Incidental Mutation 'R8033:Agbl3'
| ID |
618083 |
| 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 |
067470-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8033 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
34757367-34836394 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 34816429 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 785
(T785A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110668
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115016]
[ENSMUST00000115017]
[ENSMUST00000148834]
|
| AlphaFold |
Q8CDP0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000115016
AA Change: T785A
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000110668
Gene: ENSMUSG00000038836
AA Change: T785A
| 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 |
possibly damaging
Transcript: ENSMUST00000115017
AA Change: T780A
PolyPhen 2
Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000110669
Gene: ENSMUSG00000038836
AA Change: T780A
| 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: 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: 99.7%
- 20x: 99.1%
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
A |
T |
11: 109,927,348 (GRCm39) |
I1335K |
probably damaging |
Het |
| Adgrb2 |
A |
G |
4: 129,912,805 (GRCm39) |
E1277G |
probably benign |
Het |
| Ahnak |
T |
C |
19: 8,981,074 (GRCm39) |
V786A |
probably benign |
Het |
| Armc2 |
A |
G |
10: 41,884,680 (GRCm39) |
I87T |
possibly damaging |
Het |
| Asap2 |
T |
C |
12: 21,274,390 (GRCm39) |
S373P |
probably damaging |
Het |
| Casd1 |
A |
T |
6: 4,619,773 (GRCm39) |
I173F |
probably benign |
Het |
| Chd2 |
A |
G |
7: 73,085,628 (GRCm39) |
Y1669H |
probably damaging |
Het |
| Clic3 |
A |
G |
2: 25,348,617 (GRCm39) |
E199G |
probably benign |
Het |
| Cpa4 |
G |
A |
6: 30,590,799 (GRCm39) |
V366I |
probably benign |
Het |
| Creg2 |
T |
C |
1: 39,689,795 (GRCm39) |
Y105C |
probably damaging |
Het |
| Cyp20a1 |
T |
C |
1: 60,411,750 (GRCm39) |
I266T |
probably benign |
Het |
| Dido1 |
T |
C |
2: 180,316,635 (GRCm39) |
D685G |
probably damaging |
Het |
| Dop1b |
C |
G |
16: 93,566,371 (GRCm39) |
R1051G |
probably benign |
Het |
| Fam114a2 |
A |
G |
11: 57,398,333 (GRCm39) |
S202P |
probably damaging |
Het |
| Fance |
G |
T |
17: 28,532,659 (GRCm39) |
|
probably benign |
Het |
| Farsa |
T |
A |
8: 85,594,198 (GRCm39) |
L316Q |
probably benign |
Het |
| Fcrl6 |
T |
C |
1: 172,426,748 (GRCm39) |
D66G |
probably benign |
Het |
| Gatad1 |
T |
C |
5: 3,693,540 (GRCm39) |
R210G |
probably benign |
Het |
| Gh |
A |
T |
11: 106,191,381 (GRCm39) |
D154E |
probably benign |
Het |
| Kmt2a |
A |
T |
9: 44,756,767 (GRCm39) |
V1160E |
probably damaging |
Het |
| Lct |
T |
C |
1: 128,212,996 (GRCm39) |
T1886A |
probably benign |
Het |
| Lrwd1 |
G |
A |
5: 136,152,079 (GRCm39) |
L633F |
probably damaging |
Het |
| Mmp15 |
A |
T |
8: 96,094,590 (GRCm39) |
N155Y |
probably benign |
Het |
| Msantd5f6 |
T |
C |
4: 73,321,329 (GRCm39) |
N143D |
probably benign |
Het |
| Mtf2 |
T |
G |
5: 108,234,951 (GRCm39) |
C125G |
probably damaging |
Het |
| Muc16 |
A |
T |
9: 18,547,902 (GRCm39) |
D6130E |
probably benign |
Het |
| Or5m9b |
T |
A |
2: 85,905,219 (GRCm39) |
I45N |
possibly damaging |
Het |
| Orc1 |
T |
A |
4: 108,462,761 (GRCm39) |
Y613N |
probably damaging |
Het |
| Pak1 |
A |
G |
7: 97,535,590 (GRCm39) |
N227S |
probably benign |
Het |
| Pex3 |
G |
A |
10: 13,407,024 (GRCm39) |
Q306* |
probably null |
Het |
| Pld1 |
A |
T |
3: 28,083,359 (GRCm39) |
M160L |
probably benign |
Het |
| Plekhh1 |
G |
A |
12: 79,117,710 (GRCm39) |
R902H |
probably benign |
Het |
| Prp2 |
A |
G |
6: 132,577,391 (GRCm39) |
H226R |
unknown |
Het |
| Rad21 |
T |
G |
15: 51,827,628 (GRCm39) |
T578P |
probably damaging |
Het |
| Sp140 |
G |
A |
1: 85,547,815 (GRCm39) |
V181I |
probably benign |
Het |
| Spen |
A |
G |
4: 141,199,057 (GRCm39) |
V3190A |
probably benign |
Het |
| Spg11 |
A |
C |
2: 121,917,432 (GRCm39) |
C1011W |
probably damaging |
Het |
| Syngr3 |
G |
A |
17: 24,905,579 (GRCm39) |
R132* |
probably null |
Het |
| Tbc1d10c |
A |
G |
19: 4,238,013 (GRCm39) |
F254L |
possibly damaging |
Het |
| Tcea1 |
T |
A |
1: 4,962,141 (GRCm39) |
I176K |
probably damaging |
Het |
| Timm50 |
G |
A |
7: 28,006,258 (GRCm39) |
A281V |
possibly damaging |
Het |
| Tmem144 |
C |
T |
3: 79,732,624 (GRCm39) |
R218K |
probably benign |
Het |
| Upp2 |
A |
G |
2: 58,670,071 (GRCm39) |
Y259C |
probably damaging |
Het |
| Vcan |
A |
G |
13: 89,852,479 (GRCm39) |
V827A |
probably benign |
Het |
| Vps41 |
T |
A |
13: 18,994,635 (GRCm39) |
W161R |
possibly damaging |
Het |
| Zfp994 |
A |
T |
17: 22,419,665 (GRCm39) |
I428N |
probably 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 |
|
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 |
|
R9072:Agbl3
|
UTSW |
6 |
34,776,387 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- TCCCAGCGTATGATTAAGAGTC -3'
(R):5'- AAAGTTCCTTGGCTGTAGAGTAG -3'
Sequencing Primer
(F):5'- CCCAGCGTATGATTAAGAGTCTTAAC -3'
(R):5'- ATGTGTTTCAGTCATTCAGAGATG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation