Incidental Mutation 'IGL03173:D3Ertd751e'
ID 411912
Institutional Source Australian Phenomics Network (link to record)
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 # IGL03173
Quality Score
Status
Chromosome 3
Chromosomal Location 41697046-41757755 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 41710497 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 170 (Y170N)
Ref Sequence ENSEMBL: ENSMUSP00000142037 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026867] [ENSMUST00000026868] [ENSMUST00000108065] [ENSMUST00000119572] [ENSMUST00000120167] [ENSMUST00000143841] [ENSMUST00000146165] [ENSMUST00000194346] [ENSMUST00000195882] [ENSMUST00000192193] [ENSMUST00000195030]
AlphaFold Q8BGN2
Predicted Effect probably damaging
Transcript: ENSMUST00000026867
AA Change: Y86N

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
Predicted Effect probably benign
Transcript: ENSMUST00000026868
Predicted Effect probably damaging
Transcript: ENSMUST00000108065
AA Change: Y170N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000119572
AA Change: Y86N

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
Predicted Effect probably benign
Transcript: ENSMUST00000120167
AA Change: I103K

PolyPhen 2 Score 0.337 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect probably benign
Transcript: ENSMUST00000143841
Predicted Effect probably damaging
Transcript: ENSMUST00000146165
AA Change: Y170N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000194346
AA Change: Y170N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000195882
AA Change: Y170N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect unknown
Transcript: ENSMUST00000193075
AA Change: Y115N
Predicted Effect probably damaging
Transcript: ENSMUST00000192193
AA Change: Y86N

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192799
Predicted Effect probably benign
Transcript: ENSMUST00000193228
Predicted Effect probably benign
Transcript: ENSMUST00000195030
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atg2b T C 12: 105,624,553 (GRCm39) K649E possibly damaging Het
Cnnm4 A G 1: 36,512,173 (GRCm39) probably benign Het
Cntrob C T 11: 69,200,853 (GRCm39) A503T possibly damaging Het
Ddx23 T C 15: 98,548,885 (GRCm39) I306V probably benign Het
Ep400 A G 5: 110,856,737 (GRCm39) probably benign Het
Gmps T C 3: 63,897,750 (GRCm39) V234A probably damaging Het
Hivep2 G T 10: 14,003,726 (GRCm39) G108V possibly damaging Het
Irgc T C 7: 24,132,727 (GRCm39) E30G probably damaging Het
Krt75 T C 15: 101,481,162 (GRCm39) Y204C probably damaging Het
Ms4a14 G A 19: 11,281,560 (GRCm39) L333F possibly damaging Het
Or51l4 A G 7: 103,404,183 (GRCm39) V203A probably benign Het
Or5an6 T A 19: 12,372,410 (GRCm39) M261K possibly damaging Het
Or8k27 A T 2: 86,275,788 (GRCm39) C179* probably null Het
Pitpnm3 G A 11: 71,983,389 (GRCm39) T80I probably benign Het
Pou2f2 T C 7: 24,799,371 (GRCm39) probably benign Het
Slc34a1 T C 13: 55,561,089 (GRCm39) L518P probably damaging Het
Sorbs1 T A 19: 40,351,706 (GRCm39) T235S probably damaging Het
Ssxa1 C T X: 20,985,224 (GRCm39) R41C probably benign Het
Syt2 A G 1: 134,671,317 (GRCm39) N142D possibly damaging Het
Taf3 A G 2: 9,957,738 (GRCm39) V143A probably damaging Het
Trav13-5 T C 14: 54,033,534 (GRCm39) probably benign Het
Tti1 A G 2: 157,848,932 (GRCm39) probably benign Het
Vmn2r13 T C 5: 109,319,645 (GRCm39) E445G possibly damaging Het
Zfp663 G T 2: 165,194,419 (GRCm39) T600K probably damaging Het
Zfp750 G A 11: 121,404,651 (GRCm39) Q75* 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
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
R8714:D3Ertd751e UTSW 3 41,700,998 (GRCm39) nonsense probably null
Posted On 2016-08-02