Incidental Mutation 'R8081:Agtpbp1'
ID 629370
Institutional Source Beutler Lab
Gene Symbol Agtpbp1
Ensembl Gene ENSMUSG00000021557
Gene Name ATP/GTP binding protein 1
Synonyms 2310001G17Rik, Ccp1, Nna1, 4930445M19Rik, 1700020N17Rik, 2900054O13Rik, 5730402G09Rik, atms
MMRRC Submission 067514-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.815) question?
Stock # R8081 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 59597348-59705184 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 59676221 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Stop codon at position 183 (L183*)
Ref Sequence ENSEMBL: ENSMUSP00000022040 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022040] [ENSMUST00000109830] [ENSMUST00000164215] [ENSMUST00000165370] [ENSMUST00000165477] [ENSMUST00000165598] [ENSMUST00000165851] [ENSMUST00000166585] [ENSMUST00000167096] [ENSMUST00000167593] [ENSMUST00000168821] [ENSMUST00000169745] [ENSMUST00000170378] [ENSMUST00000170520] [ENSMUST00000170555] [ENSMUST00000171606]
AlphaFold Q641K1
Predicted Effect probably null
Transcript: ENSMUST00000022040
AA Change: L183*
SMART Domains Protein: ENSMUSP00000022040
Gene: ENSMUSG00000021557
AA Change: L183*

DomainStartEndE-ValueType
low complexity region 362 391 N/A INTRINSIC
low complexity region 589 603 N/A INTRINSIC
Pfam:Peptidase_M14 851 1099 1.7e-13 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000109830
AA Change: L183*
SMART Domains Protein: ENSMUSP00000105456
Gene: ENSMUSG00000021557
AA Change: L183*

DomainStartEndE-ValueType
Pfam:V-ATPase_H_N 34 309 2.3e-7 PFAM
low complexity region 362 391 N/A INTRINSIC
low complexity region 589 603 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000163149
SMART Domains Protein: ENSMUSP00000126238
Gene: ENSMUSG00000021557

DomainStartEndE-ValueType
low complexity region 250 279 N/A INTRINSIC
low complexity region 477 491 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000164215
AA Change: L183*
SMART Domains Protein: ENSMUSP00000130939
Gene: ENSMUSG00000021557
AA Change: L183*

DomainStartEndE-ValueType
low complexity region 362 391 N/A INTRINSIC
low complexity region 589 603 N/A INTRINSIC
Pfam:Peptidase_M14 847 1123 1.2e-26 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000165370
AA Change: L134*
Predicted Effect probably null
Transcript: ENSMUST00000165477
AA Change: L183*
Predicted Effect probably benign
Transcript: ENSMUST00000165598
Predicted Effect probably benign
Transcript: ENSMUST00000165851
Predicted Effect probably benign
Transcript: ENSMUST00000166585
Predicted Effect probably benign
Transcript: ENSMUST00000167096
Predicted Effect probably benign
Transcript: ENSMUST00000167593
Predicted Effect probably benign
Transcript: ENSMUST00000168821
Predicted Effect probably null
Transcript: ENSMUST00000169745
AA Change: L183*
Predicted Effect probably benign
Transcript: ENSMUST00000170378
Predicted Effect probably benign
Transcript: ENSMUST00000170520
Predicted Effect probably null
Transcript: ENSMUST00000170555
AA Change: L183*
SMART Domains Protein: ENSMUSP00000128589
Gene: ENSMUSG00000021557
AA Change: L183*

DomainStartEndE-ValueType
Pfam:V-ATPase_H_N 34 309 2.4e-7 PFAM
low complexity region 362 391 N/A INTRINSIC
low complexity region 589 603 N/A INTRINSIC
low complexity region 787 795 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000171606
AA Change: L183*
SMART Domains Protein: ENSMUSP00000132697
Gene: ENSMUSG00000021557
AA Change: L183*

DomainStartEndE-ValueType
Pfam:V-ATPase_H_N 34 309 2.3e-7 PFAM
low complexity region 362 391 N/A INTRINSIC
low complexity region 589 603 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.9%
  • 20x: 95.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] NNA1 is a zinc carboxypeptidase that contains nuclear localization signals and an ATP/GTP-binding motif that was initially cloned from regenerating spinal cord neurons of the mouse.[supplied by OMIM, Jul 2002]
PHENOTYPE: Homozygotes show moderate ataxia due to degeneration of Purkinje cells of the cerebellum. Also, there is gradual degeneration of retina photoreceptor cells, olfactory bulb mitral cells and some thalamic neurons. Males have abnormal sperm and are sterile. [provided by MGI curators]
Allele List at MGI

