Incidental Mutation 'R2091:Agbl1'
ID |
231780 |
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 |
040096-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2091 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
75879635-76774446 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 76239248 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Methionine
at position 583
(V583M)
|
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: V583M
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000026854 Gene: ENSMUSG00000025754 AA Change: V583M
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: V583M
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000103066 Gene: ENSMUSG00000025754 AA Change: V583M
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: V835M
|
SMART Domains |
Protein: ENSMUSP00000119721 Gene: ENSMUSG00000025754 AA Change: V835M
Domain | Start | End | E-Value | Type |
low complexity region
|
254 |
270 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000166190
AA Change: V821M
PolyPhen 2
Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000128342 Gene: ENSMUSG00000025754 AA Change: V821M
Domain | Start | End | E-Value | Type |
low complexity region
|
286 |
302 |
N/A |
INTRINSIC |
Pfam:Peptidase_M14
|
737 |
871 |
7.4e-14 |
PFAM |
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
98% (50/51) |
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921504E06Rik |
G |
C |
2: 19,522,357 (GRCm39) |
N247K |
probably damaging |
Het |
4930402F06Rik |
T |
C |
2: 35,266,079 (GRCm39) |
K197R |
probably benign |
Het |
Adam9 |
A |
T |
8: 25,485,200 (GRCm39) |
|
probably benign |
Het |
Adgrl1 |
T |
C |
8: 84,661,093 (GRCm39) |
I862T |
probably damaging |
Het |
Angpt4 |
A |
T |
2: 151,778,703 (GRCm39) |
|
probably benign |
Het |
Apba2 |
T |
A |
7: 64,345,341 (GRCm39) |
V177D |
probably benign |
Het |
Atg14 |
A |
T |
14: 47,780,352 (GRCm39) |
I474N |
probably damaging |
Het |
Bicdl1 |
A |
G |
5: 115,862,638 (GRCm39) |
S206P |
probably damaging |
Het |
Bltp1 |
C |
T |
3: 37,042,405 (GRCm39) |
T2797I |
probably damaging |
Het |
Calhm3 |
T |
A |
19: 47,140,430 (GRCm39) |
D221V |
probably damaging |
Het |
Ccdc93 |
T |
A |
1: 121,411,071 (GRCm39) |
|
probably null |
Het |
Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
Dido1 |
A |
T |
2: 180,303,677 (GRCm39) |
V1409E |
probably benign |
Het |
Dsc2 |
G |
A |
18: 20,166,351 (GRCm39) |
T760I |
possibly damaging |
Het |
Etnk2 |
T |
G |
1: 133,304,791 (GRCm39) |
|
probably null |
Het |
Gbp7 |
A |
T |
3: 142,240,383 (GRCm39) |
I34F |
probably damaging |
Het |
Gbp7 |
A |
T |
3: 142,251,316 (GRCm39) |
|
probably benign |
Het |
Gpr37 |
A |
G |
6: 25,689,062 (GRCm39) |
S12P |
possibly damaging |
Het |
Grxcr1 |
T |
C |
5: 68,267,755 (GRCm39) |
I168T |
probably damaging |
Het |
Hat1 |
T |
C |
2: 71,264,378 (GRCm39) |
V272A |
probably benign |
Het |
Hook3 |
A |
T |
8: 26,549,422 (GRCm39) |
|
probably benign |
Het |
Igkv8-30 |
A |
C |
6: 70,094,070 (GRCm39) |
C114G |
probably damaging |
Het |
Lrrc4 |
T |
G |
6: 28,830,586 (GRCm39) |
D343A |
probably benign |
Het |
Mars1 |
A |
G |
10: 127,135,154 (GRCm39) |
S646P |
probably damaging |
Het |
Mterf1b |
A |
T |
5: 4,247,057 (GRCm39) |
T233S |
possibly damaging |
Het |
Myrf |
A |
T |
19: 10,201,964 (GRCm39) |
V171D |
possibly damaging |
Het |
Nbas |
G |
A |
12: 13,411,046 (GRCm39) |
D897N |
probably benign |
Het |
Nfx1 |
T |
C |
4: 40,977,004 (GRCm39) |
V226A |
probably benign |
Het |
Nrros |
C |
T |
16: 31,962,975 (GRCm39) |
W311* |
probably null |
Het |
Ntrk2 |
A |
G |
13: 59,007,115 (GRCm39) |
H239R |
possibly damaging |
Het |
Or10g9 |
T |
C |
9: 39,912,500 (GRCm39) |
T8A |
probably benign |
Het |
Pcdhb18 |
T |
C |
18: 37,623,653 (GRCm39) |
S328P |
probably damaging |
Het |
Pigm |
T |
C |
1: 172,205,100 (GRCm39) |
Y279H |
probably damaging |
Het |
Pik3cd |
A |
G |
4: 149,737,156 (GRCm39) |
L880P |
probably damaging |
Het |
Plaat3 |
A |
G |
19: 7,556,474 (GRCm39) |
I92V |
probably damaging |
Het |
Polh |
A |
T |
17: 46,492,380 (GRCm39) |
|
probably benign |
Het |
Prom1 |
T |
C |
5: 44,171,428 (GRCm39) |
|
probably benign |
Het |
Ptger4 |
T |
A |
15: 5,272,326 (GRCm39) |
I98F |
possibly damaging |
Het |
Rasl11a |
T |
A |
5: 146,783,927 (GRCm39) |
I124N |
probably damaging |
Het |
Rest |
A |
G |
5: 77,429,126 (GRCm39) |
K515R |
possibly damaging |
Het |
Ryr1 |
A |
G |
7: 28,785,474 (GRCm39) |
L1746P |
probably damaging |
Het |
Ryr2 |
G |
T |
13: 11,960,863 (GRCm39) |
T25K |
probably benign |
Het |
Serpina3g |
A |
T |
12: 104,205,417 (GRCm39) |
D52V |
probably damaging |
Het |
Skint6 |
T |
C |
4: 112,703,881 (GRCm39) |
N998S |
probably benign |
Het |
Sntg1 |
T |
A |
1: 8,665,763 (GRCm39) |
T184S |
probably benign |
Het |
Ssbp1 |
A |
G |
6: 40,453,433 (GRCm39) |
Y73C |
probably null |
Het |
Suclg1 |
A |
G |
6: 73,241,259 (GRCm39) |
K193R |
probably benign |
Het |
Tnrc18 |
A |
C |
5: 142,759,396 (GRCm39) |
S813R |
unknown |
Het |
Tnrc6a |
T |
C |
7: 122,771,343 (GRCm39) |
|
probably null |
Het |
Trap1 |
A |
C |
16: 3,863,903 (GRCm39) |
Y472* |
probably null |
Het |
Trpm8 |
T |
C |
1: 88,271,048 (GRCm39) |
I446T |
probably damaging |
Het |
Tti2 |
T |
C |
8: 31,644,294 (GRCm39) |
L297P |
probably damaging |
Het |
Umodl1 |
A |
G |
17: 31,190,893 (GRCm39) |
M247V |
probably benign |
Het |
Unc80 |
T |
A |
1: 66,710,874 (GRCm39) |
|
probably benign |
Het |
Zfp174 |
A |
G |
16: 3,672,506 (GRCm39) |
R352G |
possibly damaging |
Het |
Zfp955a |
T |
A |
17: 33,461,731 (GRCm39) |
K134* |
probably null |
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 |
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 |
|
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'- TTGCCCCAGAGACTGTTGATG -3'
(R):5'- TTGGTTCAGATAGATGGAGCC -3'
Sequencing Primer
(F):5'- CCCCAGAGACTGTTGATGGAAATG -3'
(R):5'- TGGAGCCCAAGGGAGATCC -3'
|
Posted On |
2014-09-18 |