Incidental Mutation 'R4943:Agbl1'
| ID |
383265 |
| 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 |
042540-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4943 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
75879635-76774446 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 76069764 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Lysine
at position 432
(R432K)
|
| 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: R180K
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000026854
Gene: ENSMUSG00000025754
AA Change: R180K
| 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: R180K
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000103066
Gene: ENSMUSG00000025754
AA Change: R180K
| 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 |
probably benign
Transcript: ENSMUST00000156166
AA Change: R432K
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000119721
Gene: ENSMUSG00000025754
AA Change: R432K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
254 |
270 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.5%
|
| Validation Efficiency |
99% (81/82) |
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
C |
A |
13: 77,393,446 (GRCm39) |
T366K |
possibly damaging |
Het |
| 2510039O18Rik |
T |
A |
4: 148,029,555 (GRCm39) |
H508Q |
probably damaging |
Het |
| Aadacl4fm5 |
T |
A |
4: 144,504,290 (GRCm39) |
E287V |
probably benign |
Het |
| Actl9 |
G |
A |
17: 33,652,059 (GRCm39) |
V40M |
possibly damaging |
Het |
| Aen |
T |
A |
7: 78,552,109 (GRCm39) |
V23E |
probably damaging |
Het |
| Akap13 |
T |
A |
7: 75,398,988 (GRCm39) |
F2689I |
probably benign |
Het |
| Arhgap45 |
A |
G |
10: 79,862,337 (GRCm39) |
S475G |
probably benign |
Het |
| Atg7 |
A |
C |
6: 114,674,045 (GRCm39) |
Q231P |
probably benign |
Het |
| Calr3 |
A |
T |
8: 73,185,221 (GRCm39) |
V226D |
probably benign |
Het |
| Cldn10 |
G |
A |
14: 119,025,725 (GRCm39) |
G53S |
possibly damaging |
Het |
| Cops4 |
A |
T |
5: 100,695,292 (GRCm39) |
M404L |
probably benign |
Het |
| Cpne4 |
A |
T |
9: 104,896,972 (GRCm39) |
H375L |
probably damaging |
Het |
| D16Ertd472e |
A |
T |
16: 78,372,877 (GRCm39) |
V20D |
probably damaging |
Het |
| Dcun1d5 |
T |
C |
9: 7,186,844 (GRCm39) |
F55L |
possibly damaging |
Het |
| Dhx8 |
T |
A |
11: 101,628,526 (GRCm39) |
L93* |
probably null |
Het |
| Dtx4 |
A |
G |
19: 12,478,424 (GRCm39) |
L53P |
probably damaging |
Het |
| Ern2 |
C |
T |
7: 121,772,481 (GRCm39) |
R659H |
possibly damaging |
Het |
| Etl4 |
G |
A |
2: 20,812,092 (GRCm39) |
A1392T |
probably benign |
Het |
| Fat2 |
T |
C |
11: 55,169,859 (GRCm39) |
R2967G |
probably benign |
Het |
| Fat4 |
A |
G |
3: 39,034,322 (GRCm39) |
D2658G |
probably benign |
Het |
| Ftsj3 |
A |
G |
11: 106,140,344 (GRCm39) |
V808A |
probably damaging |
Het |
| Gm10447 |
A |
T |
11: 53,347,216 (GRCm39) |
Y104* |
probably null |
Het |
| Gm27013 |
A |
T |
6: 130,653,163 (GRCm39) |
C766* |
probably null |
Het |
| Gm5581 |
A |
G |
6: 131,144,088 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr158 |
G |
A |
2: 21,831,968 (GRCm39) |
V1023I |
probably damaging |
Het |
| Hectd2 |
T |
G |
19: 36,581,647 (GRCm39) |
|
probably null |
Het |
| Hmcn2 |
T |
C |
2: 31,225,504 (GRCm39) |
Y138H |
probably damaging |
Het |
| Kif28 |
T |
C |
1: 179,541,516 (GRCm39) |
I369V |
probably benign |
Het |
| Kif4-ps |
C |
T |
12: 101,115,476 (GRCm39) |
|
noncoding transcript |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Map3k20 |
G |
A |
2: 72,202,262 (GRCm39) |
M164I |
possibly damaging |
Het |
| Map4k4 |
A |
G |
1: 40,058,754 (GRCm39) |
I1050V |
probably damaging |
Het |
| Med23 |
T |
A |
10: 24,751,567 (GRCm39) |
V133D |
possibly damaging |
Het |
| Mycn |
A |
T |
12: 12,987,080 (GRCm39) |
L439Q |
probably damaging |
Het |
| Myh2 |
G |
T |
11: 67,088,143 (GRCm39) |
A1920S |
probably damaging |
Het |
| Myom3 |
T |
C |
4: 135,541,585 (GRCm39) |
V1392A |
possibly damaging |
Het |
| Nktr |
T |
A |
9: 121,549,020 (GRCm39) |
|
probably benign |
Het |
| Nme3 |
A |
G |
17: 25,115,697 (GRCm39) |
K48E |
probably damaging |
Het |
| Nt5dc1 |
T |
C |
10: 34,186,387 (GRCm39) |
R58G |
probably damaging |
Het |
| Nup205 |
A |
G |
6: 35,201,574 (GRCm39) |
E1270G |
probably damaging |
Het |
| Or12d16-ps1 |
G |
T |
17: 37,705,916 (GRCm39) |
A162S |
probably benign |
Het |
| Or4e2 |
C |
G |
14: 52,688,051 (GRCm39) |
Y60* |
probably null |
Het |
| Or51l4 |
A |
T |
7: 103,404,503 (GRCm39) |
F96L |
probably benign |
Het |
| Or8c20 |
C |
T |
9: 38,260,924 (GRCm39) |
H176Y |
probably damaging |
Het |
| Pclo |
T |
C |
5: 14,762,651 (GRCm39) |
L3708P |
unknown |
Het |
| Pde4dip |
A |
T |
3: 97,662,827 (GRCm39) |
N590K |
probably damaging |
Het |
| Prokr1 |
A |
C |
6: 87,558,806 (GRCm39) |
I193S |
possibly damaging |
Het |
| Pxdc1 |
C |
A |
13: 34,822,989 (GRCm39) |
|
probably null |
Het |
| Rapgef2 |
A |
T |
3: 78,971,854 (GRCm39) |
S1494T |
probably benign |
Het |
| Rbms3 |
G |
C |
9: 116,507,573 (GRCm39) |
|
probably benign |
Het |
| Reep3 |
T |
A |
10: 66,932,042 (GRCm39) |
|
probably benign |
Het |
| Rwdd2b |
T |
C |
16: 87,231,422 (GRCm39) |
K244R |
possibly damaging |
Het |
| Srrm2 |
T |
C |
17: 24,041,389 (GRCm39) |
V2533A |
possibly damaging |
Het |
| Stab2 |
T |
C |
10: 86,790,026 (GRCm39) |
Y580C |
probably damaging |
Het |
| Stac2 |
G |
T |
11: 97,932,398 (GRCm39) |
S198R |
probably benign |
Het |
| Tdp2 |
T |
A |
13: 25,022,248 (GRCm39) |
N222K |
probably benign |
Het |
| Tex21 |
A |
G |
12: 76,268,474 (GRCm39) |
S103P |
probably damaging |
Het |
| Thbs1 |
A |
T |
2: 117,943,930 (GRCm39) |
I183F |
probably damaging |
Het |
| Tm9sf1 |
T |
C |
14: 55,878,625 (GRCm39) |
I256V |
probably damaging |
Het |
| Tmem207 |
C |
T |
16: 26,336,603 (GRCm39) |
W50* |
probably null |
Het |
| Trpm2 |
C |
A |
10: 77,801,841 (GRCm39) |
V75L |
probably damaging |
Het |
| Vmn1r227 |
A |
T |
17: 20,955,623 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r13 |
C |
A |
5: 109,322,915 (GRCm39) |
V125L |
probably benign |
Het |
| Vmn2r75 |
A |
T |
7: 85,814,705 (GRCm39) |
S263T |
probably damaging |
Het |
| Wdr64 |
G |
A |
1: 175,547,882 (GRCm39) |
V140I |
probably benign |
Het |
| Xpo4 |
T |
C |
14: 57,875,697 (GRCm39) |
I145M |
possibly damaging |
Het |
| Zan |
G |
A |
5: 137,456,152 (GRCm39) |
T1336I |
unknown |
Het |
| Zdbf2 |
G |
T |
1: 63,342,073 (GRCm39) |
V151F |
possibly damaging |
Het |
| Zfhx3 |
T |
C |
8: 109,674,949 (GRCm39) |
S2000P |
probably damaging |
Het |
| Zfp65 |
T |
A |
13: 67,859,099 (GRCm39) |
I12F |
probably damaging |
Het |
| Zfp703 |
C |
A |
8: 27,469,619 (GRCm39) |
Q428K |
probably benign |
Het |
| Zfp947 |
A |
C |
17: 22,364,813 (GRCm39) |
M287R |
probably benign |
Het |
| Zfp976 |
A |
T |
7: 42,261,846 (GRCm39) |
|
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 |
|
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 |
|
|
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'- TTTGAAGGAACTGGAACCCAAATG -3'
(R):5'- AGAAGTTTCTCTGCTGCTCCG -3'
Sequencing Primer
(F):5'- TTTGAACAACAAAGACACTCTGCATG -3'
(R):5'- CCGATGCTTTCTTCTGGCTTGG -3'
|
| Posted On |
2016-04-27 |
Incidental Mutation