All alleles(17) : Gene trapped(6) Transgenic(1) Spontaneous(6) Chemically induced(4)

Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003E16Rik A T 6: 83,138,313 (GRCm39) E119V probably damaging Het
Adamts2 A T 11: 50,668,004 (GRCm39) D522V probably damaging Het
Arhgap10 T C 8: 78,109,375 (GRCm39) I403V possibly damaging Het
Arhgef11 T C 3: 87,632,949 (GRCm39) S687P probably damaging Het
Cdhr1 C T 14: 36,815,967 (GRCm39) V144I probably benign Het
Cdk20 A G 13: 64,586,766 (GRCm39) I339V probably benign Het
Ceacam13 A G 7: 17,747,113 (GRCm39) K189E probably damaging Het
Cep290 C T 10: 100,394,038 (GRCm39) Q2082* probably null Het
Cgrrf1 A G 14: 47,091,468 (GRCm39) T331A probably benign Het
Cntn4 G A 6: 106,651,568 (GRCm39) V706I possibly damaging Het
Csrnp2 T C 15: 100,387,462 (GRCm39) D2G probably damaging Het
Cux2 A G 5: 122,007,519 (GRCm39) I714T probably benign Het
Cx3cr1 C T 9: 119,880,878 (GRCm39) E175K possibly damaging Het
Dennd1c G A 17: 57,381,139 (GRCm39) P163L possibly damaging Het
Dhtkd1 C T 2: 5,928,919 (GRCm39) E251K probably damaging Het
Epas1 C T 17: 87,136,797 (GRCm39) P787S probably benign Het
Epha2 T C 4: 141,049,605 (GRCm39) V737A probably damaging Het
Fam50b G A 13: 34,931,084 (GRCm39) E187K possibly damaging Het
Fcsk T A 8: 111,615,783 (GRCm39) R515S probably benign Het
Fscb A T 12: 64,518,802 (GRCm39) M888K unknown Het
Gldc ACGACC AC 19: 30,135,987 (GRCm39) probably null Het
Gm14443 A T 2: 175,012,238 (GRCm39) C69* probably null Het
Gm19668 G A 10: 77,634,420 (GRCm39) A183V unknown Het
Gm49368 A G 7: 127,726,280 (GRCm39) R1231G unknown Het
Grin2c T C 11: 115,140,719 (GRCm39) Y1133C probably damaging Het
H3c13 C A 3: 96,176,309 (GRCm39) Y100* probably null Het
Hydin T C 8: 111,092,101 (GRCm39) S425P possibly damaging Het
Ifnl3 T C 7: 28,223,682 (GRCm39) S173P probably damaging Het
Igkv4-63 A T 6: 69,355,018 (GRCm39) S88T possibly damaging Het
Klhl5 C A 5: 65,320,268 (GRCm39) N607K possibly damaging Het
Lag3 A T 6: 124,882,410 (GRCm39) L362* probably null Het
Lats2 C A 14: 57,937,968 (GRCm39) G174C probably damaging Het
Mcm6 T C 1: 128,265,905 (GRCm39) E622G probably damaging Het
Med13l C A 5: 118,866,333 (GRCm39) H462Q probably damaging Het
Mrpl53 T A 6: 83,086,159 (GRCm39) F23I probably damaging Het
Muc5b T G 7: 141,417,743 (GRCm39) I3563S possibly damaging Het
Myo16 A C 8: 10,372,743 (GRCm39) L147F unknown Het
Npc1l1 G C 11: 6,167,768 (GRCm39) Q1008E probably benign Het
Npy4r A G 14: 33,868,524 (GRCm39) S255P probably damaging Het
Nup210 T C 6: 91,053,657 (GRCm39) N287D probably benign Het
Opn3 T A 1: 175,493,135 (GRCm39) H143L probably damaging Het
Or12e7 G T 2: 87,287,513 (GRCm39) M1I probably null Het
Or12j3 A T 7: 139,952,972 (GRCm39) L184M probably damaging Het
Or12j5 A T 7: 140,084,369 (GRCm39) M1K probably null Het
Or4k2 T A 14: 50,423,825 (GRCm39) N284I probably damaging Het
Or5ap2b-ps1 C T 2: 85,693,839 (GRCm39) P28L probably damaging Het
Pdcd7 C T 9: 65,253,967 (GRCm39) R182C probably damaging Het
Peg10 GC GCTCC 6: 4,756,452 (GRCm39) probably benign Het
Picalm T A 7: 89,840,451 (GRCm39) L540* probably null Het
Ppp1r21 T A 17: 88,866,272 (GRCm39) I356N probably damaging Het
Rgs6 C T 12: 83,094,347 (GRCm39) Q67* probably null Het
