Incidental Mutation 'IGL01090:Agbl3'
ID51294
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Agbl3
Ensembl Gene ENSMUSG00000038836
Gene NameATP/GTP binding protein-like 3
Synonyms4930431N21Rik, 2900053G10Rik, 6530406M24Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01090
Quality Score
Status
Chromosome6
Chromosomal Location34780432-34859459 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 34799887 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 443 (Y443H)
Ref Sequence ENSEMBL: ENSMUSP00000110668 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115016] [ENSMUST00000115017] [ENSMUST00000135304] [ENSMUST00000148834]
Predicted Effect probably benign
Transcript: ENSMUST00000115016
AA Change: Y443H

PolyPhen 2 Score 0.397 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000110668
Gene: ENSMUSG00000038836
AA Change: Y443H

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: Y438H

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000110669
Gene: ENSMUSG00000038836
AA Change: Y438H

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: ENSMUST00000155890
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930590J08Rik T C 6: 91,919,118 S316P possibly damaging Het
Actn1 A T 12: 80,199,072 probably null Het
Akap13 T A 7: 75,666,531 D578E probably benign Het
Aldoa A T 7: 126,796,035 H292Q probably benign Het
Als2 T C 1: 59,215,616 K194R possibly damaging Het
Bivm C A 1: 44,129,291 H244N probably damaging Het
Cabp5 G A 7: 13,405,487 E146K probably damaging Het
Cfap206 C T 4: 34,721,562 S162N probably damaging Het
Clcn4 A G 7: 7,294,036 V129A probably benign Het
Clec4g A G 8: 3,719,482 S54P probably damaging Het
Crim1 G T 17: 78,347,229 V645L probably damaging Het
Csta1 T C 16: 36,125,051 T31A probably damaging Het
D930048N14Rik T C 11: 51,653,783 probably benign Het
Dhx34 G T 7: 16,216,256 P329Q probably damaging Het
Dusp16 T C 6: 134,725,949 N193S probably benign Het
Fbn1 A G 2: 125,394,776 probably benign Het
Fbxo46 A G 7: 19,136,803 Y449C probably damaging Het
Fmo4 C A 1: 162,809,785 probably null Het
Foxi3 C A 6: 70,960,745 N320K probably damaging Het
Gm9964 A G 11: 79,296,384 L79P unknown Het
Gpr161 T C 1: 165,306,580 I137T probably damaging Het
Herc1 C T 9: 66,469,175 Q3426* probably null Het
Hps5 C T 7: 46,788,327 R108H probably benign Het
Itch T A 2: 155,206,336 V540E probably damaging Het
L3mbtl1 C A 2: 162,966,005 P520H probably damaging Het
Mvp A G 7: 126,989,687 V636A probably benign Het
Odf4 A G 11: 68,921,952 probably benign Het
Olfr830 A G 9: 18,876,242 K305R probably benign Het
Pld1 T C 3: 28,088,667 S675P probably benign Het
Plod3 A G 5: 136,990,236 D325G probably benign Het
Prss12 T C 3: 123,482,739 V339A possibly damaging Het
Ptpn13 T A 5: 103,541,314 L991Q probably null Het
Ptpn3 T A 4: 57,240,833 I261F probably damaging Het
Rab3gap1 T C 1: 127,930,387 probably benign Het
Rasa4 A G 5: 136,101,993 R373G possibly damaging Het
Rmi1 T C 13: 58,409,394 S486P probably damaging Het
Slc25a23 A G 17: 57,047,233 I139T probably benign Het
Sspo T A 6: 48,490,125 S4017T probably benign Het
Tcaf1 C A 6: 42,686,622 C108F probably benign Het
Tnc T C 4: 64,000,080 Q1198R probably damaging Het
Tnni3k G T 3: 154,939,683 Q522K possibly damaging Het
Trio T A 15: 27,773,007 E713V probably damaging Het
Ugt2b34 C A 5: 86,893,820 V338F probably damaging Het
