A 19: 9,000,264 (GRCm38) probably benign Het
Ankmy1 G T 1: 92,886,226 (GRCm38) D410E probably damaging Het
Ankra2 T C 13: 98,266,454 (GRCm38) S70P probably damaging Het
Aox4 T C 1: 58,263,397 (GRCm38) probably null Het
Arl13b G A 16: 62,801,733 (GRCm38) T399I probably benign Het
Atad2 T G 15: 58,120,949 (GRCm38) M328L probably benign Het
Atad2 A T 15: 58,103,240 (GRCm38) D652E possibly damaging Het
Ccnb1 T C 13: 100,780,134 (GRCm38) probably null Het
Ccr2 A T 9: 124,106,126 (GRCm38) T148S possibly damaging Het
Ccr2 G C 9: 124,105,939 (GRCm38) K85N possibly damaging Het
Cdc20b T C 13: 113,055,950 (GRCm38) V59A probably benign Het
Cdin1 C T 2: 115,642,691 (GRCm38) R101W probably damaging Het
Cdkl3 T C 11: 52,032,416 (GRCm38) S507P possibly damaging Het
Celf6 C A 9: 59,602,878 (GRCm38) T86K probably benign Het
Ces1g A G 8: 93,333,689 (GRCm38) F101L probably benign Het
Cimap1d T C 10: 79,640,265 (GRCm38) D155G probably damaging Het
Cntnap3 C T 13: 64,858,678 (GRCm38) D107N probably benign Het
Col15a1 A T 4: 47,262,950 (GRCm38) D534V probably damaging Het
Col27a1 A G 4: 63,300,741 (GRCm38) probably benign Het
Csmd3 T C 15: 47,847,131 (GRCm38) T1687A probably benign Het
Cstf3 A G 2: 104,649,605 (GRCm38) I272M possibly damaging Het
Cyp2d40 T C 15: 82,761,217 (GRCm38) T150A probably benign Het
Dnah8 T A 17: 30,715,509 (GRCm38) F1489L possibly damaging Het
Dop1b A T 16: 93,770,437 (GRCm38) T1251S probably benign Het
Epb41l3 T A 17: 69,247,659 (GRCm38) D251E probably benign Het
Erg A C 16: 95,360,983 (GRCm38) Y305* probably null Het
Exosc4 G A 15: 76,329,566 (GRCm38) A197T probably benign Het
Fam227b T A 2: 126,100,909 (GRCm38) I323L probably benign Het
Far1 G T 7: 113,554,296 (GRCm38) probably benign Het
Fmod A G 1: 134,041,196 (GRCm38) I325V possibly damaging Het
Fshr C G 17: 89,009,285 (GRCm38) S169T probably benign Het
Gm4076 G T 13: 85,127,226 (GRCm38) noncoding transcript Het
Gm5134 A T 10: 75,992,525 (GRCm38) Y313F probably benign Het
H2-Q6 T A 17: 35,425,203 (GRCm38) F54I probably damaging Het
Hcrtr2 C A 9: 76,254,672 (GRCm38) L145F probably damaging Het
Hepacam2 A G 6: 3,476,121 (GRCm38) L268P probably damaging Het
Herc2 C A 7: 56,184,369 (GRCm38) C3107* probably null Het
Herc4 T C 10: 63,264,032 (GRCm38) V78A probably damaging Het
Hyal5 T C 6: 24,877,921 (GRCm38) W339R probably damaging Het
Igfbp6 T A 15: 102,147,984 (GRCm38) probably null Het
Il18rap A T 1: 40,525,058 (GRCm38) H112L probably benign Het
Il1r2 T A 1: 40,123,149 (GRCm38) Y317* probably null Het
Ints8 C A 4: 11,246,097 (GRCm38) V190L probably benign Het
Ipo11 T C 13: 106,925,087 (GRCm38) T22A probably benign Het
Itgb4 C A 11: 115,979,695 (GRCm38) R117S probably benign Het
Lcorl C G 5: 45,734,369 (GRCm38) G214A probably benign Het
Lgals3bp T A 11: 118,398,193 (GRCm38) probably null Het
Lyst T A 13: 13,616,713 (GRCm38) L54I probably damaging Het
Mcm9 T C 10: 53,538,154 (GRCm38) T1015A probably benign Het
Mef2d T A 3: 88,156,518 (GRCm38) I84N probably damaging Het
Mmrn2 A G 14: 34,397,956 (GRCm38) N261S probably damaging Het
Mpdz T C 4: 81,292,531 (GRCm38) T1693A probably benign Het
Mss51 T A 14: 20,484,688 (GRCm38) Q338L possibly damaging Het
Mstn T A 1: 53,063,984 (GRCm38) Y160N probably damaging Het
Muc6 T C 7: 141,640,468 (GRCm38) T1431A probably benign Het
Nek9 A T 12: 85,301,883 (GRCm38) M959K probably benign Het
Olfr911-ps1 A T 9: 38,524,505 (GRCm38) M258L probably benign Het
Or2ak6 G A 11: 58,702,243 (GRCm38) V181I probably benign Het
Or4f58 A T 2: 112,021,432 (GRCm38) C141S probably damaging Het
Otog G T 7: 46,273,832 (GRCm38) G1044W probably damaging Het
Pcdh9 G A 14: 93,886,235 (GRCm38) T833M probably damaging Het
Pdcd10 T C 3: 75,527,651 (GRCm38) K111R probably damaging Het
