Incidental Mutation 'R0020:Agfg2'
| ID |
8385 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Agfg2
|
| Ensembl Gene |
ENSMUSG00000029722 |
| Gene Name |
ArfGAP with FG repeats 2 |
| Synonyms |
A630095P14Rik, Hrbl |
| MMRRC Submission |
038315-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0020 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
137648725-137682988 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 137652064 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 432
(V432M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000098112
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031736]
[ENSMUST00000100544]
[ENSMUST00000151839]
[ENSMUST00000198657]
|
| AlphaFold |
Q80WC7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031736
AA Change: V421M
PolyPhen 2
Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000031736
Gene: ENSMUSG00000029722
AA Change: V421M
| Domain | Start | End | E-Value | Type |
|---|
|
ArfGap
|
27 |
153 |
7.19e-35 |
SMART |
|
low complexity region
|
194 |
219 |
N/A |
INTRINSIC |
|
low complexity region
|
235 |
249 |
N/A |
INTRINSIC |
|
low complexity region
|
269 |
283 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000100544
AA Change: V432M
PolyPhen 2
Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000098112
Gene: ENSMUSG00000029722
AA Change: V432M
| Domain | Start | End | E-Value | Type |
|---|
|
ArfGap
|
27 |
153 |
7.19e-35 |
SMART |
|
low complexity region
|
194 |
219 |
N/A |
INTRINSIC |
|
low complexity region
|
235 |
249 |
N/A |
INTRINSIC |
|
low complexity region
|
269 |
283 |
N/A |
INTRINSIC |
|
low complexity region
|
285 |
296 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147518
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151839
|
| SMART Domains |
Protein: ENSMUSP00000117351
Gene: ENSMUSG00000029722
| Domain | Start | End | E-Value | Type |
|---|
|
ArfGap
|
27 |
153 |
7.19e-35 |
SMART |
|
low complexity region
|
194 |
219 |
N/A |
INTRINSIC |
|
low complexity region
|
235 |
249 |
N/A |
INTRINSIC |
|
low complexity region
|
268 |
282 |
N/A |
INTRINSIC |
|
low complexity region
|
284 |
295 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198657
|
| SMART Domains |
Protein: ENSMUSP00000143273
Gene: ENSMUSG00000029722
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
24 |
51 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 82.6%
- 3x: 76.6%
- 10x: 60.3%
- 20x: 42.3%
|
| Validation Efficiency |
92% (100/109) |
| MGI Phenotype |
FUNCTION: This gene encodes a paralog of the HIV-1 Rev binding proteins that serve as cellular co-factors for HIV-1 Rev protein in shuttling viral pre-mRNAs from the nucleus to the cytoplasm. The encoded protein contains an ADP-ribosylation factor GTPase activating protein (Arf-GAP) zinc finger domain, several phenylalanine-glycine (FG) motifs and asparagine-proline-phenylalanine (NPF) motifs. Alternate splicing of this gene results in multiple transcript variants. [provided by RefSeq, Dec 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap11 |
A |
T |
14: 78,755,617 (GRCm39) |
I74K |
probably benign |
Het |
| Atf2 |
T |
C |
2: 73,676,628 (GRCm39) |
D122G |
possibly damaging |
Het |
| Brd10 |
A |
T |
19: 29,693,597 (GRCm39) |
D2032E |
probably damaging |
Het |
| Ccser1 |
C |
A |
6: 61,290,788 (GRCm39) |
T490K |
possibly damaging |
Het |
| Cip2a |
A |
T |
16: 48,821,975 (GRCm39) |
H201L |
probably damaging |
Het |
| Clstn1 |
G |
A |
4: 149,719,253 (GRCm39) |
V361M |
probably damaging |
Het |
| Cnga4 |
G |
T |
7: 105,054,884 (GRCm39) |
R53L |
probably damaging |
Het |
| Col6a3 |
T |
A |
1: 90,739,272 (GRCm39) |
I319F |
probably damaging |
Het |
| Cst11 |
T |
A |
2: 148,613,253 (GRCm39) |
Y24F |
probably damaging |
Het |
| Cstb |
T |
A |
10: 78,263,170 (GRCm39) |
V65E |
probably benign |
Het |
| Cyp2j11 |
G |
A |
4: 96,195,641 (GRCm39) |
H352Y |
probably benign |
Het |
| Ezr |
G |
T |
17: 7,010,126 (GRCm39) |
Q308K |
probably damaging |
Het |
| F3 |
A |
T |
3: 121,525,265 (GRCm39) |
N169Y |
probably damaging |
Het |
| Fbp2 |
A |
T |
13: 63,001,862 (GRCm39) |
F118I |
probably damaging |
Het |
| Fcho1 |
C |
T |
8: 72,169,514 (GRCm39) |
G131R |
probably benign |
Het |
| Fhl5 |
A |
T |
4: 25,200,054 (GRCm39) |
V260E |
probably benign |
Het |
| Kcna10 |
A |
T |
3: 107,102,736 (GRCm39) |
I456F |
probably damaging |
Het |
| Loxl2 |
T |
C |
14: 69,898,242 (GRCm39) |
V232A |
probably damaging |
Het |
| Megf10 |
G |
T |
18: 57,420,965 (GRCm39) |
V868F |
possibly damaging |
Het |
| Megf9 |
A |
G |
4: 70,406,386 (GRCm39) |
V260A |
probably benign |
Het |
| Nampt |
A |
T |
12: 32,891,012 (GRCm39) |
S278C |
probably damaging |
Het |
| Nap1l1 |
A |
C |
10: 111,326,884 (GRCm39) |
E148D |
probably benign |
Het |
| Pamr1 |
C |
T |
2: 102,472,423 (GRCm39) |
T574I |
probably benign |
Het |
| Pde4d |
T |
A |
13: 110,091,104 (GRCm39) |
C35S |
possibly damaging |
Het |
| Pkd1l1 |
A |
G |
11: 8,825,765 (GRCm39) |
|
probably benign |
Het |
| Pkd2 |
A |
G |
5: 104,651,382 (GRCm39) |
E910G |
probably damaging |
Het |
| Pkhd1l1 |
A |
G |
15: 44,420,268 (GRCm39) |
Y3002C |
probably damaging |
Het |
| Ppp6r2 |
T |
A |
15: 89,143,342 (GRCm39) |
M163K |
probably damaging |
Het |
| Prdm4 |
T |
C |
10: 85,743,487 (GRCm39) |
N256S |
probably benign |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Rimoc1 |
T |
C |
15: 4,021,350 (GRCm39) |
|
probably benign |
Het |
| Scube2 |
A |
G |
7: 109,430,095 (GRCm39) |
|
probably benign |
Het |
| Slco1a8 |
A |
T |
6: 141,918,076 (GRCm39) |
V600E |
possibly damaging |
Het |
| Sptbn5 |
T |
A |
2: 119,896,112 (GRCm39) |
I779F |
probably damaging |
Het |
| Tamalin |
T |
C |
15: 101,128,433 (GRCm39) |
V157A |
probably damaging |
Het |
| Uspl1 |
A |
G |
5: 149,146,589 (GRCm39) |
T447A |
probably damaging |
Het |
| Zfp282 |
T |
G |
6: 47,856,943 (GRCm39) |
W59G |
probably damaging |
Het |
| Zfp629 |
C |
G |
7: 127,210,341 (GRCm39) |
E489D |
probably benign |
Het |
| Zfp746 |
C |
A |
6: 48,041,641 (GRCm39) |
A362S |
probably benign |
Het |
|
| Other mutations in Agfg2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0020:Agfg2
|
UTSW |
5 |
137,652,064 (GRCm39) |
missense |
probably benign |
0.22 |
|
R0584:Agfg2
|
UTSW |
5 |
137,665,992 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1692:Agfg2
|
UTSW |
5 |
137,662,633 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1982:Agfg2
|
UTSW |
5 |
137,662,515 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R2140:Agfg2
|
UTSW |
5 |
137,665,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3816:Agfg2
|
UTSW |
5 |
137,652,036 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4527:Agfg2
|
UTSW |
5 |
137,682,798 (GRCm39) |
missense |
unknown |
|
|
R4645:Agfg2
|
UTSW |
5 |
137,682,854 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R4965:Agfg2
|
UTSW |
5 |
137,665,439 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5022:Agfg2
|
UTSW |
5 |
137,658,422 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5426:Agfg2
|
UTSW |
5 |
137,666,020 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6140:Agfg2
|
UTSW |
5 |
137,665,347 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7474:Agfg2
|
UTSW |
5 |
137,652,130 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R7752:Agfg2
|
UTSW |
5 |
137,665,966 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7901:Agfg2
|
UTSW |
5 |
137,665,966 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8172:Agfg2
|
UTSW |
5 |
137,665,431 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8190:Agfg2
|
UTSW |
5 |
137,653,664 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9005:Agfg2
|
UTSW |
5 |
137,650,744 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9238:Agfg2
|
UTSW |
5 |
137,653,622 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9342:Agfg2
|
UTSW |
5 |
137,652,114 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9373:Agfg2
|
UTSW |
5 |
137,662,476 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Posted On |
2012-11-27 |
Incidental Mutation