Incidental Mutation 'R6144:Agbl1'
| ID |
488739 |
| 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 |
044291-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6144 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
75879635-76774446 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 76069832 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 203
(T203A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026854
(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: T203A
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000026854
Gene: ENSMUSG00000025754
AA Change: T203A
| 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 benign
Transcript: ENSMUST00000107442
AA Change: T203A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000103066
Gene: ENSMUSG00000025754
AA Change: T203A
| 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: T455A
|
| SMART Domains |
Protein: ENSMUSP00000119721
Gene: ENSMUSG00000025754
AA Change: T455A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
254 |
270 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.6%
|
| Validation Efficiency |
96% (65/68) |
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3300002I08Rik |
A |
T |
2: 150,186,564 (GRCm39) |
D40E |
possibly damaging |
Het |
| 4921517D22Rik |
C |
T |
13: 59,837,347 (GRCm39) |
R246H |
probably damaging |
Het |
| Alms1 |
T |
A |
6: 85,600,056 (GRCm39) |
D2096E |
probably damaging |
Het |
| Ankrd53 |
T |
C |
6: 83,739,639 (GRCm39) |
|
probably benign |
Het |
| Arap3 |
C |
A |
18: 38,118,486 (GRCm39) |
G814C |
probably damaging |
Het |
| Armc9 |
T |
G |
1: 86,172,301 (GRCm39) |
I5S |
probably benign |
Het |
| Catsperg1 |
T |
C |
7: 28,910,120 (GRCm39) |
T74A |
probably damaging |
Het |
| Cdca7l |
T |
A |
12: 117,837,446 (GRCm39) |
|
probably null |
Het |
| Cfhr2 |
T |
A |
1: 139,733,153 (GRCm39) |
|
probably benign |
Het |
| Chpt1 |
A |
G |
10: 88,288,955 (GRCm39) |
|
probably benign |
Het |
| Cntrl |
A |
C |
2: 35,055,745 (GRCm39) |
D1213A |
possibly damaging |
Het |
| Col7a1 |
C |
T |
9: 108,803,148 (GRCm39) |
R2149C |
unknown |
Het |
| Cpa4 |
T |
C |
6: 30,585,082 (GRCm39) |
S289P |
probably damaging |
Het |
| Cpsf3 |
G |
A |
12: 21,356,887 (GRCm39) |
|
probably null |
Het |
| Creb3l1 |
T |
C |
2: 91,822,350 (GRCm39) |
H212R |
possibly damaging |
Het |
| Cybb |
C |
G |
X: 9,316,989 (GRCm39) |
D246H |
probably benign |
Het |
| Cyp2c29 |
A |
G |
19: 39,310,053 (GRCm39) |
D254G |
possibly damaging |
Het |
| Dennd1b |
A |
G |
1: 139,008,993 (GRCm39) |
H232R |
probably damaging |
Het |
| Dhx29 |
T |
C |
13: 113,101,105 (GRCm39) |
L1216P |
probably damaging |
Het |
| Dsg1b |
T |
C |
18: 20,529,476 (GRCm39) |
I307T |
possibly damaging |
Het |
| Ep300 |
A |
G |
15: 81,485,435 (GRCm39) |
S141G |
unknown |
Het |
| Evl |
A |
C |
12: 108,619,290 (GRCm39) |
K101T |
probably damaging |
Het |
| Exph5 |
G |
A |
9: 53,284,328 (GRCm39) |
G470R |
probably benign |
Het |
| Flg |
A |
T |
3: 93,190,515 (GRCm39) |
|
probably benign |
Het |
| Gm45704 |
T |
A |
8: 73,510,920 (GRCm39) |
|
|
Het |
| Grm1 |
T |
C |
10: 10,955,640 (GRCm39) |
M215V |
probably benign |
Het |
| Hadha |
T |
C |
5: 30,345,994 (GRCm39) |
D210G |
probably benign |
Het |
| Hmcn1 |
T |
C |
1: 150,598,175 (GRCm39) |
Y1709C |
probably damaging |
Het |
| Hrc |
A |
T |
7: 44,986,157 (GRCm39) |
H436L |
possibly damaging |
Het |
| Hycc1 |
T |
C |
5: 24,171,367 (GRCm39) |
S352G |
possibly damaging |
Het |
| Ido1 |
T |
A |
8: 25,075,306 (GRCm39) |
T259S |
possibly damaging |
Het |
| Itgb7 |
C |
A |
15: 102,131,917 (GRCm39) |
R222L |
probably benign |
Het |
| Khnyn |
T |
C |
14: 56,125,296 (GRCm39) |
V485A |
probably damaging |
Het |
| Kifc5b |
T |
C |
17: 27,140,826 (GRCm39) |
V100A |
probably benign |
Het |
| Lsm10 |
T |
C |
4: 125,991,794 (GRCm39) |
M50T |
probably damaging |
Het |
| Map3k6 |
T |
G |
4: 132,972,986 (GRCm39) |
W382G |
probably damaging |
Het |
| Mink1 |
T |
A |
11: 70,501,478 (GRCm39) |
F922I |
possibly damaging |
Het |
| Mrap2 |
T |
C |
9: 87,057,871 (GRCm39) |
V53A |
probably damaging |
Het |
| Mrps7 |
C |
A |
11: 115,495,000 (GRCm39) |
A5E |
probably benign |
Het |
| Muc4 |
A |
G |
16: 32,587,298 (GRCm39) |
N2713S |
possibly damaging |
Het |
| Nckipsd |
T |
C |
9: 108,689,585 (GRCm39) |
S249P |
probably damaging |
Het |
| Neil3 |
T |
C |
8: 54,052,447 (GRCm39) |
T384A |
probably benign |
Het |
| Noc3l |
A |
T |
19: 38,787,399 (GRCm39) |
I504K |
probably damaging |
Het |
| Nudt13 |
A |
G |
14: 20,357,839 (GRCm39) |
N107S |
probably benign |
Het |
| Or11h4b |
C |
A |
14: 50,918,392 (GRCm39) |
R233L |
probably benign |
Het |
| Or2n1 |
T |
A |
17: 38,486,116 (GRCm39) |
L47H |
probably damaging |
Het |
| Or5c1 |
T |
A |
2: 37,222,125 (GRCm39) |
M122K |
probably damaging |
Het |
| Otub1 |
G |
T |
19: 7,176,518 (GRCm39) |
Y205* |
probably null |
Het |
| Pals1 |
T |
C |
12: 78,871,563 (GRCm39) |
V381A |
possibly damaging |
Het |
| Pierce2 |
C |
A |
9: 72,887,270 (GRCm39) |
C79F |
probably damaging |
Het |
| Plpp7 |
T |
A |
2: 31,986,100 (GRCm39) |
S93T |
probably damaging |
Het |
| Pxk |
T |
G |
14: 8,138,011 (GRCm38) |
Y188D |
probably damaging |
Het |
| Rigi |
T |
C |
4: 40,229,551 (GRCm39) |
I78V |
probably benign |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Rpap1 |
A |
T |
2: 119,603,128 (GRCm39) |
C602* |
probably null |
Het |
| Sbds |
T |
C |
5: 130,275,185 (GRCm39) |
K248E |
probably benign |
Het |
| Serpina10 |
A |
T |
12: 103,595,092 (GRCm39) |
N42K |
probably benign |
Het |
| Slc7a8 |
A |
G |
14: 54,966,797 (GRCm39) |
L368P |
probably damaging |
Het |
| Srrm1 |
T |
C |
4: 135,065,184 (GRCm39) |
|
probably benign |
Het |
| Sun2 |
C |
T |
15: 79,614,533 (GRCm39) |
V288I |
probably benign |
Het |
| Tas2r107 |
C |
A |
6: 131,636,966 (GRCm39) |
A28S |
possibly damaging |
Het |
| Tbc1d9b |
T |
C |
11: 50,037,155 (GRCm39) |
I268T |
probably benign |
Het |
| Tjp2 |
A |
G |
19: 24,097,437 (GRCm39) |
F495L |
probably damaging |
Het |
| Top2b |
T |
C |
14: 16,423,740 (GRCm38) |
L1434P |
possibly damaging |
Het |
| Top3b |
A |
G |
16: 16,697,005 (GRCm39) |
|
probably null |
Het |
| Trdv2-2 |
A |
T |
14: 54,198,761 (GRCm39) |
E17V |
possibly damaging |
Het |
| Ttc6 |
T |
A |
12: 57,719,886 (GRCm39) |
L819Q |
possibly damaging |
Het |
| Txlnb |
A |
G |
10: 17,718,914 (GRCm39) |
T582A |
probably benign |
Het |
| Zfp788 |
T |
C |
7: 41,299,193 (GRCm39) |
S558P |
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 |
|
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'- CTGTTTTAACCGGGAGCACAG -3'
(R):5'- CTTGAATCCCACAGCAGATCTTG -3'
Sequencing Primer
(F):5'- GCACAGCTCCTGGAGACAAG -3'
(R):5'- ACAGCAGATCTTGTTCTCATAGC -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation