Incidental Mutation 'IGL01080:Rangap1'
| ID |
52776 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rangap1
|
| Ensembl Gene |
ENSMUSG00000022391 |
| Gene Name |
RAN GTPase activating protein 1 |
| Synonyms |
Fug1 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01080
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
81588449-81614120 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to T
at 81589953 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130046
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052374]
[ENSMUST00000170134]
[ENSMUST00000171115]
|
| AlphaFold |
P46061 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000052374
|
| SMART Domains |
Protein: ENSMUSP00000057771
Gene: ENSMUSG00000022391
| Domain | Start | End | E-Value | Type |
|---|
|
LRR
|
48 |
75 |
3.34e-2 |
SMART |
|
LRR
|
111 |
138 |
4.79e-3 |
SMART |
|
LRR
|
141 |
168 |
8.34e-3 |
SMART |
|
Blast:LRR
|
179 |
206 |
6e-8 |
BLAST |
|
LRR
|
207 |
234 |
9.24e1 |
SMART |
|
LRR
|
235 |
262 |
1.13e-4 |
SMART |
|
LRR
|
263 |
290 |
8.37e1 |
SMART |
|
LRR
|
292 |
319 |
4.74e0 |
SMART |
|
LRR
|
320 |
347 |
3.21e-4 |
SMART |
|
low complexity region
|
359 |
399 |
N/A |
INTRINSIC |
|
Pfam:RanGAP1_C
|
407 |
587 |
5.9e-79 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170134
|
| SMART Domains |
Protein: ENSMUSP00000126849
Gene: ENSMUSG00000022391
| Domain | Start | End | E-Value | Type |
|---|
|
LRR
|
48 |
75 |
3.34e-2 |
SMART |
|
LRR
|
111 |
138 |
4.79e-3 |
SMART |
|
LRR
|
141 |
168 |
8.34e-3 |
SMART |
|
Blast:LRR
|
179 |
206 |
6e-8 |
BLAST |
|
LRR
|
207 |
234 |
9.24e1 |
SMART |
|
LRR
|
235 |
262 |
1.13e-4 |
SMART |
|
LRR
|
263 |
290 |
8.37e1 |
SMART |
|
LRR
|
292 |
319 |
4.74e0 |
SMART |
|
LRR
|
320 |
347 |
3.21e-4 |
SMART |
|
low complexity region
|
359 |
399 |
N/A |
INTRINSIC |
|
Pfam:RanGAP1_C
|
406 |
588 |
7.4e-92 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171115
|
| SMART Domains |
Protein: ENSMUSP00000130046
Gene: ENSMUSG00000022391
| Domain | Start | End | E-Value | Type |
|---|
|
LRR
|
48 |
75 |
3.34e-2 |
SMART |
|
LRR
|
111 |
138 |
4.79e-3 |
SMART |
|
LRR
|
141 |
168 |
8.34e-3 |
SMART |
|
Blast:LRR
|
179 |
206 |
6e-8 |
BLAST |
|
LRR
|
207 |
234 |
9.24e1 |
SMART |
|
LRR
|
235 |
262 |
1.13e-4 |
SMART |
|
LRR
|
263 |
290 |
8.37e1 |
SMART |
|
LRR
|
292 |
319 |
4.74e0 |
SMART |
|
LRR
|
320 |
347 |
3.21e-4 |
SMART |
|
low complexity region
|
359 |
399 |
N/A |
INTRINSIC |
|
Pfam:RanGAP1_C
|
406 |
588 |
7.4e-92 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229705
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that associates with the nuclear pore complex and participates in the regulation of nuclear transport. The encoded protein interacts with Ras-related nuclear protein 1 (RAN) and regulates guanosine triphosphate (GTP)-binding and exchange. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
PHENOTYPE: Homozygous mutation of this gene results in embryo arrest at the egg cylinder stage and lethality by E8.5. The appearance of the proamniotic cavity is delayed and epiblast cells surrounding the cavity are disorganized. Mesoderm and placental development is impaired. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb4 |
A |
T |
5: 8,984,258 (GRCm39) |
R663W |
probably damaging |
Het |
| Cacng5 |
A |
T |
11: 107,768,754 (GRCm39) |
F179L |
probably damaging |
Het |
| Cacng5 |
C |
T |
11: 107,772,531 (GRCm39) |
V106I |
probably benign |
Het |
| Cd96 |
T |
C |
16: 45,870,056 (GRCm39) |
E471G |
possibly damaging |
Het |
| Cpt1c |
T |
C |
7: 44,610,333 (GRCm39) |
D621G |
probably damaging |
Het |
| Csmd3 |
T |
C |
15: 47,744,799 (GRCm39) |
I1503V |
probably benign |
Het |
| Dmgdh |
T |
C |
13: 93,840,286 (GRCm39) |
|
probably benign |
Het |
| Flg |
A |
T |
3: 93,186,906 (GRCm39) |
K119N |
probably benign |
Het |
| Gale |
T |
C |
4: 135,693,389 (GRCm39) |
Y104H |
probably damaging |
Het |
| Gm8005 |
T |
C |
14: 42,258,971 (GRCm39) |
D119G |
unknown |
Het |
| Gstk1 |
A |
T |
6: 42,223,560 (GRCm39) |
D50V |
possibly damaging |
Het |
| Kmt2a |
T |
C |
9: 44,720,389 (GRCm39) |
D3866G |
unknown |
Het |
| Mastl |
A |
G |
2: 23,036,160 (GRCm39) |
S119P |
probably damaging |
Het |
| Or2aj4 |
A |
T |
16: 19,384,958 (GRCm39) |
V225E |
probably damaging |
Het |
| Phf11c |
G |
A |
14: 59,630,648 (GRCm39) |
T19I |
probably benign |
Het |
| Ppp1r16b |
A |
G |
2: 158,599,092 (GRCm39) |
T355A |
probably damaging |
Het |
| Prmt7 |
T |
G |
8: 106,963,846 (GRCm39) |
|
probably benign |
Het |
| Rad50 |
T |
C |
11: 53,596,895 (GRCm39) |
T44A |
probably damaging |
Het |
| Slc27a3 |
A |
T |
3: 90,292,767 (GRCm39) |
V634E |
probably benign |
Het |
| Tbxas1 |
T |
A |
6: 38,998,115 (GRCm39) |
L228I |
probably damaging |
Het |
| Tnfaip3 |
T |
C |
10: 18,887,403 (GRCm39) |
K41E |
probably benign |
Het |
| Tti1 |
C |
T |
2: 157,824,379 (GRCm39) |
V1025I |
probably damaging |
Het |
| Tyrobp |
T |
C |
7: 30,116,841 (GRCm39) |
|
probably null |
Het |
| Wfdc16 |
A |
T |
2: 164,480,406 (GRCm39) |
W30R |
probably damaging |
Het |
| Zyg11b |
A |
T |
4: 108,094,613 (GRCm39) |
L657Q |
probably damaging |
Het |
|
| Other mutations in Rangap1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00423:Rangap1
|
APN |
15 |
81,606,194 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL01608:Rangap1
|
APN |
15 |
81,593,705 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01939:Rangap1
|
APN |
15 |
81,604,864 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL03163:Rangap1
|
APN |
15 |
81,600,801 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0413:Rangap1
|
UTSW |
15 |
81,600,876 (GRCm39) |
frame shift |
probably null |
|
|
R0423:Rangap1
|
UTSW |
15 |
81,589,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0843:Rangap1
|
UTSW |
15 |
81,594,703 (GRCm39) |
missense |
probably benign |
|
|
R1960:Rangap1
|
UTSW |
15 |
81,590,704 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3687:Rangap1
|
UTSW |
15 |
81,602,963 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R3688:Rangap1
|
UTSW |
15 |
81,602,963 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R3713:Rangap1
|
UTSW |
15 |
81,594,661 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3715:Rangap1
|
UTSW |
15 |
81,594,661 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4727:Rangap1
|
UTSW |
15 |
81,613,956 (GRCm39) |
intron |
probably benign |
|
|
R4755:Rangap1
|
UTSW |
15 |
81,597,118 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5051:Rangap1
|
UTSW |
15 |
81,594,664 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5088:Rangap1
|
UTSW |
15 |
81,594,664 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5089:Rangap1
|
UTSW |
15 |
81,594,664 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5374:Rangap1
|
UTSW |
15 |
81,590,695 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5391:Rangap1
|
UTSW |
15 |
81,590,647 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5395:Rangap1
|
UTSW |
15 |
81,590,647 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6439:Rangap1
|
UTSW |
15 |
81,596,336 (GRCm39) |
missense |
probably benign |
|
|
R8083:Rangap1
|
UTSW |
15 |
81,603,101 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8161:Rangap1
|
UTSW |
15 |
81,594,696 (GRCm39) |
missense |
probably benign |
0.19 |
|
R8864:Rangap1
|
UTSW |
15 |
81,610,270 (GRCm39) |
intron |
probably benign |
|
|
R9320:Rangap1
|
UTSW |
15 |
81,606,221 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9673:Rangap1
|
UTSW |
15 |
81,590,637 (GRCm39) |
missense |
probably benign |
0.31 |
|
| Posted On |
2013-06-21 |
Incidental Mutation