Incidental Mutation 'IGL01933:D5Ertd579e'
ID180491
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 #IGL01933
Quality Score
Status
Chromosome5
Chromosomal Location36600485-36696024 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 36615756 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 432 (T432A)
Ref Sequence ENSEMBL: ENSMUSP00000031091 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031091]
Predicted Effect probably benign
Transcript: ENSMUST00000031091
AA Change: T432A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000031091
Gene: ENSMUSG00000029190
AA Change: T432A

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
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201187
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik C A 9: 57,257,367 V575F possibly damaging Het
Abca2 T A 2: 25,444,111 V1800E probably damaging Het
Acacb C T 5: 114,184,190 probably benign Het
Adam34 C A 8: 43,651,532 G359W probably damaging Het
Ankrd42 G A 7: 92,605,285 T372I probably benign Het
Apc2 A G 10: 80,311,740 D847G probably damaging Het
Arap3 T A 18: 37,978,453 T1137S possibly damaging Het
Atp10b A C 11: 43,194,630 T279P probably damaging Het
Bmp2 T A 2: 133,554,658 M78K possibly damaging Het
C130026I21Rik A G 1: 85,254,186 probably benign Het
Ccdc61 T G 7: 18,892,558 M369L probably benign Het
Cep78 A T 19: 15,955,940 I758N probably benign Het
Ces2a A G 8: 104,741,415 *526W probably null Het
Cgnl1 C T 9: 71,645,483 probably benign Het
Clec14a A G 12: 58,268,318 Y173H probably damaging Het
Cntn4 G A 6: 106,694,384 S976N probably damaging Het
Col6a4 G A 9: 106,060,114 T1401I probably benign Het
Dixdc1 G A 9: 50,703,258 R163* probably null Het
Dmxl1 C A 18: 49,877,785 T1003K probably benign Het
Dnah1 G A 14: 31,310,915 R388W probably benign Het
Eci3 C T 13: 34,948,789 A202T probably damaging Het
Egr2 T C 10: 67,540,194 S220P probably damaging Het
Fntb C T 12: 76,920,106 P405S probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm26602 C A 10: 79,911,121 R236L probably benign Het
Hao2 T C 3: 98,880,332 probably benign Het
Irgm2 A T 11: 58,219,957 N170I possibly damaging Het
Klhl20 G A 1: 161,106,787 R221W probably damaging Het
Kmt2b A G 7: 30,569,514 probably null Het
Lrrc46 C T 11: 97,035,528 E181K probably benign Het
Lztr1 T A 16: 17,520,591 V226E probably damaging Het
Myh9 G T 15: 77,781,218 D684E probably benign Het
Myo7a T C 7: 98,083,142 T713A probably damaging Het
Nrap G T 19: 56,388,818 N62K probably damaging Het
Olfr1434 A T 19: 12,283,705 Y219F probably damaging Het
Olfr642 T C 7: 104,049,814 Y180C probably damaging Het
Osbp2 T C 11: 3,712,016 D708G probably damaging Het
Pcnx2 G A 8: 125,761,654 P1717L probably damaging Het
Pex1 A G 5: 3,633,789 D1095G probably damaging Het
Ptpn3 T C 4: 57,197,576 H771R probably benign Het
R3hcc1l G A 19: 42,562,950 A129T probably damaging Het
Rbm15 G A 3: 107,331,103 R660W probably damaging Het
Recql C T 6: 142,364,638 V489M probably benign Het
Sash1 A T 10: 8,751,133 S162R probably damaging Het
Sec11a T C 7: 80,935,062 I42M probably benign Het
Slc25a23 G A 17: 57,052,813 Q61* probably null Het
Son A T 16: 91,658,015 M1217L probably benign Het
Srgap2 T C 1: 131,411,855 N123S probably damaging Het
Ssh1 T C 5: 113,950,380 probably benign Het
St13 T C 15: 81,389,698 probably null Het
St3gal3 A T 4: 118,031,875 D57E probably damaging Het
Stk4 C T 2: 164,098,585 probably benign Het
Tln1 T A 4: 43,539,508 T1605S probably benign Het
Tln1 T C 4: 43,555,894 T107A possibly damaging Het
Tmem135 G T 7: 89,143,857 probably benign Het
Tmtc3 A G 10: 100,447,605 M696T probably benign Het
Trbv29 T A 6: 41,271,827 L97Q probably damaging Het
Trpc4ap A T 2: 155,639,535 F534I possibly damaging Het
Trpm8 T C 1: 88,326,405 Y117H probably damaging Het
Zfp608 T C 18: 54,987,799 T239A probably benign Het
Zmym5 T G 14: 56,804,160 H162P probably damaging Het
Other mutations in D5Ertd579e
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01433:D5Ertd579e APN 5 36618754 missense probably damaging 0.99
IGL01925:D5Ertd579e APN 5 36614284 missense possibly damaging 0.67
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 On2014-05-07