Incidental Mutation 'R8714:D3Ertd751e'
ID 669749
Institutional Source Beutler Lab
Gene Symbol D3Ertd751e
Ensembl Gene ENSMUSG00000025766
Gene Name DNA segment, Chr 3, ERATO Doi 751, expressed
Synonyms 2810009O15Rik, 4930415G15Rik
MMRRC Submission 068568-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.081) question?
Stock # R8714 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 41697046-41757755 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 41700998 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Stop codon at position 6 (E6*)
Ref Sequence ENSEMBL: ENSMUSP00000103700 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026866] [ENSMUST00000026867] [ENSMUST00000026868] [ENSMUST00000108065] [ENSMUST00000119572] [ENSMUST00000120167] [ENSMUST00000143841] [ENSMUST00000146125] [ENSMUST00000146165] [ENSMUST00000148769] [ENSMUST00000192193] [ENSMUST00000194346] [ENSMUST00000195030] [ENSMUST00000195882]
AlphaFold Q8BGN2
Predicted Effect probably benign
Transcript: ENSMUST00000026866
SMART Domains Protein: ENSMUSP00000026866
Gene: ENSMUSG00000059834

DomainStartEndE-ValueType
coiled coil region 59 105 N/A INTRINSIC
internal_repeat_1 166 179 6.29e-5 PROSPERO
coiled coil region 372 543 N/A INTRINSIC
internal_repeat_1 555 568 6.29e-5 PROSPERO
coiled coil region 571 675 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000026867
AA Change: E6*
Predicted Effect probably null
Transcript: ENSMUST00000026868
AA Change: E6*
Predicted Effect probably null
Transcript: ENSMUST00000108065
AA Change: E6*
Predicted Effect probably null
Transcript: ENSMUST00000119572
AA Change: E6*
Predicted Effect probably null
Transcript: ENSMUST00000120167
AA Change: E6*
Predicted Effect probably null
Transcript: ENSMUST00000143841
AA Change: E6*
Predicted Effect probably benign
Transcript: ENSMUST00000146125
Predicted Effect probably null
Transcript: ENSMUST00000146165
AA Change: E6*
Predicted Effect probably benign
Transcript: ENSMUST00000148769
SMART Domains Protein: ENSMUSP00000123392
Gene: ENSMUSG00000059834

DomainStartEndE-ValueType
coiled coil region 59 105 N/A INTRINSIC
coiled coil region 178 333 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000192193
AA Change: E6*
Predicted Effect probably benign
Transcript: ENSMUST00000193075
Predicted Effect probably benign
Transcript: ENSMUST00000193228
Predicted Effect probably null
Transcript: ENSMUST00000194346
AA Change: E6*
Predicted Effect probably benign
Transcript: ENSMUST00000195030
Predicted Effect probably null
Transcript: ENSMUST00000195882
AA Change: E6*
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik C T 4: 103,100,093 (GRCm39) A137T probably benign Het
4930474N05Rik T A 14: 35,818,456 (GRCm39) C151* probably null Het
Abca4 A G 3: 121,942,528 (GRCm39) T1674A probably benign Het
Acat3 A T 17: 13,147,516 (GRCm39) V167E probably benign Het
Alb T C 5: 90,608,874 (GRCm39) probably null Het
Apol9a T C 15: 77,288,942 (GRCm39) T142A probably benign Het
Asb14 C T 14: 26,623,032 (GRCm39) P135S possibly damaging Het
Asb17 A G 3: 153,556,313 (GRCm39) Y140C probably damaging Het
Atp4a T A 7: 30,420,013 (GRCm39) I750N probably damaging Het
Bard1 T C 1: 71,069,986 (GRCm39) Y664C probably damaging Het
Cacnb3 G A 15: 98,530,262 (GRCm39) probably benign Het
Card11 T A 5: 140,899,147 (GRCm39) D9V possibly damaging Het
Casp8 A T 1: 58,872,812 (GRCm39) Q229H possibly damaging Het
Ccdc88b T C 19: 6,833,213 (GRCm39) E278G probably damaging Het
Cd209d CAT C 8: 3,923,772 (GRCm39) probably null Het
Cep350 T C 1: 155,736,477 (GRCm39) D2853G probably damaging Het
Cfap161 T C 7: 83,442,482 (GRCm39) I110M probably benign Het
Chid1 T A 7: 141,093,678 (GRCm39) K313* probably null Het
Col16a1 T A 4: 129,947,961 (GRCm39) I227N unknown Het
Ddx41 T C 13: 55,682,250 (GRCm39) Q208R probably damaging Het
Dhrs13 G C 11: 77,923,492 (GRCm39) R70P possibly damaging Het
Dmrta1 A T 4: 89,579,682 (GRCm39) Q214L probably benign Het
Eif2ak4 T C 2: 118,292,765 (GRCm39) F1330L possibly damaging Het
Fbxw13 C T 9: 109,023,832 (GRCm39) V71I probably benign Het
H2-Q2 T C 17: 35,562,338 (GRCm39) L195P possibly damaging Het
Hemgn C T 4: 46,395,904 (GRCm39) G444D probably damaging Het
Lmtk2 A G 5: 144,112,876 (GRCm39) T1199A probably damaging Het
Ly75 T C 2: 60,164,829 (GRCm39) D783G probably damaging Het
Micall1 G A 15: 79,011,510 (GRCm39) A627T probably benign Het
Morc2a C T 11: 3,625,877 (GRCm39) T159I probably benign Het
Mthfr C A 4: 148,126,275 (GRCm39) N115K probably damaging Het
Muc1 G A 3: 89,138,821 (GRCm39) V477M possibly damaging Het
Mug1 C T 6: 121,859,681 (GRCm39) P1227S probably benign Het
Ogfod3 T A 11: 121,087,608 (GRCm39) D163V possibly damaging Het
Or51a43 T A 7: 103,717,483 (GRCm39) I252F probably damaging Het
Pcnx2 C T 8: 126,500,546 (GRCm39) V1515I probably benign Het
Plat G T 8: 23,262,248 (GRCm39) G91W probably damaging Het
Plscr3 G T 11: 69,738,838 (GRCm39) G167C probably benign Het
Plxna4 T A 6: 32,140,379 (GRCm39) K1670* probably null Het
Prb1c G A 6: 132,341,051 (GRCm39) T7I unknown Het
Rab7 T C 6: 87,989,369 (GRCm39) S34G probably damaging Het
Rnf157 C A 11: 116,237,891 (GRCm39) A577S probably benign Het
Rnf213 C T 11: 119,359,720 (GRCm39) S4371L Het
S1pr1 A T 3: 115,505,470 (GRCm39) S375T probably benign Het
Spen T C 4: 141,215,314 (GRCm39) N506S unknown Het
Sulf1 T A 1: 12,878,141 (GRCm39) Y210N probably benign Het
Tenm4 C T 7: 96,555,148 (GRCm39) P2618S probably benign Het
Tg A G 15: 66,555,891 (GRCm39) N861S probably damaging Het
Ttc29 A G 8: 79,060,331 (GRCm39) E417G possibly damaging Het
Tyw1 G A 5: 130,298,065 (GRCm39) R202Q probably damaging Het
Ubxn7 T A 16: 32,186,229 (GRCm39) probably benign Het
Vmn1r62 C A 7: 5,678,629 (GRCm39) Y103* probably null Het
Zfp804b A T 5: 6,822,378 (GRCm39) Y228* probably null 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
R6350:D3Ertd751e UTSW 3 41,708,278 (GRCm39) missense probably damaging 1.00
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
Predicted Primers PCR Primer
(F):5'- AGCTTTTAGGCTCCAGTTGTATTC -3'
(R):5'- ACTGCGTCAGTTGTTCAAAAG -3'

Sequencing Primer
(F):5'- CTGGAATAGAATTCAGAGTTCCTAAG -3'
(R):5'- GCGTCAGTTGTTCAAAAGCATATTAC -3'
Posted On 2021-04-30