Incidental Mutation 'R9413:D5Ertd579e'
ID 711894
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 # R9413 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 36757829-36853368 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 36772278 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 706 (S706P)
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: S706P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000031091
Gene: ENSMUSG00000029190
AA Change: S706P

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 97% (35/36)
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 A T 7: 120,126,422 (GRCm39) T1194S probably benign Het
Akr7a5 A T 4: 139,038,059 (GRCm39) probably benign Het
Ap3b2 G T 7: 81,127,757 (GRCm39) P140T possibly damaging Het
Ap3s1 T C 18: 46,887,531 (GRCm39) probably null Het
Arrdc2 C T 8: 71,288,892 (GRCm39) R381H probably damaging Het
Atg13 T C 2: 91,511,970 (GRCm39) D286G probably benign Het
C1qtnf4 T C 2: 90,720,648 (GRCm39) F307S probably damaging Het
Cdk5rap1 A T 2: 154,207,880 (GRCm39) probably null Het
Chsy3 C T 18: 59,309,170 (GRCm39) A141V possibly damaging Het
Creb3l1 C T 2: 91,822,231 (GRCm39) probably null Het
Ell2 A G 13: 75,917,705 (GRCm39) D545G Het
Ephb6 T C 6: 41,591,509 (GRCm39) L222P Het
Flnc G A 6: 29,441,484 (GRCm39) R422Q probably benign Het
Gm6619 A T 6: 131,468,370 (GRCm39) D167V unknown Het
Gucy2c T C 6: 136,700,771 (GRCm39) D581G possibly damaging Het
Hectd1 G A 12: 51,792,880 (GRCm39) R2471* probably null Het
Kif1a A T 1: 92,949,019 (GRCm39) M1501K probably benign Het
Mycbpap A G 11: 94,392,321 (GRCm39) V390A probably damaging Het
Or2n1d A T 17: 38,646,320 (GRCm39) T91S possibly damaging Het
Pex3 A G 10: 13,410,454 (GRCm39) Y236H probably damaging Het
Pglyrp3 G T 3: 91,930,106 (GRCm39) A91S probably damaging Het
Ppp1ca T C 19: 4,244,897 (GRCm39) S292P probably damaging Het
Prkci T C 3: 31,097,915 (GRCm39) V455A probably damaging Het
Prrx1 A G 1: 163,140,182 (GRCm39) V8A probably benign Het
Psd4 C T 2: 24,287,472 (GRCm39) T468I probably benign Het
Rnf213 A G 11: 119,357,059 (GRCm39) E4203G Het
Snrnp27 T C 6: 86,653,255 (GRCm39) D121G possibly damaging Het
Spag6 A T 2: 18,739,029 (GRCm39) M320L probably benign Het
Spata16 T A 3: 26,978,486 (GRCm39) M484K possibly damaging Het
Trim69 G A 2: 122,009,083 (GRCm39) W381* probably null Het
Tubgcp3 A C 8: 12,674,885 (GRCm39) I745S probably damaging Het
Ubxn2b A G 4: 6,204,607 (GRCm39) D156G probably damaging Het
Vmn2r103 A G 17: 20,032,158 (GRCm39) N644S 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
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'- TGCTGGCAAGTTTCATCCTG -3'
(R):5'- GCAATCAAGAGCCCTTTTCC -3'

Sequencing Primer
(F):5'- GACTCTGGGAACCACATAAT -3'
(R):5'- GAGCCCTTTTCCAATATTAATGAAGG -3'
Posted On 2022-05-16