Incidental Mutation 'IGL01833:Kpna3'
| ID |
154834 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Kpna3
|
| Ensembl Gene |
ENSMUSG00000021929 |
| Gene Name |
karyopherin subunit alpha 3 |
| Synonyms |
importin alpha 4, IPOA4, importin alpha 4 |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.645)
|
| Stock # |
IGL01833
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
61602660-61677323 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 61607894 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 437
(N437S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022496
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022496]
|
| AlphaFold |
O35344 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022496
AA Change: N437S
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000022496
Gene: ENSMUSG00000021929
AA Change: N437S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IBB
|
7 |
93 |
1e-25 |
PFAM |
|
ARM
|
103 |
144 |
9.52e-11 |
SMART |
|
ARM
|
146 |
186 |
2.15e-9 |
SMART |
|
ARM
|
188 |
229 |
8.59e0 |
SMART |
|
ARM
|
232 |
271 |
1.78e-1 |
SMART |
|
ARM
|
273 |
313 |
4.31e-9 |
SMART |
|
ARM
|
315 |
355 |
5.91e-7 |
SMART |
|
ARM
|
357 |
397 |
5.22e-8 |
SMART |
|
ARM
|
400 |
440 |
1.51e-4 |
SMART |
|
Pfam:Arm_3
|
447 |
499 |
5.4e-25 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225207
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The transport of molecules between the nucleus and the cytoplasm in eukaryotic cells is mediated by the nuclear pore complex (NPC), which consists of 60-100 proteins. Small molecules (up to 70 kD) can pass through the nuclear pore by nonselective diffusion while larger molecules are transported by an active process. The protein encoded by this gene belongs to the importin alpha family, and is involved in nuclear protein import. [provided by RefSeq, Jan 2009]
PHENOTYPE: Mice homozygous for a null mutation are viable and fertile. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsbg3 |
A |
G |
17: 57,188,062 (GRCm39) |
N190S |
probably benign |
Het |
| Adamts18 |
T |
A |
8: 114,469,728 (GRCm39) |
Y658F |
probably benign |
Het |
| Camsap3 |
T |
A |
8: 3,658,508 (GRCm39) |
L1151Q |
probably damaging |
Het |
| Casp14 |
T |
A |
10: 78,551,237 (GRCm39) |
Y16F |
probably damaging |
Het |
| Clip2 |
A |
T |
5: 134,526,938 (GRCm39) |
|
probably benign |
Het |
| Clip4 |
G |
A |
17: 72,134,785 (GRCm39) |
|
probably benign |
Het |
| Cyb5r4 |
G |
A |
9: 86,941,505 (GRCm39) |
|
probably null |
Het |
| Ep400 |
A |
T |
5: 110,827,874 (GRCm39) |
N2329K |
unknown |
Het |
| Fam163a |
T |
A |
1: 155,955,742 (GRCm39) |
I17F |
probably damaging |
Het |
| Galnt1 |
T |
A |
18: 24,400,617 (GRCm39) |
I241N |
probably damaging |
Het |
| Galnt14 |
T |
G |
17: 73,811,899 (GRCm39) |
I441L |
probably benign |
Het |
| Gpr45 |
T |
C |
1: 43,071,402 (GRCm39) |
L15P |
probably benign |
Het |
| Hivep1 |
A |
T |
13: 42,308,464 (GRCm39) |
K235* |
probably null |
Het |
| Kcnip2 |
T |
C |
19: 45,782,746 (GRCm39) |
|
probably null |
Het |
| Lmtk2 |
A |
T |
5: 144,112,753 (GRCm39) |
R1158* |
probably null |
Het |
| Lpo |
A |
G |
11: 87,698,159 (GRCm39) |
V612A |
possibly damaging |
Het |
| Myh15 |
T |
C |
16: 48,934,421 (GRCm39) |
C663R |
probably damaging |
Het |
| Nacad |
G |
A |
11: 6,555,700 (GRCm39) |
R17C |
unknown |
Het |
| Or7a35 |
A |
T |
10: 78,853,770 (GRCm39) |
M205L |
probably benign |
Het |
| Pcsk2 |
A |
G |
2: 143,529,500 (GRCm39) |
Q99R |
possibly damaging |
Het |
| Pkd1l2 |
T |
C |
8: 117,787,264 (GRCm39) |
N593S |
probably benign |
Het |
| Plce1 |
G |
A |
19: 38,709,425 (GRCm39) |
S1093N |
probably damaging |
Het |
| Prxl2b |
G |
T |
4: 154,981,059 (GRCm39) |
|
probably benign |
Het |
| Rhpn2 |
T |
A |
7: 35,075,596 (GRCm39) |
Y258N |
probably benign |
Het |
| Serpinb9d |
T |
C |
13: 33,384,688 (GRCm39) |
Y222H |
probably damaging |
Het |
| Shprh |
T |
C |
10: 11,066,806 (GRCm39) |
L1401P |
probably damaging |
Het |
| Slc5a7 |
A |
G |
17: 54,588,861 (GRCm39) |
L262P |
probably damaging |
Het |
| Stat2 |
T |
G |
10: 128,117,045 (GRCm39) |
F293V |
probably benign |
Het |
| Stpg4 |
T |
A |
17: 87,702,585 (GRCm39) |
|
probably null |
Het |
| Styk1 |
G |
T |
6: 131,279,329 (GRCm39) |
|
probably benign |
Het |
| Sult2a2 |
T |
A |
7: 13,468,721 (GRCm39) |
D62E |
probably damaging |
Het |
| Sytl2 |
G |
A |
7: 90,045,745 (GRCm39) |
V632M |
probably damaging |
Het |
| Themis |
C |
T |
10: 28,658,307 (GRCm39) |
Q445* |
probably null |
Het |
| Tmem225 |
A |
T |
9: 40,059,725 (GRCm39) |
E35V |
probably damaging |
Het |
| Vmn1r48 |
T |
A |
6: 90,013,265 (GRCm39) |
T187S |
probably damaging |
Het |
| Xpnpep1 |
A |
G |
19: 52,988,824 (GRCm39) |
Y463H |
probably damaging |
Het |
|
| Other mutations in Kpna3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00226:Kpna3
|
APN |
14 |
61,611,737 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL00321:Kpna3
|
APN |
14 |
61,629,302 (GRCm39) |
splice site |
probably benign |
|
|
IGL01013:Kpna3
|
APN |
14 |
61,607,966 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02661:Kpna3
|
APN |
14 |
61,610,398 (GRCm39) |
splice site |
probably benign |
|
|
IGL03070:Kpna3
|
APN |
14 |
61,608,231 (GRCm39) |
splice site |
probably benign |
|
|
R1428:Kpna3
|
UTSW |
14 |
61,620,669 (GRCm39) |
splice site |
probably benign |
|
|
R1719:Kpna3
|
UTSW |
14 |
61,624,926 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1728:Kpna3
|
UTSW |
14 |
61,605,150 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1760:Kpna3
|
UTSW |
14 |
61,607,990 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1784:Kpna3
|
UTSW |
14 |
61,605,150 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2107:Kpna3
|
UTSW |
14 |
61,607,933 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R4184:Kpna3
|
UTSW |
14 |
61,605,624 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4952:Kpna3
|
UTSW |
14 |
61,607,838 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5081:Kpna3
|
UTSW |
14 |
61,628,694 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5766:Kpna3
|
UTSW |
14 |
61,640,463 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5887:Kpna3
|
UTSW |
14 |
61,640,461 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5927:Kpna3
|
UTSW |
14 |
61,622,096 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7116:Kpna3
|
UTSW |
14 |
61,605,635 (GRCm39) |
missense |
probably benign |
0.32 |
|
R7615:Kpna3
|
UTSW |
14 |
61,610,411 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7674:Kpna3
|
UTSW |
14 |
61,605,086 (GRCm39) |
missense |
probably benign |
|
|
R7799:Kpna3
|
UTSW |
14 |
61,622,182 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8115:Kpna3
|
UTSW |
14 |
61,608,367 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8239:Kpna3
|
UTSW |
14 |
61,624,919 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8896:Kpna3
|
UTSW |
14 |
61,629,294 (GRCm39) |
missense |
probably benign |
0.11 |
|
R9636:Kpna3
|
UTSW |
14 |
61,624,903 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-02-04 |
Incidental Mutation