Incidental Mutation 'R5665:Agbl1'
| ID |
444339 |
| 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 |
043308-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5665 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
75879635-76774446 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 76239251 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 584
(F584I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103066
(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: F584I
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000026854
Gene: ENSMUSG00000025754
AA Change: F584I
| 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: F584I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000103066
Gene: ENSMUSG00000025754
AA Change: F584I
| 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: F836I
|
| SMART Domains |
Protein: ENSMUSP00000119721
Gene: ENSMUSG00000025754
AA Change: F836I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
254 |
270 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.4%
|
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930505A04Rik |
C |
T |
11: 30,376,349 (GRCm39) |
V173M |
probably damaging |
Het |
| Acaca |
G |
T |
11: 84,136,120 (GRCm39) |
E492* |
probably null |
Het |
| Acp7 |
T |
A |
7: 28,315,968 (GRCm39) |
K206M |
probably benign |
Het |
| Ahi1 |
A |
G |
10: 20,930,946 (GRCm39) |
I929V |
possibly damaging |
Het |
| Ank3 |
G |
A |
10: 69,838,395 (GRCm39) |
R1566K |
possibly damaging |
Het |
| Arhgef40 |
A |
G |
14: 52,238,357 (GRCm39) |
I1279V |
possibly damaging |
Het |
| Arl14 |
A |
C |
3: 69,130,371 (GRCm39) |
T173P |
probably damaging |
Het |
| Asap1 |
A |
G |
15: 64,184,302 (GRCm39) |
S44P |
probably damaging |
Het |
| Btbd7 |
C |
A |
12: 102,751,456 (GRCm39) |
A1103S |
probably benign |
Het |
| Capn10 |
T |
A |
1: 92,865,653 (GRCm39) |
|
probably null |
Het |
| Capn7 |
T |
C |
14: 31,091,759 (GRCm39) |
F719L |
probably benign |
Het |
| Casp7 |
G |
A |
19: 56,429,414 (GRCm39) |
D267N |
probably benign |
Het |
| Ccdc13 |
C |
A |
9: 121,643,356 (GRCm39) |
K348N |
probably damaging |
Het |
| Chchd1 |
T |
C |
14: 20,753,178 (GRCm39) |
F13L |
probably benign |
Het |
| Clcn6 |
T |
A |
4: 148,099,018 (GRCm39) |
M442L |
possibly damaging |
Het |
| Col6a3 |
T |
C |
1: 90,755,602 (GRCm39) |
E229G |
probably benign |
Het |
| Cyb5r3 |
A |
G |
15: 83,038,755 (GRCm39) |
F278S |
probably damaging |
Het |
| Dhx16 |
C |
T |
17: 36,201,978 (GRCm39) |
Q1002* |
probably null |
Het |
| Dppa4 |
T |
C |
16: 48,111,378 (GRCm39) |
L121P |
probably benign |
Het |
| Dpyd |
A |
G |
3: 118,710,741 (GRCm39) |
E383G |
probably damaging |
Het |
| Eif4g3 |
A |
G |
4: 137,853,900 (GRCm39) |
T489A |
probably benign |
Het |
| Elovl1 |
G |
T |
4: 118,288,832 (GRCm39) |
V174L |
probably damaging |
Het |
| Elp3 |
T |
C |
14: 65,788,851 (GRCm39) |
K392E |
possibly damaging |
Het |
| Fancd2os |
C |
A |
6: 113,574,985 (GRCm39) |
W7L |
probably damaging |
Het |
| Fchsd2 |
A |
G |
7: 100,759,991 (GRCm39) |
T23A |
possibly damaging |
Het |
| Gabrp |
C |
G |
11: 33,504,308 (GRCm39) |
A336P |
possibly damaging |
Het |
| Gcm2 |
T |
A |
13: 41,263,387 (GRCm39) |
Y15F |
possibly damaging |
Het |
| Gpr132 |
G |
A |
12: 112,816,416 (GRCm39) |
R137C |
probably damaging |
Het |
| Herc1 |
A |
G |
9: 66,372,717 (GRCm39) |
E3091G |
probably damaging |
Het |
| Homer1 |
A |
T |
13: 93,492,610 (GRCm39) |
M184L |
probably benign |
Het |
| Izumo1r |
T |
C |
9: 14,812,145 (GRCm39) |
E117G |
probably damaging |
Het |
| Kcnt1 |
C |
T |
2: 25,791,921 (GRCm39) |
Q590* |
probably null |
Het |
| Lama1 |
G |
T |
17: 68,077,982 (GRCm39) |
C1139F |
probably damaging |
Het |
| Med29 |
C |
T |
7: 28,086,239 (GRCm39) |
A190T |
probably benign |
Het |
| Muc4 |
T |
C |
16: 32,569,600 (GRCm39) |
V220A |
probably benign |
Het |
| Mxra8 |
G |
T |
4: 155,927,378 (GRCm39) |
V388L |
probably benign |
Het |
| Myo5a |
T |
C |
9: 75,051,463 (GRCm39) |
|
probably null |
Het |
| Myrip |
A |
G |
9: 120,290,499 (GRCm39) |
Y706C |
probably damaging |
Het |
| Nphp4 |
T |
C |
4: 152,590,942 (GRCm39) |
V313A |
probably benign |
Het |
| Oga |
A |
C |
19: 45,765,436 (GRCm39) |
S124A |
probably benign |
Het |
| Olfm2 |
T |
G |
9: 20,579,840 (GRCm39) |
|
probably null |
Het |
| Or10ag52 |
T |
A |
2: 87,044,072 (GRCm39) |
S279T |
probably benign |
Het |
| Or10x4 |
T |
C |
1: 174,218,941 (GRCm39) |
F102S |
probably damaging |
Het |
| Pcdh15 |
C |
T |
10: 74,462,620 (GRCm39) |
P1398L |
probably damaging |
Het |
| Pdpr |
A |
G |
8: 111,841,443 (GRCm39) |
E225G |
possibly damaging |
Het |
| Pigs |
C |
A |
11: 78,219,595 (GRCm39) |
|
probably null |
Het |
| Pkhd1 |
T |
A |
1: 20,658,755 (GRCm39) |
T159S |
probably damaging |
Het |
| Plk4 |
A |
G |
3: 40,768,021 (GRCm39) |
T87A |
possibly damaging |
Het |
| Plxna4 |
T |
C |
6: 32,192,657 (GRCm39) |
Y768C |
probably damaging |
Het |
| Prl3d3 |
T |
A |
13: 27,343,064 (GRCm39) |
|
probably null |
Het |
| Pygb |
T |
C |
2: 150,662,808 (GRCm39) |
|
probably null |
Het |
| Rnf114 |
T |
C |
2: 167,352,854 (GRCm39) |
I118T |
possibly damaging |
Het |
| Sbno2 |
A |
G |
10: 79,894,287 (GRCm39) |
L1099P |
probably benign |
Het |
| Scaper |
T |
C |
9: 55,714,916 (GRCm39) |
K791E |
probably damaging |
Het |
| Serping1 |
T |
C |
2: 84,601,889 (GRCm39) |
T194A |
probably damaging |
Het |
| Slc12a9 |
A |
G |
5: 137,319,665 (GRCm39) |
S617P |
possibly damaging |
Het |
| Slk |
G |
A |
19: 47,624,896 (GRCm39) |
R1039H |
probably damaging |
Het |
| Sntb1 |
T |
A |
15: 55,655,535 (GRCm39) |
E227V |
probably benign |
Het |
| Sostdc1 |
C |
A |
12: 36,364,407 (GRCm39) |
P39T |
probably benign |
Het |
| Spred1 |
C |
T |
2: 116,983,486 (GRCm39) |
R16* |
probably null |
Het |
| Srpk2 |
A |
G |
5: 23,723,475 (GRCm39) |
I547T |
probably damaging |
Het |
| Stt3a |
A |
G |
9: 36,670,610 (GRCm39) |
Y54H |
probably damaging |
Het |
| Stt3b |
A |
T |
9: 115,095,215 (GRCm39) |
L272H |
probably damaging |
Het |
| Syne2 |
T |
A |
12: 76,154,991 (GRCm39) |
|
probably null |
Het |
| Uso1 |
A |
T |
5: 92,346,196 (GRCm39) |
E793V |
possibly damaging |
Het |
| Usp15 |
A |
T |
10: 122,966,892 (GRCm39) |
L476* |
probably null |
Het |
| Vmn1r189 |
T |
C |
13: 22,286,336 (GRCm39) |
Y167C |
probably damaging |
Het |
| Vmn2r24 |
A |
G |
6: 123,763,938 (GRCm39) |
T272A |
possibly damaging |
Het |
| Vps13a |
A |
T |
19: 16,646,054 (GRCm39) |
H1994Q |
probably damaging |
Het |
| Zbtb10 |
T |
C |
3: 9,330,252 (GRCm39) |
S537P |
probably damaging |
Het |
| Zbtb12 |
T |
C |
17: 35,114,859 (GRCm39) |
S215P |
possibly damaging |
Het |
| Zfp346 |
T |
C |
13: 55,260,915 (GRCm39) |
M81T |
probably benign |
Het |
| Zfp800 |
T |
C |
6: 28,244,512 (GRCm39) |
D151G |
probably null |
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 |
|
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'- TGCCCCAGAGACTGTTGATG -3'
(R):5'- ATTGGTTCAGATAGATGGAGCC -3'
Sequencing Primer
(F):5'- CCCCAGAGACTGTTGATGGAAATG -3'
(R):5'- TGGAGCCCAAGGGAGATCC -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation