Incidental Mutation 'IGL00423:Rangap1'
| ID |
4069 |
| 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 # |
IGL00423
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
81588449-81614120 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 81606194 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 49
(D49G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155851
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052374]
[ENSMUST00000170134]
[ENSMUST00000171115]
[ENSMUST00000230302]
[ENSMUST00000230726]
|
| AlphaFold |
P46061 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000052374
AA Change: D49G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000057771
Gene: ENSMUSG00000022391
AA Change: D49G
| 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
AA Change: D49G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000126849
Gene: ENSMUSG00000022391
AA Change: D49G
| 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
AA Change: D49G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000130046
Gene: ENSMUSG00000022391
AA Change: D49G
| 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: ENSMUST00000230287
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230302
AA Change: D49G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230726
AA Change: D49G
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acan |
A |
G |
7: 78,747,572 (GRCm39) |
E781G |
probably benign |
Het |
| Acp7 |
T |
C |
7: 28,314,122 (GRCm39) |
T358A |
possibly damaging |
Het |
| Adamtsl2 |
C |
A |
2: 26,975,100 (GRCm39) |
T199K |
probably damaging |
Het |
| Ap4e1 |
T |
A |
2: 126,870,209 (GRCm39) |
S179T |
probably damaging |
Het |
| BC048671 |
A |
G |
6: 90,280,200 (GRCm39) |
T39A |
probably benign |
Het |
| Cfap20dc |
G |
A |
14: 8,473,370 (GRCm38) |
P600S |
possibly damaging |
Het |
| Cnr1 |
G |
A |
4: 33,944,116 (GRCm39) |
S168N |
probably damaging |
Het |
| Cp |
T |
C |
3: 20,039,826 (GRCm39) |
V881A |
possibly damaging |
Het |
| Cyp4x1 |
T |
C |
4: 114,979,145 (GRCm39) |
T151A |
probably benign |
Het |
| Drd2 |
T |
C |
9: 49,307,058 (GRCm39) |
I48T |
probably damaging |
Het |
| Gemin5 |
A |
T |
11: 58,054,643 (GRCm39) |
I253N |
probably damaging |
Het |
| Herc3 |
T |
A |
6: 58,845,700 (GRCm39) |
I407K |
probably damaging |
Het |
| Ighmbp2 |
G |
T |
19: 3,318,704 (GRCm39) |
H457Q |
probably benign |
Het |
| Mboat1 |
A |
G |
13: 30,379,776 (GRCm39) |
|
probably benign |
Het |
| Myh2 |
T |
C |
11: 67,088,171 (GRCm39) |
V1929A |
probably benign |
Het |
| Nucb2 |
T |
A |
7: 116,121,066 (GRCm39) |
|
probably benign |
Het |
| Pcsk5 |
T |
C |
19: 17,619,923 (GRCm39) |
N383S |
probably benign |
Het |
| Pde1a |
A |
G |
2: 79,696,014 (GRCm39) |
L443P |
probably damaging |
Het |
| Prph2 |
A |
T |
17: 47,230,704 (GRCm39) |
N199I |
probably damaging |
Het |
| Rab27b |
A |
G |
18: 70,129,138 (GRCm39) |
|
probably null |
Het |
| Ranbp3 |
G |
A |
17: 57,016,238 (GRCm39) |
D336N |
probably damaging |
Het |
| Rasa3 |
G |
A |
8: 13,645,410 (GRCm39) |
|
probably benign |
Het |
| Serpina6 |
T |
A |
12: 103,618,162 (GRCm39) |
N217I |
probably damaging |
Het |
| Sorbs2 |
A |
G |
8: 46,252,743 (GRCm39) |
|
probably null |
Het |
| Spire1 |
A |
G |
18: 67,662,085 (GRCm39) |
V116A |
probably damaging |
Het |
| Tdrd1 |
T |
C |
19: 56,839,896 (GRCm39) |
V652A |
possibly damaging |
Het |
| Tmprss11g |
T |
C |
5: 86,640,050 (GRCm39) |
E193G |
probably benign |
Het |
| Zfp451 |
A |
T |
1: 33,816,660 (GRCm39) |
V213D |
probably benign |
Het |
|
| Other mutations in Rangap1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01080:Rangap1
|
APN |
15 |
81,589,953 (GRCm39) |
splice site |
probably benign |
|
|
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 |
2012-04-20 |
Incidental Mutation