Incidental Mutation 'R0559:Ipo5'
| ID |
45805 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ipo5
|
| Ensembl Gene |
ENSMUSG00000030662 |
| Gene Name |
importin 5 |
| Synonyms |
1110011C18Rik, RanBP5, Kpnb3, importin beta 3, IMB3, 5730478E03Rik |
| MMRRC Submission |
038751-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.928)
|
| Stock # |
R0559 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
121148636-121185411 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 121176053 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 626
(V626A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032898
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032898]
|
| AlphaFold |
Q8BKC5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032898
AA Change: V626A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000032898
Gene: ENSMUSG00000030662
AA Change: V626A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
65 |
72 |
N/A |
INTRINSIC |
|
Pfam:HEAT_2
|
359 |
467 |
3.3e-13 |
PFAM |
|
Pfam:HEAT_EZ
|
372 |
426 |
3.7e-10 |
PFAM |
|
Pfam:Vac14_Fab1_bd
|
373 |
430 |
3.8e-9 |
PFAM |
|
Pfam:HEAT
|
400 |
430 |
4.2e-7 |
PFAM |
|
Pfam:HEAT
|
906 |
936 |
4.2e-6 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228277
|
| Meta Mutation Damage Score |
0.6290 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.5%
|
| Validation Efficiency |
97% (34/35) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Nucleocytoplasmic transport, a signal- and energy-dependent process, takes place through nuclear pore complexes embedded in the nuclear envelope. The import of proteins containing a nuclear localization signal (NLS) requires the NLS import receptor, a heterodimer of importin alpha and beta subunits also known as karyopherins. Importin alpha binds the NLS-containing cargo in the cytoplasm and importin beta docks the complex at the cytoplasmic side of the nuclear pore complex. In the presence of nucleoside triphosphates and the small GTP binding protein Ran, the complex moves into the nuclear pore complex and the importin subunits dissociate. Importin alpha enters the nucleoplasm with its passenger protein and importin beta remains at the pore. Interactions between importin beta and the FG repeats of nucleoporins are essential in translocation through the pore complex. The protein encoded by this gene is a member of the importin beta family. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
All alleles(33) : Targeted, other(2) Gene trapped(31) |
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
A |
T |
5: 8,748,535 (GRCm39) |
I289F |
probably benign |
Het |
| Adam15 |
G |
A |
3: 89,251,085 (GRCm39) |
A540V |
probably damaging |
Het |
| Adat1 |
T |
C |
8: 112,709,062 (GRCm39) |
T254A |
probably damaging |
Het |
| Agtpbp1 |
A |
G |
13: 59,644,814 (GRCm39) |
V684A |
probably benign |
Het |
| Ahi1 |
A |
G |
10: 20,876,618 (GRCm39) |
|
probably benign |
Het |
| Arl5b |
T |
C |
2: 15,077,998 (GRCm39) |
Y108H |
probably damaging |
Het |
| Cep85l |
A |
G |
10: 53,224,597 (GRCm39) |
F331L |
probably benign |
Het |
| Ctnna2 |
T |
C |
6: 76,892,833 (GRCm39) |
K785E |
probably damaging |
Het |
| Dgkd |
T |
A |
1: 87,842,826 (GRCm39) |
I118N |
probably damaging |
Het |
| Dicer1 |
G |
A |
12: 104,672,560 (GRCm39) |
R896W |
probably damaging |
Het |
| Eif1ad19 |
T |
A |
12: 87,740,223 (GRCm39) |
H112L |
probably benign |
Het |
| Fbxl19 |
G |
T |
7: 127,349,390 (GRCm39) |
W160L |
possibly damaging |
Het |
| H1f8 |
T |
C |
6: 115,924,760 (GRCm39) |
Y89H |
probably damaging |
Het |
| Isx |
A |
G |
8: 75,600,369 (GRCm39) |
K34R |
probably benign |
Het |
| Myh6 |
T |
C |
14: 55,196,011 (GRCm39) |
E596G |
probably benign |
Het |
| Olfml2a |
T |
C |
2: 38,849,832 (GRCm39) |
I516T |
probably damaging |
Het |
| Or14j5 |
C |
T |
17: 38,161,746 (GRCm39) |
R88* |
probably null |
Het |
| Or5w12 |
T |
G |
2: 87,502,244 (GRCm39) |
T156P |
possibly damaging |
Het |
| Or8b37 |
G |
T |
9: 37,959,123 (GRCm39) |
V202L |
probably benign |
Het |
| Parp9 |
T |
C |
16: 35,768,362 (GRCm39) |
F181L |
probably benign |
Het |
| Pkdcc |
G |
A |
17: 83,523,454 (GRCm39) |
G187D |
probably benign |
Het |
| Plekhh3 |
C |
T |
11: 101,055,592 (GRCm39) |
E483K |
possibly damaging |
Het |
| Ptx4 |
C |
T |
17: 25,342,082 (GRCm39) |
Q186* |
probably null |
Het |
| Qsox2 |
T |
A |
2: 26,104,169 (GRCm39) |
H287L |
probably benign |
Het |
| Rev3l |
G |
A |
10: 39,700,483 (GRCm39) |
G1660D |
probably damaging |
Het |
| Scamp1 |
G |
T |
13: 94,344,690 (GRCm39) |
A217E |
possibly damaging |
Het |
| Slc5a9 |
T |
C |
4: 111,742,779 (GRCm39) |
I438V |
probably benign |
Het |
| Sort1 |
T |
C |
3: 108,263,895 (GRCm39) |
F818S |
probably damaging |
Het |
| Srl |
G |
A |
16: 4,314,842 (GRCm39) |
P267S |
probably benign |
Het |
| Tbc1d1 |
T |
C |
5: 64,331,136 (GRCm39) |
I105T |
probably damaging |
Het |
| Tifab |
A |
G |
13: 56,324,060 (GRCm39) |
Y128H |
probably benign |
Het |
| Trp53bp1 |
A |
T |
2: 121,058,282 (GRCm39) |
S907T |
probably damaging |
Het |
| Ubr1 |
G |
A |
2: 120,778,364 (GRCm39) |
R225* |
probably null |
Het |
| Upk3bl |
A |
G |
5: 136,086,330 (GRCm39) |
T89A |
probably benign |
Het |
| Vars1 |
T |
A |
17: 35,233,034 (GRCm39) |
C916* |
probably null |
Het |
| Ywhaz |
T |
C |
15: 36,791,208 (GRCm39) |
E5G |
possibly damaging |
Het |
| Zfp91 |
T |
C |
19: 12,747,419 (GRCm39) |
D568G |
probably damaging |
Het |
| Zgpat |
T |
C |
2: 181,021,985 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Ipo5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01461:Ipo5
|
APN |
14 |
121,165,945 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01614:Ipo5
|
APN |
14 |
121,172,507 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01835:Ipo5
|
APN |
14 |
121,163,650 (GRCm39) |
missense |
probably benign |
0.24 |
|
IGL02010:Ipo5
|
APN |
14 |
121,170,789 (GRCm39) |
missense |
probably benign |
0.20 |
|
IGL02303:Ipo5
|
APN |
14 |
121,154,795 (GRCm39) |
missense |
probably benign |
|
|
IGL02344:Ipo5
|
APN |
14 |
121,180,191 (GRCm39) |
splice site |
probably benign |
|
|
IGL02657:Ipo5
|
APN |
14 |
121,181,212 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
IGL03094:Ipo5
|
APN |
14 |
121,181,089 (GRCm39) |
splice site |
probably benign |
|
|
IGL03158:Ipo5
|
APN |
14 |
121,179,303 (GRCm39) |
splice site |
probably benign |
|
|
IGL03309:Ipo5
|
APN |
14 |
121,157,416 (GRCm39) |
missense |
probably benign |
|
|
IGL03392:Ipo5
|
APN |
14 |
121,180,099 (GRCm39) |
missense |
probably damaging |
0.99 |
|
3-1:Ipo5
|
UTSW |
14 |
121,170,348 (GRCm39) |
missense |
probably benign |
0.41 |
|
PIT4544001:Ipo5
|
UTSW |
14 |
121,165,949 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0326:Ipo5
|
UTSW |
14 |
121,159,635 (GRCm39) |
missense |
probably benign |
0.19 |
|
R0505:Ipo5
|
UTSW |
14 |
121,180,145 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R0590:Ipo5
|
UTSW |
14 |
121,181,769 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R0969:Ipo5
|
UTSW |
14 |
121,181,937 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R1450:Ipo5
|
UTSW |
14 |
121,181,805 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1672:Ipo5
|
UTSW |
14 |
121,170,714 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2471:Ipo5
|
UTSW |
14 |
121,159,574 (GRCm39) |
missense |
probably benign |
0.12 |
|
R3508:Ipo5
|
UTSW |
14 |
121,176,956 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3696:Ipo5
|
UTSW |
14 |
121,159,574 (GRCm39) |
missense |
probably benign |
0.12 |
|
R4118:Ipo5
|
UTSW |
14 |
121,176,073 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4418:Ipo5
|
UTSW |
14 |
121,181,305 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4760:Ipo5
|
UTSW |
14 |
121,179,054 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4839:Ipo5
|
UTSW |
14 |
121,157,450 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4913:Ipo5
|
UTSW |
14 |
121,172,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5326:Ipo5
|
UTSW |
14 |
121,163,683 (GRCm39) |
missense |
probably benign |
|
|
R5339:Ipo5
|
UTSW |
14 |
121,181,122 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5483:Ipo5
|
UTSW |
14 |
121,157,450 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5542:Ipo5
|
UTSW |
14 |
121,163,683 (GRCm39) |
missense |
probably benign |
|
|
R5579:Ipo5
|
UTSW |
14 |
121,176,025 (GRCm39) |
missense |
probably benign |
0.26 |
|
R5954:Ipo5
|
UTSW |
14 |
121,157,396 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6948:Ipo5
|
UTSW |
14 |
121,160,527 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7365:Ipo5
|
UTSW |
14 |
121,157,497 (GRCm39) |
missense |
probably benign |
|
|
R7563:Ipo5
|
UTSW |
14 |
121,183,567 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7782:Ipo5
|
UTSW |
14 |
121,170,537 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7911:Ipo5
|
UTSW |
14 |
121,167,051 (GRCm39) |
splice site |
probably null |
|
|
R8222:Ipo5
|
UTSW |
14 |
121,157,414 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8238:Ipo5
|
UTSW |
14 |
121,172,652 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8483:Ipo5
|
UTSW |
14 |
121,183,560 (GRCm39) |
missense |
probably benign |
|
|
R8826:Ipo5
|
UTSW |
14 |
121,157,366 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9042:Ipo5
|
UTSW |
14 |
121,160,547 (GRCm39) |
missense |
probably benign |
0.01 |
|
W0251:Ipo5
|
UTSW |
14 |
121,176,197 (GRCm39) |
missense |
probably benign |
0.17 |
|
X0062:Ipo5
|
UTSW |
14 |
121,179,083 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Predicted Primers |
PCR Primer
(F):5'- GATAGAGCCACAGTGCCTGAAACC -3'
(R):5'- TCTCCATGTCCTGGGCTAGTAACC -3'
Sequencing Primer
(F):5'- AGTGCCTGAAACCTGTCC -3'
(R):5'- TCCTGGGCTAGTAACCAGAGAC -3'
|
| Posted On |
2013-06-11 |
Incidental Mutation