Incidental Mutation 'R4527:Agfg2'
| ID |
334475 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Agfg2
|
| Ensembl Gene |
ENSMUSG00000029722 |
| Gene Name |
ArfGAP with FG repeats 2 |
| Synonyms |
A630095P14Rik, Hrbl |
| MMRRC Submission |
041768-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4527 (G1)
|
| Quality Score |
189 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
137648725-137682988 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 137682798 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 15
(V15A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117351
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031736]
[ENSMUST00000100544]
[ENSMUST00000151839]
|
| AlphaFold |
Q80WC7 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000031736
AA Change: V15A
|
| SMART Domains |
Protein: ENSMUSP00000031736
Gene: ENSMUSG00000029722
AA Change: V15A
| 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 |
unknown
Transcript: ENSMUST00000100544
AA Change: V15A
|
| SMART Domains |
Protein: ENSMUSP00000098112
Gene: ENSMUSG00000029722
AA Change: V15A
| 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: ENSMUST00000126693
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138604
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000151839
AA Change: V15A
|
| SMART Domains |
Protein: ENSMUSP00000117351
Gene: ENSMUSG00000029722
AA Change: V15A
| 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 |
|
| Meta Mutation Damage Score |
0.0671 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
| Validation Efficiency |
100% (40/40) |
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asb3 |
A |
G |
11: 31,008,933 (GRCm39) |
D278G |
probably benign |
Het |
| Atrn |
T |
C |
2: 130,815,424 (GRCm39) |
I780T |
probably benign |
Het |
| Car2 |
C |
T |
3: 14,963,065 (GRCm39) |
P200L |
probably damaging |
Het |
| Cars1 |
A |
T |
7: 143,118,786 (GRCm39) |
M668K |
probably benign |
Het |
| Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
| Cer1 |
A |
G |
4: 82,802,906 (GRCm39) |
F139L |
possibly damaging |
Het |
| Crhr2 |
T |
A |
6: 55,109,838 (GRCm39) |
|
probably benign |
Het |
| Dnah7c |
G |
A |
1: 46,572,091 (GRCm39) |
E855K |
probably benign |
Het |
| Espn |
C |
T |
4: 152,220,106 (GRCm39) |
R339Q |
probably damaging |
Het |
| Flt3 |
T |
A |
5: 147,293,163 (GRCm39) |
E481V |
probably benign |
Het |
| Gorab |
T |
G |
1: 163,224,705 (GRCm39) |
K32T |
possibly damaging |
Het |
| Mak16 |
G |
A |
8: 31,656,205 (GRCm39) |
Q93* |
probably null |
Het |
| Muc4 |
T |
C |
16: 32,576,217 (GRCm39) |
|
probably benign |
Het |
| Neb |
A |
T |
2: 52,083,249 (GRCm39) |
I5409N |
probably benign |
Het |
| Olfm4 |
C |
T |
14: 80,258,664 (GRCm39) |
S304F |
probably benign |
Het |
| Pask |
A |
G |
1: 93,248,224 (GRCm39) |
F1026L |
probably benign |
Het |
| Rab11a |
A |
G |
9: 64,632,850 (GRCm39) |
S19P |
probably benign |
Het |
| Rab11fip3 |
T |
C |
17: 26,255,631 (GRCm39) |
D541G |
probably damaging |
Het |
| Rnf10 |
T |
C |
5: 115,398,210 (GRCm39) |
S108G |
probably damaging |
Het |
| Rps4l-ps |
C |
T |
7: 114,526,403 (GRCm39) |
|
noncoding transcript |
Het |
| Shank1 |
A |
T |
7: 44,004,014 (GRCm39) |
H1902L |
possibly damaging |
Het |
| Slc8a3 |
T |
C |
12: 81,362,627 (GRCm39) |
Y64C |
probably damaging |
Het |
| Sorbs3 |
A |
C |
14: 70,445,066 (GRCm39) |
I4S |
probably damaging |
Het |
| St18 |
A |
G |
1: 6,925,647 (GRCm39) |
N935S |
probably damaging |
Het |
| Taf4b |
T |
C |
18: 14,954,499 (GRCm39) |
V525A |
probably damaging |
Het |
| Timm10b |
A |
G |
7: 105,332,013 (GRCm39) |
N828S |
probably benign |
Het |
| Ttyh1 |
A |
T |
7: 4,122,763 (GRCm39) |
D4V |
probably damaging |
Het |
| Usp34 |
T |
A |
11: 23,371,257 (GRCm39) |
L53Q |
possibly damaging |
Het |
| Usp5 |
C |
G |
6: 124,799,593 (GRCm39) |
K318N |
possibly damaging |
Het |
| Vmn2r70 |
A |
T |
7: 85,208,787 (GRCm39) |
N563K |
probably damaging |
Het |
| Xrcc5 |
C |
A |
1: 72,351,659 (GRCm39) |
N76K |
probably damaging |
Het |
| Zscan25 |
T |
C |
5: 145,220,268 (GRCm39) |
V21A |
probably damaging |
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGCTCCTGCAGACTCACTTC -3'
(R):5'- AGACTAGCCAATCAGCGTGC -3'
Sequencing Primer
(F):5'- TGCAGACTCACTTCACCCG -3'
(R):5'- ATCAGCGTGCCGAACAG -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation