Incidental Mutation 'R4490:Kpnb1'
| ID |
330690 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kpnb1
|
| Ensembl Gene |
ENSMUSG00000001440 |
| Gene Name |
karyopherin subunit beta 1 |
| Synonyms |
Impnb |
| MMRRC Submission |
041746-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4490 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
97050540-97078707 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 97062424 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 447
(V447A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000001479
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001479]
|
| AlphaFold |
P70168 |
| PDB Structure |
N-TERMINAL FRAGMENT OF IMPORTIN-BETA [X-RAY DIFFRACTION]
Crystal structure of Importin-beta and SREBP-2 complex [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000001479
AA Change: V447A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000001479
Gene: ENSMUSG00000001440
AA Change: V447A
| Domain | Start | End | E-Value | Type |
|---|
|
IBN_N
|
21 |
101 |
3.72e-5 |
SMART |
|
Blast:ARM
|
158 |
203 |
4e-7 |
BLAST |
|
Pfam:HEAT_EZ
|
380 |
435 |
3e-13 |
PFAM |
|
Pfam:HEAT
|
409 |
439 |
2.6e-7 |
PFAM |
|
Blast:ARM
|
440 |
477 |
7e-17 |
BLAST |
|
low complexity region
|
478 |
495 |
N/A |
INTRINSIC |
|
Blast:IBN_N
|
528 |
590 |
9e-25 |
BLAST |
|
Blast:ARM
|
594 |
637 |
1e-18 |
BLAST |
|
Blast:ARM
|
784 |
827 |
1e-5 |
BLAST |
|
| Meta Mutation Damage Score |
0.0691 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
100% (45/45) |
| 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. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2013]
PHENOTYPE: Homozygous mutation of this gene results in lethality shortly after implantation. [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 |
|---|
| Abl2 |
T |
C |
1: 156,461,349 (GRCm39) |
V417A |
probably damaging |
Het |
| Adgrb2 |
T |
C |
4: 129,906,121 (GRCm39) |
V881A |
possibly damaging |
Het |
| Arl5c |
G |
A |
11: 97,886,662 (GRCm39) |
R10* |
probably null |
Het |
| Atad1 |
A |
G |
19: 32,673,197 (GRCm39) |
C229R |
probably benign |
Het |
| Atp6v0a2 |
T |
C |
5: 124,784,674 (GRCm39) |
V319A |
probably damaging |
Het |
| Cage1 |
A |
G |
13: 38,207,393 (GRCm39) |
S257P |
possibly damaging |
Het |
| Ccndbp1 |
A |
G |
2: 120,842,876 (GRCm39) |
D179G |
probably damaging |
Het |
| Cngb3 |
T |
C |
4: 19,415,684 (GRCm39) |
I398T |
probably benign |
Het |
| Crmp1 |
A |
G |
5: 37,433,675 (GRCm39) |
D178G |
probably damaging |
Het |
| Csmd3 |
C |
T |
15: 48,177,429 (GRCm39) |
V370I |
possibly damaging |
Het |
| Dapk1 |
A |
G |
13: 60,865,942 (GRCm39) |
T180A |
probably benign |
Het |
| Dmtf1 |
A |
G |
5: 9,190,379 (GRCm39) |
|
probably benign |
Het |
| Dnah12 |
T |
C |
14: 26,455,758 (GRCm39) |
L827S |
possibly damaging |
Het |
| F5 |
T |
C |
1: 164,044,964 (GRCm39) |
V2084A |
probably benign |
Het |
| Fan1 |
A |
T |
7: 64,018,928 (GRCm39) |
S476T |
possibly damaging |
Het |
| Far2 |
T |
C |
6: 148,074,907 (GRCm39) |
L380P |
possibly damaging |
Het |
| Gbp2 |
A |
G |
3: 142,329,525 (GRCm39) |
N24S |
probably benign |
Het |
| Gm14325 |
T |
C |
2: 177,474,776 (GRCm39) |
H101R |
possibly damaging |
Het |
| Gpr55 |
C |
T |
1: 85,869,540 (GRCm39) |
V14M |
probably damaging |
Het |
| Herc6 |
A |
T |
6: 57,631,480 (GRCm39) |
Y724F |
probably damaging |
Het |
| Impg1 |
T |
A |
9: 80,301,341 (GRCm39) |
Q195L |
probably damaging |
Het |
| Inf2 |
T |
C |
12: 112,566,638 (GRCm39) |
F68L |
probably damaging |
Het |
| Kcnh8 |
T |
C |
17: 53,268,905 (GRCm39) |
|
probably null |
Het |
| Klb |
A |
G |
5: 65,533,137 (GRCm39) |
N482S |
probably benign |
Het |
| Nckap5l |
G |
A |
15: 99,324,011 (GRCm39) |
P831S |
probably benign |
Het |
| Ncor2 |
A |
G |
5: 125,113,879 (GRCm39) |
|
probably null |
Het |
| Or4b1d |
A |
T |
2: 89,969,261 (GRCm39) |
V74D |
probably damaging |
Het |
| Pgm3 |
T |
C |
9: 86,443,893 (GRCm39) |
Y337C |
probably damaging |
Het |
| Prdm1 |
G |
T |
10: 44,322,903 (GRCm39) |
Y197* |
probably null |
Het |
| Prdm4 |
A |
T |
10: 85,736,763 (GRCm39) |
C626S |
probably damaging |
Het |
| Prex2 |
T |
A |
1: 11,232,487 (GRCm39) |
S851R |
probably benign |
Het |
| Ranbp6 |
A |
G |
19: 29,787,733 (GRCm39) |
L873P |
probably damaging |
Het |
| Rin2 |
A |
G |
2: 145,664,194 (GRCm39) |
T23A |
possibly damaging |
Het |
| Rxra |
G |
T |
2: 27,631,207 (GRCm39) |
R118L |
probably damaging |
Het |
| Spice1 |
T |
C |
16: 44,202,476 (GRCm39) |
L750P |
probably damaging |
Het |
| Trpm1 |
C |
T |
7: 63,858,660 (GRCm39) |
Q228* |
probably null |
Het |
| Tsc1 |
A |
G |
2: 28,560,937 (GRCm39) |
D265G |
probably damaging |
Het |
| Usp29 |
T |
C |
7: 6,964,949 (GRCm39) |
I264T |
possibly damaging |
Het |
| Vmn2r26 |
T |
C |
6: 124,027,697 (GRCm39) |
L479P |
possibly damaging |
Het |
| Zfp9 |
A |
G |
6: 118,442,273 (GRCm39) |
S130P |
probably benign |
Het |
|
| Other mutations in Kpnb1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01284:Kpnb1
|
APN |
11 |
97,056,928 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01919:Kpnb1
|
APN |
11 |
97,055,556 (GRCm39) |
missense |
probably benign |
|
|
IGL02161:Kpnb1
|
APN |
11 |
97,059,762 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02679:Kpnb1
|
APN |
11 |
97,068,086 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02866:Kpnb1
|
APN |
11 |
97,068,112 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02899:Kpnb1
|
APN |
11 |
97,066,612 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0373:Kpnb1
|
UTSW |
11 |
97,075,916 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0542:Kpnb1
|
UTSW |
11 |
97,078,398 (GRCm39) |
missense |
probably benign |
0.12 |
|
R0724:Kpnb1
|
UTSW |
11 |
97,069,130 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0825:Kpnb1
|
UTSW |
11 |
97,062,501 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0853:Kpnb1
|
UTSW |
11 |
97,078,237 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1481:Kpnb1
|
UTSW |
11 |
97,069,136 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3802:Kpnb1
|
UTSW |
11 |
97,056,955 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4458:Kpnb1
|
UTSW |
11 |
97,059,996 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4757:Kpnb1
|
UTSW |
11 |
97,068,160 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R5500:Kpnb1
|
UTSW |
11 |
97,063,937 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6360:Kpnb1
|
UTSW |
11 |
97,064,096 (GRCm39) |
missense |
probably benign |
|
|
R6494:Kpnb1
|
UTSW |
11 |
97,072,474 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7678:Kpnb1
|
UTSW |
11 |
97,059,999 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8171:Kpnb1
|
UTSW |
11 |
97,066,573 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8874:Kpnb1
|
UTSW |
11 |
97,056,209 (GRCm39) |
missense |
probably benign |
0.25 |
|
R9318:Kpnb1
|
UTSW |
11 |
97,054,284 (GRCm39) |
missense |
probably benign |
|
|
R9621:Kpnb1
|
UTSW |
11 |
97,058,460 (GRCm39) |
missense |
probably benign |
0.04 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAGCACGCCTTTCAATGAGAC -3'
(R):5'- TCTATCATTATATGGGGCCAGGG -3'
Sequencing Primer
(F):5'- ATGAGACAAGTAACCTTTCTCTCC -3'
(R):5'- TTAGATCCCAAGTGCTGCAG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation