Incidental Mutation 'IGL01433:D5Ertd579e'
ID84237
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol D5Ertd579e
Ensembl Gene ENSMUSG00000029190
Gene NameDNA segment, Chr 5, ERATO Doi 579, expressed
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.250) question?
Stock #IGL01433
Quality Score
Status
Chromosome5
Chromosomal Location36600485-36696024 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 36618754 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 168 (D168E)
Ref Sequence ENSEMBL: ENSMUSP00000031091 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031091]
Predicted Effect probably damaging
Transcript: ENSMUST00000031091
AA Change: D168E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000031091
Gene: ENSMUSG00000029190
AA Change: D168E

DomainStartEndE-ValueType
Pfam:DUF4603 23 1303 N/A PFAM
low complexity region 1365 1376 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: ENSMUST00000201187
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700011H14Rik G T 14: 49,235,884 T128K probably benign Het
4932438A13Rik T G 3: 36,887,770 S241R probably damaging Het
9030624J02Rik A G 7: 118,774,051 probably null Het
Actrt3 C T 3: 30,598,039 G302D probably damaging Het
Adam19 T C 11: 46,112,783 L146P probably damaging Het
Adcy8 T A 15: 64,737,414 Y852F possibly damaging Het
Arfgef1 T C 1: 10,153,432 T1520A probably damaging Het
Atp8b1 C T 18: 64,573,519 V199I probably benign Het
Avl9 A G 6: 56,753,397 D575G probably damaging Het
Bcam C A 7: 19,760,182 V395L possibly damaging Het
Cgn T A 3: 94,779,459 N178Y probably damaging Het
Dnah17 G T 11: 118,049,934 T3288K probably damaging Het
Ednrb A T 14: 103,843,190 I96N probably damaging Het
Gdpd3 A G 7: 126,771,184 I264V possibly damaging Het
Itih4 T C 14: 30,895,448 V575A probably benign Het
Jhy G A 9: 40,917,216 R465C possibly damaging Het
Kcna4 C T 2: 107,296,733 S604F probably damaging Het
Kcnj6 A G 16: 94,832,955 V99A probably benign Het
Kdm2a A G 19: 4,342,860 I489T possibly damaging Het
Kif13a A G 13: 46,772,908 S241P probably damaging Het
Lax1 T C 1: 133,680,399 I201M probably benign Het
Lzic T A 4: 149,488,147 S65T probably benign Het
March9 T C 10: 127,056,693 T309A probably benign Het
Ndufc1 T C 3: 51,407,376 K70E possibly damaging Het
Olfr635 A T 7: 103,979,332 I53F probably damaging Het
Optn T C 2: 5,027,144 K504R probably benign Het
Pagr1a A G 7: 127,015,475 probably benign Het
Pold1 G A 7: 44,543,232 probably benign Het
Ptprq A G 10: 107,576,880 I1786T probably damaging Het
Rgs20 T C 1: 5,070,077 D34G possibly damaging Het
Rnps1 T C 17: 24,424,545 probably null Het
Rpgrip1 T C 14: 52,126,377 V261A probably damaging Het
Sfxn1 A G 13: 54,093,916 N220S probably benign Het
Slc35f1 T A 10: 53,073,446 probably benign Het
Slc5a4b T C 10: 76,070,495 probably benign Het
Snx19 A G 9: 30,428,771 I402V possibly damaging Het
Spaca6 T C 17: 17,831,167 V35A probably benign Het
Taar2 A G 10: 23,940,759 T66A probably benign Het
Tanc2 C T 11: 105,810,522 H288Y possibly damaging Het
Tbc1d31 A G 15: 57,940,768 Q393R probably benign Het
Trpm1 A G 7: 64,204,528 Y133C probably damaging Het
Vmn2r105 T C 17: 20,228,555 D120G probably benign Het
Vmn2r56 C A 7: 12,715,614 M232I probably benign Het
Zfp251 C T 15: 76,854,555 V113I probably benign Het
Other mutations in D5Ertd579e
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01925:D5Ertd579e APN 5 36614284 missense possibly damaging 0.67
IGL01933:D5Ertd579e APN 5 36615756 missense probably benign
IGL02164:D5Ertd579e APN 5 36614959 missense probably damaging 1.00
IGL02399:D5Ertd579e APN 5 36616185 missense probably damaging 1.00
IGL02896:D5Ertd579e APN 5 36613982 missense possibly damaging 0.70
IGL03141:D5Ertd579e APN 5 36613277 missense possibly damaging 0.94
IGL03235:D5Ertd579e APN 5 36618828 splice site probably benign
R0201:D5Ertd579e UTSW 5 36616465 missense probably damaging 1.00
R0377:D5Ertd579e UTSW 5 36604567 missense probably benign 0.12
R0830:D5Ertd579e UTSW 5 36613757 missense probably damaging 1.00
R0926:D5Ertd579e UTSW 5 36672866 missense probably damaging 1.00
R1350:D5Ertd579e UTSW 5 36613737 missense probably damaging 1.00
R1448:D5Ertd579e UTSW 5 36602739 missense probably benign
R1672:D5Ertd579e UTSW 5 36613277 missense possibly damaging 0.50
R1676:D5Ertd579e UTSW 5 36616109 missense probably benign 0.01
R1693:D5Ertd579e UTSW 5 36614097 missense probably damaging 0.98
R1698:D5Ertd579e UTSW 5 36604530 missense probably benign
R1868:D5Ertd579e UTSW 5 36616427 missense probably damaging 0.99
R1909:D5Ertd579e UTSW 5 36614058 missense probably benign 0.21
R2034:D5Ertd579e UTSW 5 36613538 nonsense probably null
R2080:D5Ertd579e UTSW 5 36616206 missense probably benign 0.01
R2105:D5Ertd579e UTSW 5 36613449 missense probably benign 0.12
R2197:D5Ertd579e UTSW 5 36614793 missense possibly damaging 0.69
R4212:D5Ertd579e UTSW 5 36614479 missense probably damaging 0.99
R4452:D5Ertd579e UTSW 5 36616470 missense probably damaging 1.00
R4626:D5Ertd579e UTSW 5 36614559 missense possibly damaging 0.92
R4804:D5Ertd579e UTSW 5 36629652 splice site probably null
R4898:D5Ertd579e UTSW 5 36614941 missense probably damaging 0.99
R4917:D5Ertd579e UTSW 5 36615816 missense probably damaging 1.00
R4960:D5Ertd579e UTSW 5 36616227 nonsense probably null
R4973:D5Ertd579e UTSW 5 36672905 missense probably benign
R5092:D5Ertd579e UTSW 5 36602703 missense probably benign 0.18
R5474:D5Ertd579e UTSW 5 36615257 missense probably damaging 1.00
R5475:D5Ertd579e UTSW 5 36615257 missense probably damaging 1.00
R5476:D5Ertd579e UTSW 5 36615257 missense probably damaging 1.00
R5477:D5Ertd579e UTSW 5 36615257 missense probably damaging 1.00
R5801:D5Ertd579e UTSW 5 36604569 missense probably damaging 1.00
R6019:D5Ertd579e UTSW 5 36629692 missense possibly damaging 0.90
R6184:D5Ertd579e UTSW 5 36629783 missense probably damaging 0.99
R6213:D5Ertd579e UTSW 5 36602634 missense probably damaging 1.00
R6244:D5Ertd579e UTSW 5 36615276 missense probably damaging 0.98
R6276:D5Ertd579e UTSW 5 36604514 missense possibly damaging 0.66
R6285:D5Ertd579e UTSW 5 36615577 missense probably damaging 1.00
R6358:D5Ertd579e UTSW 5 36616236 splice site probably null
R6875:D5Ertd579e UTSW 5 36604657 splice site probably null
R6967:D5Ertd579e UTSW 5 36615756 missense probably benign
R7139:D5Ertd579e UTSW 5 36613976 missense probably damaging 1.00
R7329:D5Ertd579e UTSW 5 36616395 missense probably benign 0.21
R7464:D5Ertd579e UTSW 5 36613785 missense probably damaging 0.99
R7664:D5Ertd579e UTSW 5 36614617 missense probably benign 0.00
R7762:D5Ertd579e UTSW 5 36613381 missense
R7951:D5Ertd579e UTSW 5 36615173 missense probably benign
R8175:D5Ertd579e UTSW 5 36615470 missense probably damaging 1.00
R8217:D5Ertd579e UTSW 5 36614058 missense probably benign 0.00
R8233:D5Ertd579e UTSW 5 36615244 missense probably damaging 0.99
R8281:D5Ertd579e UTSW 5 36613320 missense
R8398:D5Ertd579e UTSW 5 36614277 nonsense probably null
RF022:D5Ertd579e UTSW 5 36614662 missense probably damaging 1.00
X0019:D5Ertd579e UTSW 5 36613958 missense probably damaging 1.00
Z1176:D5Ertd579e UTSW 5 36615762 missense probably benign 0.00
Posted On2013-11-11