Incidental Mutation 'R9715:D5Ertd579e'
ID 730388
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
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.317) question?
Stock # R9715 (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 36787029 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 113 (V113D)
Ref Sequence ENSEMBL: ENSMUSP00000031091 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031091]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000031091
AA Change: V113D

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000031091
Gene: ENSMUSG00000029190
AA Change: V113D

DomainStartEndE-ValueType
Pfam:DUF4603 23 1303 N/A PFAM
low complexity region 1365 1376 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc6 C T 7: 45,629,359 (GRCm39) V1323I probably damaging Het
Adam20 G A 8: 41,248,490 (GRCm39) R200H probably benign Het
Ahnak GATCTCTAT GAT 19: 8,984,393 (GRCm39) probably benign Het
Cbr3 A G 16: 93,481,941 (GRCm39) D99G probably benign Het
Ccdc17 T A 4: 116,455,090 (GRCm39) L215Q probably damaging Het
Cep350 A G 1: 155,751,107 (GRCm39) Y2022H probably benign Het
Cimip2c G C 5: 30,641,261 (GRCm39) D170H possibly damaging Het
Cnbd2 T C 2: 156,183,547 (GRCm39) S338P probably benign Het
Dhx30 A G 9: 109,916,718 (GRCm39) F570S probably damaging Het
Ephb1 T C 9: 101,848,384 (GRCm39) N679S probably damaging Het
Faxc T C 4: 21,993,307 (GRCm39) I317T probably damaging Het
Fgd5 T C 6: 91,965,290 (GRCm39) Y508H possibly damaging Het
Foxd2 G T 4: 114,765,195 (GRCm39) A275E unknown Het
Fut9 C A 4: 25,620,679 (GRCm39) S45I probably benign Het
Gm5148 T C 3: 37,768,801 (GRCm39) N140D unknown Het
Gpr37l1 C T 1: 135,089,391 (GRCm39) G225S probably damaging Het
Gramd1c G A 16: 43,825,840 (GRCm39) S107L possibly damaging Het
Gtpbp2 A G 17: 46,478,301 (GRCm39) D483G Het
Ik G A 18: 36,886,566 (GRCm39) R346H probably benign Het
Ino80e A T 7: 126,461,098 (GRCm39) Y50N unknown Het
Irag1 A T 7: 110,470,640 (GRCm39) S898T possibly damaging Het
Kbtbd2 A G 6: 56,756,566 (GRCm39) V390A probably benign Het
Limch1 A C 5: 67,156,360 (GRCm39) N276H probably damaging Het
Negr1 T G 3: 156,774,936 (GRCm39) probably null Het
Ngef G A 1: 87,431,010 (GRCm39) P269L probably damaging Het
Nlrp14 G A 7: 106,781,626 (GRCm39) M274I probably benign Het
Nr1d1 T C 11: 98,662,943 (GRCm39) I17V probably benign Het
Or10ad1b T A 15: 98,124,902 (GRCm39) D210V probably damaging Het
Or4k35 T C 2: 111,100,623 (GRCm39) I30V probably benign Het
Or5p64 A G 7: 107,855,198 (GRCm39) I49T probably benign Het
Ppip5k2 A G 1: 97,677,312 (GRCm39) V334A Het
Ppp1r9a G A 6: 5,045,936 (GRCm39) V467I probably damaging Het
Ppp2r2c A G 5: 37,097,488 (GRCm39) I225V possibly damaging Het
Ptpro A T 6: 137,345,108 (GRCm39) N38I probably damaging Het
Scn2a C A 2: 65,579,149 (GRCm39) Q1495K possibly damaging Het
Scn7a A T 2: 66,519,902 (GRCm39) Y1001N possibly damaging Het
Sfi1 ACA ACATCTTCCCAAAGCCAGTCA 11: 3,103,382 (GRCm39) probably benign Het
Sh3bgrl2 T A 9: 83,430,513 (GRCm39) M1K probably null Het
Slc25a12 C T 2: 71,109,899 (GRCm39) V516M probably benign Het
Sptbn4 A G 7: 27,091,000 (GRCm39) L1402P probably damaging Het
Styk1 CTCTTCATGATTTTCTT CTCTT 6: 131,278,612 (GRCm39) probably benign Het
Svop A G 5: 114,198,169 (GRCm39) S135P probably benign Het
Sycp2 G T 2: 178,035,957 (GRCm39) D243E probably damaging Het
Tcerg1 T C 18: 42,706,413 (GRCm39) F1030S probably damaging Het
Tecta T A 9: 42,286,596 (GRCm39) N687Y probably damaging Het
Tep1 A T 14: 51,081,759 (GRCm39) H1230Q Het
Tfap2b T C 1: 19,284,373 (GRCm39) S94P probably damaging Het
Tll2 C A 19: 41,092,238 (GRCm39) G533V probably damaging Het
Vmn2r55 A G 7: 12,402,061 (GRCm39) V409A probably damaging Het
Wdr41 A G 13: 95,145,373 (GRCm39) E194G probably damaging Het
Zan G T 5: 137,398,817 (GRCm39) S4182R unknown Het
Zfpl1 T C 19: 6,134,074 (GRCm39) Y40C probably damaging Het
Znrf3 C A 11: 5,232,454 (GRCm39) R257L possibly 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
R8233:D5Ertd579e UTSW 5 36,772,588 (GRCm39) missense probably damaging 0.99
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
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'- CAAGGACCTGAGTCTAAAACAATG -3'
(R):5'- TGCAGGGCTCCTTAAACTG -3'

Sequencing Primer
(F):5'- ATATTGAGTTCCAGGCCAGC -3'
(R):5'- CAGGGCTCCTTAAACTGGTTTTCTAG -3'
Posted On 2022-10-06