Incidental Mutation 'IGL02412:Kpna1'
| ID |
294387 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Kpna1
|
| Ensembl Gene |
ENSMUSG00000022905 |
| Gene Name |
karyopherin subunit alpha 1 |
| Synonyms |
NPI1, importin alpha 5, mSRP1, m-importin-alpha-S1, Rch2 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.477)
|
| Stock # |
IGL02412
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
35803693-35859479 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 35851561 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 382
(F382L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000004054
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004054]
[ENSMUST00000172534]
[ENSMUST00000173696]
|
| AlphaFold |
Q60960 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000004054
AA Change: F382L
PolyPhen 2
Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000004054
Gene: ENSMUSG00000022905
AA Change: F382L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IBB
|
6 |
104 |
1.3e-27 |
PFAM |
|
ARM
|
115 |
156 |
1.47e-2 |
SMART |
|
ARM
|
158 |
198 |
2.51e-10 |
SMART |
|
ARM
|
200 |
241 |
7.16e-6 |
SMART |
|
ARM
|
244 |
283 |
2.22e1 |
SMART |
|
ARM
|
285 |
325 |
1.45e-6 |
SMART |
|
ARM
|
327 |
367 |
1.12e-7 |
SMART |
|
ARM
|
369 |
409 |
1.76e-5 |
SMART |
|
ARM
|
412 |
452 |
2.91e-6 |
SMART |
|
Pfam:Arm_3
|
466 |
516 |
6e-26 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172534
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173469
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173641
|
| SMART Domains |
Protein: ENSMUSP00000133664
Gene: ENSMUSG00000022905
| Domain | Start | End | E-Value | Type |
|---|
|
ARM
|
16 |
57 |
7.16e-6 |
SMART |
|
ARM
|
60 |
99 |
2.22e1 |
SMART |
|
ARM
|
117 |
157 |
6.39e-3 |
SMART |
|
Pfam:Arm_3
|
171 |
221 |
1.9e-26 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173696
|
| SMART Domains |
Protein: ENSMUSP00000134534
Gene: ENSMUSG00000022905
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IBB
|
2 |
105 |
9.3e-31 |
PFAM |
|
Blast:ARM
|
114 |
149 |
1e-14 |
BLAST |
|
| 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. This protein interacts with the recombination activating gene 1 (RAG1) protein and is a putative substrate of the RAG1 ubiquitin ligase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]
PHENOTYPE: Mice homozygous for a gene trap allele do not display any nervous system or behavioral abnormalities. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alms1 |
T |
A |
6: 85,605,854 (GRCm39) |
F2032L |
possibly damaging |
Het |
| Caps2 |
T |
C |
10: 112,039,941 (GRCm39) |
|
probably null |
Het |
| Ccdc88b |
A |
T |
19: 6,824,012 (GRCm39) |
F1414I |
probably damaging |
Het |
| Cr1l |
T |
G |
1: 194,797,080 (GRCm39) |
Y319S |
probably damaging |
Het |
| Cr1l |
C |
T |
1: 194,797,074 (GRCm39) |
G283E |
probably damaging |
Het |
| Csmd2 |
G |
A |
4: 128,407,165 (GRCm39) |
|
probably benign |
Het |
| Dhx37 |
T |
A |
5: 125,508,692 (GRCm39) |
K81M |
probably damaging |
Het |
| Dzip3 |
T |
A |
16: 48,778,820 (GRCm39) |
M326L |
probably benign |
Het |
| Exosc10 |
A |
G |
4: 148,652,849 (GRCm39) |
D488G |
probably benign |
Het |
| Gm2058 |
G |
A |
7: 39,238,457 (GRCm39) |
|
noncoding transcript |
Het |
| Gm43638 |
T |
A |
5: 87,633,995 (GRCm39) |
Q204L |
possibly damaging |
Het |
| Gm4847 |
T |
C |
1: 166,469,307 (GRCm39) |
D119G |
probably damaging |
Het |
| Gnb3 |
A |
C |
6: 124,814,425 (GRCm39) |
M120R |
probably benign |
Het |
| Il16 |
A |
C |
7: 83,301,899 (GRCm39) |
D74E |
probably benign |
Het |
| Krt33a |
G |
T |
11: 99,902,805 (GRCm39) |
Q340K |
probably benign |
Het |
| Lrrc17 |
T |
A |
5: 21,765,877 (GRCm39) |
S120T |
possibly damaging |
Het |
| Mapk3 |
C |
A |
7: 126,362,210 (GRCm39) |
Y56* |
probably null |
Het |
| Mfhas1 |
C |
T |
8: 36,055,969 (GRCm39) |
A148V |
probably benign |
Het |
| Npr2 |
A |
G |
4: 43,647,005 (GRCm39) |
I713V |
probably damaging |
Het |
| Obp1a |
T |
A |
X: 77,131,980 (GRCm39) |
Y108F |
probably damaging |
Het |
| Or51f1d |
A |
T |
7: 102,701,359 (GRCm39) |
M285L |
probably benign |
Het |
| Or5ac21 |
T |
A |
16: 59,123,555 (GRCm39) |
L13H |
probably damaging |
Het |
| Or6n1 |
T |
C |
1: 173,916,809 (GRCm39) |
F68L |
probably benign |
Het |
| Or7e178 |
T |
A |
9: 20,225,935 (GRCm39) |
S86C |
probably benign |
Het |
| Pias1 |
A |
T |
9: 62,800,421 (GRCm39) |
N430K |
probably benign |
Het |
| Ralgapa2 |
G |
T |
2: 146,254,052 (GRCm39) |
A836D |
probably damaging |
Het |
| Rftn2 |
T |
C |
1: 55,245,497 (GRCm39) |
E238G |
probably benign |
Het |
| Samt4 |
T |
G |
X: 153,267,118 (GRCm39) |
S86A |
probably damaging |
Het |
| Setd2 |
T |
C |
9: 110,379,842 (GRCm39) |
M1219T |
probably benign |
Het |
| Sh3pxd2b |
T |
A |
11: 32,337,992 (GRCm39) |
D99E |
probably damaging |
Het |
| Sh3rf1 |
A |
T |
8: 61,825,723 (GRCm39) |
T573S |
probably benign |
Het |
| Sugct |
A |
G |
13: 17,837,386 (GRCm39) |
W82R |
probably damaging |
Het |
| Syt4 |
T |
G |
18: 31,576,896 (GRCm39) |
K153Q |
probably benign |
Het |
| Tbrg1 |
T |
C |
9: 37,563,908 (GRCm39) |
|
probably null |
Het |
| Tex36 |
C |
T |
7: 133,189,137 (GRCm39) |
R145K |
probably benign |
Het |
| Tfap2b |
A |
T |
1: 19,289,427 (GRCm39) |
D166V |
probably damaging |
Het |
| Trhde |
T |
C |
10: 114,322,830 (GRCm39) |
Y694C |
probably damaging |
Het |
| Trpc1 |
G |
A |
9: 95,618,914 (GRCm39) |
L146F |
probably damaging |
Het |
| Ttc29 |
G |
A |
8: 79,003,569 (GRCm39) |
E262K |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,547,293 (GRCm39) |
I32251N |
probably damaging |
Het |
| Ttn |
G |
T |
2: 76,612,691 (GRCm39) |
D17129E |
probably benign |
Het |
| Ucma |
T |
A |
2: 4,981,636 (GRCm39) |
I47N |
probably damaging |
Het |
| Vmn1r13 |
A |
T |
6: 57,187,474 (GRCm39) |
K211M |
possibly damaging |
Het |
| Vmn2r95 |
A |
C |
17: 18,660,218 (GRCm39) |
H210P |
probably damaging |
Het |
| Xpc |
T |
C |
6: 91,476,767 (GRCm39) |
E444G |
probably benign |
Het |
| Yy1 |
T |
C |
12: 108,760,023 (GRCm39) |
|
probably benign |
Het |
| Zfp217 |
A |
G |
2: 169,954,422 (GRCm39) |
|
probably benign |
Het |
| Zfp318 |
T |
A |
17: 46,720,043 (GRCm39) |
Y1080* |
probably null |
Het |
|
| Other mutations in Kpna1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01111:Kpna1
|
APN |
16 |
35,833,259 (GRCm39) |
intron |
probably benign |
|
|
IGL01653:Kpna1
|
APN |
16 |
35,840,562 (GRCm39) |
missense |
probably benign |
|
|
IGL03102:Kpna1
|
APN |
16 |
35,833,289 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03340:Kpna1
|
APN |
16 |
35,820,616 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0040:Kpna1
|
UTSW |
16 |
35,843,611 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0456:Kpna1
|
UTSW |
16 |
35,823,270 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0457:Kpna1
|
UTSW |
16 |
35,823,275 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1146:Kpna1
|
UTSW |
16 |
35,853,749 (GRCm39) |
nonsense |
probably null |
|
|
R1146:Kpna1
|
UTSW |
16 |
35,853,749 (GRCm39) |
nonsense |
probably null |
|
|
R1347:Kpna1
|
UTSW |
16 |
35,829,696 (GRCm39) |
missense |
probably benign |
0.44 |
|
R1347:Kpna1
|
UTSW |
16 |
35,829,696 (GRCm39) |
missense |
probably benign |
0.44 |
|
R2225:Kpna1
|
UTSW |
16 |
35,851,591 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2226:Kpna1
|
UTSW |
16 |
35,851,591 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2227:Kpna1
|
UTSW |
16 |
35,851,591 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2251:Kpna1
|
UTSW |
16 |
35,841,939 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2252:Kpna1
|
UTSW |
16 |
35,841,939 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2271:Kpna1
|
UTSW |
16 |
35,851,591 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3952:Kpna1
|
UTSW |
16 |
35,823,252 (GRCm39) |
missense |
probably benign |
0.13 |
|
R4771:Kpna1
|
UTSW |
16 |
35,853,773 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4954:Kpna1
|
UTSW |
16 |
35,853,696 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5075:Kpna1
|
UTSW |
16 |
35,829,722 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5824:Kpna1
|
UTSW |
16 |
35,840,575 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5873:Kpna1
|
UTSW |
16 |
35,834,598 (GRCm39) |
intron |
probably benign |
|
|
R6221:Kpna1
|
UTSW |
16 |
35,841,058 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6603:Kpna1
|
UTSW |
16 |
35,849,890 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7168:Kpna1
|
UTSW |
16 |
35,836,332 (GRCm39) |
intron |
probably benign |
|
|
R7447:Kpna1
|
UTSW |
16 |
35,850,009 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7872:Kpna1
|
UTSW |
16 |
35,843,565 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7897:Kpna1
|
UTSW |
16 |
35,854,235 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9069:Kpna1
|
UTSW |
16 |
35,836,381 (GRCm39) |
intron |
probably benign |
|
|
R9124:Kpna1
|
UTSW |
16 |
35,853,644 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9233:Kpna1
|
UTSW |
16 |
35,853,793 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9365:Kpna1
|
UTSW |
16 |
35,833,287 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation