Incidental Mutation 'R9389:Agtpbp1'
ID 710501
Institutional Source Beutler Lab
Gene Symbol Agtpbp1
Ensembl Gene ENSMUSG00000021557
Gene Name ATP/GTP binding protein 1
Synonyms 2310001G17Rik, Nna1, 1700020N17Rik, 4930445M19Rik, 2900054O13Rik, 5730402G09Rik
MMRRC Submission
Accession Numbers

Genbank: NM_023328; MGI: 2159437

Essential gene? Possibly essential (E-score: 0.727) question?
Stock # R9389 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 59445742-59585227 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 59466070 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 1019 (M1019K)
Ref Sequence ENSEMBL: ENSMUSP00000022040 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022040] [ENSMUST00000164215] [ENSMUST00000169745] [ENSMUST00000170555] [ENSMUST00000224397]
AlphaFold Q641K1
Predicted Effect probably damaging
Transcript: ENSMUST00000022040
AA Change: M1019K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000022040
Gene: ENSMUSG00000021557
AA Change: M1019K

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 damaging
Transcript: ENSMUST00000164215
AA Change: M1019K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000130939
Gene: ENSMUSG00000021557
AA Change: M1019K

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 possibly damaging
Transcript: ENSMUST00000224397
AA Change: M76K

PolyPhen 2 Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (55/55)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210010C04Rik C T 6: 41,033,145 (GRCm38) G85D probably benign Het
4931440F15Rik A G 11: 29,825,107 (GRCm38) S117P probably damaging Het
Abcb1b G A 5: 8,825,614 (GRCm38) V596I probably benign Het
Arfgef3 A G 10: 18,603,523 (GRCm38) V1448A probably damaging Het
Baz1a T A 12: 54,916,823 (GRCm38) E828D probably damaging Het
Ces1f A T 8: 93,269,972 (GRCm38) probably null Het
Cfap53 T A 18: 74,299,343 (GRCm38) probably null Het
Col6a4 T C 9: 106,000,784 (GRCm38) Y1998C probably damaging Het
Col9a2 A G 4: 121,054,751 (GRCm38) T675A probably benign Het
Dusp6 G A 10: 99,263,977 (GRCm38) V96M possibly damaging Het
Elmo1 T G 13: 20,185,491 (GRCm38) M22R probably benign Het
Gm19965 A G 1: 116,821,836 (GRCm38) N416D Het
Gpr162 A G 6: 124,861,394 (GRCm38) Y98H probably damaging Het
Igfals G A 17: 24,881,626 (GRCm38) V564I probably benign Het
Il4 C T 11: 53,614,010 (GRCm38) R76H probably damaging Het
Itgb1 T A 8: 128,707,156 (GRCm38) N50K probably benign Het
Itpr3 A T 17: 27,095,925 (GRCm38) Y682F possibly damaging Het
Jak3 C T 8: 71,684,052 (GRCm38) P668S probably damaging Het
Malrd1 A T 2: 15,703,156 (GRCm38) N932I unknown Het
Mast4 C A 13: 103,333,930 (GRCm38) R88L probably benign Het
Mfsd11 T G 11: 116,873,335 (GRCm38) S381A probably benign Het
Mrm3 A G 11: 76,250,030 (GRCm38) D288G probably damaging Het
Myg1 G T 15: 102,336,937 (GRCm38) V198F probably damaging Het
Naip5 T A 13: 100,219,830 (GRCm38) E1092D probably benign Het
Npy6r T C 18: 44,275,692 (GRCm38) I60T probably damaging Het
Olfr1109 A T 2: 87,093,046 (GRCm38) M117K possibly damaging Het
Olfr1308 G T 2: 111,960,527 (GRCm38) P182H probably damaging Het
Olfr1341 A T 4: 118,710,156 (GRCm38) M250L probably benign Het
Olfr177 C T 16: 58,872,613 (GRCm38) C179Y probably damaging Het
Olfr530 T C 7: 140,373,017 (GRCm38) T198A probably benign Het
Olfr811 G A 10: 129,801,671 (GRCm38) P285S probably damaging Het
Ovgp1 CCACTGGTGTTTCTAAGACCACCACTGGCATTTCTAAGACCATCACTGGTGTTTCTAAGACCACCACTGGCATTTCTAAGACCACCACTGGCATTTCTAAGACCACCACTGGGGTTTCTAAGATCACCACTGGTGTTTCTAAGACCACCACTGGCATTTCTAAGACCA CCACTGGTGTTTCTAAGACCACCACTGGCATTTCTAAGACCACCACTGGCATTTCTAAGACCACCACTGGGGTTTCTAAGATCACCACTGGTGTTTCTAAGACCACCACTGGCATTTCTAAGACCA 3: 105,986,525 (GRCm38) probably benign Het
Oxtr C A 6: 112,489,349 (GRCm38) R150L probably damaging Het
Pappa A T 4: 65,180,888 (GRCm38) Y548F probably damaging Het
Pip4k2a T C 2: 18,908,079 (GRCm38) K73R probably damaging Het
Pla2g4f T A 2: 120,302,300 (GRCm38) D685V probably damaging Het
Ppp1r35 T A 5: 137,779,315 (GRCm38) L81Q probably damaging Het
Ptprf C A 4: 118,236,039 (GRCm38) A469S probably benign Het
Ranbp3l T A 15: 9,057,223 (GRCm38) N322K probably damaging Het
Rev3l T A 10: 39,822,971 (GRCm38) Y1155N possibly damaging Het
Rfesd T C 13: 76,003,012 (GRCm38) Y96C probably damaging Het
Runx1 C T 16: 92,613,680 (GRCm38) V283I possibly damaging Het
Sema5b A C 16: 35,645,722 (GRCm38) Q125P probably damaging Het
Spef2 A T 15: 9,725,221 (GRCm38) M150K probably damaging Het
Srcap T G 7: 127,542,283 (GRCm38) L1745W probably damaging Het
Srgap2 A G 1: 131,355,627 (GRCm38) Y239H probably damaging Het
Svil T A 18: 5,090,811 (GRCm38) H1304Q possibly damaging Het
Syne1 T C 10: 5,229,193 (GRCm38) D4427G possibly damaging Het
Tg T A 15: 66,689,324 (GRCm38) M1065K probably benign Het
Tgm2 T C 2: 158,117,896 (GRCm38) T656A probably benign Het
Ttc37 A G 13: 76,127,039 (GRCm38) D403G probably benign Het
Ubr4 A G 4: 139,425,924 (GRCm38) K809E Het
Vmn1r88 T C 7: 13,178,619 (GRCm38) S301P probably damaging Het
Wdr27 A G 17: 14,891,718 (GRCm38) V671A possibly damaging Het
Zbtb17 G A 4: 141,465,820 (GRCm38) V550I possibly damaging Het
Zeb2 A T 2: 44,997,908 (GRCm38) I379N probably damaging Het
Other mutations in Agtpbp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00544:Agtpbp1 APN 13 59,450,172 (GRCm38) missense probably damaging 1.00
IGL00808:Agtpbp1 APN 13 59,462,094 (GRCm38) missense possibly damaging 0.84
IGL01298:Agtpbp1 APN 13 59,504,226 (GRCm38) missense possibly damaging 0.77
IGL01628:Agtpbp1 APN 13 59,508,063 (GRCm38) splice site probably benign
IGL01921:Agtpbp1 APN 13 59,512,483 (GRCm38) missense possibly damaging 0.71
IGL02189:Agtpbp1 APN 13 59,500,461 (GRCm38) missense probably benign 0.01
IGL02325:Agtpbp1 APN 13 59,500,489 (GRCm38) missense probably benign 0.01
IGL02700:Agtpbp1 APN 13 59,528,419 (GRCm38) missense probably damaging 1.00
IGL02821:Agtpbp1 APN 13 59,482,601 (GRCm38) missense possibly damaging 0.69
IGL03130:Agtpbp1 APN 13 59,474,589 (GRCm38) missense possibly damaging 0.73
IGL03167:Agtpbp1 APN 13 59,532,080 (GRCm38) splice site probably benign
IGL03218:Agtpbp1 APN 13 59,500,207 (GRCm38) missense possibly damaging 0.94
bobs UTSW 13 59,482,571 (GRCm38) missense possibly damaging 0.53
drunk UTSW 13 59,512,322 (GRCm38) critical splice donor site probably benign
gru UTSW 13 59,473,746 (GRCm38) missense probably damaging 1.00
rio UTSW 13 59,525,241 (GRCm38) critical splice acceptor site probably benign
shreds UTSW 13 59,462,088 (GRCm38) missense probably damaging 1.00
Unfocused UTSW 13 59,462,070 (GRCm38) nonsense probably null
wobble UTSW 13 59,474,550 (GRCm38) missense probably damaging 1.00
R0025:Agtpbp1 UTSW 13 59,500,200 (GRCm38) missense probably benign 0.00
R0025:Agtpbp1 UTSW 13 59,500,200 (GRCm38) missense probably benign 0.00
R0276:Agtpbp1 UTSW 13 59,462,031 (GRCm38) missense possibly damaging 0.93
R0413:Agtpbp1 UTSW 13 59,514,152 (GRCm38) missense probably damaging 0.99
R0559:Agtpbp1 UTSW 13 59,497,000 (GRCm38) missense probably benign 0.32
R0848:Agtpbp1 UTSW 13 59,533,939 (GRCm38) intron probably benign
R0943:Agtpbp1 UTSW 13 59,500,602 (GRCm38) missense probably benign
R1196:Agtpbp1 UTSW 13 59,450,318 (GRCm38) unclassified probably benign
R1421:Agtpbp1 UTSW 13 59,495,575 (GRCm38) missense possibly damaging 0.86
R1531:Agtpbp1 UTSW 13 59,500,634 (GRCm38) splice site probably null
R1833:Agtpbp1 UTSW 13 59,465,983 (GRCm38) critical splice donor site probably null
R1864:Agtpbp1 UTSW 13 59,450,202 (GRCm38) missense possibly damaging 0.92
R1994:Agtpbp1 UTSW 13 59,531,058 (GRCm38) missense probably damaging 1.00
R1995:Agtpbp1 UTSW 13 59,531,058 (GRCm38) missense probably damaging 1.00
R2001:Agtpbp1 UTSW 13 59,475,803 (GRCm38) frame shift probably null
R2006:Agtpbp1 UTSW 13 59,500,321 (GRCm38) missense probably benign 0.00
R2397:Agtpbp1 UTSW 13 59,474,569 (GRCm38) missense probably benign 0.10
R2918:Agtpbp1 UTSW 13 59,497,015 (GRCm38) missense possibly damaging 0.90
R3873:Agtpbp1 UTSW 13 59,460,596 (GRCm38) missense possibly damaging 0.88
R3924:Agtpbp1 UTSW 13 59,500,407 (GRCm38) missense probably benign 0.01
R4649:Agtpbp1 UTSW 13 59,528,399 (GRCm38) missense possibly damaging 0.89
R4913:Agtpbp1 UTSW 13 59,500,072 (GRCm38) missense probably damaging 1.00
R4933:Agtpbp1 UTSW 13 59,500,572 (GRCm38) missense probably benign
R4969:Agtpbp1 UTSW 13 59,500,578 (GRCm38) missense probably benign
R5066:Agtpbp1 UTSW 13 59,474,550 (GRCm38) missense probably damaging 1.00
R5139:Agtpbp1 UTSW 13 59,500,213 (GRCm38) missense probably damaging 0.99
R5194:Agtpbp1 UTSW 13 59,500,639 (GRCm38) missense probably benign 0.19
R5269:Agtpbp1 UTSW 13 59,473,743 (GRCm38) missense probably damaging 1.00
R5352:Agtpbp1 UTSW 13 59,473,746 (GRCm38) missense probably damaging 1.00
R5558:Agtpbp1 UTSW 13 59,482,580 (GRCm38) missense probably benign 0.05
R5687:Agtpbp1 UTSW 13 59,500,515 (GRCm38) missense probably benign
R5824:Agtpbp1 UTSW 13 59,466,099 (GRCm38) missense probably damaging 1.00
R5979:Agtpbp1 UTSW 13 59,534,046 (GRCm38) nonsense probably null
R6109:Agtpbp1 UTSW 13 59,473,746 (GRCm38) missense probably damaging 1.00
R6264:Agtpbp1 UTSW 13 59,450,300 (GRCm38) missense possibly damaging 0.89
R6413:Agtpbp1 UTSW 13 59,500,020 (GRCm38) missense possibly damaging 0.90
R6498:Agtpbp1 UTSW 13 59,477,040 (GRCm38) missense possibly damaging 0.71
R6747:Agtpbp1 UTSW 13 59,544,353 (GRCm38) splice site probably null
R6950:Agtpbp1 UTSW 13 59,450,266 (GRCm38) missense probably benign 0.32
R7030:Agtpbp1 UTSW 13 59,504,294 (GRCm38) missense probably damaging 1.00
R7180:Agtpbp1 UTSW 13 59,466,038 (GRCm38) missense probably benign 0.11
R7196:Agtpbp1 UTSW 13 59,533,180 (GRCm38) missense possibly damaging 0.83
R7535:Agtpbp1 UTSW 13 59,504,253 (GRCm38) missense probably benign
R7683:Agtpbp1 UTSW 13 59,512,498 (GRCm38) missense probably damaging 1.00
R7713:Agtpbp1 UTSW 13 59,514,152 (GRCm38) missense probably damaging 0.99
R8081:Agtpbp1 UTSW 13 59,528,407 (GRCm38) nonsense probably null
R8210:Agtpbp1 UTSW 13 59,482,571 (GRCm38) missense possibly damaging 0.53
R8861:Agtpbp1 UTSW 13 59,495,473 (GRCm38) missense probably damaging 1.00
R9163:Agtpbp1 UTSW 13 59,462,070 (GRCm38) nonsense probably null
R9199:Agtpbp1 UTSW 13 59,465,994 (GRCm38) missense probably benign 0.00
R9414:Agtpbp1 UTSW 13 59,462,088 (GRCm38) missense probably damaging 1.00
R9435:Agtpbp1 UTSW 13 59,474,615 (GRCm38) missense probably benign 0.35
Predicted Primers PCR Primer
(F):5'- TCGAAGCAAAAGCTCTGAGAC -3'
(R):5'- TTAGAACTCAAGCGTGCGGC -3'

Sequencing Primer
(F):5'- GTAAATGTCACGTCTGACCAAGTCG -3'
(R):5'- TGCGGCTGCCTTCACTCAG -3'
Posted On 2022-04-18