Incidental Mutation 'R2247:Ranbp9'
| ID |
240913 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ranbp9
|
| Ensembl Gene |
ENSMUSG00000038546 |
| Gene Name |
RAN binding protein 9 |
| Synonyms |
RanBPM, IBAP-1 |
| MMRRC Submission |
040247-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.958)
|
| Stock # |
R2247 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
43556151-43634758 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 43565901 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 462
(K462E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152620
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000144326]
[ENSMUST00000222651]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000144326
AA Change: K626E
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000130636
Gene: ENSMUSG00000038546
AA Change: K626E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
114 |
N/A |
INTRINSIC |
|
SPRY
|
194 |
315 |
1.66e-43 |
SMART |
|
LisH
|
347 |
379 |
6.82e-5 |
SMART |
|
CTLH
|
385 |
442 |
9.78e-15 |
SMART |
|
low complexity region
|
455 |
478 |
N/A |
INTRINSIC |
|
CRA
|
596 |
698 |
1.6e-24 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220601
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000221092
AA Change: K20E
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000222651
AA Change: K462E
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| 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 binds RAN, a small GTP binding protein belonging to the RAS superfamily that is essential for the translocation of RNA and proteins through the nuclear pore complex. The protein encoded by this gene has also been shown to interact with several other proteins, including met proto-oncogene, homeodomain interacting protein kinase 2, androgen receptor, and cyclin-dependent kinase 11. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null mutation display partial neonatal lethality. Survivors display infertility with impaired spermatogenesis and oogenesis, azoospermia and premature ovarian failure. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsbg3 |
A |
G |
17: 57,184,435 (GRCm39) |
E70G |
possibly damaging |
Het |
| Ash1l |
C |
A |
3: 88,914,674 (GRCm39) |
P1768Q |
possibly damaging |
Het |
| Bicra |
C |
A |
7: 15,723,159 (GRCm39) |
E119D |
probably benign |
Het |
| Brd2 |
A |
G |
17: 34,333,389 (GRCm39) |
F421L |
probably damaging |
Het |
| Cspp1 |
A |
T |
1: 10,136,685 (GRCm39) |
Q182L |
possibly damaging |
Het |
| Dnah7b |
A |
G |
1: 46,316,223 (GRCm39) |
D3112G |
probably damaging |
Het |
| Dsc2 |
T |
A |
18: 20,168,369 (GRCm39) |
I697F |
probably damaging |
Het |
| Ephb1 |
A |
T |
9: 101,874,010 (GRCm39) |
S555T |
probably damaging |
Het |
| Fat4 |
A |
T |
3: 38,946,198 (GRCm39) |
D1697V |
probably damaging |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Impg2 |
A |
G |
16: 56,088,627 (GRCm39) |
K1160R |
probably damaging |
Het |
| Jak2 |
T |
C |
19: 29,261,036 (GRCm39) |
V344A |
probably benign |
Het |
| Kcnab3 |
A |
G |
11: 69,221,016 (GRCm39) |
T168A |
probably damaging |
Het |
| Kctd18 |
A |
T |
1: 58,006,801 (GRCm39) |
H16Q |
possibly damaging |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| Myh11 |
A |
G |
16: 14,095,423 (GRCm39) |
L113P |
probably damaging |
Het |
| Myh13 |
A |
T |
11: 67,225,384 (GRCm39) |
I250F |
probably damaging |
Het |
| Nin |
T |
C |
12: 70,101,319 (GRCm39) |
Y426C |
probably damaging |
Het |
| Or10ab4 |
C |
T |
7: 107,654,989 (GRCm39) |
R267C |
probably benign |
Het |
| Or51ab3 |
T |
A |
7: 103,201,097 (GRCm39) |
|
probably null |
Het |
| Pbrm1 |
A |
G |
14: 30,796,850 (GRCm39) |
H897R |
probably damaging |
Het |
| Pgap4 |
T |
C |
4: 49,586,209 (GRCm39) |
S320G |
probably benign |
Het |
| Plcl2 |
T |
C |
17: 50,913,873 (GRCm39) |
V294A |
probably damaging |
Het |
| Psapl1 |
A |
G |
5: 36,362,410 (GRCm39) |
E334G |
probably benign |
Het |
| Pwwp3a |
A |
G |
10: 80,076,259 (GRCm39) |
Y483C |
probably damaging |
Het |
| Raly |
A |
G |
2: 154,705,953 (GRCm39) |
H277R |
possibly damaging |
Het |
| Rptn |
A |
G |
3: 93,304,136 (GRCm39) |
T490A |
probably benign |
Het |
| Rtl1 |
T |
C |
12: 109,561,413 (GRCm39) |
H142R |
possibly damaging |
Het |
| Scart2 |
G |
A |
7: 139,829,042 (GRCm39) |
G234S |
probably null |
Het |
| Shisa3 |
G |
A |
5: 67,768,666 (GRCm39) |
V189M |
probably benign |
Het |
| Slc25a36 |
A |
T |
9: 96,982,191 (GRCm39) |
L28Q |
probably damaging |
Het |
| Slc38a8 |
A |
G |
8: 120,212,389 (GRCm39) |
M318T |
probably benign |
Het |
| Slc4a11 |
A |
T |
2: 130,529,721 (GRCm39) |
M328K |
probably benign |
Het |
| Sp2 |
A |
C |
11: 96,852,844 (GRCm39) |
|
probably null |
Het |
| Sult2b1 |
A |
T |
7: 45,384,734 (GRCm39) |
I114N |
probably damaging |
Het |
| Synrg |
T |
C |
11: 83,900,202 (GRCm39) |
S803P |
probably damaging |
Het |
| Tenm4 |
T |
A |
7: 96,555,216 (GRCm39) |
D2603E |
probably benign |
Het |
| Tnfaip8 |
ACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
ACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
18: 50,179,912 (GRCm39) |
|
probably null |
Het |
| Zfp189 |
T |
A |
4: 49,530,393 (GRCm39) |
C499S |
possibly damaging |
Het |
| Zfp236 |
A |
G |
18: 82,622,423 (GRCm39) |
F1621S |
possibly damaging |
Het |
|
| Other mutations in Ranbp9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01287:Ranbp9
|
APN |
13 |
43,633,980 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01478:Ranbp9
|
APN |
13 |
43,567,560 (GRCm39) |
missense |
probably benign |
0.31 |
|
IGL01948:Ranbp9
|
APN |
13 |
43,576,029 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02177:Ranbp9
|
APN |
13 |
43,573,193 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02382:Ranbp9
|
APN |
13 |
43,589,622 (GRCm39) |
splice site |
probably null |
|
|
R0183:Ranbp9
|
UTSW |
13 |
43,578,599 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0401:Ranbp9
|
UTSW |
13 |
43,576,134 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0771:Ranbp9
|
UTSW |
13 |
43,615,249 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1551:Ranbp9
|
UTSW |
13 |
43,578,593 (GRCm39) |
missense |
probably benign |
0.15 |
|
R1644:Ranbp9
|
UTSW |
13 |
43,566,015 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1892:Ranbp9
|
UTSW |
13 |
43,569,933 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R4097:Ranbp9
|
UTSW |
13 |
43,574,733 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4794:Ranbp9
|
UTSW |
13 |
43,567,552 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4908:Ranbp9
|
UTSW |
13 |
43,574,733 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4996:Ranbp9
|
UTSW |
13 |
43,578,570 (GRCm39) |
nonsense |
probably null |
|
|
R5024:Ranbp9
|
UTSW |
13 |
43,588,331 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5422:Ranbp9
|
UTSW |
13 |
43,573,102 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7069:Ranbp9
|
UTSW |
13 |
43,573,098 (GRCm39) |
missense |
probably benign |
0.24 |
|
R7115:Ranbp9
|
UTSW |
13 |
43,560,147 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7298:Ranbp9
|
UTSW |
13 |
43,633,936 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7382:Ranbp9
|
UTSW |
13 |
43,578,590 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7826:Ranbp9
|
UTSW |
13 |
43,573,097 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R8856:Ranbp9
|
UTSW |
13 |
43,567,506 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8914:Ranbp9
|
UTSW |
13 |
43,578,560 (GRCm39) |
missense |
probably benign |
0.33 |
|
R9433:Ranbp9
|
UTSW |
13 |
43,576,041 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9657:Ranbp9
|
UTSW |
13 |
43,557,155 (GRCm39) |
missense |
unknown |
|
|
R9664:Ranbp9
|
UTSW |
13 |
43,578,519 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0024:Ranbp9
|
UTSW |
13 |
43,578,561 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAAAGGCTCTAGTCTGTACTTAGC -3'
(R):5'- TGTCTCATGGCTGCACATGG -3'
Sequencing Primer
(F):5'- GCTCTAGTCTGTACTTAGCCCTATG -3'
(R):5'- ATGTGGTACATGCCTGTAACTCCAG -3'
|
| Posted On |
2014-10-15 |
Incidental Mutation