Usp40 T A 1: 87,962,465 M892L probably benign Het
Usp54 A T 14: 20,586,157 probably benign Het
Vmn2r53 T C 7: 12,600,908 E275G possibly damaging Het
Vmn2r87 A G 10: 130,497,378 M1T probably null Het
Wdr66 A C 5: 123,279,989 probably benign Het
Wdr83os A T 8: 85,081,847 D76V probably damaging Het
Other mutations in Agbl3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00336:Agbl3 APN 6 34846836 missense probably damaging 1.00
IGL00835:Agbl3 APN 6 34799732 missense probably damaging 1.00
IGL00840:Agbl3 APN 6 34799159 missense possibly damaging 0.95
IGL01123:Agbl3 APN 6 34846976 nonsense probably null
IGL01707:Agbl3 APN 6 34839454 missense possibly damaging 0.78
IGL01728:Agbl3 APN 6 34782157 start codon destroyed probably null
IGL02335:Agbl3 APN 6 34799750 missense probably damaging 1.00
IGL02420:Agbl3 APN 6 34785307 missense possibly damaging 0.47
IGL02551:Agbl3 APN 6 34823071 missense possibly damaging 0.88
IGL02974:Agbl3 APN 6 34799822 missense probably damaging 1.00
IGL03167:Agbl3 APN 6 34857659 missense possibly damaging 0.92
IGL03182:Agbl3 APN 6 34803500 missense probably damaging 1.00
R0044:Agbl3 UTSW 6 34799899 missense probably damaging 1.00
R0499:Agbl3 UTSW 6 34839335 missense probably benign
R0639:Agbl3 UTSW 6 34799705 missense probably damaging 1.00
R0850:Agbl3 UTSW 6 34799204 missense probably damaging 1.00
R1004:Agbl3 UTSW 6 34803451 missense probably damaging 0.99
R1080:Agbl3 UTSW 6 34828235 missense probably benign 0.14
R1589:Agbl3 UTSW 6 34857517 missense possibly damaging 0.77
R2361:Agbl3 UTSW 6 34832505 missense possibly damaging 0.87
R2495:Agbl3 UTSW 6 34846764 missense probably damaging 1.00
R3236:Agbl3 UTSW 6 34823087 splice site probably null
R3237:Agbl3 UTSW 6 34823087 splice site probably null
R3420:Agbl3 UTSW 6 34793965 missense probably benign 0.36
R3421:Agbl3 UTSW 6 34793965 missense probably benign 0.36
R3422:Agbl3 UTSW 6 34793965 missense probably benign 0.36
R3810:Agbl3 UTSW 6 34799729 missense probably damaging 1.00
R3811:Agbl3 UTSW 6 34799729 missense probably damaging 1.00
R4059:Agbl3 UTSW 6 34846899 missense probably damaging 1.00
R4499:Agbl3 UTSW 6 34857598 missense probably benign 0.00
R4687:Agbl3 UTSW 6 34798326 missense probably damaging 1.00
R4854:Agbl3 UTSW 6 34785284 missense probably damaging 0.97
R5354:Agbl3 UTSW 6 34814752 missense probably benign 0.03
R5386:Agbl3 UTSW 6 34799196 missense probably damaging 1.00
R5897:Agbl3 UTSW 6 34803573 missense probably benign 0.21
R6018:Agbl3 UTSW 6 34799255 missense probably damaging 1.00
R6148:Agbl3 UTSW 6 34857753 missense possibly damaging 0.87
R6305:Agbl3 UTSW 6 34782210 missense unknown
R6525:Agbl3 UTSW 6 34803594 nonsense probably null
R6546:Agbl3 UTSW 6 34799299 missense probably damaging 1.00
R6743:Agbl3 UTSW 6 34846953 missense probably benign 0.03
R6986:Agbl3 UTSW 6 34839452 missense probably benign 0.42
R7023:Agbl3 UTSW 6 34814769 missense probably benign 0.02
R7411:Agbl3 UTSW 6 34814819 missense probably damaging 0.99
R7469:Agbl3 UTSW 6 34814414 missense probably damaging 1.00
R7631:Agbl3 UTSW 6 34857671 missense possibly damaging 0.95
R7658:Agbl3 UTSW 6 34832508 missense probably benign 0.11
R7743:Agbl3 UTSW 6 34846830 missense probably damaging 1.00
R7801:Agbl3 UTSW 6 34839365 missense probably benign 0.00
RF014:Agbl3 UTSW 6 34799358 missense possibly damaging 0.53
Posted On2013-06-21