Incidental Mutation 'R7694:Agbl1'
| ID |
593546 |
| 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 |
045757-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7694 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
75879635-76774446 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 76348513 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Aspartic acid
at position 870
(A870D)
|
| 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 benign
Transcript: ENSMUST00000026854
AA Change: A618D
PolyPhen 2
Score 0.392 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000026854
Gene: ENSMUSG00000025754
AA Change: A618D
| 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 |
possibly damaging
Transcript: ENSMUST00000107442
AA Change: A618D
PolyPhen 2
Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000103066
Gene: ENSMUSG00000025754
AA Change: A618D
| 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: A870D
|
| SMART Domains |
Protein: ENSMUSP00000119721
Gene: ENSMUSG00000025754
AA Change: A870D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
254 |
270 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afdn |
T |
G |
17: 14,109,144 (GRCm39) |
S1571A |
probably damaging |
Het |
| Alpl |
C |
T |
4: 137,471,120 (GRCm39) |
G339R |
probably damaging |
Het |
| Ankrd55 |
T |
C |
13: 112,504,498 (GRCm39) |
Y415H |
probably damaging |
Het |
| Cd69 |
G |
A |
6: 129,247,008 (GRCm39) |
R111C |
possibly damaging |
Het |
| Cdh26 |
A |
T |
2: 178,101,896 (GRCm39) |
T172S |
probably damaging |
Het |
| Cflar |
T |
A |
1: 58,791,966 (GRCm39) |
V423E |
|
Het |
| Cgrrf1 |
A |
C |
14: 47,091,415 (GRCm39) |
Q313P |
possibly damaging |
Het |
| Chga |
G |
A |
12: 102,527,606 (GRCm39) |
A87T |
probably benign |
Het |
| Chrna4 |
T |
A |
2: 180,660,386 (GRCm39) |
D102V |
|
Het |
| Cpvl |
A |
T |
6: 53,909,502 (GRCm39) |
Y211* |
probably null |
Het |
| Cyp26a1 |
G |
A |
19: 37,689,512 (GRCm39) |
D403N |
possibly damaging |
Het |
| Dchs2 |
T |
C |
3: 83,036,789 (GRCm39) |
L512P |
probably damaging |
Het |
| Dll3 |
A |
C |
7: 28,001,170 (GRCm39) |
M1R |
probably null |
Het |
| Dnah12 |
A |
G |
14: 26,503,337 (GRCm39) |
T1564A |
probably damaging |
Het |
| Efhb |
A |
G |
17: 53,707,836 (GRCm39) |
S776P |
probably damaging |
Het |
| Eml5 |
T |
C |
12: 98,758,822 (GRCm39) |
S1831G |
probably damaging |
Het |
| Fat1 |
G |
T |
8: 45,441,967 (GRCm39) |
|
probably null |
Het |
| Fhad1 |
T |
C |
4: 141,632,375 (GRCm39) |
K1255E |
probably benign |
Het |
| Fitm2 |
C |
T |
2: 163,311,892 (GRCm39) |
C107Y |
probably damaging |
Het |
| Gdpd4 |
T |
C |
7: 97,621,146 (GRCm39) |
V153A |
probably benign |
Het |
| Ggnbp2 |
A |
G |
11: 84,751,539 (GRCm39) |
V87A |
possibly damaging |
Het |
| Glb1l |
G |
T |
1: 75,178,436 (GRCm39) |
A334E |
probably damaging |
Het |
| Gnas |
T |
G |
2: 174,142,005 (GRCm39) |
L784R |
probably damaging |
Het |
| Gtf2i |
C |
T |
5: 134,311,659 (GRCm39) |
E223K |
probably damaging |
Het |
| H2-M10.5 |
T |
C |
17: 37,084,641 (GRCm39) |
Y122H |
probably damaging |
Het |
| Hikeshi |
G |
A |
7: 89,579,554 (GRCm39) |
Q6* |
probably null |
Het |
| Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
| Irak2 |
A |
C |
6: 113,667,859 (GRCm39) |
D528A |
probably damaging |
Het |
| Lcn2 |
A |
G |
2: 32,278,042 (GRCm39) |
C17R |
unknown |
Het |
| Lcp2 |
G |
T |
11: 34,000,924 (GRCm39) |
V36L |
probably benign |
Het |
| Lin7c |
T |
C |
2: 109,726,617 (GRCm39) |
S89P |
probably benign |
Het |
| Lrrc37a |
C |
T |
11: 103,395,204 (GRCm39) |
A74T |
probably benign |
Het |
| Lrrtm3 |
T |
A |
10: 63,923,818 (GRCm39) |
M450L |
probably benign |
Het |
| Lsm11 |
C |
T |
11: 45,824,768 (GRCm39) |
R253Q |
probably benign |
Het |
| Map9 |
A |
T |
3: 82,266,290 (GRCm39) |
|
probably benign |
Het |
| Mmp2 |
T |
A |
8: 93,558,358 (GRCm39) |
D142E |
possibly damaging |
Het |
| Nrn1l |
A |
T |
8: 106,621,430 (GRCm39) |
T127S |
probably damaging |
Het |
| Or14c46 |
T |
C |
7: 85,918,983 (GRCm39) |
T5A |
probably damaging |
Het |
| Pelp1 |
G |
A |
11: 70,285,585 (GRCm39) |
T761I |
probably damaging |
Het |
| Pmm2 |
T |
A |
16: 8,463,254 (GRCm39) |
V63E |
probably damaging |
Het |
| Ptprb |
T |
A |
10: 116,208,853 (GRCm39) |
L1942H |
probably damaging |
Het |
| Ptprk |
T |
A |
10: 28,465,366 (GRCm39) |
C1350S |
possibly damaging |
Het |
| Rnf44 |
A |
G |
13: 54,829,841 (GRCm39) |
V381A |
probably damaging |
Het |
| Robo3 |
G |
A |
9: 37,329,816 (GRCm39) |
P1167S |
probably benign |
Het |
| Ryk |
A |
G |
9: 102,775,979 (GRCm39) |
E489G |
probably damaging |
Het |
| Satb2 |
T |
A |
1: 56,910,683 (GRCm39) |
I321L |
probably benign |
Het |
| Sh2b1 |
A |
T |
7: 126,066,929 (GRCm39) |
V655E |
probably benign |
Het |
| Slc16a12 |
G |
A |
19: 34,648,035 (GRCm39) |
T486M |
probably damaging |
Het |
| Slc34a1 |
G |
T |
13: 55,561,221 (GRCm39) |
R562L |
probably benign |
Het |
| Slc4a9 |
A |
G |
18: 36,669,902 (GRCm39) |
E779G |
probably damaging |
Het |
| Strc |
C |
A |
2: 121,207,577 (GRCm39) |
C598F |
probably damaging |
Het |
| Stxbp6 |
A |
T |
12: 44,948,810 (GRCm39) |
F100I |
probably damaging |
Het |
| Tap2 |
A |
G |
17: 34,424,671 (GRCm39) |
T135A |
probably benign |
Het |
| Tmcc1 |
G |
A |
6: 116,110,805 (GRCm39) |
P159S |
|
Het |
| Tmem106b |
T |
A |
6: 13,078,105 (GRCm39) |
M100K |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,578,039 (GRCm39) |
T24285S |
probably damaging |
Het |
| Vmn1r116 |
G |
A |
7: 20,606,337 (GRCm39) |
V53M |
possibly damaging |
Het |
| Zar1 |
A |
T |
5: 72,738,193 (GRCm39) |
S70T |
probably benign |
Het |
| Zfp235 |
C |
T |
7: 23,841,525 (GRCm39) |
T648M |
probably benign |
Het |
| Zfp937 |
C |
T |
2: 150,081,268 (GRCm39) |
H433Y |
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 |
|
|
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'- AGATCTGCAGCTTCCTGGAC -3'
(R):5'- AAAGTTTCCCACATATGTTTGTCCC -3'
Sequencing Primer
(F):5'- AGCTTCCTGGACATCTGGAG -3'
(R):5'- CCACATATGTTTGTCCCCTTTG -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation