Incidental Mutation 'R3420:Agbl3'
| ID |
267007 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Agbl3
|
| Ensembl Gene |
ENSMUSG00000038836 |
| Gene Name |
ATP/GTP binding protein-like 3 |
| Synonyms |
4930431N21Rik, 2900053G10Rik, 6530406M24Rik |
| MMRRC Submission |
040638-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3420 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
34780432-34859459 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 34793965 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 132
(T132A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110669
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115016]
[ENSMUST00000115017]
[ENSMUST00000135304]
[ENSMUST00000148834]
|
| AlphaFold |
Q8CDP0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115016
AA Change: T132A
PolyPhen 2
Score 0.364 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000110668
Gene: ENSMUSG00000038836
AA Change: T132A
| 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: T132A
PolyPhen 2
Score 0.364 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000110669
Gene: ENSMUSG00000038836
AA Change: T132A
| 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
AA Change: T132A
PolyPhen 2
Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000118303
Gene: ENSMUSG00000038836
AA Change: T132A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
25 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143474
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148834
AA Change: T132A
PolyPhen 2
Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000116066
Gene: ENSMUSG00000038836
AA Change: T132A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
25 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155726
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155890
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202017
|
| Meta Mutation Damage Score |
0.2113 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Amn1 |
A |
T |
6: 149,169,452 |
L196* |
probably null |
Het |
| Ccdc73 |
A |
T |
2: 104,951,947 |
K216M |
probably null |
Het |
| Ccdc73 |
G |
A |
2: 104,951,948 |
|
probably null |
Het |
| Celsr2 |
A |
G |
3: 108,414,416 |
V360A |
probably benign |
Het |
| Ckap5 |
T |
A |
2: 91,570,252 |
W650R |
probably damaging |
Het |
| Cyp2b9 |
G |
A |
7: 26,210,103 |
G432E |
probably damaging |
Het |
| Dclre1b |
A |
G |
3: 103,808,096 |
Y29H |
probably damaging |
Het |
| Enthd1 |
T |
C |
15: 80,560,024 |
D110G |
probably damaging |
Het |
| Fam19a1 |
C |
A |
6: 96,649,138 |
D112E |
probably damaging |
Het |
| Grin1 |
C |
T |
2: 25,303,914 |
G390D |
probably damaging |
Het |
| Hoxc6 |
T |
A |
15: 103,010,895 |
W188R |
probably damaging |
Het |
| Kcnip1 |
A |
G |
11: 33,645,594 |
V43A |
probably damaging |
Het |
| Kifap3 |
T |
A |
1: 163,794,026 |
I81N |
probably damaging |
Het |
| Klb |
G |
A |
5: 65,372,142 |
G338S |
probably damaging |
Het |
| Mrc2 |
G |
A |
11: 105,348,431 |
|
probably null |
Het |
| Nuak2 |
A |
G |
1: 132,332,080 |
D532G |
probably benign |
Het |
| Olfr26 |
A |
G |
9: 38,855,325 |
K88E |
possibly damaging |
Het |
| Prps2 |
G |
A |
X: 167,382,508 |
|
probably null |
Het |
| Prss23 |
C |
A |
7: 89,509,899 |
V321L |
possibly damaging |
Het |
| Psmb2 |
T |
C |
4: 126,677,837 |
M28T |
probably damaging |
Het |
| Ric1 |
T |
C |
19: 29,567,590 |
I230T |
probably damaging |
Het |
| Slc25a17 |
C |
T |
15: 81,360,700 |
V11I |
probably benign |
Het |
| Slc5a4a |
T |
C |
10: 76,176,573 |
V359A |
probably benign |
Het |
| Slco1a5 |
A |
T |
6: 142,268,238 |
D52E |
possibly damaging |
Het |
| Tlr4 |
A |
G |
4: 66,839,536 |
I189V |
probably benign |
Het |
| Washc1 |
T |
C |
17: 66,117,033 |
S247P |
probably damaging |
Het |
| Zdhhc14 |
T |
A |
17: 5,753,091 |
*490R |
probably null |
Het |
| Zfp217 |
A |
G |
2: 170,120,017 |
F130S |
possibly damaging |
Het |
|
| Other mutations in Agbl3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00336:Agbl3
|
APN |
6 |
34846836 |
missense |
probably damaging |
1.00 |
|
IGL00835:Agbl3
|
APN |
6 |
34799732 |
missense |
probably damaging |
1.00 |
|
IGL00840:Agbl3
|
APN |
6 |
34799159 |
missense |
possibly damaging |
0.95 |
|
IGL01090:Agbl3
|
APN |
6 |
34799887 |
missense |
probably benign |
0.40 |
|
IGL01123:Agbl3
|
APN |
6 |
34846976 |
nonsense |
probably null |
|
|
IGL01707:Agbl3
|
APN |
6 |
34839454 |
missense |
possibly damaging |
0.78 |
|
IGL01728:Agbl3
|
APN |
6 |
34782157 |
start codon destroyed |
probably null |
|
|
IGL02335:Agbl3
|
APN |
6 |
34799750 |
missense |
probably damaging |
1.00 |
|
IGL02420:Agbl3
|
APN |
6 |
34785307 |
missense |
possibly damaging |
0.47 |
|
IGL02551:Agbl3
|
APN |
6 |
34823071 |
missense |
possibly damaging |
0.88 |
|
IGL02974:Agbl3
|
APN |
6 |
34799822 |
missense |
probably damaging |
1.00 |
|
IGL03167:Agbl3
|
APN |
6 |
34857659 |
missense |
possibly damaging |
0.92 |
|
IGL03182:Agbl3
|
APN |
6 |
34803500 |
missense |
probably damaging |
1.00 |
|
R0044:Agbl3
|
UTSW |
6 |
34799899 |
missense |
probably damaging |
1.00 |
|
R0499:Agbl3
|
UTSW |
6 |
34839335 |
missense |
probably benign |
|
|
R0639:Agbl3
|
UTSW |
6 |
34799705 |
missense |
probably damaging |
1.00 |
|
R0850:Agbl3
|
UTSW |
6 |
34799204 |
missense |
probably damaging |
1.00 |
|
R1004:Agbl3
|
UTSW |
6 |
34803451 |
missense |
probably damaging |
0.99 |
|
R1080:Agbl3
|
UTSW |
6 |
34828235 |
missense |
probably benign |
0.14 |
|
R1589:Agbl3
|
UTSW |
6 |
34857517 |
missense |
possibly damaging |
0.77 |
|
R2361:Agbl3
|
UTSW |
6 |
34832505 |
missense |
possibly damaging |
0.87 |
|
R2495:Agbl3
|
UTSW |
6 |
34846764 |
missense |
probably damaging |
1.00 |
|
R3236:Agbl3
|
UTSW |
6 |
34823087 |
splice site |
probably null |
|
|
R3237:Agbl3
|
UTSW |
6 |
34823087 |
splice site |
probably null |
|
|
R3421:Agbl3
|
UTSW |
6 |
34793965 |
missense |
probably benign |
0.36 |
|
R3422:Agbl3
|
UTSW |
6 |
34793965 |
missense |
probably benign |
0.36 |
|
R3810:Agbl3
|
UTSW |
6 |
34799729 |
missense |
probably damaging |
1.00 |
|
R3811:Agbl3
|
UTSW |
6 |
34799729 |
missense |
probably damaging |
1.00 |
|
R4059:Agbl3
|
UTSW |
6 |
34846899 |
missense |
probably damaging |
1.00 |
|
R4499:Agbl3
|
UTSW |
6 |
34857598 |
missense |
probably benign |
0.00 |
|
R4687:Agbl3
|
UTSW |
6 |
34798326 |
missense |
probably damaging |
1.00 |
|
R4854:Agbl3
|
UTSW |
6 |
34785284 |
missense |
probably damaging |
0.97 |
|
R5354:Agbl3
|
UTSW |
6 |
34814752 |
missense |
probably benign |
0.03 |
|
R5386:Agbl3
|
UTSW |
6 |
34799196 |
missense |
probably damaging |
1.00 |
|
R5897:Agbl3
|
UTSW |
6 |
34803573 |
missense |
probably benign |
0.21 |
|
R6018:Agbl3
|
UTSW |
6 |
34799255 |
missense |
probably damaging |
1.00 |
|
R6148:Agbl3
|
UTSW |
6 |
34857753 |
missense |
possibly damaging |
0.87 |
|
R6305:Agbl3
|
UTSW |
6 |
34782210 |
missense |
unknown |
|
|
R6525:Agbl3
|
UTSW |
6 |
34803594 |
nonsense |
probably null |
|
|
R6546:Agbl3
|
UTSW |
6 |
34799299 |
missense |
probably damaging |
1.00 |
|
R6743:Agbl3
|
UTSW |
6 |
34846953 |
missense |
probably benign |
0.03 |
|
R6986:Agbl3
|
UTSW |
6 |
34839452 |
missense |
probably benign |
0.42 |
|
R7023:Agbl3
|
UTSW |
6 |
34814769 |
missense |
probably benign |
0.02 |
|
R7411:Agbl3
|
UTSW |
6 |
34814819 |
missense |
probably damaging |
0.99 |
|
R7469:Agbl3
|
UTSW |
6 |
34814414 |
missense |
probably damaging |
1.00 |
|
R7631:Agbl3
|
UTSW |
6 |
34857671 |
missense |
possibly damaging |
0.95 |
|
R7658:Agbl3
|
UTSW |
6 |
34832508 |
missense |
probably benign |
0.11 |
|
R7743:Agbl3
|
UTSW |
6 |
34846830 |
missense |
probably damaging |
1.00 |
|
R7801:Agbl3
|
UTSW |
6 |
34839365 |
missense |
probably benign |
0.00 |
|
R8033:Agbl3
|
UTSW |
6 |
34839494 |
missense |
possibly damaging |
0.95 |
|
R8203:Agbl3
|
UTSW |
6 |
34799479 |
missense |
probably damaging |
1.00 |
|
R8769:Agbl3
|
UTSW |
6 |
34857614 |
missense |
probably damaging |
0.96 |
|
R9072:Agbl3
|
UTSW |
6 |
34799452 |
missense |
probably damaging |
1.00 |
|
R9073:Agbl3
|
UTSW |
6 |
34799452 |
missense |
probably damaging |
1.00 |
|
R9210:Agbl3
|
UTSW |
6 |
34798242 |
missense |
probably damaging |
0.98 |
|
R9255:Agbl3
|
UTSW |
6 |
34812905 |
missense |
probably damaging |
1.00 |
|
R9536:Agbl3
|
UTSW |
6 |
34846926 |
missense |
probably benign |
|
|
R9560:Agbl3
|
UTSW |
6 |
34846908 |
missense |
possibly damaging |
0.94 |
|
R9662:Agbl3
|
UTSW |
6 |
34832533 |
nonsense |
probably null |
|
|
RF014:Agbl3
|
UTSW |
6 |
34799358 |
missense |
possibly damaging |
0.53 |
|
Z1177:Agbl3
|
UTSW |
6 |
34799408 |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCAGCCATGAGTTGTGTTTAC -3'
(R):5'- TTACAAAGGTGATCTGCAGATAGAG -3'
Sequencing Primer
(F):5'- AGAATCCTTGGTAAAATTGTAGCTC -3'
(R):5'- GTCTTCAATAACTCAAATAGCAC -3'
|
| Posted On |
2015-02-18 |
Incidental Mutation