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)
|
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |