Incidental Mutation 'IGL03163:Rangap1'
ID |
411503 |
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 # |
IGL03163
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
81588449-81614120 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 81600801 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 194
(N194K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000130046
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052374]
[ENSMUST00000170134]
[ENSMUST00000171115]
[ENSMUST00000230302]
[ENSMUST00000230726]
|
AlphaFold |
P46061 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000052374
AA Change: N194K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000057771 Gene: ENSMUSG00000022391 AA Change: N194K
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 damaging
Transcript: ENSMUST00000170134
AA Change: N194K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000126849 Gene: ENSMUSG00000022391 AA Change: N194K
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 damaging
Transcript: ENSMUST00000171115
AA Change: N194K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000130046 Gene: ENSMUSG00000022391 AA Change: N194K
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 damaging
Transcript: ENSMUST00000230302
AA Change: N194K
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000230726
|
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actn1 |
T |
A |
12: 80,228,191 (GRCm39) |
D393V |
probably benign |
Het |
Amz2 |
C |
A |
11: 109,319,751 (GRCm39) |
Q46K |
probably benign |
Het |
Ankhd1 |
G |
A |
18: 36,780,681 (GRCm39) |
R1911H |
probably damaging |
Het |
Apba3 |
A |
G |
10: 81,105,057 (GRCm39) |
|
probably null |
Het |
Atxn1l |
T |
C |
8: 110,459,017 (GRCm39) |
N415S |
probably damaging |
Het |
Clu |
C |
T |
14: 66,217,235 (GRCm39) |
S356F |
probably benign |
Het |
Cluh |
T |
C |
11: 74,556,894 (GRCm39) |
V1029A |
probably benign |
Het |
Creb3 |
C |
T |
4: 43,566,315 (GRCm39) |
L274F |
probably damaging |
Het |
Dcaf8 |
T |
C |
1: 172,000,475 (GRCm39) |
V211A |
probably damaging |
Het |
Emilin3 |
G |
A |
2: 160,750,649 (GRCm39) |
Q320* |
probably null |
Het |
Fam131c |
T |
C |
4: 141,110,069 (GRCm39) |
F156L |
probably damaging |
Het |
Fbxw21 |
T |
A |
9: 108,974,552 (GRCm39) |
I323F |
probably benign |
Het |
Fmo9 |
A |
G |
1: 166,502,019 (GRCm39) |
V202A |
possibly damaging |
Het |
Gipr |
C |
T |
7: 18,896,481 (GRCm39) |
W205* |
probably null |
Het |
Gm13941 |
A |
T |
2: 110,928,761 (GRCm39) |
I99K |
unknown |
Het |
Gpr22 |
A |
T |
12: 31,759,171 (GRCm39) |
V317E |
possibly damaging |
Het |
Hace1 |
T |
C |
10: 45,548,701 (GRCm39) |
I582T |
probably damaging |
Het |
Iho1 |
G |
T |
9: 108,282,132 (GRCm39) |
L519I |
probably benign |
Het |
Khdrbs1 |
T |
C |
4: 129,619,508 (GRCm39) |
E211G |
probably benign |
Het |
Lonrf1 |
T |
C |
8: 36,697,484 (GRCm39) |
D500G |
probably benign |
Het |
Lrp2 |
A |
C |
2: 69,331,870 (GRCm39) |
Y1628* |
probably null |
Het |
Lrrc40 |
T |
C |
3: 157,747,224 (GRCm39) |
I112T |
possibly damaging |
Het |
Matr3 |
G |
A |
18: 35,705,644 (GRCm39) |
D190N |
probably damaging |
Het |
Or8c16 |
T |
C |
9: 38,130,710 (GRCm39) |
V194A |
probably benign |
Het |
Ptpn13 |
A |
T |
5: 103,739,212 (GRCm39) |
D2326V |
probably damaging |
Het |
Ptpn3 |
T |
C |
4: 57,222,020 (GRCm39) |
D557G |
probably damaging |
Het |
Rasgef1c |
T |
C |
11: 49,862,200 (GRCm39) |
V363A |
possibly damaging |
Het |
Ric8b |
A |
G |
10: 84,837,686 (GRCm39) |
N498D |
probably damaging |
Het |
Scn1a |
A |
C |
2: 66,148,418 (GRCm39) |
D22E |
probably benign |
Het |
Spc25 |
T |
G |
2: 69,027,548 (GRCm39) |
I115L |
probably damaging |
Het |
Sspo |
A |
G |
6: 48,461,266 (GRCm39) |
H3569R |
probably benign |
Het |
Stra6l |
T |
C |
4: 45,881,455 (GRCm39) |
I439T |
probably benign |
Het |
Trappc12 |
G |
T |
12: 28,796,653 (GRCm39) |
P293Q |
probably damaging |
Het |
Trcg1 |
T |
C |
9: 57,155,630 (GRCm39) |
L761P |
possibly damaging |
Het |
Usp15 |
A |
C |
10: 123,007,049 (GRCm39) |
M144R |
probably damaging |
Het |
Vmn2r11 |
T |
C |
5: 109,201,692 (GRCm39) |
I271V |
probably benign |
Het |
Zcchc2 |
T |
C |
1: 105,958,841 (GRCm39) |
V1104A |
probably damaging |
Het |
Zftraf1 |
A |
T |
15: 76,543,474 (GRCm39) |
L13Q |
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 |
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 |
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 |
2016-08-02 |