Incidental Mutation 'R6254:Atad5'
ID 506007
Institutional Source Beutler Lab
Gene Symbol Atad5
Ensembl Gene ENSMUSG00000017550
Gene Name ATPase family, AAA domain containing 5
Synonyms LOC237877, C130052G03Rik
MMRRC Submission 044371-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6254 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 79980226-80026620 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 80018215 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 1389 (I1389F)
Ref Sequence ENSEMBL: ENSMUSP00000103874 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017694] [ENSMUST00000108239]
AlphaFold Q4QY64
Predicted Effect possibly damaging
Transcript: ENSMUST00000017694
AA Change: I1392F

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000017694
Gene: ENSMUSG00000017550
AA Change: I1392F

DomainStartEndE-ValueType
low complexity region 298 311 N/A INTRINSIC
low complexity region 327 342 N/A INTRINSIC
low complexity region 467 486 N/A INTRINSIC
coiled coil region 665 697 N/A INTRINSIC
low complexity region 798 807 N/A INTRINSIC
AAA 1111 1347 5.14e-5 SMART
Blast:AAA 1409 1526 1e-31 BLAST
low complexity region 1573 1583 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000108239
AA Change: I1389F

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000103874
Gene: ENSMUSG00000017550
AA Change: I1389F

DomainStartEndE-ValueType
low complexity region 298 311 N/A INTRINSIC
low complexity region 327 342 N/A INTRINSIC
low complexity region 467 486 N/A INTRINSIC
coiled coil region 665 697 N/A INTRINSIC
low complexity region 798 807 N/A INTRINSIC
AAA 1108 1344 5.14e-5 SMART
Blast:AAA 1406 1523 1e-31 BLAST
low complexity region 1570 1580 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151815
Meta Mutation Damage Score 0.3227 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.4%
Validation Efficiency 100% (82/82)
MGI Phenotype PHENOTYPE: Mice homozygous for a gene trap allele exhibit prenatal lethality. Mice heterozygous for a gene trap allele exhibit genomic instability, premature death, and a wide spectrum of spontaneous tumors. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam6b A T 12: 113,453,190 (GRCm39) L2F probably damaging Het
Ank2 T A 3: 126,735,453 (GRCm39) probably benign Het
Anpep T G 7: 79,488,981 (GRCm39) D369A probably damaging Het
App T C 16: 84,775,065 (GRCm39) E599G probably damaging Het
Asphd1 C T 7: 126,548,040 (GRCm39) V88I probably benign Het
Blm T C 7: 80,130,090 (GRCm39) N950S probably benign Het
Bsn A T 9: 107,989,065 (GRCm39) M2229K probably damaging Het
Cacna2d2 A G 9: 107,386,415 (GRCm39) M181V probably benign Het
Cadps2 T A 6: 23,329,162 (GRCm39) probably null Het
Cdh1 T A 8: 107,390,430 (GRCm39) V590D probably damaging Het
Cdk5rap2 G A 4: 70,282,269 (GRCm39) T160M probably damaging Het
Cfap97d2 A G 8: 13,756,043 (GRCm39) D26G possibly damaging Het
Cfhr4 A G 1: 139,682,128 (GRCm39) I156T probably damaging Het
Chrna5 A G 9: 54,913,740 (GRCm39) M325V probably benign Het
Clca3a2 A G 3: 144,507,895 (GRCm39) I116T probably benign Het
Cyp2c23 T C 19: 43,993,902 (GRCm39) K488R probably benign Het
Edil3 T A 13: 89,467,848 (GRCm39) I451N probably damaging Het
Exph5 T G 9: 53,284,010 (GRCm39) S364A possibly damaging Het
