Incidental Mutation 'IGL02420:Agbl3'
ID292649
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 #IGL02420
Quality Score
Status
Chromosome6
Chromosomal Location34780432-34859459 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 34785307 bp
ZygosityHeterozygous
Amino Acid Change Serine to Threonine at position 81 (S81T)
Ref Sequence ENSEMBL: ENSMUSP00000110669 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115009] [ENSMUST00000115012] [ENSMUST00000115014] [ENSMUST00000115016] [ENSMUST00000115017] [ENSMUST00000135304] [ENSMUST00000148834]
Predicted Effect probably benign
Transcript: ENSMUST00000115009
Predicted Effect probably benign
Transcript: ENSMUST00000115012
Predicted Effect possibly damaging
Transcript: ENSMUST00000115014
AA Change: S81T

PolyPhen 2 Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000110666
Gene: ENSMUSG00000038836
AA Change: S81T

DomainStartEndE-ValueType
low complexity region 2 25 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000115016
AA Change: S81T

PolyPhen 2 Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000110668
Gene: ENSMUSG00000038836
AA Change: S81T

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 possibly damaging
Transcript: ENSMUST00000115017
AA Change: S81T

PolyPhen 2 Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000110669
Gene: ENSMUSG00000038836
AA Change: S81T

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: ENSMUST00000119745
Predicted Effect probably benign
Transcript: ENSMUST00000135304
AA Change: S81T

PolyPhen 2 Score 0.401 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000118303
Gene: ENSMUSG00000038836
AA Change: S81T

DomainStartEndE-ValueType
low complexity region 2 25 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143474
Predicted Effect probably benign
Transcript: ENSMUST00000148834
AA Change: S81T

PolyPhen 2 Score 0.401 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000116066
Gene: ENSMUSG00000038836
AA Change: S81T

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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700061G19Rik A G 17: 56,880,494 N136S probably damaging Het
3110062M04Rik T C 6: 34,874,469 Y150C probably damaging Het
Adcy8 A G 15: 64,787,454 S496P probably damaging Het
Apobec1 A T 6: 122,581,572 Y75N probably benign Het
Asic2 A G 11: 80,881,653 L517P probably benign Het
Atp8a1 A G 5: 67,682,783 S752P probably damaging Het
Blm T C 7: 80,496,006 Y775C probably damaging Het
C1qtnf5 T C 9: 44,108,604 I175T probably benign Het
Ccdc81 G A 7: 89,875,738 T545I probably benign Het
Ccdc88b T C 19: 6,856,949 E174G probably damaging Het
Chl1 G A 6: 103,715,369 V1066M probably damaging Het
Cntn6 T A 6: 104,846,142 probably null Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Cysrt1 T C 2: 25,239,348 I51V probably benign Het
Dnah7a T C 1: 53,686,543 N69S probably benign Het
Fam83d T C 2: 158,785,735 L448P probably benign Het
Gm9631 G A 11: 121,943,652 Het
Hmcn1 T C 1: 150,722,424 Y1709C probably damaging Het
Inppl1 G A 7: 101,832,319 probably benign Het
Iqcc T C 4: 129,616,955 T256A probably benign Het
Lyst G A 13: 13,660,956 C1741Y probably benign Het
Lyz1 A T 10: 117,288,630 C134S probably damaging Het
Mpzl3 T C 9: 45,066,517 I141T possibly damaging Het
Mterf1a T C 5: 3,891,047 N274D probably damaging Het
Myo18a T A 11: 77,818,693 V543D possibly damaging Het
Myo18b A T 5: 112,827,986 D1332E possibly damaging Het
Olfr458 A G 6: 42,460,176 V281A probably benign Het
Pcdh15 A T 10: 74,303,106 D333V probably damaging Het
Plekha7 A G 7: 116,158,234 Y494H probably damaging Het
Plekhg1 A G 10: 3,964,106 N1276S probably damaging Het
Ppig T C 2: 69,732,227 V5A probably benign Het
Prag1 A T 8: 36,147,426 probably benign Het
Prom1 T C 5: 44,063,154 N84S probably benign Het
Ptprh T A 7: 4,580,930 Y221F probably damaging Het
Qsox2 A G 2: 26,220,719 Y162H probably benign Het
Rab2a C T 4: 8,572,553 T49M possibly damaging Het
Ring1 A G 17: 34,023,148 S96P possibly damaging Het
Ripk3 A G 14: 55,785,234 F411S probably benign Het
Rock1 T C 18: 10,070,619 probably null Het
Rtn4rl1 A G 11: 75,265,819 N359S probably damaging Het
Ssfa2 T C 2: 79,635,642 S35P probably damaging Het
Sufu A G 19: 46,425,042 T76A probably damaging Het
Sugct C A 13: 17,452,468 V267F probably damaging Het
Tcf4 A T 18: 69,564,139 R29W probably damaging Het
Tnfsf18 A T 1: 161,503,589 I103L probably benign Het
Vwf A G 6: 125,677,916 E2525G probably benign 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
IGL01090:Agbl3 APN 6 34799887 missense probably benign 0.40
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
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
R8033:Agbl3 UTSW 6 34839494 missense not run
RF014:Agbl3 UTSW 6 34799358 missense possibly damaging 0.53
Z1177:Agbl3 UTSW 6 34799408 missense not run
Posted On2015-04-16