Incidental Mutation 'R7516:Agbl1'
ID 582460
Institutional Source Beutler Lab
Gene Symbol Agbl1
Ensembl Gene ENSMUSG00000025754
Gene Name ATP/GTP binding protein-like 1
Synonyms Nna1-l1, Ccp4, EG244071
MMRRC Submission 045589-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7516 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 75879635-76774446 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 76075669 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 437 (Y437C)
Ref Sequence ENSEMBL: ENSMUSP00000103066 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026854] [ENSMUST00000107442] [ENSMUST00000156166]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000026854
AA Change: Y437C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000026854
Gene: ENSMUSG00000025754
AA Change: Y437C

DomainStartEndE-ValueType
low complexity region 48 64 N/A INTRINSIC
Pfam:Peptidase_M14 493 631 4.4e-22 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000107442
AA Change: Y437C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103066
Gene: ENSMUSG00000025754
AA Change: Y437C

DomainStartEndE-ValueType
low complexity region 48 64 N/A INTRINSIC
Pfam:Peptidase_M14 494 754 3.1e-27 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000156166
AA Change: Y689C
SMART Domains Protein: ENSMUSP00000119721
Gene: ENSMUSG00000025754
AA Change: Y689C

DomainStartEndE-ValueType
low complexity region 254 270 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Polyglutamylation is a reversible posttranslational modification catalyzed by polyglutamylases that results in the addition of glutamate side chains on the modified protein. This gene encodes a glutamate decarboxylase that catalyzes the deglutamylation of polyglutamylated proteins. Mutations in this gene result in dominant late-onset Fuchs corneal dystrophy. [provided by RefSeq, Nov 2013]
PHENOTYPE: 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

All alleles(2) : Targeted(2)

Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam28 T A 14: 68,868,125 (GRCm39) I407F probably damaging Het
Alkbh5 T C 11: 60,429,979 (GRCm39) V244A probably damaging Het
Arap1 T C 7: 101,058,538 (GRCm39) F1390L probably benign Het
Asph T C 4: 9,630,940 (GRCm39) D136G possibly damaging Het
Atp8a2 A T 14: 60,094,516 (GRCm39) Y841N probably damaging Het
Cald1 A T 6: 34,686,492 (GRCm39) probably benign Het
Capn11 A G 17: 45,949,766 (GRCm39) I400T possibly damaging Het
Cdh18 T A 15: 23,259,684 (GRCm39) probably null Het
Ces2h T A 8: 105,743,458 (GRCm39) L204Q probably damaging Het
Chrna3 G A 9: 54,922,653 (GRCm39) A385V probably benign Het
Clca4a A T 3: 144,672,009 (GRCm39) L311Q probably damaging Het
Clip1 A G 5: 123,721,448 (GRCm39) V1149A probably benign Het
Clip3 T A 7: 29,998,268 (GRCm39) V238D possibly damaging Het
Col12a1 A G 9: 79,520,192 (GRCm39) probably null Het
