Incidental Mutation 'IGL02551:Agbl3'
ID 298104
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 # IGL02551
Quality Score
Status
Chromosome 6
Chromosomal Location 34757367-34836394 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 34800006 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 638 (K638R)
Ref Sequence ENSEMBL: ENSMUSP00000110668 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115016] [ENSMUST00000115017] [ENSMUST00000148834]
AlphaFold Q8CDP0
Predicted Effect possibly damaging
Transcript: ENSMUST00000115016
AA Change: K638R

PolyPhen 2 Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000110668
Gene: ENSMUSG00000038836
AA Change: K638R

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: K633R

PolyPhen 2 Score 0.238 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000110669
Gene: ENSMUSG00000038836
AA Change: K633R

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 noncoding transcript
Transcript: ENSMUST00000118782
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: ENSMUST00000202017
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600012P17Rik G A 1: 158,796,618 (GRCm39) noncoding transcript Het
Abca8a T C 11: 109,975,068 (GRCm39) I109V probably benign Het
Acsm2 C T 7: 119,172,507 (GRCm39) P117S probably damaging Het
Adamts18 C A 8: 114,425,704 (GRCm39) C1186F probably damaging Het
Adamts5 A T 16: 85,666,926 (GRCm39) V522E possibly damaging Het
Adcy10 A G 1: 165,370,802 (GRCm39) T694A probably damaging Het
Adgra2 G A 8: 27,609,250 (GRCm39) V609I probably benign Het
Alpk2 T A 18: 65,505,822 (GRCm39) N66I probably damaging Het
Ap3b1 T A 13: 94,554,599 (GRCm39) I245N probably damaging Het
Aqp9 A G 9: 71,039,922 (GRCm39) V120A probably damaging Het
Arhgef17 T C 7: 100,579,553 (GRCm39) E465G probably damaging Het
Btrc G T 19: 45,411,573 (GRCm39) C31F possibly damaging Het
Calhm2 G A 19: 47,121,539 (GRCm39) S210L probably damaging Het
Cnksr3 C A 10: 7,102,912 (GRCm39) K153N probably damaging Het
Cnr1 T C 4: 33,943,686 (GRCm39) S25P probably benign Het
Dnajc6 T A 4: 101,496,550 (GRCm39) W838R probably damaging Het
Fam78a T A 2: 31,959,568 (GRCm39) T181S probably damaging Het
Fat1 A G 8: 45,504,435 (GRCm39) T4600A probably damaging Het
Fbxo31 A T 8: 122,293,083 (GRCm39) Y101N probably damaging Het
Glmp A G 3: 88,232,389 (GRCm39) M1V probably null Het
Gsdmc T A 15: 63,673,782 (GRCm39) T168S probably benign Het
Has1 C T 17: 18,068,560 (GRCm39) V265I probably damaging Het
Hmcn2 A G 2: 31,344,823 (GRCm39) D4670G possibly damaging Het
Kcnj4 C T 15: 79,369,103 (GRCm39) M292I probably benign Het
Kmo A T 1: 175,465,485 (GRCm39) S80C probably damaging Het
Lrrc8d C T 5: 105,961,414 (GRCm39) T608I possibly damaging Het
Mical2 A T 7: 111,923,197 (GRCm39) N635I probably benign Het
Nags T C 11: 102,038,767 (GRCm39) S403P probably damaging Het
Nalcn T A 14: 123,560,750 (GRCm39) I776F probably benign Het
Ncan A T 8: 70,555,112 (GRCm39) N1018K probably damaging Het
Notch3 T A 17: 32,373,705 (GRCm39) probably benign Het
Nup93 C T 8: 94,954,461 (GRCm39) Q53* probably null Het
Pdk2 T A 11: 94,919,412 (GRCm39) M288L probably benign Het
Pkd1 A G 17: 24,792,789 (GRCm39) Y1492C probably damaging Het
Pla2g12b T A 10: 59,239,692 (GRCm39) W34R probably damaging Het
Pla2g6 T A 15: 79,183,294 (GRCm39) D511V possibly damaging Het
Plin2 C A 4: 86,576,929 (GRCm39) M265I probably benign Het
Ppp6c A T 2: 39,096,669 (GRCm39) F78I probably damaging Het
Prop1 A T 11: 50,841,773 (GRCm39) M211K possibly damaging Het
Prr14l T A 5: 32,988,828 (GRCm39) E222D probably damaging Het
Rtkn A T 6: 83,128,905 (GRCm39) I454F probably damaging Het
Serinc2 T C 4: 130,154,567 (GRCm39) I226V probably benign Het
Sh3bp1 T A 15: 78,788,538 (GRCm39) H229Q probably benign Het
Slc13a3 G T 2: 165,266,493 (GRCm39) F348L probably damaging Het
Slc6a15 T A 10: 103,240,136 (GRCm39) probably benign Het
Spg7 G A 8: 123,803,717 (GRCm39) G249E probably damaging Het
Tbc1d2 T C 4: 46,649,916 (GRCm39) D40G probably benign Het
Tmcc2 A G 1: 132,285,317 (GRCm39) L683P probably damaging Het
Triobp T C 15: 78,857,689 (GRCm39) S1097P probably benign Het
Tspan9 T C 6: 127,942,726 (GRCm39) D167G probably null Het
Ttll6 T C 11: 96,045,526 (GRCm39) I581T probably benign Het
Usp29 A G 7: 6,966,352 (GRCm39) probably null Het
Vgll4 A G 6: 114,839,254 (GRCm39) W246R probably damaging Het
Vmn2r26 T C 6: 124,003,100 (GRCm39) V170A probably benign Het
Vmn2r62 T C 7: 42,437,930 (GRCm39) T185A probably benign Het
Vwce A G 19: 10,622,400 (GRCm39) H234R possibly damaging Het
Zfp292 T C 4: 34,806,462 (GRCm39) E2194G possibly damaging Het
Other mutations in Agbl3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00336:Agbl3 APN 6 34,823,771 (GRCm39) missense probably damaging 1.00
IGL00835:Agbl3 APN 6 34,776,667 (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
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 2015-04-16