Ripor2 C A 13: 24,897,683 (GRCm39) Q794K probably benign Het
Rnf216 A T 5: 143,013,719 (GRCm39) I702N probably damaging Het
Robo4 T C 9: 37,316,936 (GRCm39) L417P probably damaging Het
Samhd1 A T 2: 156,943,358 (GRCm39) C605* probably null Het
Scaper C T 9: 55,823,330 (GRCm39) G22D unknown Het
Senp5 T C 16: 31,784,577 (GRCm39) T692A probably damaging Het
Six6 G T 12: 72,986,875 (GRCm39) G16W probably damaging Het
Slc38a8 A T 8: 120,212,269 (GRCm39) M358K possibly damaging Het
Snx2 T C 18: 53,349,459 (GRCm39) F407L probably benign Het
Srrm2 T A 17: 24,039,219 (GRCm39) N1954K probably damaging Het
Syk A T 13: 52,792,195 (GRCm39) M429L probably benign Het
Tln2 T A 9: 67,264,029 (GRCm39) N537Y probably damaging Het
Usp29 T A 7: 6,966,629 (GRCm39) M824K probably benign Het
Utrn A G 10: 12,423,803 (GRCm39) probably benign Het
Wdr37 C T 13: 8,885,406 (GRCm39) D346N probably damaging Het
Zfpm2 T A 15: 40,965,644 (GRCm39) C710S probably damaging Het
Other mutations in Agtpbp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00544:Agtpbp1 APN 13 59,597,986 (GRCm39) missense probably damaging 1.00
IGL00808:Agtpbp1 APN 13 59,609,908 (GRCm39) missense possibly damaging 0.84
IGL01298:Agtpbp1 APN 13 59,652,040 (GRCm39) missense possibly damaging 0.77
IGL01628:Agtpbp1 APN 13 59,655,877 (GRCm39) splice site probably benign
IGL01921:Agtpbp1 APN 13 59,660,297 (GRCm39) missense possibly damaging 0.71
IGL02189:Agtpbp1 APN 13 59,648,275 (GRCm39) missense probably benign 0.01
IGL02325:Agtpbp1 APN 13 59,648,303 (GRCm39) missense probably benign 0.01
IGL02700:Agtpbp1 APN 13 59,676,233 (GRCm39) missense probably damaging 1.00
IGL02821:Agtpbp1 APN 13 59,630,415 (GRCm39) missense possibly damaging 0.69
IGL03130:Agtpbp1 APN 13 59,622,403 (GRCm39) missense possibly damaging 0.73
IGL03167:Agtpbp1 APN 13 59,679,894 (GRCm39) splice site probably benign
IGL03218:Agtpbp1 APN 13 59,648,021 (GRCm39) missense possibly damaging 0.94
bobs UTSW 13 59,630,385 (GRCm39) missense possibly damaging 0.53
drunk UTSW 13 59,660,136 (GRCm39) critical splice donor site probably benign
gru UTSW 13 59,621,560 (GRCm39) missense probably damaging 1.00
rio UTSW 13 59,673,055 (GRCm39) critical splice acceptor site probably benign
shreds UTSW 13 59,609,902 (GRCm39) missense probably damaging 1.00
Unfocused UTSW 13 59,609,884 (GRCm39) nonsense probably null
wobble UTSW 13 59,622,364 (GRCm39) missense probably damaging 1.00
R0025:Agtpbp1 UTSW 13 59,648,014 (GRCm39) missense probably benign 0.00
R0025:Agtpbp1 UTSW 13 59,648,014 (GRCm39) missense probably benign 0.00
R0276:Agtpbp1 UTSW 13 59,609,845 (GRCm39) missense possibly damaging 0.93
R0413:Agtpbp1 UTSW 13 59,661,966 (GRCm39) missense probably damaging 0.99
R0559:Agtpbp1 UTSW 13 59,644,814 (GRCm39) missense probably benign 0.32
R0848:Agtpbp1 UTSW 13 59,681,753 (GRCm39) intron probably benign
R0943:Agtpbp1 UTSW 13 59,648,416 (GRCm39) missense probably benign
R1196:Agtpbp1 UTSW 13 59,598,132 (GRCm39) unclassified probably benign
R1421:Agtpbp1 UTSW 13 59,643,389 (GRCm39) missense possibly damaging 0.86
R1531:Agtpbp1 UTSW 13 59,648,448 (GRCm39) splice site probably null
R1833:Agtpbp1 UTSW 13 59,613,797 (GRCm39) critical splice donor site probably null
R1864:Agtpbp1 UTSW 13 59,598,016 (GRCm39) missense possibly damaging 0.92
R1994:Agtpbp1 UTSW 13 59,678,872 (GRCm39) missense probably damaging 1.00
R1995:Agtpbp1 UTSW 13 59,678,872 (GRCm39) missense probably damaging 1.00
R2001:Agtpbp1 UTSW 13 59,623,617 (GRCm39) frame shift probably null
R2006:Agtpbp1 UTSW 13 59,648,135 (GRCm39) missense probably benign 0.00
R2397:Agtpbp1 UTSW 13 59,622,383 (GRCm39) missense probably benign 0.10
R2918:Agtpbp1 UTSW 13 59,644,829 (GRCm39) missense possibly damaging 0.90
R3873:Agtpbp1 UTSW 13 59,608,410 (GRCm39) missense possibly damaging 0.88
R3924:Agtpbp1 UTSW 13 59,648,221 (GRCm39) missense probably benign 0.01
R4649:Agtpbp1 UTSW 13 59,676,213 (GRCm39) missense possibly damaging 0.89
R4913:Agtpbp1 UTSW 13 59,647,886 (GRCm39) missense probably damaging 1.00
R4933:Agtpbp1 UTSW 13 59,648,386 (GRCm39) missense probably benign
R4969:Agtpbp1 UTSW 13 59,648,392 (GRCm39) missense probably benign
R5066:Agtpbp1 UTSW 13 59,622,364 (GRCm39) missense probably damaging 1.00
R5139:Agtpbp1 UTSW 13 59,648,027 (GRCm39) missense probably damaging 0.99
R5194:Agtpbp1 UTSW 13 59,648,453 (GRCm39) missense probably benign 0.19
R5269:Agtpbp1 UTSW 13 59,621,557 (GRCm39) missense probably damaging 1.00
R5352:Agtpbp1 UTSW 13 59,621,560 (GRCm39) missense probably damaging 1.00
R5558:Agtpbp1 UTSW 13 59,630,394 (GRCm39) missense probably benign 0.05
R5687:Agtpbp1 UTSW 13 59,648,329 (GRCm39) missense probably benign
R5824:Agtpbp1 UTSW 13 59,613,913 (GRCm39) missense probably damaging 1.00
R5979:Agtpbp1 UTSW 13 59,681,860 (GRCm39) nonsense probably null
R6109:Agtpbp1 UTSW 13 59,621,560 (GRCm39) missense probably damaging 1.00
R6264:Agtpbp1 UTSW 13 59,598,114 (GRCm39) missense possibly damaging 0.89
R6413:Agtpbp1 UTSW 13 59,647,834 (GRCm39) missense possibly damaging 0.90
R6498:Agtpbp1 UTSW 13 59,624,854 (GRCm39) missense possibly damaging 0.71
R6747:Agtpbp1 UTSW 13 59,692,167 (GRCm39) splice site probably null
R6950:Agtpbp1 UTSW 13 59,598,080 (GRCm39) missense probably benign 0.32
R7030:Agtpbp1 UTSW 13 59,652,108 (GRCm39) missense probably damaging 1.00
R7180:Agtpbp1 UTSW 13 59,613,852 (GRCm39) missense probably benign 0.11
R7196:Agtpbp1 UTSW 13 59,680,994 (GRCm39) missense possibly damaging 0.83
R7535:Agtpbp1 UTSW 13 59,652,067 (GRCm39) missense probably benign
R7683:Agtpbp1 UTSW 13 59,660,312 (GRCm39) missense probably damaging 1.00
R7713:Agtpbp1 UTSW 13 59,661,966 (GRCm39) missense probably damaging 0.99
R8210:Agtpbp1 UTSW 13 59,630,385 (GRCm39) missense possibly damaging 0.53
R8861:Agtpbp1 UTSW 13 59,643,287 (GRCm39) missense probably damaging 1.00
R9163:Agtpbp1 UTSW 13 59,609,884 (GRCm39) nonsense probably null
R9199:Agtpbp1 UTSW 13 59,613,808 (GRCm39) missense probably benign 0.00
R9389:Agtpbp1 UTSW 13 59,613,884 (GRCm39) missense probably damaging 1.00
R9414:Agtpbp1 UTSW 13 59,609,902 (GRCm39) missense probably damaging 1.00
R9435:Agtpbp1 UTSW 13 59,622,429 (GRCm39) missense probably benign 0.35
Predicted Primers PCR Primer
(F):5'- GGGCACTGGTAACACTTCTTAG -3'
(R):5'- ACATGCTAGGCACCCTCTAC -3'

Sequencing Primer
(F):5'- GCACTGGTAACACTTCTTAGATTTAG -3'
(R):5'- AGGCACCCTCTACCGTTGAC -3'
Posted On 2020-06-30