Incidental Mutation 'R8233:D5Ertd579e'
ID 637220
Institutional Source Beutler Lab
Gene Symbol D5Ertd579e
Ensembl Gene ENSMUSG00000029190
Gene Name DNA segment, Chr 5, ERATO Doi 579, expressed
Synonyms 9030221A05Rik, A930018H20Rik
MMRRC Submission 067665-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.317) question?
Stock # R8233 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 36757829-36853368 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 36772588 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 602 (D602E)
Ref Sequence ENSEMBL: ENSMUSP00000031091 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031091]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000031091
AA Change: D602E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000031091
Gene: ENSMUSG00000029190
AA Change: D602E

DomainStartEndE-ValueType
Pfam:DUF4603 23 1303 N/A PFAM
low complexity region 1365 1376 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000132383
SMART Domains Protein: ENSMUSP00000116548
Gene: ENSMUSG00000029190

DomainStartEndE-ValueType
Pfam:DUF4603 1 1181 N/A PFAM
low complexity region 1243 1254 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930503L19Rik A T 18: 70,602,687 (GRCm39) V42E probably benign Het
Abca12 T C 1: 71,390,916 (GRCm39) E153G probably benign Het
Adamts20 A C 15: 94,189,533 (GRCm39) I1440S probably benign Het
Aspm T A 1: 139,385,042 (GRCm39) S229T probably benign Het
Atp2b2 A T 6: 113,742,680 (GRCm39) probably null Het
Cd101 G T 3: 100,900,989 (GRCm39) H1032N unknown Het
Col6a2 A G 10: 76,444,540 (GRCm39) probably null Het
Crot A T 5: 9,026,027 (GRCm39) I320K possibly damaging Het
Degs1 A G 1: 182,107,160 (GRCm39) V69A probably benign Het
Dgkz A G 2: 91,769,994 (GRCm39) S557P probably damaging Het
Fat1 T A 8: 45,405,055 (GRCm39) L602Q Het
Gli2 A T 1: 118,772,167 (GRCm39) Y513N probably damaging Het
H2-Q10 A G 17: 35,781,983 (GRCm39) T202A probably benign Het
Hnrnpa3 A G 2: 75,492,860 (GRCm39) N195D probably benign Het
Ifna1 C T 4: 88,768,628 (GRCm39) T102I possibly damaging Het
Igfbp3 T A 11: 7,160,152 (GRCm39) H167L probably benign Het
Igfn1 T C 1: 135,895,782 (GRCm39) T1595A probably benign Het
Krt14 A G 11: 100,094,178 (GRCm39) V472A probably damaging Het
Lrrc74b T A 16: 17,376,089 (GRCm39) H187L probably benign Het
Magoh T G 4: 107,738,132 (GRCm39) V44G possibly damaging Het
Mbnl1 A T 3: 60,532,551 (GRCm39) I274L probably benign Het
Or13a27 T G 7: 139,925,411 (GRCm39) M164L probably benign Het
Or4c108 C T 2: 88,804,082 (GRCm39) R51H probably benign Het
Pdcd1 A G 1: 93,967,142 (GRCm39) V252A probably damaging Het
Peg10 C CTCA 6: 4,756,453 (GRCm39) probably benign Het
Plcxd3 A G 15: 4,546,317 (GRCm39) D107G possibly damaging Het
Polr2m T A 9: 71,390,866 (GRCm39) D112V probably benign Het
Ptprn A T 1: 75,229,796 (GRCm39) M701K probably damaging Het
Rxrb A G 17: 34,255,879 (GRCm39) D421G possibly damaging Het
Slfn4 A G 11: 83,078,355 (GRCm39) E381G probably damaging Het
Son AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG 16: 91,457,222 (GRCm39) probably benign Het
Srgap1 A G 10: 121,661,341 (GRCm39) I530T probably damaging Het
Stmn4 A G 14: 66,595,341 (GRCm39) H122R probably damaging Het
Sycp2 T C 2: 177,998,427 (GRCm39) E1031G probably damaging Het
Tle1 T C 4: 72,043,181 (GRCm39) T553A probably benign Het
Tnik T A 3: 28,609,086 (GRCm39) W217R unknown Het
Tyrp1 T C 4: 80,769,190 (GRCm39) V161A unknown Het
Usp29 T A 7: 6,965,406 (GRCm39) F416L probably benign Het
Usp45 T C 4: 21,781,736 (GRCm39) V34A probably benign Het
Vmn1r119 A G 7: 20,745,932 (GRCm39) V150A probably damaging Het
Other mutations in D5Ertd579e
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01433:D5Ertd579e APN 5 36,776,098 (GRCm39) missense probably damaging 0.99
IGL01925:D5Ertd579e APN 5 36,771,628 (GRCm39) missense possibly damaging 0.67
IGL01933:D5Ertd579e APN 5 36,773,100 (GRCm39) missense probably benign
IGL02164:D5Ertd579e APN 5 36,772,303 (GRCm39) missense probably damaging 1.00
IGL02399:D5Ertd579e APN 5 36,773,529 (GRCm39) missense probably damaging 1.00
IGL02896:D5Ertd579e APN 5 36,771,326 (GRCm39) missense possibly damaging 0.70
IGL03141:D5Ertd579e APN 5 36,770,621 (GRCm39) missense possibly damaging 0.94
IGL03235:D5Ertd579e APN 5 36,776,172 (GRCm39) splice site probably benign
R0201:D5Ertd579e UTSW 5 36,773,809 (GRCm39) missense probably damaging 1.00
R0377:D5Ertd579e UTSW 5 36,761,911 (GRCm39) missense probably benign 0.12
R0830:D5Ertd579e UTSW 5 36,771,101 (GRCm39) missense probably damaging 1.00
R0926:D5Ertd579e UTSW 5 36,830,210 (GRCm39) missense probably damaging 1.00
R1350:D5Ertd579e UTSW 5 36,771,081 (GRCm39) missense probably damaging 1.00
R1448:D5Ertd579e UTSW 5 36,760,083 (GRCm39) missense probably benign
R1672:D5Ertd579e UTSW 5 36,770,621 (GRCm39) missense possibly damaging 0.50
R1676:D5Ertd579e UTSW 5 36,773,453 (GRCm39) missense probably benign 0.01
R1693:D5Ertd579e UTSW 5 36,771,441 (GRCm39) missense probably damaging 0.98
R1698:D5Ertd579e UTSW 5 36,761,874 (GRCm39) missense probably benign
R1868:D5Ertd579e UTSW 5 36,773,771 (GRCm39) missense probably damaging 0.99
R1909:D5Ertd579e UTSW 5 36,771,402 (GRCm39) missense probably benign 0.21
R2034:D5Ertd579e UTSW 5 36,770,882 (GRCm39) nonsense probably null
R2080:D5Ertd579e UTSW 5 36,773,550 (GRCm39) missense probably benign 0.01
R2105:D5Ertd579e UTSW 5 36,770,793 (GRCm39) missense probably benign 0.12
R2197:D5Ertd579e UTSW 5 36,772,137 (GRCm39) missense possibly damaging 0.69
R4212:D5Ertd579e UTSW 5 36,771,823 (GRCm39) missense probably damaging 0.99
R4452:D5Ertd579e UTSW 5 36,773,814 (GRCm39) missense probably damaging 1.00
R4626:D5Ertd579e UTSW 5 36,771,903 (GRCm39) missense possibly damaging 0.92
R4804:D5Ertd579e UTSW 5 36,786,996 (GRCm39) splice site probably null
R4898:D5Ertd579e UTSW 5 36,772,285 (GRCm39) missense probably damaging 0.99
R4917:D5Ertd579e UTSW 5 36,773,160 (GRCm39) missense probably damaging 1.00
R4960:D5Ertd579e UTSW 5 36,773,571 (GRCm39) nonsense probably null
R4973:D5Ertd579e UTSW 5 36,830,249 (GRCm39) missense probably benign
R5092:D5Ertd579e UTSW 5 36,760,047 (GRCm39) missense probably benign 0.18
R5474:D5Ertd579e UTSW 5 36,772,601 (GRCm39) missense probably damaging 1.00
R5475:D5Ertd579e UTSW 5 36,772,601 (GRCm39) missense probably damaging 1.00
R5476:D5Ertd579e UTSW 5 36,772,601 (GRCm39) missense probably damaging 1.00
R5477:D5Ertd579e UTSW 5 36,772,601 (GRCm39) missense probably damaging 1.00
R5801:D5Ertd579e UTSW 5 36,761,913 (GRCm39) missense probably damaging 1.00
R6019:D5Ertd579e UTSW 5 36,787,036 (GRCm39) missense possibly damaging 0.90
R6184:D5Ertd579e UTSW 5 36,787,127 (GRCm39) missense probably damaging 0.99
R6213:D5Ertd579e UTSW 5 36,759,978 (GRCm39) missense probably damaging 1.00
R6244:D5Ertd579e UTSW 5 36,772,620 (GRCm39) missense probably damaging 0.98
R6276:D5Ertd579e UTSW 5 36,761,858 (GRCm39) missense possibly damaging 0.66
R6285:D5Ertd579e UTSW 5 36,772,921 (GRCm39) missense probably damaging 1.00
R6358:D5Ertd579e UTSW 5 36,773,580 (GRCm39) splice site probably null
R6875:D5Ertd579e UTSW 5 36,762,001 (GRCm39) splice site probably null
R6967:D5Ertd579e UTSW 5 36,773,100 (GRCm39) missense probably benign
R7139:D5Ertd579e UTSW 5 36,771,320 (GRCm39) missense probably damaging 1.00
R7329:D5Ertd579e UTSW 5 36,773,739 (GRCm39) missense probably benign 0.21
R7464:D5Ertd579e UTSW 5 36,771,129 (GRCm39) missense probably damaging 0.99
R7664:D5Ertd579e UTSW 5 36,771,961 (GRCm39) missense probably benign 0.00
R7762:D5Ertd579e UTSW 5 36,770,725 (GRCm39) missense
R7951:D5Ertd579e UTSW 5 36,772,517 (GRCm39) missense probably benign
R8175:D5Ertd579e UTSW 5 36,772,814 (GRCm39) missense probably damaging 1.00
R8217:D5Ertd579e UTSW 5 36,771,402 (GRCm39) missense probably benign 0.00
R8281:D5Ertd579e UTSW 5 36,770,664 (GRCm39) missense
R8398:D5Ertd579e UTSW 5 36,771,621 (GRCm39) nonsense probably null
R8673:D5Ertd579e UTSW 5 36,830,151 (GRCm39) missense probably benign 0.03
R8771:D5Ertd579e UTSW 5 36,761,940 (GRCm39) missense probably damaging 1.00
R8853:D5Ertd579e UTSW 5 36,787,024 (GRCm39) missense probably damaging 0.99
R9106:D5Ertd579e UTSW 5 36,773,682 (GRCm39) missense probably benign 0.39
R9121:D5Ertd579e UTSW 5 36,772,778 (GRCm39) missense probably damaging 1.00
R9413:D5Ertd579e UTSW 5 36,772,278 (GRCm39) missense probably damaging 1.00
R9569:D5Ertd579e UTSW 5 36,759,979 (GRCm39) missense probably damaging 0.97
R9715:D5Ertd579e UTSW 5 36,787,029 (GRCm39) missense possibly damaging 0.94
R9723:D5Ertd579e UTSW 5 36,772,284 (GRCm39) missense probably damaging 0.99
RF022:D5Ertd579e UTSW 5 36,772,006 (GRCm39) missense probably damaging 1.00
X0019:D5Ertd579e UTSW 5 36,771,302 (GRCm39) missense probably damaging 1.00
Z1176:D5Ertd579e UTSW 5 36,773,106 (GRCm39) missense probably benign 0.00
Z1189:D5Ertd579e UTSW 5 36,772,250 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATGTTCACTTCCCAAGTTGAGTG -3'
(R):5'- TGCCTCAGAAACAATGCAAGG -3'

Sequencing Primer
(F):5'- CTTCCCAAGTTGAGTGTTTCAAAAG -3'
(R):5'- AGTCGGATTTTGAATATGATTCGAC -3'
Posted On 2020-07-13