Incidental Mutation 'R8830:Agbl1'
ID |
673746 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Agbl1
|
Ensembl Gene |
ENSMUSG00000025754 |
Gene Name |
ATP/GTP binding protein-like 1 |
Synonyms |
Nna1-l1, Ccp4, EG244071 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8830 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
75879635-76774446 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 75985059 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 159
(T159A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000119721
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000156166]
|
AlphaFold |
no structure available at present |
Predicted Effect |
|
SMART Domains |
Protein: ENSMUSP00000119721 Gene: ENSMUSG00000025754 AA Change: T159A
Domain | Start | End | E-Value | Type |
low complexity region
|
254 |
270 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
Validation Efficiency |
100% (68/68) |
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: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl2fm2 |
A |
T |
3: 59,654,744 (GRCm39) |
T193S |
probably benign |
Het |
Abca7 |
T |
A |
10: 79,844,805 (GRCm39) |
V1509E |
probably damaging |
Het |
Abraxas2 |
A |
G |
7: 132,485,085 (GRCm39) |
D376G |
probably damaging |
Het |
Ahnak2 |
G |
A |
12: 112,750,656 (GRCm39) |
R89W |
|
Het |
Ajm1 |
T |
G |
2: 25,467,262 (GRCm39) |
D883A |
|
Het |
Arhgef40 |
A |
C |
14: 52,241,165 (GRCm39) |
D1396A |
probably damaging |
Het |
Atp13a5 |
A |
T |
16: 29,066,928 (GRCm39) |
F1060I |
probably damaging |
Het |
Atp6v1c1 |
T |
A |
15: 38,677,789 (GRCm39) |
F105I |
probably damaging |
Het |
Atp9b |
C |
T |
18: 80,809,015 (GRCm39) |
E635K |
|
Het |
Brix1 |
T |
A |
15: 10,479,682 (GRCm39) |
Q124L |
possibly damaging |
Het |
Cep68 |
A |
G |
11: 20,180,418 (GRCm39) |
|
probably benign |
Het |
Cfap46 |
A |
G |
7: 139,195,565 (GRCm39) |
S2208P |
unknown |
Het |
Crisp1 |
T |
A |
17: 40,605,310 (GRCm39) |
K234* |
probably null |
Het |
Cryzl1 |
C |
T |
16: 91,509,092 (GRCm39) |
V70I |
probably benign |
Het |
Cybc1 |
C |
T |
11: 121,119,549 (GRCm39) |
|
probably benign |
Het |
Dnah7b |
T |
C |
1: 46,230,953 (GRCm39) |
Y1404H |
probably damaging |
Het |
Dot1l |
A |
G |
10: 80,607,033 (GRCm39) |
H109R |
possibly damaging |
Het |
E330034G19Rik |
A |
C |
14: 24,359,576 (GRCm39) |
H329P |
unknown |
Het |
Erbb4 |
A |
T |
1: 68,114,627 (GRCm39) |
L939Q |
probably damaging |
Het |
Fst |
A |
T |
13: 114,592,364 (GRCm39) |
C118S |
probably damaging |
Het |
Gfra3 |
A |
G |
18: 34,844,189 (GRCm39) |
V117A |
possibly damaging |
Het |
Gldc |
C |
G |
19: 30,078,212 (GRCm39) |
M928I |
probably benign |
Het |
Greb1 |
A |
G |
12: 16,738,520 (GRCm39) |
M1481T |
probably benign |
Het |
Hecw2 |
G |
A |
1: 53,930,305 (GRCm39) |
R1045C |
probably damaging |
Het |
Hexb |
C |
T |
13: 97,330,762 (GRCm39) |
V84I |
probably benign |
Het |
Hpse |
T |
C |
5: 100,843,452 (GRCm39) |
E240G |
probably benign |
Het |
Hspa12a |
T |
C |
19: 58,793,895 (GRCm39) |
D322G |
possibly damaging |
Het |
Hspa9 |
A |
T |
18: 35,081,157 (GRCm39) |
|
probably null |
Het |
Kif9 |
A |
G |
9: 110,353,998 (GRCm39) |
K790R |
probably damaging |
Het |
Klc2 |
C |
T |
19: 5,160,394 (GRCm39) |
|
probably null |
Het |
Ldha |
C |
G |
7: 46,499,702 (GRCm39) |
N144K |
probably benign |
Het |
Mical2 |
A |
G |
7: 111,980,403 (GRCm39) |
T126A |
probably benign |
Het |
Mrpl15 |
A |
T |
1: 4,852,807 (GRCm39) |
V137D |
probably damaging |
Het |
Muc16 |
G |
A |
9: 18,557,365 (GRCm39) |
T2976I |
unknown |
Het |
Mybpc2 |
A |
T |
7: 44,161,965 (GRCm39) |
V495D |
probably damaging |
Het |
Or10a5 |
A |
G |
7: 106,635,889 (GRCm39) |
N176D |
probably benign |
Het |
Or52ab2 |
A |
G |
7: 102,970,212 (GRCm39) |
K198R |
|
Het |
Or6c203 |
A |
T |
10: 129,010,715 (GRCm39) |
Y58* |
probably null |
Het |
Pcnt |
G |
A |
10: 76,218,008 (GRCm39) |
T2089I |
probably benign |
Het |
Pdzd7 |
T |
C |
19: 45,021,512 (GRCm39) |
D563G |
probably damaging |
Het |
Phlpp1 |
T |
G |
1: 106,278,333 (GRCm39) |
L915R |
probably damaging |
Het |
Plekhh2 |
T |
A |
17: 84,829,231 (GRCm39) |
I34N |
probably damaging |
Het |
Pou6f2 |
T |
A |
13: 18,553,083 (GRCm39) |
T84S |
|
Het |
Prxl2c |
G |
A |
13: 64,445,114 (GRCm39) |
Q170* |
probably null |
Het |
Ptprq |
A |
G |
10: 107,422,556 (GRCm39) |
V1612A |
possibly damaging |
Het |
Pvrig-ps |
T |
G |
5: 138,340,410 (GRCm39) |
|
probably benign |
Het |
Rasl10b |
A |
T |
11: 83,303,502 (GRCm39) |
I20F |
probably damaging |
Het |
Rimbp3 |
T |
A |
16: 17,026,870 (GRCm39) |
V98E |
probably damaging |
Het |
Rims2 |
T |
C |
15: 39,300,758 (GRCm39) |
I355T |
possibly damaging |
Het |
Slc1a2 |
A |
G |
2: 102,566,360 (GRCm39) |
H30R |
probably benign |
Het |
Slc28a1 |
G |
A |
7: 80,810,794 (GRCm39) |
V389M |
possibly damaging |
Het |
Slc7a13 |
T |
C |
4: 19,819,189 (GRCm39) |
S130P |
probably benign |
Het |
Sp140 |
TTTTTTTT |
TTTTTTTTTTTTT |
1: 85,572,295 (GRCm39) |
|
probably benign |
Het |
Spag17 |
T |
A |
3: 100,032,751 (GRCm39) |
H2320Q |
possibly damaging |
Het |
Speer4a1 |
T |
C |
5: 26,241,793 (GRCm39) |
E111G |
possibly damaging |
Het |
Ss18l1 |
T |
C |
2: 179,709,131 (GRCm39) |
Y397H |
unknown |
Het |
Tbck |
T |
C |
3: 132,543,818 (GRCm39) |
S890P |
probably damaging |
Het |
Tcp11 |
T |
C |
17: 28,299,204 (GRCm39) |
E17G |
probably benign |
Het |
Tesk2 |
C |
T |
4: 116,659,484 (GRCm39) |
R315C |
probably benign |
Het |
Tln1 |
T |
C |
4: 43,556,383 (GRCm39) |
N45S |
probably benign |
Het |
Trim10 |
C |
T |
17: 37,180,846 (GRCm39) |
P26S |
probably damaging |
Het |
Vmac |
C |
A |
17: 57,022,573 (GRCm39) |
G146C |
probably damaging |
Het |
Vmn1r14 |
G |
A |
6: 57,211,017 (GRCm39) |
M198I |
probably damaging |
Het |
Vmn1r194 |
T |
C |
13: 22,429,006 (GRCm39) |
Y208H |
possibly damaging |
Het |
Vmn1r78 |
G |
A |
7: 11,887,118 (GRCm39) |
C243Y |
probably damaging |
Het |
Wasf3 |
C |
T |
5: 146,403,672 (GRCm39) |
Q261* |
probably null |
Het |
Ybx2 |
A |
G |
11: 69,827,063 (GRCm39) |
K88R |
probably benign |
Het |
Zfhx4 |
G |
A |
3: 5,463,949 (GRCm39) |
R1394H |
probably damaging |
Het |
Zfp871 |
T |
C |
17: 32,993,901 (GRCm39) |
T425A |
probably benign |
Het |
Zfy2 |
C |
T |
Y: 2,106,600 (GRCm39) |
S678N |
possibly damaging |
Het |
Zswim4 |
T |
C |
8: 84,949,945 (GRCm39) |
E650G |
possibly 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 |
|
R7516:Agbl1
|
UTSW |
7 |
76,075,669 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
|
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'- GCTACCCTACTCACTAGGCTG -3'
(R):5'- AACTTGGGGTTGGGTAGAGA -3'
Sequencing Primer
(F):5'- CCTACTCACTAGGCTGTTAAGAGAG -3'
(R):5'- AAGCAGATTGATATGGGATAGAGCC -3'
|
Posted On |
2021-07-15 |