Fam98c A G 7: 28,853,942 (GRCm39) S209P probably damaging Het
Fat3 G A 9: 15,907,441 (GRCm39) L2854F probably benign Het
Fbxo38 T C 18: 62,638,571 (GRCm39) probably null Het
Fermt2 T C 14: 45,713,516 (GRCm39) D205G probably damaging Het
Fmnl1 G A 11: 103,087,141 (GRCm39) probably benign Het
Fn3k A G 11: 121,325,894 (GRCm39) E27G probably damaging Het
Foxj2 A G 6: 122,815,098 (GRCm39) H378R probably damaging Het
Fubp1 A G 3: 151,938,045 (GRCm39) K140E possibly damaging Het
Gm7694 A T 1: 170,130,103 (GRCm39) C98* probably null Het
Golgb1 T C 16: 36,734,340 (GRCm39) S1196P probably damaging Het
Gpm6a G A 8: 55,500,431 (GRCm39) probably null Het
Hltf T A 3: 20,117,993 (GRCm39) N80K possibly damaging Het
Il1rap G A 16: 26,514,020 (GRCm39) R251H probably benign Het
Ipo7 T A 7: 109,648,267 (GRCm39) D688E probably benign Het
Itgal T A 7: 126,924,375 (GRCm39) N897K probably damaging Het
Itsn2 A G 12: 4,674,982 (GRCm39) probably null Het
Kcnk13 A G 12: 99,931,631 (GRCm39) probably benign Het
Kdm7a A G 6: 39,147,203 (GRCm39) L248P probably damaging Het
Kmt2c T C 5: 25,554,872 (GRCm39) E1254G possibly damaging Het
Ldah G A 12: 8,325,912 (GRCm39) probably benign Het
Lingo1 T A 9: 56,527,371 (GRCm39) D406V possibly damaging Het
Lratd2 A G 15: 60,695,650 (GRCm39) I32T probably damaging Het
Lrriq1 A T 10: 103,051,312 (GRCm39) V480E probably benign Het
Mtcl1 C T 17: 66,665,129 (GRCm39) R1142H probably benign Het
Mtmr3 G A 11: 4,447,381 (GRCm39) Q360* probably null Het
Muc6 T C 7: 141,237,380 (GRCm39) N252S probably benign Het
Naa20 T C 2: 145,745,240 (GRCm39) L4P probably damaging Het
Neb T A 2: 52,112,973 (GRCm39) I4274L probably benign Het
Noa1 A T 5: 77,457,516 (GRCm39) F130I probably benign Het
Nrg4 G T 9: 55,143,796 (GRCm39) H87N possibly damaging Het
Or51ai2 T A 7: 103,586,741 (GRCm39) H51Q probably benign Het
Or5m12 T A 2: 85,734,849 (GRCm39) Y183F probably damaging Het
P3h3 C T 6: 124,822,564 (GRCm39) E536K probably damaging Het
Pcdhb11 T C 18: 37,554,771 (GRCm39) S34P probably damaging Het
Pik3r1 T C 13: 101,825,914 (GRCm39) T71A possibly damaging Het
Plaur T A 7: 24,166,225 (GRCm39) C99S possibly damaging Het
Plekha5 G A 6: 140,532,162 (GRCm39) G501E probably damaging Het
Plxnd1 C T 6: 115,954,921 (GRCm39) V614M probably benign Het
Ppp2r3d T C 9: 101,025,786 (GRCm39) D307G possibly damaging Het
Prl3d3 C T 13: 27,341,453 (GRCm39) S28F possibly damaging Het
Prpf40a T C 2: 53,047,927 (GRCm39) M197V probably benign Het
Ptk7 C A 17: 46,883,568 (GRCm39) Q832H probably damaging Het
Qser1 T C 2: 104,620,435 (GRCm39) S126G probably benign Het
Rab3ip A T 10: 116,751,772 (GRCm39) C332S probably damaging Het
Raly C A 2: 154,699,286 (GRCm39) T30K probably damaging Het
Rbp2 G T 9: 98,372,700 (GRCm39) S13I probably benign Het
Rps6ka1 C T 4: 133,594,535 (GRCm39) M159I possibly damaging Het
Rufy3 C T 5: 88,732,168 (GRCm39) T57I probably benign Het
Samd4 A G 14: 47,254,088 (GRCm39) D184G probably damaging Het
Slc35f3 T C 8: 127,047,833 (GRCm39) C58R possibly damaging Het
Smarca4 T C 9: 21,611,173 (GRCm39) I1467T probably damaging Het
Spag17 T G 3: 99,972,901 (GRCm39) I1371S probably benign Het
Sptan1 T C 2: 29,897,561 (GRCm39) L1228P possibly damaging Het
Stk31 C T 6: 49,398,631 (GRCm39) A344V probably benign Het
