Incidental Mutation 'IGL02715:Agbl2'
ID304723
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Agbl2
Ensembl Gene ENSMUSG00000040812
Gene NameATP/GTP binding protein-like 2
SynonymsA430081C19Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02715
Quality Score
Status
Chromosome2
Chromosomal Location90782727-90834437 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 90805868 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Tryptophan at position 583 (R583W)
Ref Sequence ENSEMBL: ENSMUSP00000051620 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037206] [ENSMUST00000037219] [ENSMUST00000051831] [ENSMUST00000111481] [ENSMUST00000136058] [ENSMUST00000170320]
Predicted Effect possibly damaging
Transcript: ENSMUST00000037206
AA Change: R583W

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000047936
Gene: ENSMUSG00000040812
AA Change: R583W

DomainStartEndE-ValueType
low complexity region 98 106 N/A INTRINSIC
Pfam:Peptidase_M14 375 541 1.8e-18 PFAM
low complexity region 640 655 N/A INTRINSIC
low complexity region 674 689 N/A INTRINSIC
low complexity region 761 776 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000037219
AA Change: R583W

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000048647
Gene: ENSMUSG00000040812
AA Change: R583W

DomainStartEndE-ValueType
low complexity region 98 106 N/A INTRINSIC
Pfam:Peptidase_M14 374 618 5e-32 PFAM
low complexity region 640 655 N/A INTRINSIC
low complexity region 674 689 N/A INTRINSIC
low complexity region 761 776 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000051831
AA Change: R583W

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000051620
Gene: ENSMUSG00000040812
AA Change: R583W

DomainStartEndE-ValueType
low complexity region 98 106 N/A INTRINSIC
Pfam:Peptidase_M14 376 565 1.6e-18 PFAM
low complexity region 640 655 N/A INTRINSIC
low complexity region 674 689 N/A INTRINSIC
low complexity region 761 776 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000111481
AA Change: R583W

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000107106
Gene: ENSMUSG00000040812
AA Change: R583W

DomainStartEndE-ValueType
low complexity region 98 106 N/A INTRINSIC
Pfam:Peptidase_M14 374 618 5e-32 PFAM
low complexity region 640 655 N/A INTRINSIC
low complexity region 674 689 N/A INTRINSIC
low complexity region 761 776 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000118431
Predicted Effect probably damaging
Transcript: ENSMUST00000136058
AA Change: R583W

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000115632
Gene: ENSMUSG00000040812
AA Change: R583W

DomainStartEndE-ValueType
low complexity region 98 106 N/A INTRINSIC
Pfam:Peptidase_M14 374 618 2.8e-32 PFAM
low complexity region 640 655 N/A INTRINSIC
low complexity region 674 689 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149037
Predicted Effect possibly damaging
Transcript: ENSMUST00000170320
AA Change: R583W

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000129216
Gene: ENSMUSG00000040812
AA Change: R583W

