Incidental Mutation 'R7411:Agbl3'
| ID |
575070 |
| 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 |
045492-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7411 (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 34791754 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 619
(S619P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110668
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115016]
[ENSMUST00000115017]
[ENSMUST00000148834]
|
| AlphaFold |
Q8CDP0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115016
AA Change: S619P
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000110668
Gene: ENSMUSG00000038836
AA Change: S619P
| 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: S614P
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000110669
Gene: ENSMUSG00000038836
AA Change: S614P
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810055G02Rik |
C |
T |
19: 3,767,241 (GRCm39) |
T276I |
possibly damaging |
Het |
| Abca17 |
A |
G |
17: 24,547,543 (GRCm39) |
I277T |
possibly damaging |
Het |
| Abcb11 |
C |
T |
2: 69,134,280 (GRCm39) |
|
probably null |
Het |
| Abcc12 |
C |
A |
8: 87,287,479 (GRCm39) |
R122L |
possibly damaging |
Het |
| Abcc8 |
A |
G |
7: 45,815,341 (GRCm39) |
|
probably null |
Het |
| Adam28 |
C |
T |
14: 68,864,396 (GRCm39) |
R469K |
probably damaging |
Het |
| Adamts18 |
T |
C |
8: 114,504,362 (GRCm39) |
Y243C |
probably damaging |
Het |
| Alpk3 |
A |
T |
7: 80,742,600 (GRCm39) |
T806S |
probably benign |
Het |
| Armh3 |
A |
C |
19: 45,953,874 (GRCm39) |
V170G |
probably benign |
Het |
| Atoh1 |
T |
A |
6: 64,706,914 (GRCm39) |
I203N |
probably damaging |
Het |
| Cables1 |
A |
G |
18: 11,973,572 (GRCm39) |
E237G |
probably benign |
Het |
| Cacna1d |
A |
G |
14: 30,074,947 (GRCm39) |
M1T |
probably null |
Het |
| Ccdc91 |
C |
T |
6: 147,493,696 (GRCm39) |
Q363* |
probably null |
Het |
| Cdhr17 |
A |
T |
5: 17,029,763 (GRCm39) |
T500S |
possibly damaging |
Het |
| Ceacam5 |
T |
A |
7: 17,484,678 (GRCm39) |
D473E |
probably damaging |
Het |
| Cfap54 |
T |
A |
10: 92,704,617 (GRCm39) |
D2821V |
unknown |
Het |
| Clca3a2 |
A |
G |
3: 144,507,860 (GRCm39) |
S737P |
probably damaging |
Het |
| Clec4n |
T |
A |
6: 123,209,145 (GRCm39) |
M70K |
probably benign |
Het |
| Dnai3 |
A |
G |
3: 145,802,900 (GRCm39) |
V97A |
probably damaging |
Het |
| Dstyk |
G |
A |
1: 132,345,404 (GRCm39) |
G21S |
probably benign |
Het |
| Efcab3 |
T |
G |
11: 104,890,549 (GRCm39) |
N4210K |
probably benign |
Het |
| Enpp5 |
A |
G |
17: 44,392,366 (GRCm39) |
D265G |
probably damaging |
Het |
| Gabrb1 |
T |
C |
5: 72,279,538 (GRCm39) |
|
probably null |
Het |
| Gm40460 |
CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
7: 141,794,554 (GRCm39) |
|
probably benign |
Het |
| Guk1 |
A |
G |
11: 59,076,811 (GRCm39) |
F91L |
|
Het |
| Ints1 |
C |
T |
5: 139,750,015 (GRCm39) |
E961K |
possibly damaging |
Het |
| Irx2 |
T |
A |
13: 72,777,182 (GRCm39) |
M1K |
probably null |
Het |
| Jrk |
C |
T |
15: 74,579,048 (GRCm39) |
R79H |
possibly damaging |
Het |
| Kcnu1 |
G |
T |
8: 26,382,116 (GRCm39) |
V489L |
probably damaging |
Het |
| Kctd7 |
C |
T |
5: 130,181,265 (GRCm39) |
T209M |
probably benign |
Het |
| Kdm5a |
T |
A |
6: 120,403,776 (GRCm39) |
V1127E |
probably damaging |
Het |
| Klk6 |
A |
G |
7: 43,476,367 (GRCm39) |
H69R |
probably damaging |
Het |
| Lck |
T |
C |
4: 129,445,763 (GRCm39) |
K340R |
probably benign |
Het |
| Lrrc75a |
A |
G |
11: 62,496,734 (GRCm39) |
L276P |
probably damaging |
Het |
| Med25 |
A |
G |
7: 44,527,667 (GRCm39) |
W730R |
probably damaging |
Het |
| Muc4 |
T |
C |
16: 32,570,140 (GRCm39) |
V400A |
probably benign |
Het |
| Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
| Myt1 |
C |
A |
2: 181,456,899 (GRCm39) |
H906Q |
probably damaging |
Het |
| Ncl |
A |
T |
1: 86,278,564 (GRCm39) |
F673I |
probably damaging |
Het |
| Nfe2l1 |
G |
T |
11: 96,713,009 (GRCm39) |
T216N |
probably benign |
Het |
| Nos2 |
G |
A |
11: 78,835,681 (GRCm39) |
|
probably null |
Het |
| Nphp4 |
T |
A |
4: 152,639,174 (GRCm39) |
I935N |
probably benign |
Het |
| Ntn1 |
G |
A |
11: 68,276,915 (GRCm39) |
A11V |
probably benign |
Het |
| Or2t26 |
A |
T |
11: 49,039,821 (GRCm39) |
M246L |
probably benign |
Het |
| Or4c10b |
T |
C |
2: 89,711,605 (GRCm39) |
V145A |
probably damaging |
Het |
| Pate11 |
T |
C |
9: 36,386,980 (GRCm39) |
V16A |
possibly damaging |
Het |
| Pcdha12 |
A |
G |
18: 37,154,661 (GRCm39) |
Y460C |
probably damaging |
Het |
| Pcdha4 |
G |
T |
18: 37,086,111 (GRCm39) |
R98L |
probably benign |
Het |
| Pitpnc1 |
A |
G |
11: 107,103,398 (GRCm39) |
S234P |
probably damaging |
Het |
| Pmfbp1 |
A |
T |
8: 110,240,503 (GRCm39) |
Y195F |
probably damaging |
Het |
| Prl6a1 |
T |
C |
13: 27,502,125 (GRCm39) |
I164T |
probably damaging |
Het |
| Ptpn18 |
G |
A |
1: 34,511,273 (GRCm39) |
|
probably null |
Het |
| Rhbdl2 |
G |
A |
4: 123,723,435 (GRCm39) |
A280T |
possibly damaging |
Het |
| Rsf1 |
CGGC |
CGGCGGCGGGGGC |
7: 97,229,139 (GRCm39) |
|
probably benign |
Het |
| Sema3a |
T |
G |
5: 13,566,230 (GRCm39) |
Y171* |
probably null |
Het |
| Set |
A |
G |
2: 29,956,897 (GRCm39) |
E22G |
probably benign |
Het |
| Sirpb1b |
A |
T |
3: 15,608,057 (GRCm39) |
D229E |
probably benign |
Het |
| Slc12a2 |
A |
T |
18: 58,074,085 (GRCm39) |
I1096F |
probably benign |
Het |
| Slc30a5 |
T |
C |
13: 100,954,688 (GRCm39) |
I159V |
probably benign |
Het |
| Slc35f3 |
CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
8: 127,115,777 (GRCm39) |
|
probably benign |
Het |
| Slc6a20b |
A |
G |
9: 123,434,013 (GRCm39) |
I275T |
probably benign |
Het |
| Speer1e |
T |
A |
5: 11,233,116 (GRCm39) |
|
probably null |
Het |
| Stradb |
A |
C |
1: 59,027,677 (GRCm39) |
D69A |
possibly damaging |
Het |
| Supt16 |
A |
T |
14: 52,415,508 (GRCm39) |
V409E |
probably damaging |
Het |
| Tcea2 |
A |
G |
2: 181,328,457 (GRCm39) |
N195S |
probably damaging |
Het |
| Thumpd3 |
T |
C |
6: 113,033,072 (GRCm39) |
V270A |
possibly damaging |
Het |
| Urgcp |
T |
A |
11: 5,668,116 (GRCm39) |
H117L |
probably benign |
Het |
| Vps13c |
T |
A |
9: 67,879,283 (GRCm39) |
M3408K |
probably damaging |
Het |
| Wdfy4 |
A |
C |
14: 32,828,088 (GRCm39) |
M1078R |
|
Het |
| Ypel5 |
G |
A |
17: 73,153,439 (GRCm39) |
|
probably null |
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 |
|
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'- GGGTGTATGTAGTAATCACCCTGTG -3'
(R):5'- AACACATGGCAAATGACAGTGC -3'
Sequencing Primer
(F):5'- TGTAGTAATCACCCTGTGACTATTAC -3'
(R):5'- GGCAAATGACAGTGCTTATTATTG -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation