Incidental Mutation 'R0413:Agtpbp1'
ID 36826
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 038615-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.815) question?
Stock # R0413 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 59597348-59705184 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 59661966 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 282 (I282F)
Ref Sequence ENSEMBL: ENSMUSP00000132697 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022040] [ENSMUST00000109830] [ENSMUST00000164215] [ENSMUST00000165370] [ENSMUST00000170555] [ENSMUST00000171606] [ENSMUST00000165851] [ENSMUST00000165598] [ENSMUST00000165477] [ENSMUST00000167593] [ENSMUST00000169745]
AlphaFold Q641K1
Predicted Effect probably benign
Transcript: ENSMUST00000022040
AA Change: I282F

PolyPhen 2 Score 0.244 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000022040
Gene: ENSMUSG00000021557
AA Change: I282F

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 damaging
Transcript: ENSMUST00000109830
AA Change: I282F

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000105456
Gene: ENSMUSG00000021557
AA Change: I282F

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 noncoding transcript
Transcript: ENSMUST00000151827
Predicted Effect
SMART Domains Protein: ENSMUSP00000126238
Gene: ENSMUSG00000021557
AA Change: I169F

DomainStartEndE-ValueType
low complexity region 250 279 N/A INTRINSIC
low complexity region 477 491 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000164215
AA Change: I282F

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000130939
Gene: ENSMUSG00000021557
AA Change: I282F

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 unknown
Transcript: ENSMUST00000165370
AA Change: I233F
Predicted Effect probably damaging
Transcript: ENSMUST00000170555
AA Change: I282F

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000128589
Gene: ENSMUSG00000021557
AA Change: I282F

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 damaging
Transcript: ENSMUST00000171606
AA Change: I282F

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000132697
Gene: ENSMUSG00000021557
AA Change: I282F

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: ENSMUST00000165851
Predicted Effect probably benign
Transcript: ENSMUST00000165598
Predicted Effect probably benign
Transcript: ENSMUST00000165477
Predicted Effect probably benign
Transcript: ENSMUST00000167593
Predicted Effect probably benign
Transcript: ENSMUST00000169745
Meta Mutation Damage Score 0.1172 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.9%
Validation Efficiency 99% (99/100)
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: 97 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 A G 2: 69,158,355 (GRCm39) probably benign Het
Adh1 C T 3: 137,986,193 (GRCm39) T60I probably benign Het
Arih2 G T 9: 108,493,916 (GRCm39) Q166K probably damaging Het
Cacna1s A G 1: 136,025,947 (GRCm39) T1031A probably benign Het
Ccdc102a C A 8: 95,629,914 (GRCm39) E542D probably benign Het
Cdk1 T C 10: 69,180,929 (GRCm39) I94V probably benign Het
Cep290 C T 10: 100,359,176 (GRCm39) Q969* probably null Het
Cilp2 A G 8: 70,335,643 (GRCm39) S452P probably benign Het
Col12a1 T C 9: 79,606,642 (GRCm39) T594A probably damaging Het
Cpox A G 16: 58,491,232 (GRCm39) T148A possibly damaging Het
Csf3r A G 4: 125,933,460 (GRCm39) probably benign Het
Csmd1 A T 8: 16,760,530 (GRCm39) C202S probably damaging Het
Dlgap4 T C 2: 156,604,746 (GRCm39) S261P probably damaging Het
Dnah9 T A 11: 65,998,961 (GRCm39) Y1029F probably damaging Het
Dok5 T C 2: 170,671,880 (GRCm39) probably benign Het
Dusp11 A T 6: 85,929,352 (GRCm39) probably benign Het
Edar T C 10: 58,465,262 (GRCm39) N34D probably benign Het
Efcab7 C T 4: 99,766,943 (GRCm39) T56I probably damaging Het
Entpd1 G A 19: 40,699,729 (GRCm39) V47I probably benign Het
Ephx4 A G 5: 107,551,601 (GRCm39) N62S probably benign Het
Etaa1 A T 11: 17,896,350 (GRCm39) L589* probably null Het
Fam135b T A 15: 71,335,670 (GRCm39) N508I probably benign Het
Fam193a T C 5: 34,623,552 (GRCm39) V27A possibly damaging Het
Fmnl1 A G 11: 103,084,889 (GRCm39) probably benign Het
Fstl1 A C 16: 37,641,516 (GRCm39) probably null Het
Gbp4 G A 5: 105,268,972 (GRCm39) R394C possibly damaging Het
Gemin4 T C 11: 76,102,148 (GRCm39) Y871C probably benign Het
Get1 T G 16: 95,954,217 (GRCm39) S105R probably benign Het
Gm7247 T C 14: 51,760,929 (GRCm39) V166A probably benign Het
Gpcpd1 A T 2: 132,406,543 (GRCm39) probably benign Het
Gpnmb A G 6: 49,019,737 (GRCm39) D36G probably benign Het
Ido2 C T 8: 25,048,159 (GRCm39) probably null Het
Igfn1 G A 1: 135,895,334 (GRCm39) T1744I probably benign Het
Inf2 T G 12: 112,568,110 (GRCm39) F221V probably damaging Het
Itga10 T A 3: 96,556,375 (GRCm39) I170N probably damaging Het
Lrp6 A T 6: 134,484,587 (GRCm39) D345E probably damaging Het
Macf1 A T 4: 123,366,062 (GRCm39) S2900T probably benign Het
Med13 C A 11: 86,190,033 (GRCm39) probably benign Het
Morc3 T C 16: 93,667,362 (GRCm39) V507A probably damaging Het
Myadm AC ACC 7: 3,345,276 (GRCm39) probably null Het
Myl6 C T 10: 128,328,091 (GRCm39) probably benign Het
Mylk T C 16: 34,742,314 (GRCm39) V942A probably benign Het
Myorg G T 4: 41,498,585 (GRCm39) H348Q probably benign Het
Ncdn G T 4: 126,644,327 (GRCm39) T165K possibly damaging Het
Ncf1 T C 5: 134,251,656 (GRCm39) probably benign Het
Neb T C 2: 52,180,751 (GRCm39) probably benign Het
Nid1 T A 13: 13,656,681 (GRCm39) I604N probably benign Het
Nsrp1 T C 11: 76,936,997 (GRCm39) R400G probably benign Het
Nup43 T G 10: 7,546,791 (GRCm39) I137S probably benign Het
Nynrin A G 14: 56,109,648 (GRCm39) N1585S possibly damaging Het
Obscn T A 11: 58,893,823 (GRCm39) Y6748F probably benign Het
Omg A G 11: 79,393,661 (GRCm39) S66P possibly damaging Het
Or13a27 A T 7: 139,925,108 (GRCm39) S265T possibly damaging Het
Or2y1d T C 11: 49,322,212 (GRCm39) V303A possibly damaging Het
Or4c15 A G 2: 88,759,906 (GRCm39) V251A probably benign Het
Or51b6b A T 7: 103,309,957 (GRCm39) F167I possibly damaging Het
Or52z1 A G 7: 103,437,362 (GRCm39) Y41H probably damaging Het
Or5ak22 T C 2: 85,230,019 (GRCm39) N286S probably damaging Het
Or8g27 A G 9: 39,129,566 (GRCm39) I304M probably benign Het
Or8k24 G A 2: 86,216,058 (GRCm39) R235C probably benign Het
Ormdl1 C T 1: 53,347,978 (GRCm39) probably benign Het
Ovch2 T A 7: 107,381,243 (GRCm39) I552L probably benign Het
Pcare T G 17: 72,059,212 (GRCm39) D155A probably benign Het
Pcsk9 G T 4: 106,311,538 (GRCm39) T231N probably damaging Het
Pgpep1 T C 8: 71,110,100 (GRCm39) N22S probably damaging Het
Plb1 T C 5: 32,512,706 (GRCm39) F1355L probably damaging Het
Plcg1 G T 2: 160,603,349 (GRCm39) L1173F probably damaging Het
Plch2 A T 4: 155,091,373 (GRCm39) probably null Het
Ppp1r3g T A 13: 36,153,331 (GRCm39) F250L probably damaging Het
Prkcg A G 7: 3,368,095 (GRCm39) I381V probably benign Het
Pum2 C T 12: 8,763,464 (GRCm39) A207V probably benign Het
Rabac1 T C 7: 24,669,607 (GRCm39) E166G probably damaging Het
Rad21l G A 2: 151,493,851 (GRCm39) S450L probably benign Het
Rangap1 ACACTCA ACA 15: 81,600,876 (GRCm39) probably null Het
Reg3b G T 6: 78,348,824 (GRCm39) C40F probably damaging Het
Rfx2 A G 17: 57,091,418 (GRCm39) probably benign Het
Rrp15 G A 1: 186,481,346 (GRCm39) probably benign Het
Schip1 G T 3: 68,401,946 (GRCm39) G36C probably damaging Het
Sec61a2 A T 2: 5,881,165 (GRCm39) probably benign Het
Sema5a A G 15: 32,669,590 (GRCm39) K705E probably damaging Het
Setx A G 2: 29,029,290 (GRCm39) Y186C probably damaging Het
Slc22a23 T C 13: 34,367,115 (GRCm39) E631G probably damaging Het
Slc5a5 T C 8: 71,344,319 (GRCm39) T134A possibly damaging Het
Stx7 T C 10: 24,057,492 (GRCm39) S173P probably damaging Het
Sybu T C 15: 44,536,668 (GRCm39) T353A probably damaging Het
Syde2 T A 3: 145,712,887 (GRCm39) N1008K probably damaging Het
Tiam1 T C 16: 89,606,253 (GRCm39) probably benign Het
Timm10b G A 7: 105,327,537 (GRCm39) E61K probably benign Het
Tm2d1 A G 4: 98,253,810 (GRCm39) I121T probably damaging Het
Trim75 T C 8: 65,435,892 (GRCm39) E186G probably benign Het
Tti1 T C 2: 157,837,396 (GRCm39) K895E probably benign Het
Vmn1r43 A G 6: 89,846,830 (GRCm39) S219P probably damaging Het
Vmn2r73 A T 7: 85,521,087 (GRCm39) S294T possibly damaging Het
Vmn2r94 A T 17: 18,464,080 (GRCm39) F737I probably damaging Het
Vsx2 A T 12: 84,616,777 (GRCm39) T21S probably benign Het
Zfp462 G T 4: 55,010,534 (GRCm39) R833S probably damaging Het
Zfpl1 G A 19: 6,132,482 (GRCm39) P143L 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
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
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'- TTGTAAGGGCACACAGATACCCGC -3'
(R):5'- TGAAGACCCGTTGGTCTCACACTG -3'

Sequencing Primer
(F):5'- GCAGTACAAGGTTCATTCTCTAGAC -3'
(R):5'- aattattaaCTAAAGGCTGGGAACTG -3'
Posted On 2013-05-09