Incidental Mutation 'IGL00834:Atad1'
ID9100
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Atad1
Ensembl Gene ENSMUSG00000013662
Gene NameATPase family, AAA domain containing 1
SynonymsThorase, 4921525H23Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.274) question?
Stock #IGL00834
Quality Score
Status
Chromosome19
Chromosomal Location32672563-32712298 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 32698568 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Phenylalanine at position 152 (C152F)
Ref Sequence ENSEMBL: ENSMUSP00000069962 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070210]
Predicted Effect probably benign
Transcript: ENSMUST00000070210
AA Change: C152F

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000069962
Gene: ENSMUSG00000013662
AA Change: C152F

DomainStartEndE-ValueType
coiled coil region 45 73 N/A INTRINSIC
AAA 125 261 3.3e-17 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased body size, seizure, absent LTD, enhanced LTP, enhanced AMPA-mediated currents, and premature death. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1c20 A G 13: 4,512,665 probably null Het
Alg5 T C 3: 54,744,719 probably benign Het
App A T 16: 84,965,711 F675I probably damaging Het
Atp2a3 A C 11: 72,982,787 I829L probably damaging Het
B3galt1 C T 2: 68,118,706 S255L probably damaging Het
Bptf A G 11: 107,073,928 V1417A possibly damaging Het
Cast T A 13: 74,736,974 T219S probably damaging Het
Cep95 A T 11: 106,818,217 I705F probably damaging Het
Cnot3 C T 7: 3,650,855 A2V probably damaging Het
Col1a1 A G 11: 94,949,378 D1084G unknown Het
Col5a3 G A 9: 20,786,389 Q873* probably null Het
Cubn C T 2: 13,381,927 G1509D probably damaging Het
Defb10 T A 8: 21,861,936 C66S possibly damaging Het
Dennd4b T C 3: 90,279,686 probably null Het
Dido1 G A 2: 180,689,526 T43M possibly damaging Het
Hmcn1 C T 1: 150,630,340 V3812I probably benign Het
Islr2 T C 9: 58,199,786 T64A probably benign Het
Kif2b A T 11: 91,576,380 I359N probably damaging Het
Kit A C 5: 75,645,959 N704T probably damaging Het
Ksr1 A G 11: 79,027,517 F604L probably damaging Het
Lrp5 A T 19: 3,649,404 F294I probably benign Het
Lrrn1 A G 6: 107,568,308 T356A probably benign Het
Mrps17 G A 5: 129,716,765 V8I probably benign Het
Nop56 T A 2: 130,275,995 H130Q possibly damaging Het
Plg T A 17: 12,411,493 L639Q probably damaging Het
Ppcdc A G 9: 57,415,140 F159L probably benign Het
Ppp1ca A G 19: 4,194,520 T193A probably benign Het
Prpf39 A G 12: 65,043,263 D117G probably damaging Het
Ranbp2 C A 10: 58,453,323 T51K possibly damaging Het
Sytl2 A G 7: 90,382,636 probably benign Het
Tenm2 T A 11: 36,024,258 I2150F probably damaging Het
Wdr11 T G 7: 129,593,093 probably null Het
Other mutations in Atad1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02128:Atad1 APN 19 32687327 splice site probably benign
IGL02441:Atad1 APN 19 32706948 missense probably benign
R0332:Atad1 UTSW 19 32702534 splice site probably benign
R0433:Atad1 UTSW 19 32698477 missense probably benign 0.00
R1529:Atad1 UTSW 19 32706921 missense probably benign 0.01
R1981:Atad1 UTSW 19 32695810 missense probably benign 0.00
R3156:Atad1 UTSW 19 32706955 missense probably benign 0.11
R4490:Atad1 UTSW 19 32695797 missense probably benign 0.17
R4866:Atad1 UTSW 19 32702564 missense probably benign 0.00
R5253:Atad1 UTSW 19 32674302 missense probably benign 0.16
R5284:Atad1 UTSW 19 32687271 missense probably benign 0.00
R6118:Atad1 UTSW 19 32687297 missense possibly damaging 0.94
R6224:Atad1 UTSW 19 32698628 missense probably damaging 1.00
R6226:Atad1 UTSW 19 32701587 missense probably benign 0.00
Posted On2012-12-06