Coro2a A G 4: 46,562,992 (GRCm39) V54A probably benign Het
Crem T C 18: 3,299,141 (GRCm39) probably null Het
Dennd5b T C 6: 148,969,878 (GRCm39) I192V probably benign Het
Dst A G 1: 34,209,560 (GRCm39) N1209S probably benign Het
Ero1a T A 14: 45,525,480 (GRCm39) M385L probably benign Het
Fam13a A T 6: 58,932,248 (GRCm39) V375D probably damaging Het
Fgfbp3 T A 19: 36,896,324 (GRCm39) Y98F possibly damaging Het
Frem3 T C 8: 81,338,712 (GRCm39) V335A probably damaging Het
Gm19410 T A 8: 36,263,433 (GRCm39) D951E probably benign Het
Gpatch1 T C 7: 35,007,625 (GRCm39) D145G probably benign Het
H60c G T 10: 3,209,746 (GRCm39) C180* probably null Het
Hmcn1 T C 1: 150,498,718 (GRCm39) T4054A probably benign Het
Hrg A G 16: 22,780,048 (GRCm39) Y442C unknown Het
Hspg2 C T 4: 137,269,931 (GRCm39) R2327C possibly damaging Het
Klhl31 G T 9: 77,558,429 (GRCm39) A382S probably damaging Het
Knl1 T C 2: 118,901,179 (GRCm39) V960A probably damaging Het
Lztr1 C T 16: 17,327,525 (GRCm39) A76V possibly damaging Het
Me3 G T 7: 89,497,183 (GRCm39) E395* probably null Het
Morc2b G A 17: 33,356,435 (GRCm39) H446Y probably benign Het
Mroh7 A T 4: 106,548,316 (GRCm39) M1054K probably benign Het
Ms4a6b T C 19: 11,506,907 (GRCm39) V232A probably benign Het
Nmt2 C A 2: 3,313,767 (GRCm39) D224E probably damaging Het
Nox4 C A 7: 86,970,905 (GRCm39) R261S probably benign Het
Obscn T A 11: 59,015,416 (GRCm39) K1019* probably null Het
Or4a15 T A 2: 89,193,719 (GRCm39) N18I probably benign Het
Or4g7 T A 2: 111,309,282 (GRCm39) V51D probably benign Het
Or5p67 G A 7: 107,922,223 (GRCm39) S220F probably damaging Het
Or8k24 C T 2: 86,216,328 (GRCm39) V145I probably benign Het
Pcdha11 A T 18: 37,144,671 (GRCm39) N254I probably damaging Het
Pck2 T A 14: 55,779,913 (GRCm39) I54N probably benign Het
Pkd1l3 T A 8: 110,361,861 (GRCm39) W978R probably damaging Het
Plxna4 T C 6: 32,214,703 (GRCm39) T593A probably benign Het
Podn G A 4: 107,879,321 (GRCm39) R266W probably damaging Het
Ptpn22 A G 3: 103,792,854 (GRCm39) D335G probably benign Het
Pxn A G 5: 115,644,922 (GRCm39) D3G unknown Het
Rapgefl1 T G 11: 98,736,960 (GRCm39) V320G probably benign Het
Rel A G 11: 23,692,785 (GRCm39) I416T probably benign Het
Sema5b A G 16: 35,471,540 (GRCm39) N378D probably benign Het
Sh3bp4 C A 1: 89,073,368 (GRCm39) L739M probably damaging Het
Skint2 A T 4: 112,483,168 (GRCm39) D191V probably damaging Het
Slc3a1 T C 17: 85,371,190 (GRCm39) Y581H probably damaging Het
Smcr8 G T 11: 60,670,814 (GRCm39) C654F probably benign Het
Spta1 A C 1: 174,025,349 (GRCm39) Q738P probably damaging Het
Sptlc3 C A 2: 139,431,438 (GRCm39) A320D probably benign Het
Thnsl2 T A 6: 71,108,990 (GRCm39) K274* probably null Het
Tmed2 T A 5: 124,685,055 (GRCm39) I68K possibly damaging Het
Tmtc4 G A 14: 123,180,735 (GRCm39) A326V possibly damaging Het
Tnks2 T A 19: 36,849,064 (GRCm39) S179T possibly damaging Het