DomainStartEndE-ValueType
low complexity region 98 106 N/A INTRINSIC
Pfam:Peptidase_M14 376 558 1.8e-18 PFAM
low complexity region 640 655 N/A INTRINSIC
low complexity region 674 689 N/A INTRINSIC
low complexity region 761 776 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous mice for a targeted allele are viable and fertile. Mice 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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik T C 11: 72,198,888 I57V probably damaging Het
Abce1 T A 8: 79,690,361 E340D probably damaging Het
Aig1 A G 10: 13,868,616 probably null Het
Brd3 C A 2: 27,454,483 A412S possibly damaging Het
C3 A G 17: 57,204,158 probably benign Het
Ccdc127 A G 13: 74,356,774 E147G probably benign Het
Chrna4 A G 2: 181,029,581 probably benign Het
Cnn2 T C 10: 79,993,489 L151P probably damaging Het
Col11a1 G T 3: 114,129,409 M7I probably benign Het
Fam173b A G 15: 31,606,003 T36A probably benign Het
Fastkd1 A G 2: 69,712,125 probably null Het
Fcho2 A G 13: 98,796,335 M53T probably damaging Het
Fmnl2 T C 2: 53,072,210 Y236H possibly damaging Het
G6bos A G 17: 35,065,561 probably null Het
Gm5483 T C 16: 36,187,945 I67T possibly damaging Het
Gramd1a C T 7: 31,135,854 G436D probably damaging Het
Hivep2 A G 10: 14,131,387 Y1243C probably benign Het
Lrit2 A G 14: 37,072,548 D523G probably benign Het
Lrrc2 A C 9: 110,970,114 D177A probably damaging Het
Lyst T A 13: 13,674,320 probably null Het
Mrgpra6 A T 7: 47,188,648 probably benign Het
Myh6 T C 14: 54,946,908 probably benign Het
Myzap C A 9: 71,515,115 E392* probably null Het
Ndst3 G A 3: 123,546,761 probably benign Het
Nlrc5 C A 8: 94,474,668 P130H probably damaging Het
Obscn T C 11: 59,080,311 T2526A probably benign Het
Olfr385 T A 11: 73,589,121 I206F probably benign Het
Pcnt C A 10: 76,368,722 probably benign Het
Pfpl T A 19: 12,429,781 C465* probably null Het
Pkd1l3 T A 8: 109,626,826 C680S probably damaging Het
Ppp1r10 G T 17: 35,930,712 G793V unknown Het
Prss27 A T 17: 24,044,979 D213V possibly damaging Het
Sh2d5 T C 4: 138,256,707 probably benign Het
Spata31d1a T C 13: 59,703,735 D193G probably benign Het
Sptan1 T C 2: 29,978,576 V66A probably benign Het
Synpr T C 14: 13,608,618 S133P probably damaging Het
Tagln3 T C 16: 45,724,225 N28D probably benign Het
Tfrc A G 16: 32,624,371 T494A probably benign Het
Tmem38a T C 8: 72,579,668 I77T possibly damaging Het
Tmem42 C A 9: 123,022,230 T86N probably damaging Het
Ttc8 T A 12: 98,943,920 probably benign Het
Tub G A 7: 109,029,310 V342I probably benign Het
Vmn2r103 A T 17: 19,793,956 I337F probably damaging Het
Xkr7 A G 2: 153,054,357 E377G probably damaging Het
Zfp292 C T 4: 34,819,542 G260D probably damaging Het
Other mutations in Agbl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00471:Agbl2 APN 2 90801045 missense probably damaging 1.00
IGL00515:Agbl2 APN 2 90793960 missense possibly damaging 0.93
IGL01694:Agbl2 APN 2 90801074 missense probably damaging 1.00
IGL02064:Agbl2 APN 2 90784024 utr 5 prime probably benign
IGL02708:Agbl2 APN 2 90801342 missense probably benign 0.23
IGL02717:Agbl2 APN 2 90805868 missense probably damaging 0.99
IGL02982:Agbl2 APN 2 90805815 missense probably damaging 1.00
IGL03039:Agbl2 APN 2 90801222 missense possibly damaging 0.93
IGL03339:Agbl2 APN 2 90797563 missense probably damaging 1.00
R0243:Agbl2 UTSW 2 90791481 missense possibly damaging 0.80
R0381:Agbl2 UTSW 2 90784098 missense probably damaging 1.00
R0441:Agbl2 UTSW 2 90797483 nonsense probably null
R0549:Agbl2 UTSW 2 90789843 splice site probably benign
R0665:Agbl2 UTSW 2 90801210 missense probably damaging 1.00
R1412:Agbl2 UTSW 2 90788954 missense probably benign
R1682:Agbl2 UTSW 2 90784090 missense probably benign 0.06
R1694:Agbl2 UTSW 2 90801320 missense probably damaging 1.00
R1733:Agbl2 UTSW 2 90810745 missense probably damaging 1.00
R1750:Agbl2 UTSW 2 90816376 utr 3 prime probably benign
R1916:Agbl2 UTSW 2 90815441 missense possibly damaging 0.73
R1940:Agbl2 UTSW 2 90811282 missense probably damaging 0.99
R3115:Agbl2 UTSW 2 90805901 missense possibly damaging 0.85
R3407:Agbl2 UTSW 2 90791618 missense probably damaging 1.00
R3710:Agbl2 UTSW 2 90805808 missense probably benign 0.00
R4227:Agbl2 UTSW 2 90801453 missense probably damaging 0.96
R4719:Agbl2 UTSW 2 90815389 missense probably benign 0.01
R4903:Agbl2 UTSW 2 90797473 missense possibly damaging 0.50
R5170:Agbl2 UTSW 2 90803197 missense probably benign 0.10
R5535:Agbl2 UTSW 2 90810006 missense probably benign 0.26
R5677:Agbl2 UTSW 2 90807978 missense possibly damaging 0.66
R6041:Agbl2 UTSW 2 90808027 missense probably benign 0.00
R6195:Agbl2 UTSW 2 90813313 missense probably benign 0.02
R6233:Agbl2 UTSW 2 90813313 missense probably benign 0.02
R6607:Agbl2 UTSW 2 90801326 missense probably damaging 0.99
R6752:Agbl2 UTSW 2 90803074 missense probably damaging 1.00
Posted On2015-04-16