Incidental Mutation 'R6350:D3Ertd751e'
ID 514146
Institutional Source Beutler Lab
Gene Symbol D3Ertd751e
Ensembl Gene ENSMUSG00000025766
Gene Name DNA segment, Chr 3, ERATO Doi 751, expressed
Synonyms 2810009O15Rik, 4930415G15Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.081) question?
Stock # R6350 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 41697046-41757755 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 41708278 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 138 (H138Q)
Ref Sequence ENSEMBL: ENSMUSP00000142037 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026867] [ENSMUST00000026868] [ENSMUST00000108065] [ENSMUST00000119572] [ENSMUST00000120167] [ENSMUST00000143841] [ENSMUST00000146165] [ENSMUST00000194346] [ENSMUST00000195882] [ENSMUST00000195030] [ENSMUST00000192193]
AlphaFold Q8BGN2
Predicted Effect probably benign
Transcript: ENSMUST00000026867
Predicted Effect probably benign
Transcript: ENSMUST00000026868
Predicted Effect probably damaging
Transcript: ENSMUST00000108065
AA Change: H138Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000119572
Predicted Effect probably benign
Transcript: ENSMUST00000120167
Predicted Effect probably benign
Transcript: ENSMUST00000143841
Predicted Effect probably damaging
Transcript: ENSMUST00000146165
AA Change: H138Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000194346
AA Change: H138Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000195882
AA Change: H138Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect unknown
Transcript: ENSMUST00000193075
AA Change: H83Q
Predicted Effect probably benign
Transcript: ENSMUST00000195030
Predicted Effect probably benign
Transcript: ENSMUST00000192193
Predicted Effect probably benign
Transcript: ENSMUST00000193228
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192799
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik A G 15: 81,947,764 (GRCm39) K554E possibly damaging Het
Acsf2 T C 11: 94,449,156 (GRCm39) M609V probably benign Het
Acsm3 A G 7: 119,367,256 (GRCm39) T30A probably benign Het
Adam32 T C 8: 25,353,445 (GRCm39) K715E possibly damaging Het
Cdk5r1 T C 11: 80,369,068 (GRCm39) L245P probably damaging Het
Cntn3 A G 6: 102,147,579 (GRCm39) V926A probably damaging Het
Csf2rb G A 15: 78,229,752 (GRCm39) D440N probably damaging Het
D630003M21Rik A G 2: 158,062,415 (GRCm39) L35P probably damaging Het
Faap100 A T 11: 120,265,406 (GRCm39) V490E probably damaging Het
Il3ra A G 14: 14,348,903 (GRCm38) D99G probably benign Het
Kcnmb1 A G 11: 33,914,711 (GRCm39) K4R probably damaging Het
Larp1 T A 11: 57,940,657 (GRCm39) D594E probably benign Het
Lnpep G T 17: 17,783,071 (GRCm39) H577N probably benign Het
Mief1 T C 15: 80,133,804 (GRCm39) I287T probably damaging Het
Mras T C 9: 99,293,560 (GRCm39) S27G probably damaging Het
Myh7b T A 2: 155,470,680 (GRCm39) C1043S probably benign Het
N4bp1 T C 8: 87,588,596 (GRCm39) D114G probably damaging Het
Nsmce4a A T 7: 130,140,829 (GRCm39) I219K probably damaging Het
Nynrin A T 14: 56,105,533 (GRCm39) I848F probably benign Het
Or2p2 T C 13: 21,256,775 (GRCm39) E232G probably benign Het
Or4f62 T A 2: 111,986,542 (GRCm39) I82N probably damaging Het
Patj T A 4: 98,293,855 (GRCm39) S36T probably benign Het
Pcdhb15 G A 18: 37,608,414 (GRCm39) V549M probably damaging Het
Prl2c5 T C 13: 13,357,631 (GRCm39) probably null Het
Ptbp3 A T 4: 59,482,624 (GRCm39) D386E probably damaging Het
Ptpra T C 2: 130,382,512 (GRCm39) L451P probably damaging Het
Repin1 A G 6: 48,574,562 (GRCm39) D497G probably damaging Het
Ryr2 A G 13: 11,776,282 (GRCm39) F1085S probably damaging Het
Slc6a18 G A 13: 73,826,044 (GRCm39) A2V possibly damaging Het
Wee2 C T 6: 40,432,039 (GRCm39) R203C probably damaging Het
Zmynd15 T C 11: 70,355,257 (GRCm39) V388A probably damaging Het
Other mutations in D3Ertd751e
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01329:D3Ertd751e APN 3 41,703,132 (GRCm39) missense probably benign 0.04
IGL02484:D3Ertd751e APN 3 41,708,155 (GRCm39) splice site probably null
IGL02587:D3Ertd751e APN 3 41,708,287 (GRCm39) missense probably benign
IGL03173:D3Ertd751e APN 3 41,710,497 (GRCm39) missense probably damaging 1.00
IGL03304:D3Ertd751e APN 3 41,701,164 (GRCm39) critical splice donor site probably null
Terre UTSW 3 41,712,844 (GRCm39) splice site probably null
R0239:D3Ertd751e UTSW 3 41,708,313 (GRCm39) missense probably damaging 1.00
R0239:D3Ertd751e UTSW 3 41,708,313 (GRCm39) missense probably damaging 1.00
R4275:D3Ertd751e UTSW 3 41,710,589 (GRCm39) utr 3 prime probably benign
R7001:D3Ertd751e UTSW 3 41,712,844 (GRCm39) splice site probably null
R7134:D3Ertd751e UTSW 3 41,708,212 (GRCm39) critical splice donor site probably null
R7179:D3Ertd751e UTSW 3 41,703,143 (GRCm39) missense probably damaging 0.96
R7318:D3Ertd751e UTSW 3 41,756,986 (GRCm39) splice site probably null
R7358:D3Ertd751e UTSW 3 41,701,000 (GRCm39) missense probably damaging 0.99
R7632:D3Ertd751e UTSW 3 41,708,163 (GRCm39) missense probably benign 0.00
R7896:D3Ertd751e UTSW 3 41,710,508 (GRCm39) missense probably benign 0.01
R7952:D3Ertd751e UTSW 3 41,703,096 (GRCm39) splice site probably null
R8714:D3Ertd751e UTSW 3 41,700,998 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- AACAGGCATGGACAACATTTAGTTC -3'
(R):5'- ATCATCAAGCACCAAGTGACTG -3'

Sequencing Primer
(F):5'- TACTAGCTGGAAGAAGAAATGTTTG -3'
(R):5'- AGTGACTGCTGCTCTCACAAG -3'
Posted On 2018-04-27