Trim34b G T 7: 103,978,918 (GRCm39) C55F probably damaging Het
Trpm4 T A 7: 44,954,444 (GRCm39) E1129V probably damaging Het
Tvp23b T C 11: 62,782,867 (GRCm39) S188P possibly damaging Het
Usp1 A G 4: 98,822,356 (GRCm39) T557A probably damaging Het
Vmn2r66 C T 7: 84,661,176 (GRCm39) C18Y possibly damaging Het
Vmn2r85 T A 10: 130,254,852 (GRCm39) T611S probably damaging Het
Vps13c T C 9: 67,862,289 (GRCm39) S2969P possibly damaging Het
Wdr74 T A 19: 8,713,554 (GRCm39) C62* probably null Het
Wfikkn1 A T 17: 26,097,020 (GRCm39) C435S probably damaging Het
Zbtb45 A T 7: 12,740,269 (GRCm39) F449I probably damaging Het
Other mutations in Agbl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01567:Agbl1 APN 7 76,071,628 (GRCm39) missense probably benign 0.01
IGL01650:Agbl1 APN 7 76,070,067 (GRCm39) missense probably damaging 1.00
IGL02244:Agbl1 APN 7 76,416,120 (GRCm39) missense probably damaging 1.00
IGL03088:Agbl1 APN 7 76,369,890 (GRCm39) missense probably benign 0.12
IGL03143:Agbl1 APN 7 76,069,793 (GRCm39) nonsense probably null
IGL03306:Agbl1 APN 7 76,239,252 (GRCm39) missense probably damaging 1.00
R0001:Agbl1 UTSW 7 76,069,611 (GRCm39) missense probably damaging 0.98
R0045:Agbl1 UTSW 7 76,348,588 (GRCm39) critical splice donor site probably null
R0045:Agbl1 UTSW 7 76,348,588 (GRCm39) critical splice donor site probably null
R0541:Agbl1 UTSW 7 76,058,993 (GRCm39) missense probably benign 0.22
R1889:Agbl1 UTSW 7 76,239,129 (GRCm39) missense probably damaging 1.00
R2089:Agbl1 UTSW 7 76,239,248 (GRCm39) missense probably damaging 0.98
R2091:Agbl1 UTSW 7 76,239,248 (GRCm39) missense probably damaging 0.98
R2091:Agbl1 UTSW 7 76,239,248 (GRCm39) missense probably damaging 0.98
R2127:Agbl1 UTSW 7 76,069,628 (GRCm39) missense possibly damaging 0.64
R2148:Agbl1 UTSW 7 76,064,465 (GRCm39) splice site probably null
R2229:Agbl1 UTSW 7 76,083,126 (GRCm39) missense probably benign 0.43
R2243:Agbl1 UTSW 7 76,068,470 (GRCm39) missense possibly damaging 0.93
R2255:Agbl1 UTSW 7 76,071,932 (GRCm39) missense probably damaging 1.00
R2411:Agbl1 UTSW 7 76,369,898 (GRCm39) missense probably damaging 1.00
R2426:Agbl1 UTSW 7 76,071,650 (GRCm39) missense probably damaging 1.00
R2508:Agbl1 UTSW 7 76,239,298 (GRCm39) critical splice donor site probably null
R2910:Agbl1 UTSW 7 76,069,586 (GRCm39) missense probably benign 0.13
R2919:Agbl1 UTSW 7 76,064,406 (GRCm39) missense probably damaging 1.00
R3056:Agbl1 UTSW 7 76,416,232 (GRCm39) missense possibly damaging 0.60
R3153:Agbl1 UTSW 7 76,369,944 (GRCm39) missense probably damaging 1.00
R3770:Agbl1 UTSW 7 76,075,677 (GRCm39) critical splice donor site probably null
R3825:Agbl1 UTSW 7 76,069,715 (GRCm39) missense probably damaging 0.99
R4632:Agbl1 UTSW 7 76,063,433 (GRCm39) missense probably benign 0.00
R4857:Agbl1 UTSW 7 76,069,583 (GRCm39) missense probably benign 0.03
R4943:Agbl1 UTSW 7 76,069,764 (GRCm39) missense probably benign 0.01
R5055:Agbl1 UTSW 7 76,063,325 (GRCm39) missense probably damaging 1.00
R5071:Agbl1 UTSW 7 76,071,665 (GRCm39) missense probably damaging 1.00
R5072:Agbl1 UTSW 7 76,071,665 (GRCm39) missense probably damaging 1.00
R5074:Agbl1 UTSW 7 76,071,665 (GRCm39) missense probably damaging 1.00
R5095:Agbl1 UTSW 7 76,369,881 (GRCm39) missense probably damaging 0.96
R5133:Agbl1 UTSW 7 76,071,904 (GRCm39) missense probably benign 0.21
R5576:Agbl1 UTSW 7 75,984,985 (GRCm39) missense probably benign 0.03
R5665:Agbl1 UTSW 7 76,239,251 (GRCm39) missense probably damaging 1.00
R5849:Agbl1 UTSW 7 75,974,846 (GRCm39) missense probably benign 0.35
R5924:Agbl1 UTSW 7 76,058,982 (GRCm39) missense probably benign 0.12
R6044:Agbl1 UTSW 7 75,967,868 (GRCm39) missense possibly damaging 0.56
R6117:Agbl1 UTSW 7 76,348,534 (GRCm39) missense probably damaging 1.00
R6144:Agbl1 UTSW 7 76,069,832 (GRCm39) missense probably benign 0.02
R6368:Agbl1 UTSW 7 76,069,578 (GRCm39) missense probably benign 0.25
R6806:Agbl1 UTSW 7 76,075,669 (GRCm39) missense probably damaging 1.00
R7455:Agbl1 UTSW 7 76,074,503 (GRCm39) missense unknown
R7459:Agbl1 UTSW 7 76,069,814 (GRCm39) missense not run
R7485:Agbl1 UTSW 7 76,239,241 (GRCm39) missense unknown
R7539:Agbl1 UTSW 7 76,075,677 (GRCm39) critical splice donor site probably null
R7561:Agbl1 UTSW 7 76,348,509 (GRCm39) missense unknown
R7630:Agbl1 UTSW 7 76,535,904 (GRCm39) missense unknown
R7655:Agbl1 UTSW 7 76,059,080 (GRCm39) missense
R7656:Agbl1 UTSW 7 76,059,080 (GRCm39) missense
R7658:Agbl1 UTSW 7 76,416,117 (GRCm39) missense unknown
R7681:Agbl1 UTSW 7 76,094,649 (GRCm39) missense unknown
R7694:Agbl1 UTSW 7 76,348,513 (GRCm39) missense unknown
R7773:Agbl1 UTSW 7 76,348,585 (GRCm39) missense unknown
R7981:Agbl1 UTSW 7 76,094,588 (GRCm39) missense unknown
R8208:Agbl1 UTSW 7 76,369,916 (GRCm39) missense unknown
R8317:Agbl1 UTSW 7 76,071,929 (GRCm39) missense unknown
R8406:Agbl1 UTSW 7 76,068,415 (GRCm39) missense
R8432:Agbl1 UTSW 7 76,774,434 (GRCm39) missense unknown
R8704:Agbl1 UTSW 7 76,239,302 (GRCm39) splice site probably benign
R8830:Agbl1 UTSW 7 75,985,059 (GRCm39) missense
R8985:Agbl1 UTSW 7 75,969,904 (GRCm39) missense
R9113:Agbl1 UTSW 7 76,239,225 (GRCm39) missense unknown
R9170:Agbl1 UTSW 7 75,985,069 (GRCm39) missense
R9229:Agbl1 UTSW 7 76,774,270 (GRCm39) missense unknown
R9255:Agbl1 UTSW 7 76,416,150 (GRCm39) missense unknown
R9391:Agbl1 UTSW 7 76,071,602 (GRCm39) missense unknown
R9646:Agbl1 UTSW 7 76,075,648 (GRCm39) missense unknown
Z1088:Agbl1 UTSW 7 76,069,652 (GRCm39) missense probably benign 0.00
Z1176:Agbl1 UTSW 7 76,068,433 (GRCm39) missense
Z1177:Agbl1 UTSW 7 76,369,954 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- GACAAAATGTGAGCCTTAACTCTTG -3'
(R):5'- TCAGGGGACTAATGCAAGTTC -3'

Sequencing Primer
(F):5'- CCTCATAAGGGCATCAGTGGTTAC -3'
(R):5'- GCAAACAAACAGGTTGTGG -3'
Posted On 2019-10-17