Incidental Mutation 'R9170:Agbl1'
| ID |
696344 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9170 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
75879635-76774446 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 75985069 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 162
(I162T)
|
| 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: I162T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
254 |
270 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
98% (61/62) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam4 |
T |
C |
12: 81,466,516 (GRCm39) |
K702E |
probably benign |
Het |
| Agpat2 |
A |
T |
2: 26,487,230 (GRCm39) |
I101N |
possibly damaging |
Het |
| Amot |
A |
T |
X: 144,244,745 (GRCm39) |
L435H |
|
Het |
| Arhgap32 |
G |
A |
9: 32,162,039 (GRCm39) |
R330H |
possibly damaging |
Het |
| Asb4 |
T |
A |
6: 5,390,775 (GRCm39) |
I56N |
probably benign |
Het |
| Atp2a2 |
C |
T |
5: 122,604,087 (GRCm39) |
V449M |
possibly damaging |
Het |
| Bend4 |
A |
G |
5: 67,575,080 (GRCm39) |
L267P |
probably damaging |
Het |
| Catspere2 |
T |
A |
1: 177,967,949 (GRCm39) |
N745K |
probably benign |
Het |
| Celf2 |
A |
G |
2: 6,554,646 (GRCm39) |
F484L |
possibly damaging |
Het |
| Chd3 |
T |
C |
11: 69,241,648 (GRCm39) |
D1495G |
possibly damaging |
Het |
| Chrna3 |
A |
T |
9: 54,933,671 (GRCm39) |
V8D |
unknown |
Het |
| Cog3 |
T |
C |
14: 75,966,802 (GRCm39) |
Y466C |
probably damaging |
Het |
| Col5a1 |
A |
G |
2: 27,841,363 (GRCm39) |
E328G |
unknown |
Het |
| Col7a1 |
A |
G |
9: 108,785,707 (GRCm39) |
Y392C |
unknown |
Het |
| Crtc3 |
A |
T |
7: 80,248,697 (GRCm39) |
N255K |
probably damaging |
Het |
| Dnaaf1 |
T |
C |
8: 120,302,195 (GRCm39) |
I32T |
probably benign |
Het |
| Dner |
A |
T |
1: 84,512,647 (GRCm39) |
C307S |
probably damaging |
Het |
| Dzip3 |
T |
C |
16: 48,772,401 (GRCm39) |
K423E |
possibly damaging |
Het |
| Eif2b4 |
A |
G |
5: 31,345,393 (GRCm39) |
S414P |
probably damaging |
Het |
| Elp4 |
T |
C |
2: 105,624,891 (GRCm39) |
E334G |
probably damaging |
Het |
| Emilin2 |
T |
A |
17: 71,587,689 (GRCm39) |
N141I |
probably benign |
Het |
| Fstl1 |
T |
A |
16: 37,647,140 (GRCm39) |
V170E |
probably damaging |
Het |
| Fxn |
A |
G |
19: 24,244,687 (GRCm39) |
I151T |
probably damaging |
Het |
| Gtf3c4 |
A |
T |
2: 28,730,214 (GRCm39) |
V9E |
possibly damaging |
Het |
| Ino80d |
A |
G |
1: 63,132,607 (GRCm39) |
S19P |
probably damaging |
Het |
| Kank3 |
T |
G |
17: 34,037,242 (GRCm39) |
L370R |
probably damaging |
Het |
| Large1 |
T |
A |
8: 73,542,645 (GRCm39) |
Y693F |
probably benign |
Het |
| Lig4 |
C |
A |
8: 10,022,202 (GRCm39) |
W526L |
probably damaging |
Het |
| Mib1 |
C |
T |
18: 10,726,437 (GRCm39) |
P45S |
probably benign |
Het |
| Ndufaf6 |
T |
C |
4: 11,070,301 (GRCm39) |
K107E |
probably benign |
Het |
| Nf1 |
T |
C |
11: 79,436,291 (GRCm39) |
L1977P |
probably damaging |
Het |
| Nme4 |
G |
T |
17: 26,314,389 (GRCm39) |
A13E |
probably benign |
Het |
| Or52s6 |
G |
A |
7: 103,091,850 (GRCm39) |
P160L |
probably damaging |
Het |
| Or52z15 |
T |
A |
7: 103,332,404 (GRCm39) |
F160I |
probably benign |
Het |
| Pappa |
G |
A |
4: 65,258,962 (GRCm39) |
R1570Q |
probably damaging |
Het |
| Parp6 |
G |
A |
9: 59,531,213 (GRCm39) |
A32T |
|
Het |
| Pclo |
A |
G |
5: 14,731,068 (GRCm39) |
Q64R |
|
Het |
| Pde8a |
C |
T |
7: 80,982,619 (GRCm39) |
T746I |
probably damaging |
Het |
| Perm1 |
TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT |
TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT |
4: 156,302,525 (GRCm39) |
|
probably benign |
Het |
| Pramel21 |
T |
C |
4: 143,341,600 (GRCm39) |
S10P |
possibly damaging |
Het |
| Prdm13 |
C |
G |
4: 21,679,659 (GRCm39) |
R277P |
unknown |
Het |
| Prf1 |
A |
C |
10: 61,136,216 (GRCm39) |
D164A |
probably damaging |
Het |
| Rarres1 |
A |
G |
3: 67,386,924 (GRCm39) |
V226A |
probably damaging |
Het |
| Rest |
GGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGAGCCTGCCCCTCCCACGGGGC |
GGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGAGCCTGCCCCTCCCACGGGGC |
5: 77,429,651 (GRCm39) |
|
probably benign |
Het |
| Rnf123 |
A |
G |
9: 107,948,375 (GRCm39) |
L106P |
probably damaging |
Het |
| Scnn1b |
A |
T |
7: 121,511,326 (GRCm39) |
T338S |
probably benign |
Het |
| Sfi1 |
A |
ATCTTCCCAAAGCCAGTGC |
11: 3,103,384 (GRCm39) |
|
probably benign |
Het |
| Slc9a5 |
T |
C |
8: 106,080,139 (GRCm39) |
V94A |
probably damaging |
Het |
| Slco4a1 |
A |
G |
2: 180,106,478 (GRCm39) |
D220G |
probably benign |
Het |
| Spata31e2 |
T |
A |
1: 26,723,485 (GRCm39) |
Q565L |
possibly damaging |
Het |
| Sult1c2 |
T |
C |
17: 54,269,200 (GRCm39) |
D272G |
possibly damaging |
Het |
| Tgm1 |
T |
C |
14: 55,946,355 (GRCm39) |
N427S |
probably damaging |
Het |
| Themis |
C |
A |
10: 28,658,233 (GRCm39) |
T420N |
probably benign |
Het |
| Tnni3 |
A |
T |
7: 4,521,376 (GRCm39) |
F209L |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,745,912 (GRCm39) |
S5046C |
probably damaging |
Het |
| Tubb2a |
T |
A |
13: 34,260,628 (GRCm39) |
I24L |
probably benign |
Het |
| Uevld |
C |
A |
7: 46,587,746 (GRCm39) |
G318V |
probably damaging |
Het |
| Unkl |
T |
C |
17: 25,448,350 (GRCm39) |
S308P |
probably benign |
Het |
| Vmn1r159 |
C |
A |
7: 22,542,765 (GRCm39) |
C89F |
probably damaging |
Het |
| Wee2 |
T |
G |
6: 40,437,977 (GRCm39) |
S302A |
probably benign |
Het |
| Ydjc |
T |
C |
16: 16,965,666 (GRCm39) |
C144R |
probably benign |
Het |
| Zc3h12c |
A |
G |
9: 52,027,419 (GRCm39) |
S667P |
probably benign |
Het |
| Zfp280b |
T |
A |
10: 75,874,651 (GRCm39) |
Y177N |
probably benign |
Het |
| Zfp354b |
C |
T |
11: 50,814,362 (GRCm39) |
E188K |
probably benign |
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 |
|
|
|
R8985:Agbl1
|
UTSW |
7 |
75,969,904 (GRCm39) |
missense |
|
|
|
R9113:Agbl1
|
UTSW |
7 |
76,239,225 (GRCm39) |
missense |
unknown |
|
|
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'- ACCCTACTCACTAGGCTGTTA -3'
(R):5'- AACTTGGGGTTGGGTAGAGA -3'
Sequencing Primer
(F):5'- CCTACTCACTAGGCTGTTAAGAGAG -3'
(R):5'- AAGCAGATTGATATGGGATAGAGCC -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation