Incidental Mutation 'R9072:Agbl3'
| ID |
689592 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Agbl3
|
| Ensembl Gene |
ENSMUSG00000038836 |
| Gene Name |
ATP/GTP binding protein-like 3 |
| Synonyms |
Ccp3, 2900053G10Rik, 6530406M24Rik, Ccp3, 4930431N21Rik |
| MMRRC Submission |
068894-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9072 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
34757367-34836394 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 34776387 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 298
(C298R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110668
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115016]
[ENSMUST00000115017]
[ENSMUST00000135304]
[ENSMUST00000148834]
|
| AlphaFold |
Q8CDP0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115016
AA Change: C298R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110668
Gene: ENSMUSG00000038836
AA Change: C298R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
25 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_M14
|
314 |
563 |
2.7e-19 |
PFAM |
|
low complexity region
|
614 |
629 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115017
AA Change: C293R
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000110669
Gene: ENSMUSG00000038836
AA Change: C293R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
25 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_M14
|
309 |
560 |
1e-33 |
PFAM |
|
low complexity region
|
609 |
624 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135304
|
| SMART Domains |
Protein: ENSMUSP00000118303
Gene: ENSMUSG00000038836
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
25 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148834
|
| SMART Domains |
Protein: ENSMUSP00000116066
Gene: ENSMUSG00000038836
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
25 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous mice for a targeted allele are viable and fertile. 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 |
|
| Other mutations in this stock |
Total: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aak1 |
T |
A |
6: 86,921,374 (GRCm39) |
Y190* |
probably null |
Het |
| Ankrd26 |
T |
A |
6: 118,500,350 (GRCm39) |
K1040N |
probably damaging |
Het |
| Ano3 |
T |
A |
2: 110,576,243 (GRCm39) |
T93S |
probably benign |
Het |
| Apoc3 |
T |
A |
9: 46,144,532 (GRCm39) |
I97F |
probably benign |
Het |
| Arid5a |
A |
G |
1: 36,358,626 (GRCm39) |
E401G |
probably benign |
Het |
| Atxn3 |
T |
C |
12: 101,903,730 (GRCm39) |
|
probably null |
Het |
| Brca1 |
C |
T |
11: 101,393,306 (GRCm39) |
|
probably null |
Het |
| C1ql3 |
T |
A |
2: 13,015,198 (GRCm39) |
N154I |
probably damaging |
Het |
| Ccdc110 |
A |
T |
8: 46,395,875 (GRCm39) |
M589L |
probably benign |
Het |
| Ccnb2 |
A |
T |
9: 70,318,095 (GRCm39) |
F226I |
possibly damaging |
Het |
| Commd8 |
TTGTCATCT |
TT |
5: 72,318,327 (GRCm39) |
|
probably null |
Het |
| Dis3 |
T |
C |
14: 99,332,647 (GRCm39) |
T262A |
probably benign |
Het |
| Eif4a2 |
G |
A |
16: 22,929,403 (GRCm39) |
R234Q |
probably benign |
Het |
| Ephx2 |
G |
A |
14: 66,323,688 (GRCm39) |
R481* |
probably null |
Het |
| Fbxo15 |
T |
C |
18: 84,983,645 (GRCm39) |
I331T |
possibly damaging |
Het |
| Gfra2 |
A |
G |
14: 71,138,935 (GRCm39) |
E121G |
possibly damaging |
Het |
| Git1 |
G |
A |
11: 77,389,901 (GRCm39) |
A55T |
probably benign |
Het |
| Hfm1 |
T |
C |
5: 107,046,146 (GRCm39) |
I553V |
probably benign |
Het |
| Hydin |
G |
A |
8: 110,994,083 (GRCm39) |
|
probably null |
Het |
| Iqgap3 |
A |
G |
3: 88,016,773 (GRCm39) |
N1085S |
|
Het |
| Kbtbd12 |
T |
C |
6: 88,595,422 (GRCm39) |
Y136C |
probably damaging |
Het |
| Kcng3 |
A |
G |
17: 83,938,423 (GRCm39) |
Y209H |
possibly damaging |
Het |
| Kcnj2 |
A |
T |
11: 110,962,664 (GRCm39) |
M19L |
possibly damaging |
Het |
| Lonrf2 |
A |
T |
1: 38,850,867 (GRCm39) |
F232I |
probably damaging |
Het |
| Lrrc31 |
T |
C |
3: 30,753,859 (GRCm39) |
D14G |
probably benign |
Het |
| Ly6l |
G |
A |
15: 75,321,585 (GRCm39) |
V62I |
possibly damaging |
Het |
| Marchf8 |
T |
C |
6: 116,378,884 (GRCm39) |
F273L |
probably benign |
Het |
| Masp1 |
A |
C |
16: 23,288,671 (GRCm39) |
S710A |
probably benign |
Het |
| Mcm10 |
G |
A |
2: 5,013,414 (GRCm39) |
R73C |
possibly damaging |
Het |
| Mcm5 |
G |
A |
8: 75,852,934 (GRCm39) |
R682H |
probably damaging |
Het |
| Mink1 |
C |
T |
11: 70,499,207 (GRCm39) |
T684I |
possibly damaging |
Het |
| Mocos |
A |
T |
18: 24,797,089 (GRCm39) |
Q83L |
probably damaging |
Het |
| Nags |
T |
C |
11: 102,038,347 (GRCm39) |
L351P |
probably damaging |
Het |
| Nalcn |
G |
A |
14: 123,532,863 (GRCm39) |
T1299I |
possibly damaging |
Het |
| Nlrp4b |
A |
G |
7: 10,459,870 (GRCm39) |
D824G |
probably benign |
Het |
| Nwd1 |
A |
T |
8: 73,422,046 (GRCm39) |
M1031L |
probably benign |
Het |
| Or11g27 |
C |
T |
14: 50,771,211 (GRCm39) |
T114I |
probably benign |
Het |
| Or4c101 |
A |
C |
2: 88,390,658 (GRCm39) |
I271L |
probably benign |
Het |
| Or4k40 |
A |
T |
2: 111,250,705 (GRCm39) |
I197N |
possibly damaging |
Het |
| Or56b1 |
C |
T |
7: 104,285,291 (GRCm39) |
R137C |
probably benign |
Het |
| Or5b112 |
A |
G |
19: 13,319,238 (GRCm39) |
T39A |
possibly damaging |
Het |
| Or5d37 |
T |
A |
2: 87,924,172 (GRCm39) |
Q36L |
probably benign |
Het |
| Pan2 |
T |
C |
10: 128,151,050 (GRCm39) |
M807T |
probably damaging |
Het |
| Parp8 |
A |
T |
13: 117,047,951 (GRCm39) |
I222N |
probably damaging |
Het |
| Pmm1 |
C |
T |
15: 81,839,896 (GRCm39) |
R143H |
probably damaging |
Het |
| Pou1f1 |
T |
C |
16: 65,328,833 (GRCm39) |
L186P |
|
Het |
| Ppargc1b |
G |
A |
18: 61,443,730 (GRCm39) |
R494W |
probably damaging |
Het |
| Prg4 |
G |
T |
1: 150,331,288 (GRCm39) |
P462T |
unknown |
Het |
| Ptcd1 |
T |
A |
5: 145,091,525 (GRCm39) |
I525L |
probably benign |
Het |
| Ptchd4 |
A |
T |
17: 42,813,650 (GRCm39) |
Y517F |
probably damaging |
Het |
| Pum1 |
T |
C |
4: 130,480,172 (GRCm39) |
F693S |
probably damaging |
Het |
| Ribc2 |
A |
C |
15: 85,022,163 (GRCm39) |
Q186P |
probably damaging |
Het |
| Sesn2 |
C |
A |
4: 132,224,195 (GRCm39) |
|
probably null |
Het |
| Sgf29 |
G |
A |
7: 126,271,826 (GRCm39) |
V284M |
probably damaging |
Het |
| Skap2 |
C |
T |
6: 51,856,750 (GRCm39) |
|
probably null |
Het |
| Smap1 |
T |
A |
1: 23,961,154 (GRCm39) |
E28V |
probably damaging |
Het |
| Smc3 |
A |
G |
19: 53,617,200 (GRCm39) |
N538D |
probably benign |
Het |
| Spen |
T |
C |
4: 141,203,702 (GRCm39) |
T1642A |
unknown |
Het |
| Spred3 |
G |
A |
7: 28,865,955 (GRCm39) |
R115* |
probably null |
Het |
| Sugt1 |
T |
A |
14: 79,866,293 (GRCm39) |
M304K |
possibly damaging |
Het |
| Sval1 |
T |
C |
6: 41,928,606 (GRCm39) |
I6T |
possibly damaging |
Het |
| Svil |
T |
C |
18: 5,097,500 (GRCm39) |
I1574T |
probably benign |
Het |
| Tinag |
T |
A |
9: 76,904,300 (GRCm39) |
|
probably null |
Het |
| Trak1 |
T |
C |
9: 121,289,554 (GRCm39) |
L622P |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,586,218 (GRCm39) |
D21838N |
probably damaging |
Het |
| Ttn |
ATATCTCTCCAGAGCCTCCCCTGGAGGAGTGGAGTATCTCTCCAGAGCCTCCCCTGGAGGAGTGGAGTATCTCTCCAGAGCCTCCCCTG |
ATATCTCTCCAGAGCCTCCCCTGGAGGAGTGGAGTATCTCTCCAGAGCCTCCCCTG |
2: 76,746,150 (GRCm39) |
|
probably benign |
Het |
| Vmn1r43 |
G |
A |
6: 89,846,877 (GRCm39) |
T203M |
probably damaging |
Het |
| Vmn1r73 |
C |
T |
7: 11,490,203 (GRCm39) |
A7V |
probably benign |
Het |
| Yy1 |
G |
T |
12: 108,759,921 (GRCm39) |
G195C |
probably benign |
Het |
| Zbtb17 |
T |
A |
4: 141,193,676 (GRCm39) |
C607S |
possibly damaging |
Het |
| Zfp735 |
T |
C |
11: 73,603,060 (GRCm39) |
V668A |
probably benign |
Het |
| Zfp819 |
C |
A |
7: 43,266,570 (GRCm39) |
T351K |
probably damaging |
Het |
| Zfp820 |
C |
A |
17: 22,039,031 (GRCm39) |
S99I |
possibly damaging |
Het |
|
| Other mutations in Agbl3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00336:Agbl3
|
APN |
6 |
34,823,771 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00835:Agbl3
|
APN |
6 |
34,776,667 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00840:Agbl3
|
APN |
6 |
34,776,094 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01090:Agbl3
|
APN |
6 |
34,776,822 (GRCm39) |
missense |
probably benign |
0.40 |
|
IGL01123:Agbl3
|
APN |
6 |
34,823,911 (GRCm39) |
nonsense |
probably null |
|
|
IGL01707:Agbl3
|
APN |
6 |
34,816,389 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL01728:Agbl3
|
APN |
6 |
34,759,092 (GRCm39) |
start codon destroyed |
probably null |
|
|
IGL02335:Agbl3
|
APN |
6 |
34,776,685 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02420:Agbl3
|
APN |
6 |
34,762,242 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
IGL02551:Agbl3
|
APN |
6 |
34,800,006 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL02974:Agbl3
|
APN |
6 |
34,776,757 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03167:Agbl3
|
APN |
6 |
34,834,594 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL03182:Agbl3
|
APN |
6 |
34,780,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0044:Agbl3
|
UTSW |
6 |
34,776,834 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0499:Agbl3
|
UTSW |
6 |
34,816,270 (GRCm39) |
missense |
probably benign |
|
|
R0639:Agbl3
|
UTSW |
6 |
34,776,640 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0850:Agbl3
|
UTSW |
6 |
34,776,139 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1004:Agbl3
|
UTSW |
6 |
34,780,386 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1080:Agbl3
|
UTSW |
6 |
34,805,170 (GRCm39) |
missense |
probably benign |
0.14 |
|
R1589:Agbl3
|
UTSW |
6 |
34,834,452 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R2361:Agbl3
|
UTSW |
6 |
34,809,440 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R2495:Agbl3
|
UTSW |
6 |
34,823,699 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3236:Agbl3
|
UTSW |
6 |
34,800,022 (GRCm39) |
splice site |
probably null |
|
|
R3237:Agbl3
|
UTSW |
6 |
34,800,022 (GRCm39) |
splice site |
probably null |
|
|
R3420:Agbl3
|
UTSW |
6 |
34,770,900 (GRCm39) |
missense |
probably benign |
0.36 |
|
R3421:Agbl3
|
UTSW |
6 |
34,770,900 (GRCm39) |
missense |
probably benign |
0.36 |
|
R3422:Agbl3
|
UTSW |
6 |
34,770,900 (GRCm39) |
missense |
probably benign |
0.36 |
|
R3810:Agbl3
|
UTSW |
6 |
34,776,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3811:Agbl3
|
UTSW |
6 |
34,776,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4059:Agbl3
|
UTSW |
6 |
34,823,834 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4499:Agbl3
|
UTSW |
6 |
34,834,533 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4687:Agbl3
|
UTSW |
6 |
34,775,261 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4854:Agbl3
|
UTSW |
6 |
34,762,219 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5354:Agbl3
|
UTSW |
6 |
34,791,687 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5386:Agbl3
|
UTSW |
6 |
34,776,131 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5897:Agbl3
|
UTSW |
6 |
34,780,508 (GRCm39) |
missense |
probably benign |
0.21 |
|
R6018:Agbl3
|
UTSW |
6 |
34,776,190 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6148:Agbl3
|
UTSW |
6 |
34,834,688 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R6305:Agbl3
|
UTSW |
6 |
34,759,145 (GRCm39) |
missense |
unknown |
|
|
R6525:Agbl3
|
UTSW |
6 |
34,780,529 (GRCm39) |
nonsense |
probably null |
|
|
R6546:Agbl3
|
UTSW |
6 |
34,776,234 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6743:Agbl3
|
UTSW |
6 |
34,823,888 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6986:Agbl3
|
UTSW |
6 |
34,816,387 (GRCm39) |
missense |
probably benign |
0.42 |
|
R7023:Agbl3
|
UTSW |
6 |
34,791,704 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7411:Agbl3
|
UTSW |
6 |
34,791,754 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7469:Agbl3
|
UTSW |
6 |
34,791,349 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7631:Agbl3
|
UTSW |
6 |
34,834,606 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7658:Agbl3
|
UTSW |
6 |
34,809,443 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7743:Agbl3
|
UTSW |
6 |
34,823,765 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7801:Agbl3
|
UTSW |
6 |
34,816,300 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8033:Agbl3
|
UTSW |
6 |
34,816,429 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8203:Agbl3
|
UTSW |
6 |
34,776,414 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8769:Agbl3
|
UTSW |
6 |
34,834,549 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9073:Agbl3
|
UTSW |
6 |
34,776,387 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9210:Agbl3
|
UTSW |
6 |
34,775,177 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9255:Agbl3
|
UTSW |
6 |
34,789,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9536:Agbl3
|
UTSW |
6 |
34,823,861 (GRCm39) |
missense |
probably benign |
|
|
R9560:Agbl3
|
UTSW |
6 |
34,823,843 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9662:Agbl3
|
UTSW |
6 |
34,809,468 (GRCm39) |
nonsense |
probably null |
|
|
RF014:Agbl3
|
UTSW |
6 |
34,776,293 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
Z1177:Agbl3
|
UTSW |
6 |
34,776,343 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACAATCGGGGTATGAAGCCATTG -3'
(R):5'- TTGGTCTCTCCTGGATGGAC -3'
Sequencing Primer
(F):5'- CATTGTTCTATTCTGAAAAAGAGGCC -3'
(R):5'- GGATGGACCCTTGCAGTCAAAATC -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation