Incidental Mutation 'R8985:Agbl1'
| ID |
683962 |
| 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 |
068818-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8985 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
75879635-76774446 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 75969904 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 53
(S53R)
|
| 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: S53R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
254 |
270 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0852 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
100% (74/74) |
| 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 |
|---|
| Acad9 |
T |
A |
3: 36,141,860 (GRCm39) |
|
probably benign |
Het |
| Ahr |
T |
C |
12: 35,576,736 (GRCm39) |
K65R |
possibly damaging |
Het |
| AI429214 |
A |
T |
8: 37,460,820 (GRCm39) |
|
probably benign |
Het |
| Ankrd52 |
T |
C |
10: 128,222,978 (GRCm39) |
S643P |
probably damaging |
Het |
| Asz1 |
T |
C |
6: 18,051,336 (GRCm39) |
T448A |
probably benign |
Het |
| Atp10a |
A |
G |
7: 58,438,092 (GRCm39) |
I425V |
probably benign |
Het |
| Casd1 |
T |
A |
6: 4,624,399 (GRCm39) |
Y397* |
probably null |
Het |
| Ccdc162 |
A |
G |
10: 41,432,102 (GRCm39) |
I1797T |
probably damaging |
Het |
| Cdc20b |
A |
T |
13: 113,196,330 (GRCm39) |
R152* |
probably null |
Het |
| Cdc25b |
T |
C |
2: 131,035,180 (GRCm39) |
C313R |
probably damaging |
Het |
| Cfap73 |
T |
A |
5: 120,768,123 (GRCm39) |
T212S |
probably benign |
Het |
| Chd9 |
G |
T |
8: 91,721,101 (GRCm39) |
R963L |
unknown |
Het |
| Clip4 |
G |
T |
17: 72,113,527 (GRCm39) |
V226F |
probably damaging |
Het |
| Cmya5 |
A |
G |
13: 93,233,664 (GRCm39) |
S475P |
possibly damaging |
Het |
| Cntn5 |
A |
G |
9: 10,171,960 (GRCm39) |
Y75H |
possibly damaging |
Het |
| Crtc1 |
T |
G |
8: 70,855,092 (GRCm39) |
H176P |
probably damaging |
Het |
| Cspg5 |
T |
C |
9: 110,085,502 (GRCm39) |
W558R |
unknown |
Het |
| Cyp2c39 |
A |
G |
19: 39,552,419 (GRCm39) |
T371A |
probably benign |
Het |
| Dcaf8 |
G |
A |
1: 172,000,199 (GRCm39) |
R119H |
probably benign |
Het |
| Drosha |
G |
T |
15: 12,924,187 (GRCm39) |
A1190S |
possibly damaging |
Het |
| Dst |
T |
C |
1: 34,288,886 (GRCm39) |
V5655A |
probably benign |
Het |
| Etnk1 |
C |
G |
6: 143,140,953 (GRCm39) |
|
probably benign |
Het |
| Flnc |
T |
A |
6: 29,440,499 (GRCm39) |
V269D |
probably benign |
Het |
| Foxs1 |
T |
A |
2: 152,775,058 (GRCm39) |
|
probably benign |
Het |
| Ftsj3 |
T |
C |
11: 106,141,595 (GRCm39) |
Y551C |
possibly damaging |
Het |
| Fzd6 |
A |
T |
15: 38,895,019 (GRCm39) |
H395L |
probably damaging |
Het |
| Grm6 |
C |
T |
11: 50,746,537 (GRCm39) |
A289V |
possibly damaging |
Het |
| Hook1 |
A |
G |
4: 95,910,468 (GRCm39) |
D694G |
probably benign |
Het |
| Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
| Igha |
T |
C |
12: 113,222,611 (GRCm39) |
E270G |
|
Het |
| Itga2b |
C |
A |
11: 102,356,288 (GRCm39) |
|
probably benign |
Het |
| Jade1 |
A |
C |
3: 41,568,148 (GRCm39) |
S739R |
probably benign |
Het |
| Lpin3 |
T |
C |
2: 160,738,674 (GRCm39) |
S209P |
probably benign |
Het |
| Ly6i |
A |
C |
15: 74,851,806 (GRCm39) |
L121R |
probably damaging |
Het |
| Ms4a1 |
C |
T |
19: 11,232,055 (GRCm39) |
V107I |
probably benign |
Het |
| Mycbpap |
T |
A |
11: 94,404,722 (GRCm39) |
T74S |
probably benign |
Het |
| Nlrp14 |
A |
G |
7: 106,796,436 (GRCm39) |
N921D |
probably benign |
Het |
| Nmur1 |
C |
T |
1: 86,314,103 (GRCm39) |
E388K |
probably benign |
Het |
| Nol4 |
T |
C |
18: 23,085,294 (GRCm39) |
Y40C |
probably damaging |
Het |
| Or1e1c |
T |
C |
11: 73,266,252 (GRCm39) |
S229P |
possibly damaging |
Het |
| Or51k1 |
A |
T |
7: 103,661,367 (GRCm39) |
C181S |
probably damaging |
Het |
| Or8b51 |
A |
T |
9: 38,569,621 (GRCm39) |
Y22* |
probably null |
Het |
| Pawr |
G |
A |
10: 108,247,861 (GRCm39) |
V283M |
possibly damaging |
Het |
| Pde6b |
T |
C |
5: 108,578,503 (GRCm39) |
Y814H |
probably benign |
Het |
| Pds5b |
T |
A |
5: 150,724,239 (GRCm39) |
L1272H |
probably benign |
Het |
| Pkd1l2 |
T |
C |
8: 117,764,849 (GRCm39) |
T1350A |
probably benign |
Het |
| Plcz1 |
T |
A |
6: 139,961,903 (GRCm39) |
Q216L |
possibly damaging |
Het |
| Prodh |
A |
T |
16: 17,890,362 (GRCm39) |
C522S |
probably null |
Het |
| Rasef |
G |
T |
4: 73,708,960 (GRCm39) |
P91Q |
possibly damaging |
Het |
| Rgs14 |
G |
A |
13: 55,531,234 (GRCm39) |
|
probably benign |
Het |
| Rnase6 |
A |
T |
14: 51,367,632 (GRCm39) |
Y8F |
unknown |
Het |
| Rnf216 |
T |
A |
5: 143,076,180 (GRCm39) |
T235S |
probably benign |
Het |
| Slco2a1 |
G |
A |
9: 102,949,834 (GRCm39) |
|
probably null |
Het |
| Smoc1 |
A |
G |
12: 81,226,261 (GRCm39) |
E362G |
probably damaging |
Het |
| Sncaip |
T |
C |
18: 53,002,169 (GRCm39) |
L230P |
probably benign |
Het |
| Tdrd3 |
A |
G |
14: 87,743,597 (GRCm39) |
E515G |
possibly damaging |
Het |
| Tipin |
T |
A |
9: 64,195,385 (GRCm39) |
|
probably null |
Het |
| Tmem9 |
T |
A |
1: 135,955,145 (GRCm39) |
V93D |
possibly damaging |
Het |
| Tpm3-rs7 |
A |
C |
14: 113,552,756 (GRCm39) |
I217L |
probably benign |
Het |
| Ttc41 |
A |
T |
10: 86,566,956 (GRCm39) |
I541F |
possibly damaging |
Het |
| Uck2 |
T |
C |
1: 167,070,681 (GRCm39) |
D16G |
probably benign |
Het |
| Vmn1r50 |
A |
G |
6: 90,085,017 (GRCm39) |
D254G |
probably benign |
Het |
| Vmn2r50 |
A |
C |
7: 9,779,974 (GRCm39) |
F469C |
probably damaging |
Het |
| Vmn2r57 |
A |
G |
7: 41,049,259 (GRCm39) |
V830A |
probably benign |
Het |
| Wwc2 |
T |
A |
8: 48,331,919 (GRCm39) |
R299S |
probably benign |
Het |
| Xdh |
C |
T |
17: 74,228,346 (GRCm39) |
G352R |
probably damaging |
Het |
| Xkr9 |
A |
T |
1: 13,770,990 (GRCm39) |
M169L |
probably benign |
Het |
| Zbtb10 |
A |
G |
3: 9,345,807 (GRCm39) |
D767G |
probably damaging |
Het |
| Zfp106 |
T |
C |
2: 120,366,077 (GRCm39) |
Y65C |
|
Het |
| Zfp536 |
A |
G |
7: 37,268,228 (GRCm39) |
L396P |
probably damaging |
Het |
| Znhit1 |
C |
A |
5: 137,011,408 (GRCm39) |
C135F |
probably damaging |
Het |
| Zscan5b |
A |
G |
7: 6,241,834 (GRCm39) |
E351G |
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 |
|
|
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 |
|
|
|
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'- AAAACCTGCGAGCTTGTGTTTC -3'
(R):5'- GCTAGGCCTGTTATCACCAG -3'
Sequencing Primer
(F):5'- TGTTTCTATGGTGAAATGAATGAACC -3'
(R):5'- CCTGTTATCACCAGGGCAC -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation