Incidental Mutation 'IGL03141:D5Ertd579e'
ID 410689
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol D5Ertd579e
Ensembl Gene ENSMUSG00000029190
Gene Name DNA segment, Chr 5, ERATO Doi 579, expressed
Synonyms 9030221A05Rik, A930018H20Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.317) question?
Stock # IGL03141
Quality Score
Status
Chromosome 5
Chromosomal Location 36757829-36853368 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 36770621 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 1258 (D1258V)
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: D1258V

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000031091
Gene: ENSMUSG00000029190
AA Change: D1258V

DomainStartEndE-ValueType
Pfam:DUF4603 23 1303 N/A PFAM
low complexity region 1365 1376 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000132383
AA Change: D151V
SMART Domains Protein: ENSMUSP00000116548
Gene: ENSMUSG00000029190
AA Change: D151V

DomainStartEndE-ValueType
Pfam:DUF4603 1 1181 N/A PFAM
low complexity region 1243 1254 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140063
SMART Domains Protein: ENSMUSP00000118804
Gene: ENSMUSG00000029190

DomainStartEndE-ValueType
Pfam:DUF4603 23 77 1e-37 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150088
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174019
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adm2 T C 15: 89,207,531 (GRCm39) I14T probably benign Het
AY761185 G A 8: 21,434,576 (GRCm39) R51C possibly damaging Het
Cenpt T A 8: 106,578,573 (GRCm39) T15S probably damaging Het
Cotl1 T C 8: 120,537,022 (GRCm39) K131E possibly damaging Het
Decr1 A T 4: 15,932,902 (GRCm39) I88K probably damaging Het
Efcab3 T C 11: 104,986,696 (GRCm39) S5408P probably damaging Het
Gsto2 T C 19: 47,863,312 (GRCm39) Y63H probably damaging Het
Lrp2 A T 2: 69,307,370 (GRCm39) D2896E probably damaging Het
Lrrc3b T G 14: 15,358,390 (GRCm38) D72A probably damaging Het
Npas1 T C 7: 16,199,063 (GRCm39) E164G probably damaging Het
Or6f1 T A 7: 85,970,909 (GRCm39) I84F probably damaging Het
Parp14 C A 16: 35,659,663 (GRCm39) R1653L probably benign Het
Polq A G 16: 36,837,720 (GRCm39) probably benign Het
Sec31b A T 19: 44,514,759 (GRCm39) probably benign Het
Slc7a11 C T 3: 50,336,334 (GRCm39) A337T possibly damaging Het
Snapc3 A G 4: 83,353,523 (GRCm39) I187M probably damaging Het
Sorcs2 T C 5: 36,222,699 (GRCm39) E352G probably benign Het
Spout1 A C 2: 30,065,067 (GRCm39) V311G probably damaging Het
Syne1 T A 10: 5,374,261 (GRCm39) K182M probably damaging Het
Vmn2r110 A G 17: 20,803,976 (GRCm39) S200P 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
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
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
Posted On 2016-08-02