Incidental Mutation 'IGL00556:Atad2'
ID5838
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Atad2
Ensembl Gene ENSMUSG00000022360
Gene NameATPase family, AAA domain containing 2
Synonyms2610509G12Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.355) question?
Stock #IGL00556
Quality Score
Status
Chromosome15
Chromosomal Location58094047-58135082 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 58100080 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 1047 (I1047T)
Ref Sequence ENSEMBL: ENSMUSP00000043691 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038194]
Predicted Effect probably damaging
Transcript: ENSMUST00000038194
AA Change: I1047T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000043691
Gene: ENSMUSG00000022360
AA Change: I1047T

DomainStartEndE-ValueType
low complexity region 12 35 N/A INTRINSIC
low complexity region 36 47 N/A INTRINSIC
low complexity region 184 199 N/A INTRINSIC
low complexity region 237 268 N/A INTRINSIC
low complexity region 337 349 N/A INTRINSIC
AAA 438 579 9.93e-21 SMART
low complexity region 622 633 N/A INTRINSIC
SCOP:d1e32a2 751 912 5e-4 SMART
low complexity region 924 947 N/A INTRINSIC
BROMO 955 1067 1.2e-19 SMART
low complexity region 1213 1235 N/A INTRINSIC
SMART Domains
(Predicted Sequence)

DomainStartEndE-ValueType
low complexity region 12 35 N/A INTRINSIC
low complexity region 36 47 N/A INTRINSIC
low complexity region 184 199 N/A INTRINSIC
low complexity region 237 268 N/A INTRINSIC
low complexity region 337 349 N/A INTRINSIC
AAA 438 579 1.3e-22 SMART
low complexity region 622 633 N/A INTRINSIC
Blast:AAA 642 697 N/A BLAST
SCOP:d1e32a2 751 912 5e-4 SMART
Blast:AAA 764 918 N/A BLAST
low complexity region 924 947 N/A INTRINSIC
BROMO 955 1067 6.2e-21 SMART
low complexity region 1213 1235 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930402H24Rik T C 2: 130,784,457 D356G probably benign Het
Abca12 T C 1: 71,353,757 I108V probably benign Het
Cct4 T A 11: 22,997,656 V233E possibly damaging Het
Ces1a A G 8: 93,045,059 Y37H probably benign Het
Cgnl1 C T 9: 71,656,056 R863Q probably benign Het
Fam13b T C 18: 34,497,435 D90G probably damaging Het
Fhdc1 A T 3: 84,457,242 D232E possibly damaging Het
Gm6370 A G 5: 146,493,913 T303A probably benign Het
Gsdmc2 A G 15: 63,828,271 probably benign Het
Kif13b T A 14: 64,744,888 N516K probably damaging Het
Med1 A G 11: 98,155,684 S1429P unknown Het
Med4 T C 14: 73,517,267 M190T probably damaging Het
Myo15b T C 11: 115,891,916 V434A possibly damaging Het
Neb T C 2: 52,191,949 R1722G probably benign Het
Obp2b A T 2: 25,738,581 I116F probably damaging Het
Rims2 A G 15: 39,456,674 probably null Het
Siglecg A T 7: 43,411,795 I431F probably benign Het
Thap12 T A 7: 98,716,137 V504D possibly damaging Het
Tlr7 A C X: 167,308,475 M5R possibly damaging Het
Tubgcp6 A G 15: 89,100,962 V1641A probably damaging Het
Ugt2b1 T A 5: 86,926,196 L101F probably benign Het
Xdh A T 17: 73,884,435 *1336R probably null Het
Other mutations in Atad2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00498:Atad2 APN 15 58116820 missense probably damaging 1.00
IGL00674:Atad2 APN 15 58108386 missense probably benign 0.02
IGL01407:Atad2 APN 15 58104525 missense probably benign
IGL02557:Atad2 APN 15 58122597 missense probably benign 0.04
IGL03060:Atad2 APN 15 58122446 unclassified 0.00
IGL03308:Atad2 APN 15 58102523 missense probably benign
R0113:Atad2 UTSW 15 58120934 splice site probably benign
R0195:Atad2 UTSW 15 58099954 splice site probably benign
R0310:Atad2 UTSW 15 58114257 missense probably damaging 1.00
R0499:Atad2 UTSW 15 58103240 missense probably benign 0.45
R0499:Atad2 UTSW 15 58120949 missense probably benign
R0564:Atad2 UTSW 15 58125833 splice site probably benign
R0578:Atad2 UTSW 15 58105568 missense possibly damaging 0.83
R0581:Atad2 UTSW 15 58126664 missense probably benign
R0667:Atad2 UTSW 15 58098719 missense probably benign 0.01
R0697:Atad2 UTSW 15 58105543 missense possibly damaging 0.91
R1219:Atad2 UTSW 15 58134911 missense probably benign 0.00
R1271:Atad2 UTSW 15 58126589 missense probably benign 0.00
R1544:Atad2 UTSW 15 58103364 missense probably damaging 0.96
R1624:Atad2 UTSW 15 58100019 missense probably damaging 1.00
R1853:Atad2 UTSW 15 58097289 missense possibly damaging 0.50
R1854:Atad2 UTSW 15 58097289 missense possibly damaging 0.50
R1855:Atad2 UTSW 15 58097289 missense possibly damaging 0.50
R1860:Atad2 UTSW 15 58096718 splice site probably null
R1861:Atad2 UTSW 15 58096718 splice site probably null
R1876:Atad2 UTSW 15 58106868 missense probably benign 0.00
R1938:Atad2 UTSW 15 58096705 missense possibly damaging 0.76
R2158:Atad2 UTSW 15 58098566 missense probably benign 0.30
R3756:Atad2 UTSW 15 58099723 missense probably benign 0.01
R4256:Atad2 UTSW 15 58116856 missense probably damaging 1.00
R4762:Atad2 UTSW 15 58108362 missense probably benign
R4827:Atad2 UTSW 15 58108348 missense probably benign 0.07
R4838:Atad2 UTSW 15 58103283 missense probably damaging 1.00
R5238:Atad2 UTSW 15 58108337 missense possibly damaging 0.50
R5247:Atad2 UTSW 15 58104478 nonsense probably null
R5685:Atad2 UTSW 15 58116798 missense possibly damaging 0.95
R5790:Atad2 UTSW 15 58126594 missense probably damaging 1.00
R5813:Atad2 UTSW 15 58099854 missense probably benign 0.42
R5886:Atad2 UTSW 15 58098514 nonsense probably null
R5955:Atad2 UTSW 15 58105659 missense probably benign 0.04
R6034:Atad2 UTSW 15 58108563 missense probably damaging 1.00
R6034:Atad2 UTSW 15 58108563 missense probably damaging 1.00
R6111:Atad2 UTSW 15 58108091 missense probably benign 0.07
R6209:Atad2 UTSW 15 58118415 missense possibly damaging 0.94
Posted OnApr 20, 2012