Incidental Mutation 'R7539:Agbl1'
| ID |
583781 |
| 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 |
045611-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7539 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
75879635-76774446 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 76075677 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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 null
Transcript: ENSMUST00000026854
|
| SMART Domains |
Protein: ENSMUSP00000026854
Gene: ENSMUSG00000025754
| 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 null
Transcript: ENSMUST00000107442
|
| SMART Domains |
Protein: ENSMUSP00000103066
Gene: ENSMUSG00000025754
| 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 null
Transcript: ENSMUST00000156166
|
| SMART Domains |
Protein: ENSMUSP00000119721
Gene: ENSMUSG00000025754
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
254 |
270 |
N/A |
INTRINSIC |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000128342
Gene: ENSMUSG00000025754
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
286 |
302 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_M14
|
737 |
871 |
7.4e-14 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (63/63) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930516K23Rik |
T |
C |
7: 103,708,470 (GRCm39) |
E113G |
probably damaging |
Het |
| Abcf3 |
T |
C |
16: 20,371,382 (GRCm39) |
|
probably null |
Het |
| Ap5m1 |
C |
A |
14: 49,311,014 (GRCm39) |
P28Q |
probably damaging |
Het |
| Bet1l |
T |
C |
7: 140,434,457 (GRCm39) |
D83G |
probably benign |
Het |
| Birc6 |
T |
C |
17: 74,956,691 (GRCm39) |
S3571P |
probably damaging |
Het |
| Bod1l |
A |
T |
5: 41,975,203 (GRCm39) |
M2037K |
possibly damaging |
Het |
| Ccdc80 |
A |
T |
16: 44,915,445 (GRCm39) |
E67V |
probably benign |
Het |
| Cep112 |
A |
G |
11: 108,746,654 (GRCm39) |
M133V |
probably benign |
Het |
| Ckmt2 |
C |
A |
13: 92,008,063 (GRCm39) |
D224Y |
probably damaging |
Het |
| Cplane1 |
A |
G |
15: 8,230,728 (GRCm39) |
I1002V |
probably benign |
Het |
| Crb1 |
T |
G |
1: 139,175,967 (GRCm39) |
K672T |
probably damaging |
Het |
| Dnhd1 |
T |
C |
7: 105,370,119 (GRCm39) |
S4515P |
probably damaging |
Het |
| Dock9 |
A |
G |
14: 121,818,848 (GRCm39) |
S1545P |
probably damaging |
Het |
| Dop1a |
T |
G |
9: 86,403,626 (GRCm39) |
S145A |
probably benign |
Het |
| Eps8l1 |
T |
C |
7: 4,473,036 (GRCm39) |
S92P |
probably damaging |
Het |
| Faap100 |
T |
C |
11: 120,268,464 (GRCm39) |
D103G |
possibly damaging |
Het |
| Fech |
T |
A |
18: 64,616,565 (GRCm39) |
|
probably null |
Het |
| Folh1 |
T |
A |
7: 86,375,117 (GRCm39) |
E623V |
probably benign |
Het |
| Galnt5 |
T |
C |
2: 57,925,242 (GRCm39) |
L841P |
probably damaging |
Het |
| Ggh |
C |
G |
4: 20,049,833 (GRCm39) |
S88C |
probably damaging |
Het |
| Gm10577 |
C |
T |
4: 100,877,893 (GRCm39) |
V1I |
unknown |
Het |
| Grip1 |
T |
A |
10: 119,890,776 (GRCm39) |
H938Q |
probably benign |
Het |
| Gucy2g |
G |
A |
19: 55,191,586 (GRCm39) |
A955V |
probably damaging |
Het |
| Hpd |
G |
C |
5: 123,316,255 (GRCm39) |
Y165* |
probably null |
Het |
| Iqsec1 |
C |
A |
6: 90,639,873 (GRCm39) |
R955L |
probably benign |
Het |
| Masp1 |
A |
T |
16: 23,289,128 (GRCm39) |
H557Q |
possibly damaging |
Het |
| Muc4 |
C |
T |
16: 32,576,770 (GRCm39) |
T20M |
|
Het |
| Myo16 |
T |
C |
8: 10,411,095 (GRCm39) |
|
probably null |
Het |
| Nfkb2 |
T |
C |
19: 46,296,662 (GRCm39) |
F273L |
possibly damaging |
Het |
| Nherf2 |
G |
T |
17: 24,860,873 (GRCm39) |
A223D |
probably damaging |
Het |
| Or11l3 |
A |
T |
11: 58,516,782 (GRCm39) |
I29N |
probably damaging |
Het |
| Or1l8 |
T |
C |
2: 36,817,221 (GRCm39) |
R302G |
probably benign |
Het |
| Or2a56 |
T |
C |
6: 42,933,037 (GRCm39) |
C202R |
possibly damaging |
Het |
| Or4k49 |
T |
C |
2: 111,494,778 (GRCm39) |
V69A |
possibly damaging |
Het |
| Or52ab7 |
A |
G |
7: 102,977,701 (GRCm39) |
S3G |
probably benign |
Het |
| Or52e3 |
T |
C |
7: 102,869,273 (GRCm39) |
V116A |
possibly damaging |
Het |
| Or5b124 |
C |
T |
19: 13,610,933 (GRCm39) |
Q153* |
probably null |
Het |
| Or6c2 |
A |
T |
10: 129,362,974 (GRCm39) |
K293* |
probably null |
Het |
| Or6c69 |
T |
C |
10: 129,747,932 (GRCm39) |
T72A |
probably damaging |
Het |
| Or7e174 |
A |
T |
9: 20,012,915 (GRCm39) |
M287L |
probably benign |
Het |
| Parp4 |
T |
A |
14: 56,873,212 (GRCm39) |
I1152N |
probably damaging |
Het |
| Peg3 |
T |
C |
7: 6,711,167 (GRCm39) |
T1352A |
probably benign |
Het |
| Pik3c2a |
T |
C |
7: 115,939,331 (GRCm39) |
N1669S |
probably damaging |
Het |
| Pinx1 |
A |
T |
14: 64,156,655 (GRCm39) |
Q194L |
probably benign |
Het |
| Podxl2 |
A |
C |
6: 88,826,311 (GRCm39) |
S268A |
probably benign |
Het |
| Polr2c |
C |
A |
8: 95,597,407 (GRCm39) |
H363N |
unknown |
Het |
| Prlr |
C |
T |
15: 10,329,109 (GRCm39) |
T528I |
probably benign |
Het |
| Rab37 |
A |
C |
11: 115,051,487 (GRCm39) |
Q198P |
probably benign |
Het |
| Rrm2b |
T |
A |
15: 37,937,595 (GRCm39) |
|
probably null |
Het |
| Serpina3b |
T |
C |
12: 104,096,970 (GRCm39) |
S84P |
possibly damaging |
Het |
| Stat4 |
A |
T |
1: 52,110,868 (GRCm39) |
|
probably null |
Het |
| Them6 |
T |
C |
15: 74,595,349 (GRCm39) |
I185T |
probably damaging |
Het |
| Tmco4 |
T |
A |
4: 138,749,010 (GRCm39) |
M316K |
probably benign |
Het |
| Tmtc4 |
G |
T |
14: 123,215,701 (GRCm39) |
|
probably null |
Het |
| Tnni3k |
A |
T |
3: 154,667,668 (GRCm39) |
N248K |
probably benign |
Het |
| Trim43a |
T |
A |
9: 88,465,096 (GRCm39) |
L141Q |
probably benign |
Het |
| Utp20 |
C |
T |
10: 88,627,607 (GRCm39) |
V953M |
probably damaging |
Het |
| Vmn2r118 |
T |
A |
17: 55,899,853 (GRCm39) |
T684S |
probably damaging |
Het |
| Wasl |
A |
T |
6: 24,619,197 (GRCm39) |
I441N |
unknown |
Het |
| Wfikkn2 |
T |
C |
11: 94,133,185 (GRCm39) |
D64G |
probably damaging |
Het |
| Zfp128 |
C |
A |
7: 12,624,479 (GRCm39) |
Y282* |
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 |
|
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 |
|
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'- CAAAATGTGAGCCTTAACTCTTGC -3'
(R):5'- TCAGGGGACTAATGCAAGTTC -3'
Sequencing Primer
(F):5'- CCTCATAAGGGCATCAGTGGTTAC -3'
(R):5'- GCAAACAAACAGGTTGTGG -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation