Incidental Mutation 'IGL02016:Dna2'
ID183760
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dna2
Ensembl Gene ENSMUSG00000036875
Gene NameDNA replication helicase/nuclease 2
SynonymsE130315B21Rik, Dna2l
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02016
Quality Score
Status
Chromosome10
Chromosomal Location62947026-62974185 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 62960412 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 540 (N540S)
Ref Sequence ENSEMBL: ENSMUSP00000115750 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092462] [ENSMUST00000131422]
Predicted Effect probably benign
Transcript: ENSMUST00000092462
AA Change: N540S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000090119
Gene: ENSMUSG00000036875
AA Change: N540S

DomainStartEndE-ValueType
low complexity region 4 15 N/A INTRINSIC
Pfam:Dna2 68 284 4.7e-75 PFAM
Pfam:PDDEXK_1 125 404 4.3e-13 PFAM
Pfam:AAA_11 626 799 6.7e-42 PFAM
Pfam:AAA_30 626 848 1.1e-15 PFAM
Pfam:AAA_19 633 709 5.7e-9 PFAM
Pfam:AAA_12 806 944 4.1e-20 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129785
Predicted Effect probably benign
Transcript: ENSMUST00000131422
AA Change: N540S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000115750
Gene: ENSMUSG00000036875
AA Change: N540S

DomainStartEndE-ValueType
low complexity region 4 15 N/A INTRINSIC
Pfam:Dna2 72 283 8.2e-65 PFAM
Pfam:PDDEXK_1 125 404 3e-11 PFAM
Pfam:AAA_11 626 732 7.8e-17 PFAM
Pfam:AAA_30 626 848 1.3e-15 PFAM
Pfam:AAA_19 633 709 6.2e-9 PFAM
Pfam:AAA_11 722 799 1.2e-21 PFAM
Pfam:AAA_12 806 1020 5.3e-57 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the DNA2/NAM7 helicase family. The encoded protein is a conserved helicase/nuclease involved in the maintenance of mitochondrial and nuclear DNA stability. Mutations in this gene are associated with autosomal dominant progressive external ophthalmoplegia-6 (PEOA6) and Seckel syndrome 8. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality before E7.5. Mice heterozygous for the allele exhibit shortened telomeres, chromosome segregation errors and increased tumor incidence associated with aneuploidy. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810024B03Rik C A 2: 127,186,955 G108V probably damaging Het
4931406P16Rik A G 7: 34,239,101 M791T possibly damaging Het
A2ml1 T C 6: 128,558,335 E804G probably damaging Het
Abcg4 G A 9: 44,287,350 T35M probably damaging Het
Acad9 A T 3: 36,088,486 probably null Het
Adgrv1 T C 13: 81,397,453 D5571G probably damaging Het
App T A 16: 85,056,521 D223V unknown Het
Arhgap30 A G 1: 171,407,747 E563G probably damaging Het
Atp6v1e2 A T 17: 86,944,394 V192D probably damaging Het
Atr G A 9: 95,927,175 V1969I probably benign Het
Bean1 T C 8: 104,210,918 L43S possibly damaging Het
Cand1 A G 10: 119,212,568 V436A probably damaging Het
Card6 T C 15: 5,108,256 I39V probably damaging Het
Ccdc73 A G 2: 104,975,616 T300A probably benign Het
Ccdc88c T C 12: 100,941,207 T962A possibly damaging Het
Chd6 G T 2: 160,983,678 L1169I probably damaging Het
Chrna7 A T 7: 63,103,835 V312E probably damaging Het
Elavl2 T C 4: 91,260,935 E209G probably damaging Het
Elmo2 A G 2: 165,295,012 probably null Het
Fto A T 8: 91,666,406 R494* probably null Het
Gm13088 T A 4: 143,655,319 E269V possibly damaging Het
Gm9966 A T 7: 95,958,807 T112S unknown Het
Gtf3c1 A C 7: 125,668,039 I940S probably damaging Het
Hecw2 C A 1: 53,831,543 Q1426H possibly damaging Het
Iars2 A C 1: 185,303,306 L579R probably damaging Het
Ifih1 A C 2: 62,606,984 M537R probably benign Het
Kcnmb4 A G 10: 116,446,462 probably benign Het
Large2 A G 2: 92,369,543 V175A possibly damaging Het
Mad2l1bp A G 17: 46,153,502 probably benign Het
Muc20 A T 16: 32,797,352 F14Y possibly damaging Het
Myom2 A G 8: 15,125,195 E1258G probably benign Het
Olfr1066 A T 2: 86,455,497 M258K probably damaging Het
Parp1 A T 1: 180,598,951 probably null Het
Prkra A T 2: 76,643,309 probably null Het
Ror2 C T 13: 53,110,728 S764N probably damaging Het
Scd1 C T 19: 44,400,307 G235S probably benign Het
Sdk1 A G 5: 142,034,429 H654R possibly damaging Het
Sesn3 A G 9: 14,320,337 Y188C probably damaging Het
Slc26a4 T C 12: 31,535,667 M461V probably damaging Het
Slc28a2 A G 2: 122,455,341 I439V probably benign Het
Smc5 T A 19: 23,273,712 N36I probably benign Het
Smurf2 A G 11: 106,822,678 F745S probably damaging Het
Spata22 A G 11: 73,336,031 N65S possibly damaging Het
Tanc1 A G 2: 59,843,590 T1680A probably benign Het
Tnxb G A 17: 34,672,275 V531M probably damaging Het
Trpm3 T G 19: 22,902,069 Y727* probably null Het
Tssk1 A T 16: 17,894,894 Y181F probably damaging Het
Ucp3 T A 7: 100,480,559 V136E probably damaging Het
Uqcrfs1 A C 13: 30,545,114 V45G probably benign Het
Uvrag A G 7: 99,099,442 I101T probably benign Het
Vmn1r206 A T 13: 22,620,164 L291Q probably damaging Het
Wnk2 T A 13: 49,056,905 I1813F probably damaging Het
Zbtb3 T A 19: 8,803,215 V64E probably damaging Het
Zeb2 A G 2: 44,988,874 I1115T possibly damaging Het
Zfp280b C T 10: 76,039,111 L275F possibly damaging Het
Other mutations in Dna2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00329:Dna2 APN 10 62966443 missense probably damaging 1.00
IGL00972:Dna2 APN 10 62950823 missense probably benign 0.13
IGL01511:Dna2 APN 10 62955314 missense possibly damaging 0.69
IGL01600:Dna2 APN 10 62950806 missense probably damaging 0.96
IGL02049:Dna2 APN 10 62957036 missense probably damaging 0.99
IGL02069:Dna2 APN 10 62958994 missense probably benign 0.00
IGL02438:Dna2 APN 10 62957062 missense possibly damaging 0.92
IGL02743:Dna2 APN 10 62957042 missense possibly damaging 0.90
IGL02800:Dna2 APN 10 62961725 critical splice donor site probably null
IGL02936:Dna2 APN 10 62957100 missense probably damaging 1.00
supercoiled UTSW 10 62971993 splice site probably null
R0308:Dna2 UTSW 10 62956974 missense probably damaging 0.98
R0528:Dna2 UTSW 10 62958131 missense probably benign 0.00
R0669:Dna2 UTSW 10 62956989 missense probably damaging 1.00
R0697:Dna2 UTSW 10 62949341 missense probably benign 0.01
R0831:Dna2 UTSW 10 62959329 nonsense probably null
R0839:Dna2 UTSW 10 62969782 missense probably damaging 1.00
R0991:Dna2 UTSW 10 62949187 missense probably benign 0.08
R0992:Dna2 UTSW 10 62949187 missense probably benign 0.08
R1054:Dna2 UTSW 10 62963823 missense possibly damaging 0.84
R1082:Dna2 UTSW 10 62949187 missense probably benign 0.08
R1084:Dna2 UTSW 10 62949187 missense probably benign 0.08
R1184:Dna2 UTSW 10 62959198 missense probably benign 0.00
R1193:Dna2 UTSW 10 62949187 missense probably benign 0.08
R1196:Dna2 UTSW 10 62949187 missense probably benign 0.08
R1226:Dna2 UTSW 10 62960424 missense possibly damaging 0.88
R1561:Dna2 UTSW 10 62949187 missense probably benign 0.08
R1562:Dna2 UTSW 10 62949187 missense probably benign 0.08
R1566:Dna2 UTSW 10 62949187 missense probably benign 0.08
R1568:Dna2 UTSW 10 62949187 missense probably benign 0.08
R1598:Dna2 UTSW 10 62961657 missense probably damaging 0.99
R1768:Dna2 UTSW 10 62957084 missense probably benign 0.01
R2075:Dna2 UTSW 10 62969822 missense probably benign 0.20
R3125:Dna2 UTSW 10 62949202 missense possibly damaging 0.66
R3763:Dna2 UTSW 10 62966797 missense probably damaging 1.00
R4059:Dna2 UTSW 10 62956989 missense probably damaging 1.00
R5002:Dna2 UTSW 10 62950842 missense probably damaging 1.00
R5160:Dna2 UTSW 10 62947154 missense probably benign
R5567:Dna2 UTSW 10 62966673 missense possibly damaging 0.89
R5775:Dna2 UTSW 10 62949242 missense possibly damaging 0.94
R5984:Dna2 UTSW 10 62962506 critical splice donor site probably null
R6604:Dna2 UTSW 10 62967743 critical splice donor site probably null
R6702:Dna2 UTSW 10 62973294 missense possibly damaging 0.89
R6703:Dna2 UTSW 10 62973294 missense possibly damaging 0.89
R6812:Dna2 UTSW 10 62959341 missense probably benign 0.18
R6820:Dna2 UTSW 10 62964904 missense possibly damaging 0.93
R6919:Dna2 UTSW 10 62957003 missense probably damaging 1.00
R7029:Dna2 UTSW 10 62963994 missense probably damaging 1.00
R7082:Dna2 UTSW 10 62954317 missense possibly damaging 0.71
R7508:Dna2 UTSW 10 62971993 splice site probably null
R7513:Dna2 UTSW 10 62971968 missense probably benign 0.00
R7605:Dna2 UTSW 10 62960275 missense probably benign 0.02
R7742:Dna2 UTSW 10 62973294 missense probably benign 0.31
R7868:Dna2 UTSW 10 62969864 missense probably benign 0.00
R7983:Dna2 UTSW 10 62955394 missense probably benign 0.04
R8498:Dna2 UTSW 10 62973315 missense probably benign 0.12
R8508:Dna2 UTSW 10 62950894 missense probably damaging 1.00
RF007:Dna2 UTSW 10 62966695 missense probably damaging 0.99
Z1177:Dna2 UTSW 10 62962424 missense probably benign 0.03
Posted On2014-05-07