Pde5a A G 3: 122,748,458 (GRCm38) N199S probably damaging Het
Plekhg1 T C 10: 3,937,971 (GRCm38) V355A probably damaging Het
Podn G T 4: 108,021,594 (GRCm38) L359I probably damaging Het
Psd T C 19: 46,322,161 (GRCm38) E483G probably damaging Het
Ptch2 T A 4: 117,111,143 (GRCm38) L905* probably null Het
Rxfp2 T A 5: 150,066,415 (GRCm38) N420K probably damaging Het
Scpppq1 C A 5: 104,074,881 (GRCm38) G24* probably null Het
Sde2 T A 1: 180,862,427 (GRCm38) D237E probably benign Het
Serpina1d A T 12: 103,765,757 (GRCm38) L281Q probably damaging Het
Serpina9 T C 12: 104,001,470 (GRCm38) N222S probably benign Het
Sh3bgrl2 A G 9: 83,577,559 (GRCm38) K57E probably damaging Het
Shc3 C T 13: 51,480,228 (GRCm38) probably benign Het
Sik3 T C 9: 46,208,740 (GRCm38) M659T possibly damaging Het
Slc23a2 A G 2: 132,072,017 (GRCm38) L280P probably damaging Het
Smchd1 G T 17: 71,387,088 (GRCm38) Q1221K probably benign Het
Spmip2 T A 3: 79,405,786 (GRCm38) W56R probably damaging Het
Spocd1 A G 4: 129,955,470 (GRCm38) N694S possibly damaging Het
Styxl2 C A 1: 166,099,101 (GRCm38) V981L probably benign Het
Tecta T C 9: 42,352,063 (GRCm38) D1409G probably damaging Het
Tmem131 A T 1: 36,841,673 (GRCm38) V172D probably damaging Het
Trpm3 T C 19: 22,986,873 (GRCm38) M1244T possibly damaging Het
Ugcg G C 4: 59,217,036 (GRCm38) V187L possibly damaging Het
Usp17le T C 7: 104,768,501 (GRCm38) N478S probably benign Het
Usp36 A G 11: 118,273,571 (GRCm38) V205A probably damaging Het
Vmn1r25 T A 6: 57,978,509 (GRCm38) Q265L probably damaging Het
Vwf A T 6: 125,638,114 (GRCm38) H1176L probably benign Het
Zfyve28 C T 5: 34,232,206 (GRCm38) D217N possibly damaging Het
Zranb3 A C 1: 127,955,080 (GRCm38) probably null Het
Other mutations in Dtx2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01077:Dtx2 APN 5 136,029,203 (GRCm38) missense possibly damaging 0.95
IGL01536:Dtx2 APN 5 136,010,086 (GRCm38) utr 5 prime probably benign
IGL01584:Dtx2 APN 5 136,026,566 (GRCm38) missense possibly damaging 0.49
IGL01782:Dtx2 APN 5 136,010,127 (GRCm38) nonsense probably null
IGL03091:Dtx2 APN 5 136,012,374 (GRCm38) missense probably damaging 1.00
R0580:Dtx2 UTSW 5 136,032,326 (GRCm38) missense probably damaging 1.00
R1988:Dtx2 UTSW 5 136,032,293 (GRCm38) nonsense probably null
R2062:Dtx2 UTSW 5 136,030,577 (GRCm38) missense probably damaging 1.00
R2063:Dtx2 UTSW 5 136,030,577 (GRCm38) missense probably damaging 1.00
R2064:Dtx2 UTSW 5 136,030,577 (GRCm38) missense probably damaging 1.00
R2065:Dtx2 UTSW 5 136,030,577 (GRCm38) missense probably damaging 1.00
R2068:Dtx2 UTSW 5 136,030,577 (GRCm38) missense probably damaging 1.00
R2108:Dtx2 UTSW 5 136,030,577 (GRCm38) missense probably damaging 1.00
R2110:Dtx2 UTSW 5 136,030,577 (GRCm38) missense probably damaging 1.00
R2111:Dtx2 UTSW 5 136,030,577 (GRCm38) missense probably damaging 1.00
R2130:Dtx2 UTSW 5 136,012,040 (GRCm38) missense probably damaging 0.96
R2146:Dtx2 UTSW 5 136,030,610 (GRCm38) missense probably benign 0.21
R3108:Dtx2 UTSW 5 136,021,816 (GRCm38) missense probably benign 0.01
R3421:Dtx2 UTSW 5 136,012,478 (GRCm38) missense probably damaging 1.00
R4467:Dtx2 UTSW 5 136,012,076 (GRCm38) missense probably damaging 1.00
R4741:Dtx2 UTSW 5 136,026,517 (GRCm38) missense probably benign 0.00
R5083:Dtx2 UTSW 5 136,012,190 (GRCm38) missense probably damaging 1.00
R5318:Dtx2 UTSW 5 136,012,100 (GRCm38) missense possibly damaging 0.92
R5705:Dtx2 UTSW 5 136,010,295 (GRCm38) missense probably damaging 1.00
R5964:Dtx2 UTSW 5 136,023,699 (GRCm38) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TTGACTTGATGGCCTAGCATCCCC -3'
(R):5'- ATGGCTTAGTACCTGCCCTTCAGC -3'

Sequencing Primer
(F):5'- CTTCTTCTGACAGAGGCAGGAC -3'
(R):5'- atgctcctactgcctcaac -3'
Posted On 2013-06-12