Supt16 A G 14: 52,408,291 (GRCm39) W885R probably damaging Het
Tdrd9 T A 12: 111,992,334 (GRCm39) probably null Het
Tmod1 A G 4: 46,078,469 (GRCm39) probably null Het
Tnfsf13 A C 11: 69,575,309 (GRCm39) probably null Het
Trim75 C A 8: 65,436,094 (GRCm39) E119* probably null Het
Wdr6 T C 9: 108,452,110 (GRCm39) Y591C probably damaging Het
Wdr86 C T 5: 24,923,281 (GRCm39) R137H probably benign Het
Ythdf1 T A 2: 180,552,943 (GRCm39) Y424F probably damaging Het
Zfp984 G T 4: 147,840,643 (GRCm39) S69R possibly damaging Het
Zyg11a A G 4: 108,038,991 (GRCm39) F743L probably damaging Het
Other mutations in Atad5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00753:Atad5 APN 11 80,023,684 (GRCm39) missense probably benign 0.22
IGL00916:Atad5 APN 11 80,009,826 (GRCm39) missense probably damaging 1.00
IGL01348:Atad5 APN 11 79,986,390 (GRCm39) missense probably benign 0.00
IGL01601:Atad5 APN 11 79,986,343 (GRCm39) missense probably benign 0.45
IGL01916:Atad5 APN 11 80,003,665 (GRCm39) critical splice donor site probably null
IGL02028:Atad5 APN 11 80,024,936 (GRCm39) missense probably benign 0.20
IGL02095:Atad5 APN 11 79,985,533 (GRCm39) missense probably benign 0.24
IGL02142:Atad5 APN 11 79,985,023 (GRCm39) missense probably benign 0.00
IGL02206:Atad5 APN 11 79,985,009 (GRCm39) missense probably damaging 1.00
IGL02385:Atad5 APN 11 79,985,453 (GRCm39) missense probably benign 0.04
IGL02858:Atad5 APN 11 79,980,601 (GRCm39) missense probably damaging 1.00
IGL02962:Atad5 APN 11 79,999,405 (GRCm39) missense possibly damaging 0.86
PIT4362001:Atad5 UTSW 11 80,002,393 (GRCm39) missense probably benign 0.04
R0040:Atad5 UTSW 11 79,988,840 (GRCm39) missense probably benign
R0157:Atad5 UTSW 11 79,980,643 (GRCm39) missense possibly damaging 0.74
R0211:Atad5 UTSW 11 79,986,473 (GRCm39) missense probably benign 0.00
R0211:Atad5 UTSW 11 79,986,473 (GRCm39) missense probably benign 0.00
R0319:Atad5 UTSW 11 80,011,616 (GRCm39) splice site probably benign
R0401:Atad5 UTSW 11 80,011,525 (GRCm39) missense probably benign 0.11
R0426:Atad5 UTSW 11 80,003,658 (GRCm39) missense probably benign 0.14
R0452:Atad5 UTSW 11 79,997,247 (GRCm39) missense probably damaging 0.98
R0496:Atad5 UTSW 11 79,991,182 (GRCm39) missense probably benign 0.08
R1691:Atad5 UTSW 11 79,986,358 (GRCm39) missense probably benign 0.00
R1812:Atad5 UTSW 11 80,023,873 (GRCm39) missense probably damaging 0.98
R2070:Atad5 UTSW 11 79,988,878 (GRCm39) splice site probably null
R2071:Atad5 UTSW 11 79,988,878 (GRCm39) splice site probably null
R2153:Atad5 UTSW 11 79,997,203 (GRCm39) missense probably benign 0.04
R2415:Atad5 UTSW 11 79,985,077 (GRCm39) missense probably damaging 1.00
R3917:Atad5 UTSW 11 79,994,120 (GRCm39) missense probably null 0.97
R4025:Atad5 UTSW 11 80,011,512 (GRCm39) missense probably damaging 1.00
R4464:Atad5 UTSW 11 79,991,137 (GRCm39) splice site probably null
R4561:Atad5 UTSW 11 79,986,715 (GRCm39) missense probably benign 0.01
R4579:Atad5 UTSW 11 79,986,017 (GRCm39) missense probably damaging 1.00
R4844:Atad5 UTSW 11 80,005,137 (GRCm39) splice site probably null
R4853:Atad5 UTSW 11 79,986,098 (GRCm39) missense probably damaging 1.00
R4873:Atad5 UTSW 11 80,011,515 (GRCm39) missense probably damaging 1.00
R4875:Atad5 UTSW 11 80,011,515 (GRCm39) missense probably damaging 1.00
R5054:Atad5 UTSW 11 79,985,502 (GRCm39) missense probably benign 0.10
R5226:Atad5 UTSW 11 79,985,888 (GRCm39) missense probably damaging 0.99
R5397:Atad5 UTSW 11 80,002,319 (GRCm39) missense probably damaging 1.00
R5449:Atad5 UTSW 11 80,014,934 (GRCm39) missense probably damaging 1.00
R5571:Atad5 UTSW 11 80,002,382 (GRCm39) missense probably benign 0.05
R5575:Atad5 UTSW 11 79,991,149 (GRCm39) missense probably benign 0.02
R5857:Atad5 UTSW 11 80,022,155 (GRCm39) missense probably benign 0.06
R5927:Atad5 UTSW 11 80,018,111 (GRCm39) missense probably damaging 1.00
R5928:Atad5 UTSW 11 79,985,003 (GRCm39) missense probably damaging 1.00
R5949:Atad5 UTSW 11 79,986,835 (GRCm39) nonsense probably null
R6102:Atad5 UTSW 11 80,002,398 (GRCm39) critical splice donor site probably null
R6562:Atad5 UTSW 11 80,024,032 (GRCm39) missense probably benign 0.26
R6744:Atad5 UTSW 11 80,024,858 (GRCm39) missense probably benign 0.00
R7092:Atad5 UTSW 11 80,011,546 (GRCm39) missense possibly damaging 0.68
R7202:Atad5 UTSW 11 79,980,601 (GRCm39) missense probably damaging 1.00
R7345:Atad5 UTSW 11 79,986,832 (GRCm39) missense probably damaging 1.00
R7352:Atad5 UTSW 11 79,994,169 (GRCm39) critical splice donor site probably null
R7358:Atad5 UTSW 11 80,023,862 (GRCm39) missense probably benign 0.32
R7420:Atad5 UTSW 11 79,986,688 (GRCm39) missense probably benign 0.06
R7453:Atad5 UTSW 11 80,009,969 (GRCm39) critical splice donor site probably null
R7990:Atad5 UTSW 11 80,024,079 (GRCm39) nonsense probably null
R8012:Atad5 UTSW 11 79,985,066 (GRCm39) missense probably damaging 1.00
R8152:Atad5 UTSW 11 79,985,996 (GRCm39) missense possibly damaging 0.59
R8421:Atad5 UTSW 11 79,985,384 (GRCm39) missense probably damaging 0.98
R8842:Atad5 UTSW 11 80,000,910 (GRCm39) missense possibly damaging 0.87
R8918:Atad5 UTSW 11 79,986,473 (GRCm39) missense probably benign 0.02
R8943:Atad5 UTSW 11 79,986,524 (GRCm39) missense possibly damaging 0.86
R8944:Atad5 UTSW 11 79,986,524 (GRCm39) missense possibly damaging 0.86
R9134:Atad5 UTSW 11 80,023,931 (GRCm39) missense probably benign 0.00
R9137:Atad5 UTSW 11 79,986,481 (GRCm39) missense probably damaging 1.00
R9301:Atad5 UTSW 11 79,986,845 (GRCm39) missense probably damaging 1.00
R9372:Atad5 UTSW 11 79,985,094 (GRCm39) missense possibly damaging 0.68
R9404:Atad5 UTSW 11 80,005,064 (GRCm39) missense probably damaging 1.00
R9443:Atad5 UTSW 11 80,023,388 (GRCm39) missense probably benign 0.01
R9471:Atad5 UTSW 11 80,023,524 (GRCm39) missense possibly damaging 0.65
R9577:Atad5 UTSW 11 80,004,996 (GRCm39) missense probably damaging 1.00
R9656:Atad5 UTSW 11 79,980,542 (GRCm39) start gained probably benign
R9659:Atad5 UTSW 11 79,980,542 (GRCm39) start gained probably benign
R9661:Atad5 UTSW 11 79,980,542 (GRCm39) start gained probably benign
RF003:Atad5 UTSW 11 80,002,386 (GRCm39) missense probably damaging 0.99
X0024:Atad5 UTSW 11 80,023,609 (GRCm39) missense probably benign 0.02
Z1176:Atad5 UTSW 11 79,985,722 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AACCATGTGTTTCTCTCCCCTAA -3'
(R):5'- TGCAACACCATACTGGGAAAA -3'

Sequencing Primer
(F):5'- ATGTGTTTCTCTCCCCTAAATCTTG -3'
(R):5'- GGTGGTGCAAACCTTTAATCCCAG -3'
Posted On 2018-02-28