Incidental Mutation 'R8406:Agbl1'
| ID |
652419 |
| 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 |
067765-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8406 (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 76068415 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 327
(E327G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119721
(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: E75G
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000026854
Gene: ENSMUSG00000025754
AA Change: E75G
| 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: E75G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000103066
Gene: ENSMUSG00000025754
AA Change: E75G
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000119721
Gene: ENSMUSG00000025754
AA Change: E327G
| 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 |
|
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
A |
G |
11: 109,977,343 (GRCm39) |
F139L |
probably damaging |
Het |
| Adgrg6 |
A |
T |
10: 14,343,082 (GRCm39) |
D288E |
probably benign |
Het |
| Aipl1 |
T |
A |
11: 71,922,332 (GRCm39) |
M126L |
possibly damaging |
Het |
| Alkal2 |
G |
T |
12: 30,934,850 (GRCm39) |
G23V |
probably damaging |
Het |
| Arl3 |
A |
T |
19: 46,530,823 (GRCm39) |
S157T |
probably benign |
Het |
| Armc3 |
A |
T |
2: 19,240,365 (GRCm39) |
I41F |
probably damaging |
Het |
| Atg9a |
A |
C |
1: 75,167,028 (GRCm39) |
Y8D |
probably damaging |
Het |
| Atp10b |
T |
G |
11: 43,093,984 (GRCm39) |
H509Q |
probably benign |
Het |
| Cabyr |
C |
A |
18: 12,883,804 (GRCm39) |
T97K |
probably benign |
Het |
| Ccdc91 |
T |
C |
6: 147,438,920 (GRCm39) |
F174S |
possibly damaging |
Het |
| Cep350 |
A |
T |
1: 155,798,164 (GRCm39) |
H1207Q |
probably benign |
Het |
| Clstn3 |
A |
T |
6: 124,439,136 (GRCm39) |
N40K |
probably damaging |
Het |
| Col4a4 |
G |
A |
1: 82,501,611 (GRCm39) |
P381S |
unknown |
Het |
| Cpne5 |
A |
T |
17: 29,428,455 (GRCm39) |
F116Y |
probably benign |
Het |
| Csf2rb2 |
T |
C |
15: 78,171,216 (GRCm39) |
T457A |
probably benign |
Het |
| Cyb5d2 |
T |
C |
11: 72,679,959 (GRCm39) |
E112G |
probably benign |
Het |
| Cyp2b13 |
T |
C |
7: 25,781,223 (GRCm39) |
F212L |
probably benign |
Het |
| Dlx6 |
T |
G |
6: 6,863,779 (GRCm39) |
S134A |
probably benign |
Het |
| Egln1 |
A |
G |
8: 125,638,489 (GRCm39) |
Y380H |
probably benign |
Het |
| Fbxl13 |
A |
T |
5: 21,728,652 (GRCm39) |
I479N |
probably damaging |
Het |
| Fhip1a |
G |
T |
3: 85,580,027 (GRCm39) |
P726Q |
probably benign |
Het |
| Fis1 |
A |
G |
5: 136,991,865 (GRCm39) |
K20E |
probably benign |
Het |
| Foxk1 |
G |
T |
5: 142,387,528 (GRCm39) |
V84L |
unknown |
Het |
| Gdf5 |
C |
A |
2: 155,784,272 (GRCm39) |
G227W |
probably damaging |
Het |
| Ghrh |
T |
A |
2: 157,175,656 (GRCm39) |
T13S |
probably benign |
Het |
| Gnb2 |
A |
G |
5: 137,526,865 (GRCm39) |
L308P |
probably damaging |
Het |
| Grik2 |
A |
T |
10: 49,148,863 (GRCm39) |
V574D |
probably damaging |
Het |
| Hydin |
A |
T |
8: 111,336,543 (GRCm39) |
I5107F |
possibly damaging |
Het |
| Kl |
A |
T |
5: 150,906,229 (GRCm39) |
Y533F |
probably benign |
Het |
| Man2b1 |
G |
T |
8: 85,822,907 (GRCm39) |
R816L |
probably damaging |
Het |
| Myo5c |
T |
C |
9: 75,182,823 (GRCm39) |
Y821H |
probably damaging |
Het |
| Myo7b |
A |
T |
18: 32,092,866 (GRCm39) |
C2076S |
probably damaging |
Het |
| Naip6 |
C |
T |
13: 100,436,784 (GRCm39) |
A580T |
possibly damaging |
Het |
| Nectin2 |
A |
T |
7: 19,472,275 (GRCm39) |
V38E |
probably damaging |
Het |
| Or13a24 |
A |
T |
7: 140,154,044 (GRCm39) |
|
probably benign |
Het |
| Osbpl9 |
T |
C |
4: 108,921,770 (GRCm39) |
Y536C |
possibly damaging |
Het |
| Pcdh18 |
T |
G |
3: 49,710,998 (GRCm39) |
I106L |
probably damaging |
Het |
| Pde4dip |
T |
C |
3: 97,606,428 (GRCm39) |
K2149E |
probably benign |
Het |
| Pds5a |
A |
T |
5: 65,803,681 (GRCm39) |
C588S |
probably benign |
Het |
| Phf8-ps |
C |
A |
17: 33,286,038 (GRCm39) |
A255S |
probably benign |
Het |
| Pop1 |
T |
C |
15: 34,529,316 (GRCm39) |
M812T |
probably benign |
Het |
| Pou2f3 |
T |
C |
9: 43,051,153 (GRCm39) |
T178A |
probably damaging |
Het |
| Rab44 |
C |
T |
17: 29,359,294 (GRCm39) |
A494V |
unknown |
Het |
| Ros1 |
G |
C |
10: 51,977,941 (GRCm39) |
T1456S |
possibly damaging |
Het |
| Rubcnl |
T |
G |
14: 75,289,425 (GRCm39) |
F644L |
probably damaging |
Het |
| Saraf |
C |
T |
8: 34,632,602 (GRCm39) |
P227L |
probably benign |
Het |
| Sh3glb1 |
T |
G |
3: 144,397,198 (GRCm39) |
E383D |
probably damaging |
Het |
| Sh3rf3 |
T |
C |
10: 58,919,407 (GRCm39) |
V508A |
probably damaging |
Het |
| Sirt6 |
A |
T |
10: 81,458,328 (GRCm39) |
H308Q |
probably benign |
Het |
| Slc29a1 |
T |
A |
17: 45,900,706 (GRCm39) |
I119F |
probably damaging |
Het |
| Smtnl1 |
C |
T |
2: 84,648,742 (GRCm39) |
E171K |
probably benign |
Het |
| Spg11 |
T |
A |
2: 121,923,923 (GRCm39) |
E799D |
probably damaging |
Het |
| Tecpr1 |
A |
T |
5: 144,137,658 (GRCm39) |
W894R |
probably damaging |
Het |
| Tiam2 |
A |
C |
17: 3,558,065 (GRCm39) |
I1230L |
possibly damaging |
Het |
| Tnfrsf8 |
A |
G |
4: 145,019,265 (GRCm39) |
L190P |
probably damaging |
Het |
| Trim35 |
C |
T |
14: 66,534,724 (GRCm39) |
T69M |
possibly damaging |
Het |
| Ttll7 |
T |
C |
3: 146,645,779 (GRCm39) |
Y546H |
probably benign |
Het |
| Ubash3b |
C |
T |
9: 40,940,971 (GRCm39) |
G389R |
probably damaging |
Het |
| Vma21-ps |
C |
T |
4: 52,497,034 (GRCm39) |
V71I |
probably damaging |
Het |
| Vmn1r43 |
T |
A |
6: 89,847,414 (GRCm39) |
H24L |
possibly damaging |
Het |
| Vps37c |
T |
A |
19: 10,687,719 (GRCm39) |
L60Q |
probably damaging |
Het |
| Ythdf2 |
A |
G |
4: 131,931,946 (GRCm39) |
W405R |
probably damaging |
Het |
| Zfp775 |
T |
C |
6: 48,597,637 (GRCm39) |
C504R |
probably damaging |
Het |
| Zfp82 |
A |
G |
7: 29,761,652 (GRCm39) |
|
probably null |
Het |
| Zpr1 |
T |
A |
9: 46,185,400 (GRCm39) |
I127N |
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 |
|
|
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'- CTGATGAGGGCTAATGAATATTGAC -3'
(R):5'- GGCTTCCCATGTTCTACAGAG -3'
Sequencing Primer
(F):5'- AGGGCTAATGAATATTGACATTGATG -3'
(R):5'- GTTCTACAGAGATCATGCCATGTG -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation