Incidental Mutation 'R9163:Agtpbp1'
ID 695869
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 068975-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.815) question?
Stock # R9163 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 59597348-59705184 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 59609884 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Stop codon at position 1082 (W1082*)
Ref Sequence ENSEMBL: ENSMUSP00000022040 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022040] [ENSMUST00000164215] [ENSMUST00000169745] [ENSMUST00000170555] [ENSMUST00000224397]
AlphaFold Q641K1
Predicted Effect probably null
Transcript: ENSMUST00000022040
AA Change: W1082*
SMART Domains Protein: ENSMUSP00000022040
Gene: ENSMUSG00000021557
AA Change: W1082*

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 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: W1082*
SMART Domains Protein: ENSMUSP00000130939
Gene: ENSMUSG00000021557
AA Change: W1082*

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 benign
Transcript: ENSMUST00000169745
Predicted Effect probably benign
Transcript: ENSMUST00000170555
SMART Domains Protein: ENSMUSP00000128589
Gene: ENSMUSG00000021557

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: ENSMUST00000224397
AA Change: W139*
Meta Mutation Damage Score 0.9756 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 99% (69/70)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik T C 13: 77,393,400 (GRCm39) S351P possibly damaging Het
4930558K02Rik A G 1: 161,777,174 (GRCm39) S128P probably benign Het
Adam17 C T 12: 21,401,588 (GRCm39) V136I probably benign Het
Adam19 A G 11: 46,018,176 (GRCm39) T413A probably benign Het
Adam28 T C 14: 68,866,531 (GRCm39) K443E probably damaging Het
Adgrv1 T A 13: 81,567,541 (GRCm39) T5211S probably benign Het
Adnp2 A T 18: 80,172,200 (GRCm39) N736K possibly damaging Het
Ap3b2 T G 7: 81,113,546 (GRCm39) M888L unknown Het
Arhgap35 C A 7: 16,295,549 (GRCm39) R1172L possibly damaging Het
Arrdc3 T A 13: 81,041,506 (GRCm39) D402E probably benign Het
Ccdc14 T C 16: 34,511,118 (GRCm39) F31L possibly damaging Het
Cd5l T G 3: 87,274,932 (GRCm39) L157R probably benign Het
Cdc14a G T 3: 116,122,213 (GRCm39) D251E possibly damaging Het
Cfap210 A T 2: 69,606,510 (GRCm39) I302K probably benign Het
Chmp2a T A 7: 12,766,645 (GRCm39) Q91L possibly damaging Het
Col12a1 A G 9: 79,548,729 (GRCm39) probably null Het
Ctdsp1 G T 1: 74,434,126 (GRCm39) R201L possibly damaging Het
Dhx15 C T 5: 52,342,198 (GRCm39) R40H probably damaging Het
Dnph1 A G 17: 46,809,860 (GRCm39) Y134C probably damaging Het
Foxo1 T A 3: 52,253,301 (GRCm39) V488D probably benign Het
Gcn1 C A 5: 115,742,944 (GRCm39) N1538K probably benign Het
Gldc T A 19: 30,111,686 (GRCm39) E500V probably benign Het
Hhip G A 8: 80,701,743 (GRCm39) T597I probably benign Het
Hmgn1 A G 16: 95,928,509 (GRCm39) probably null Het
Ifi205 A T 1: 173,844,988 (GRCm39) S265T possibly damaging Het
Igkv1-131 T C 6: 67,743,753 (GRCm39) M2V probably benign Het
Irgm2 T G 11: 58,111,280 (GRCm39) S324A probably damaging Het
Jarid2 C G 13: 45,064,727 (GRCm39) D937E possibly damaging Het
Jrkl A T 9: 13,245,404 (GRCm39) W86R probably damaging Het
Kbtbd3 A G 9: 4,330,584 (GRCm39) I319M probably benign Het
Klhl7 T C 5: 24,364,465 (GRCm39) Y500H probably damaging Het
Lats1 C T 10: 7,578,052 (GRCm39) A392V probably benign Het
Llgl1 G T 11: 60,600,402 (GRCm39) A584S probably benign Het
Macf1 G T 4: 123,403,686 (GRCm39) S560Y probably damaging Het
Or4c11 C T 2: 88,695,795 (GRCm39) P282L possibly damaging Het
Or8c10 T A 9: 38,279,378 (GRCm39) C169S probably damaging Het
Pde10a G A 17: 9,181,791 (GRCm39) C498Y possibly damaging Het
Pde4dip A G 3: 97,659,123 (GRCm39) probably null Het
Pdhx G A 2: 102,852,561 (GRCm39) P434L probably damaging Het
Pdlim3 T C 8: 46,338,711 (GRCm39) probably null Het
Pik3c3 T C 18: 30,427,483 (GRCm39) probably null Het
Prkag1 T C 15: 98,711,900 (GRCm39) K242R possibly damaging Het
Rap1b A G 10: 117,654,391 (GRCm39) S150P possibly damaging Het
Scn4a A G 11: 106,217,076 (GRCm39) S1102P probably damaging Het
Scrib A G 15: 75,921,108 (GRCm39) Y1332H probably damaging Het
Sim1 A G 10: 50,772,165 (GRCm39) E58G probably benign Het
Slc13a1 C T 6: 24,097,578 (GRCm39) probably null Het
Slc17a8 A G 10: 89,425,444 (GRCm39) V380A probably damaging Het
Slc5a4b G T 10: 75,917,165 (GRCm39) Y290* probably null Het
Slco4c1 A G 1: 96,764,633 (GRCm39) F480L probably damaging Het
Srcap T C 7: 127,121,162 (GRCm39) V146A unknown Het
Ssc5d T A 7: 4,936,432 (GRCm39) D559E probably damaging Het
Sstr5 A C 17: 25,710,584 (GRCm39) I215S probably damaging Het
Stambpl1 G A 19: 34,212,634 (GRCm39) C268Y probably benign Het
Stard3nl C A 13: 19,560,809 (GRCm39) probably benign Het
Sycp3 T C 10: 88,299,734 (GRCm39) probably null Het
Syne2 A T 12: 76,009,349 (GRCm39) M2417L possibly damaging Het
Tenm4 T G 7: 96,473,080 (GRCm39) Y959D probably damaging Het
Tmem132d T A 5: 127,869,570 (GRCm39) D588V possibly damaging Het
Tnfrsf26 T C 7: 143,172,130 (GRCm39) E60G possibly damaging Het
Topbp1 A G 9: 103,205,767 (GRCm39) R802G probably benign Het
Trmu T C 15: 85,781,096 (GRCm39) V360A probably benign Het
Tshz2 G A 2: 169,726,562 (GRCm39) C386Y probably damaging Het
Ttn A T 2: 76,700,771 (GRCm39) D61E Het
Upf1 T C 8: 70,792,674 (GRCm39) T345A probably benign Het
Vmn2r23 T A 6: 123,718,782 (GRCm39) C712S probably damaging Het
Vmn2r44 C T 7: 8,371,091 (GRCm39) V652I probably benign Het
Wfdc1 T C 8: 120,393,302 (GRCm39) V8A probably benign Het
Xrn1 A G 9: 95,880,274 (GRCm39) Y738C probably benign Het
Zfp618 T G 4: 63,051,511 (GRCm39) V764G probably damaging Het
Znfx1 A T 2: 166,898,261 (GRCm39) M221K 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
R8081:Agtpbp1 UTSW 13 59,676,221 (GRCm39) nonsense probably null
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
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'- CAGTGCATCTCTAGAGCCTG -3'
(R):5'- CATTGCATGCTACTCTCTGGAATAGC -3'

Sequencing Primer
(F):5'- GCTTGGCATTGCACTCAG -3'
(R):5'- TGCTACTCTCTGGAATAGCAGAAAAG -3'
Posted On 2022-02-07