Incidental Mutation 'IGL00835:Agbl3'
ID 12449
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Agbl3
Ensembl Gene ENSMUSG00000038836
Gene Name ATP/GTP binding protein-like 3
Synonyms Ccp3, 2900053G10Rik, 6530406M24Rik, Ccp3, 4930431N21Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00835
Quality Score
Status
Chromosome 6
Chromosomal Location 34757367-34836394 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 34776667 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 391 (D391G)
Ref Sequence ENSEMBL: ENSMUSP00000110668 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115016] [ENSMUST00000115017] [ENSMUST00000135304] [ENSMUST00000148834]
AlphaFold Q8CDP0
Predicted Effect probably damaging
Transcript: ENSMUST00000115016
AA Change: D391G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000110668
Gene: ENSMUSG00000038836
AA Change: D391G

DomainStartEndE-ValueType
low complexity region 2 25 N/A INTRINSIC
Pfam:Peptidase_M14 314 563 2.7e-19 PFAM
low complexity region 614 629 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000115017
AA Change: D386G

PolyPhen 2 Score 0.401 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000110669
Gene: ENSMUSG00000038836
AA Change: D386G

DomainStartEndE-ValueType
low complexity region 2 25 N/A INTRINSIC
Pfam:Peptidase_M14 309 560 1e-33 PFAM
low complexity region 609 624 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000135304
SMART Domains Protein: ENSMUSP00000118303
Gene: ENSMUSG00000038836

DomainStartEndE-ValueType
low complexity region 2 25 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143474
Predicted Effect probably benign
Transcript: ENSMUST00000148834
SMART Domains Protein: ENSMUSP00000116066
Gene: ENSMUSG00000038836

DomainStartEndE-ValueType
low complexity region 2 25 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155726
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202017
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155890
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous mice for a targeted allele are viable and fertile. Mice homozygous for a knock-out allele exhibit normal response to herpes simplex virus (HSV) and vaccinia virus (VACV) infection. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T C 1: 71,341,892 (GRCm39) D1023G probably damaging Het
Aggf1 C A 13: 95,498,985 (GRCm39) V450F probably damaging Het
Alms1 A G 6: 85,599,116 (GRCm39) Y1314C probably damaging Het
Arfgef3 A G 10: 18,537,106 (GRCm39) F192L probably benign Het
Arnt A G 3: 95,397,651 (GRCm39) D541G probably damaging Het
AU040320 A G 4: 126,650,864 (GRCm39) probably null Het
Cep290 A T 10: 100,399,242 (GRCm39) R2255* probably null Het
Creb3l4 T A 3: 90,149,294 (GRCm39) H138L possibly damaging Het
Crispld2 G A 8: 120,737,387 (GRCm39) R46H probably damaging Het
Crlf3 T C 11: 79,938,501 (GRCm39) T379A probably benign Het
Ctsb T A 14: 63,373,099 (GRCm39) D85E probably damaging Het
Etv2 A T 7: 30,333,092 (GRCm39) D325E probably benign Het
Fggy T A 4: 95,725,865 (GRCm39) I335N possibly damaging Het
Fkbp1b C T 12: 4,883,726 (GRCm39) G90S probably damaging Het
Glra3 A G 8: 56,394,012 (GRCm39) probably benign Het
Gpatch8 C A 11: 102,369,375 (GRCm39) A1388S probably damaging Het
Grin2b T A 6: 135,710,568 (GRCm39) S993C probably damaging Het
Gsg1 A T 6: 135,221,090 (GRCm39) M103K possibly damaging Het
Il12rb2 A T 6: 67,337,551 (GRCm39) V110D probably damaging Het
Kat8 A G 7: 127,519,676 (GRCm39) D174G probably damaging Het
Krt82 A T 15: 101,451,813 (GRCm39) I334N probably damaging Het
Lrrfip1 C T 1: 91,043,140 (GRCm39) T515I possibly damaging Het
Lrrtm2 T A 18: 35,347,292 (GRCm39) L3F probably benign Het
Man1c1 T A 4: 134,291,843 (GRCm39) Q575L probably damaging Het
Panx1 A G 9: 14,919,140 (GRCm39) S240P probably damaging Het
Phldb2 G A 16: 45,571,819 (GRCm39) T1191I probably damaging Het
Plb1 G A 5: 32,521,516 (GRCm39) E1456K unknown Het
Prtn3 A G 10: 79,716,886 (GRCm39) T84A probably benign Het
R3hdm1 T C 1: 128,163,369 (GRCm39) probably benign Het
Sirpa G A 2: 129,451,103 (GRCm39) C121Y probably damaging Het
Slc9a3 C A 13: 74,308,421 (GRCm39) H475N probably benign Het
Smgc A T 15: 91,728,623 (GRCm39) D121V probably damaging Het
Spata16 A T 3: 26,978,411 (GRCm39) E459V probably damaging Het
Sult2a4 T A 7: 13,643,714 (GRCm39) E284D probably benign Het
Tbc1d32 A G 10: 55,965,942 (GRCm39) probably benign Het
Thsd7a A C 6: 12,554,933 (GRCm39) V317G probably damaging Het
Trh T C 6: 92,219,770 (GRCm39) E182G probably benign Het
Tsc1 A G 2: 28,562,478 (GRCm39) D368G possibly damaging Het
Ttc39d T G 17: 80,523,955 (GRCm39) C205G probably damaging Het
Unc79 T G 12: 103,108,149 (GRCm39) probably benign Het
Vps13d A T 4: 144,887,222 (GRCm39) D724E probably damaging Het
Zc3h14 T A 12: 98,713,783 (GRCm39) probably null Het
Zfp507 G T 7: 35,475,463 (GRCm39) H917N probably damaging Het
Other mutations in Agbl3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00336:Agbl3 APN 6 34,823,771 (GRCm39) missense probably damaging 1.00
IGL00840:Agbl3 APN 6 34,776,094 (GRCm39) missense possibly damaging 0.95
IGL01090:Agbl3 APN 6 34,776,822 (GRCm39) missense probably benign 0.40
IGL01123:Agbl3 APN 6 34,823,911 (GRCm39) nonsense probably null
IGL01707:Agbl3 APN 6 34,816,389 (GRCm39) missense possibly damaging 0.78
IGL01728:Agbl3 APN 6 34,759,092 (GRCm39) start codon destroyed probably null
IGL02335:Agbl3 APN 6 34,776,685 (GRCm39) missense probably damaging 1.00
IGL02420:Agbl3 APN 6 34,762,242 (GRCm39) missense possibly damaging 0.47
IGL02551:Agbl3 APN 6 34,800,006 (GRCm39) missense possibly damaging 0.88
IGL02974:Agbl3 APN 6 34,776,757 (GRCm39) missense probably damaging 1.00
IGL03167:Agbl3 APN 6 34,834,594 (GRCm39) missense possibly damaging 0.92
IGL03182:Agbl3 APN 6 34,780,435 (GRCm39) missense probably damaging 1.00
R0044:Agbl3 UTSW 6 34,776,834 (GRCm39) missense probably damaging 1.00
R0499:Agbl3 UTSW 6 34,816,270 (GRCm39) missense probably benign
R0639:Agbl3 UTSW 6 34,776,640 (GRCm39) missense probably damaging 1.00
R0850:Agbl3 UTSW 6 34,776,139 (GRCm39) missense probably damaging 1.00
R1004:Agbl3 UTSW 6 34,780,386 (GRCm39) missense probably damaging 0.99
R1080:Agbl3 UTSW 6 34,805,170 (GRCm39) missense probably benign 0.14
R1589:Agbl3 UTSW 6 34,834,452 (GRCm39) missense possibly damaging 0.77
R2361:Agbl3 UTSW 6 34,809,440 (GRCm39) missense possibly damaging 0.87
R2495:Agbl3 UTSW 6 34,823,699 (GRCm39) missense probably damaging 1.00
R3236:Agbl3 UTSW 6 34,800,022 (GRCm39) splice site probably null
R3237:Agbl3 UTSW 6 34,800,022 (GRCm39) splice site probably null
R3420:Agbl3 UTSW 6 34,770,900 (GRCm39) missense probably benign 0.36
R3421:Agbl3 UTSW 6 34,770,900 (GRCm39) missense probably benign 0.36
R3422:Agbl3 UTSW 6 34,770,900 (GRCm39) missense probably benign 0.36
R3810:Agbl3 UTSW 6 34,776,664 (GRCm39) missense probably damaging 1.00
R3811:Agbl3 UTSW 6 34,776,664 (GRCm39) missense probably damaging 1.00
R4059:Agbl3 UTSW 6 34,823,834 (GRCm39) missense probably damaging 1.00
R4499:Agbl3 UTSW 6 34,834,533 (GRCm39) missense probably benign 0.00
R4687:Agbl3 UTSW 6 34,775,261 (GRCm39) missense probably damaging 1.00
R4854:Agbl3 UTSW 6 34,762,219 (GRCm39) missense probably damaging 0.97
R5354:Agbl3 UTSW 6 34,791,687 (GRCm39) missense probably benign 0.03
R5386:Agbl3 UTSW 6 34,776,131 (GRCm39) missense probably damaging 1.00
R5897:Agbl3 UTSW 6 34,780,508 (GRCm39) missense probably benign 0.21
R6018:Agbl3 UTSW 6 34,776,190 (GRCm39) missense probably damaging 1.00
R6148:Agbl3 UTSW 6 34,834,688 (GRCm39) missense possibly damaging 0.87
R6305:Agbl3 UTSW 6 34,759,145 (GRCm39) missense unknown
R6525:Agbl3 UTSW 6 34,780,529 (GRCm39) nonsense probably null
R6546:Agbl3 UTSW 6 34,776,234 (GRCm39) missense probably damaging 1.00
R6743:Agbl3 UTSW 6 34,823,888 (GRCm39) missense probably benign 0.03
R6986:Agbl3 UTSW 6 34,816,387 (GRCm39) missense probably benign 0.42
R7023:Agbl3 UTSW 6 34,791,704 (GRCm39) missense probably benign 0.02
R7411:Agbl3 UTSW 6 34,791,754 (GRCm39) missense probably damaging 0.99
R7469:Agbl3 UTSW 6 34,791,349 (GRCm39) missense probably damaging 1.00
R7631:Agbl3 UTSW 6 34,834,606 (GRCm39) missense possibly damaging 0.95
R7658:Agbl3 UTSW 6 34,809,443 (GRCm39) missense probably benign 0.11
R7743:Agbl3 UTSW 6 34,823,765 (GRCm39) missense probably damaging 1.00
R7801:Agbl3 UTSW 6 34,816,300 (GRCm39) missense probably benign 0.00
R8033:Agbl3 UTSW 6 34,816,429 (GRCm39) missense possibly damaging 0.95
R8203:Agbl3 UTSW 6 34,776,414 (GRCm39) missense probably damaging 1.00
R8769:Agbl3 UTSW 6 34,834,549 (GRCm39) missense probably damaging 0.96
R9072:Agbl3 UTSW 6 34,776,387 (GRCm39) missense probably damaging 1.00
R9073:Agbl3 UTSW 6 34,776,387 (GRCm39) missense probably damaging 1.00
R9210:Agbl3 UTSW 6 34,775,177 (GRCm39) missense probably damaging 0.98
R9255:Agbl3 UTSW 6 34,789,840 (GRCm39) missense probably damaging 1.00
R9536:Agbl3 UTSW 6 34,823,861 (GRCm39) missense probably benign
R9560:Agbl3 UTSW 6 34,823,843 (GRCm39) missense possibly damaging 0.94
R9662:Agbl3 UTSW 6 34,809,468 (GRCm39) nonsense probably null
RF014:Agbl3 UTSW 6 34,776,293 (GRCm39) missense possibly damaging 0.53
Z1177:Agbl3 UTSW 6 34,776,343 (GRCm39) missense probably damaging 1.00
Posted On 2012-12-06