Incidental Mutation 'R6986:Agbl3'
| ID |
542968 |
| 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 |
045093-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6986 (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 34816387 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 766
(K766E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110669
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115016]
[ENSMUST00000115017]
[ENSMUST00000148834]
|
| AlphaFold |
Q8CDP0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115016
AA Change: K771E
PolyPhen 2
Score 0.298 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000110668
Gene: ENSMUSG00000038836
AA Change: K771E
| 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 benign
Transcript: ENSMUST00000115017
AA Change: K766E
PolyPhen 2
Score 0.423 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000110669
Gene: ENSMUSG00000038836
AA Change: K766E
| 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: 99.9%
- 10x: 99.3%
- 20x: 98.1%
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy9 |
T |
C |
16: 4,129,441 (GRCm39) |
N482D |
probably damaging |
Het |
| Aldh3a1 |
T |
A |
11: 61,105,077 (GRCm39) |
I154N |
probably damaging |
Het |
| Cdca2 |
C |
T |
14: 67,932,446 (GRCm39) |
V486I |
probably benign |
Het |
| Celf3 |
G |
C |
3: 94,395,024 (GRCm39) |
A313P |
possibly damaging |
Het |
| Cgrrf1 |
T |
C |
14: 47,069,586 (GRCm39) |
|
probably benign |
Het |
| Chd7 |
T |
A |
4: 8,859,285 (GRCm39) |
N2458K |
possibly damaging |
Het |
| Chrna5 |
T |
A |
9: 54,913,741 (GRCm39) |
M429K |
possibly damaging |
Het |
| Cux2 |
A |
T |
5: 122,006,642 (GRCm39) |
L876Q |
possibly damaging |
Het |
| Cyb5rl |
T |
A |
4: 106,928,073 (GRCm39) |
S3T |
probably benign |
Het |
| Ehd4 |
A |
T |
2: 119,927,571 (GRCm39) |
M321K |
probably damaging |
Het |
| Ell2 |
C |
A |
13: 75,910,006 (GRCm39) |
L119M |
probably damaging |
Het |
| Endod1 |
T |
C |
9: 14,268,606 (GRCm39) |
E293G |
probably damaging |
Het |
| Fat3 |
G |
A |
9: 15,932,631 (GRCm39) |
T1434I |
probably damaging |
Het |
| Flrt2 |
T |
A |
12: 95,747,459 (GRCm39) |
I599N |
probably damaging |
Het |
| Gm6370 |
T |
A |
5: 146,430,398 (GRCm39) |
|
probably null |
Het |
| Gm7247 |
T |
C |
14: 51,602,832 (GRCm39) |
M56T |
possibly damaging |
Het |
| H3c8 |
A |
G |
13: 23,719,603 (GRCm39) |
|
probably benign |
Het |
| Herc2 |
G |
A |
7: 55,756,201 (GRCm39) |
R747H |
possibly damaging |
Het |
| Ints8 |
T |
C |
4: 11,204,474 (GRCm39) |
Y994C |
probably damaging |
Het |
| Irf1 |
A |
G |
11: 53,664,966 (GRCm39) |
T165A |
probably damaging |
Het |
| Lgr6 |
G |
T |
1: 134,921,694 (GRCm39) |
Q217K |
possibly damaging |
Het |
| Lrrc36 |
T |
C |
8: 106,185,079 (GRCm39) |
S619P |
probably damaging |
Het |
| Morn4 |
T |
C |
19: 42,066,453 (GRCm39) |
N45D |
possibly damaging |
Het |
| Mtarc2 |
T |
C |
1: 184,573,460 (GRCm39) |
H53R |
probably benign |
Het |
| Mtmr3 |
T |
C |
11: 4,439,692 (GRCm39) |
T583A |
probably damaging |
Het |
| Ncdn |
A |
G |
4: 126,641,022 (GRCm39) |
Y493H |
probably damaging |
Het |
| Nckap1 |
T |
A |
2: 80,350,911 (GRCm39) |
Y726F |
probably benign |
Het |
| Optc |
T |
A |
1: 133,825,702 (GRCm39) |
M275L |
probably benign |
Het |
| Or2w25 |
A |
G |
11: 59,504,924 (GRCm39) |
K378R |
possibly damaging |
Het |
| Or6c69c |
G |
A |
10: 129,911,199 (GRCm39) |
V307M |
possibly damaging |
Het |
| Perm1 |
A |
T |
4: 156,302,976 (GRCm39) |
K507* |
probably null |
Het |
| Pgbd5 |
C |
T |
8: 125,111,212 (GRCm39) |
E160K |
possibly damaging |
Het |
| Polr2k |
C |
A |
15: 36,175,181 (GRCm39) |
P14T |
probably benign |
Het |
| Ppp2r3d |
A |
T |
9: 124,439,080 (GRCm38) |
Y112* |
probably null |
Het |
| Pramel14 |
T |
A |
4: 143,719,888 (GRCm39) |
D159V |
probably damaging |
Het |
| Rnase9 |
T |
C |
14: 51,276,537 (GRCm39) |
N147S |
probably benign |
Het |
| Rnls |
C |
T |
19: 33,359,781 (GRCm39) |
G11D |
probably damaging |
Het |
| Sbf2 |
T |
C |
7: 109,929,822 (GRCm39) |
T333A |
probably damaging |
Het |
| Scn3a |
A |
T |
2: 65,338,962 (GRCm39) |
N572K |
probably damaging |
Het |
| Serinc3 |
A |
G |
2: 163,469,891 (GRCm39) |
L319P |
probably benign |
Het |
| Setbp1 |
T |
C |
18: 78,901,054 (GRCm39) |
D871G |
probably damaging |
Het |
| Sf3b2 |
T |
C |
19: 5,329,923 (GRCm39) |
T661A |
probably benign |
Het |
| Sgsm2 |
T |
A |
11: 74,782,867 (GRCm39) |
R30W |
probably damaging |
Het |
| Sh3tc1 |
A |
G |
5: 35,881,288 (GRCm39) |
S52P |
probably benign |
Het |
| Smox |
C |
T |
2: 131,364,031 (GRCm39) |
A45V |
possibly damaging |
Het |
| Snrpa |
A |
T |
7: 26,892,389 (GRCm39) |
M57K |
probably damaging |
Het |
| Spata31f3 |
A |
G |
4: 42,868,696 (GRCm39) |
V309A |
possibly damaging |
Het |
| Srbd1 |
A |
T |
17: 86,292,650 (GRCm39) |
I973N |
probably damaging |
Het |
| Srp72 |
T |
A |
5: 77,142,723 (GRCm39) |
S428T |
probably benign |
Het |
| Ss18l2 |
A |
G |
9: 121,541,671 (GRCm39) |
Y50C |
probably damaging |
Het |
| St14 |
A |
G |
9: 31,007,845 (GRCm39) |
L578P |
probably damaging |
Het |
| Ticam1 |
C |
T |
17: 56,576,900 (GRCm39) |
E732K |
probably benign |
Het |
| Tmc1 |
T |
C |
19: 20,801,647 (GRCm39) |
N460D |
probably benign |
Het |
| Tnni3k |
C |
T |
3: 154,667,501 (GRCm39) |
G280R |
probably damaging |
Het |
| Trgv6 |
G |
T |
13: 19,374,814 (GRCm39) |
G40W |
possibly damaging |
Het |
| Trpc3 |
A |
G |
3: 36,709,165 (GRCm39) |
|
probably null |
Het |
| Tshr |
C |
T |
12: 91,500,731 (GRCm39) |
A152V |
probably damaging |
Het |
| Tuft1 |
G |
A |
3: 94,521,461 (GRCm39) |
P358S |
probably damaging |
Het |
| Vmn2r120 |
A |
T |
17: 57,816,340 (GRCm39) |
S672T |
probably damaging |
Het |
| Vmn2r83 |
G |
T |
10: 79,316,093 (GRCm39) |
E496D |
probably benign |
Het |
| Vmn2r91 |
A |
G |
17: 18,356,271 (GRCm39) |
N646S |
probably benign |
Het |
| Zfp9 |
A |
G |
6: 118,441,426 (GRCm39) |
V412A |
possibly damaging |
Het |
| Zmynd8 |
G |
T |
2: 165,675,335 (GRCm39) |
H273N |
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 |
|
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 |
|
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'- TGTAAGTATGTGACACTGAGATGAC -3'
(R):5'- AAGTTCCTTGGCTGTAGAGTAG -3'
Sequencing Primer
(F):5'- TGTGACACTGAGATGACAATACTC -3'
(R):5'- GAGGGCAATGGTTATTAATCCCCC -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation