Incidental Mutation 'IGL00834:Atad1'
ID 9100
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Atad1
Ensembl Gene ENSMUSG00000013662
Gene Name ATPase family, AAA domain containing 1
Synonyms Thorase, 4921525H23Rik
Accession Numbers
Essential gene? Possibly essential (E-score: 0.509) question?
Stock # IGL00834
Quality Score
Status
Chromosome 19
Chromosomal Location 32649958-32717187 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 32675968 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Phenylalanine at position 152 (C152F)
Ref Sequence ENSEMBL: ENSMUSP00000069962 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070210]
AlphaFold Q9D5T0
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: 4,562,664 (GRCm39) probably null Het
Alg5 T C 3: 54,652,140 (GRCm39) probably benign Het
App A T 16: 84,762,599 (GRCm39) F675I probably damaging Het
Atp2a3 A C 11: 72,873,613 (GRCm39) I829L probably damaging Het
B3galt1 C T 2: 67,949,050 (GRCm39) S255L probably damaging Het
Bptf A G 11: 106,964,754 (GRCm39) V1417A possibly damaging Het
Cast T A 13: 74,885,093 (GRCm39) T219S probably damaging Het
Cep95 A T 11: 106,709,043 (GRCm39) I705F probably damaging Het
Cnot3 C T 7: 3,653,854 (GRCm39) A2V probably damaging Het
Col1a1 A G 11: 94,840,204 (GRCm39) D1084G unknown Het
Col5a3 G A 9: 20,697,685 (GRCm39) Q873* probably null Het
Cubn C T 2: 13,386,738 (GRCm39) G1509D probably damaging Het
Defb10 T A 8: 22,351,952 (GRCm39) C66S possibly damaging Het
Dennd4b T C 3: 90,186,993 (GRCm39) probably null Het
Dido1 G A 2: 180,331,319 (GRCm39) T43M possibly damaging Het
Hmcn1 C T 1: 150,506,091 (GRCm39) V3812I probably benign Het
Islr2 T C 9: 58,107,069 (GRCm39) T64A probably benign Het
Kif2b A T 11: 91,467,206 (GRCm39) I359N probably damaging Het
Kit A C 5: 75,806,619 (GRCm39) N704T probably damaging Het
Ksr1 A G 11: 78,918,343 (GRCm39) F604L probably damaging Het
Lrp5 A T 19: 3,699,404 (GRCm39) F294I probably benign Het
Lrrn1 A G 6: 107,545,269 (GRCm39) T356A probably benign Het
Mrps17 G A 5: 129,793,829 (GRCm39) V8I probably benign Het
Nop56 T A 2: 130,117,915 (GRCm39) H130Q possibly damaging Het
Plg T A 17: 12,630,380 (GRCm39) L639Q probably damaging Het
Ppcdc A G 9: 57,322,423 (GRCm39) F159L probably benign Het
Ppp1ca A G 19: 4,244,519 (GRCm39) T193A probably benign Het
Prpf39 A G 12: 65,090,037 (GRCm39) D117G probably damaging Het
Ranbp2 C A 10: 58,289,145 (GRCm39) T51K possibly damaging Het
Sytl2 A G 7: 90,031,844 (GRCm39) probably benign Het
Tenm2 T A 11: 35,915,085 (GRCm39) I2150F probably damaging Het
Wdr11 T G 7: 129,194,817 (GRCm39) probably null Het
Other mutations in Atad1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02128:Atad1 APN 19 32,664,727 (GRCm39) splice site probably benign
IGL02441:Atad1 APN 19 32,684,348 (GRCm39) missense probably benign
R0332:Atad1 UTSW 19 32,679,934 (GRCm39) splice site probably benign
R0433:Atad1 UTSW 19 32,675,877 (GRCm39) missense probably benign 0.00
R1529:Atad1 UTSW 19 32,684,321 (GRCm39) missense probably benign 0.01
R1981:Atad1 UTSW 19 32,673,210 (GRCm39) missense probably benign 0.00
R3156:Atad1 UTSW 19 32,684,355 (GRCm39) missense probably benign 0.11
R4490:Atad1 UTSW 19 32,673,197 (GRCm39) missense probably benign 0.17
R4866:Atad1 UTSW 19 32,679,964 (GRCm39) missense probably benign 0.00
R5253:Atad1 UTSW 19 32,651,702 (GRCm39) missense probably benign 0.16
R5284:Atad1 UTSW 19 32,664,671 (GRCm39) missense probably benign 0.00
R6118:Atad1 UTSW 19 32,664,697 (GRCm39) missense possibly damaging 0.94
R6224:Atad1 UTSW 19 32,676,028 (GRCm39) missense probably damaging 1.00
R6226:Atad1 UTSW 19 32,678,987 (GRCm39) missense probably benign 0.00
R9523:Atad1 UTSW 19 32,684,323 (GRCm39) missense possibly damaging 0.55
Posted On 2012-12-06