Incidental Mutation 'IGL03333:Kpna7'
| ID |
416933 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Kpna7
|
| Ensembl Gene |
ENSMUSG00000038770 |
| Gene Name |
karyopherin subunit alpha 7 |
| Synonyms |
LOC381686, importin alpha 2 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.435)
|
| Stock # |
IGL03333
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
144920537-144946446 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 144942765 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 74
(I74V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112155
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110672]
[ENSMUST00000110673]
[ENSMUST00000116454]
[ENSMUST00000139024]
[ENSMUST00000151196]
|
| AlphaFold |
C0LLJ0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000110672
AA Change: I74V
PolyPhen 2
Score 0.476 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000106300
Gene: ENSMUSG00000038770
AA Change: I74V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IBB
|
2 |
91 |
1.7e-14 |
PFAM |
|
ARM
|
100 |
141 |
1.4e-8 |
SMART |
|
ARM
|
143 |
183 |
6.18e-10 |
SMART |
|
ARM
|
185 |
226 |
1.78e-1 |
SMART |
|
ARM
|
229 |
268 |
4.28e-4 |
SMART |
|
ARM
|
270 |
310 |
1.19e-2 |
SMART |
|
ARM
|
312 |
352 |
5.27e-4 |
SMART |
|
ARM
|
354 |
393 |
2.85e0 |
SMART |
|
ARM
|
396 |
436 |
8.17e-1 |
SMART |
|
low complexity region
|
486 |
497 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000110673
AA Change: I74V
PolyPhen 2
Score 0.476 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000106301
Gene: ENSMUSG00000038770
AA Change: I74V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IBB
|
6 |
90 |
2.7e-19 |
PFAM |
|
ARM
|
100 |
141 |
1.4e-8 |
SMART |
|
ARM
|
143 |
183 |
3.31e-10 |
SMART |
|
ARM
|
206 |
247 |
1.78e-1 |
SMART |
|
ARM
|
250 |
289 |
4.28e-4 |
SMART |
|
ARM
|
291 |
331 |
1.19e-2 |
SMART |
|
ARM
|
333 |
373 |
5.27e-4 |
SMART |
|
ARM
|
375 |
414 |
2.85e0 |
SMART |
|
ARM
|
417 |
457 |
8.17e-1 |
SMART |
|
Pfam:Arm_3
|
466 |
517 |
8.9e-18 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000116454
AA Change: I74V
PolyPhen 2
Score 0.476 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000112155
Gene: ENSMUSG00000038770
AA Change: I74V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IBB
|
2 |
91 |
1.7e-14 |
PFAM |
|
ARM
|
100 |
141 |
1.4e-8 |
SMART |
|
ARM
|
143 |
183 |
6.18e-10 |
SMART |
|
ARM
|
185 |
226 |
1.78e-1 |
SMART |
|
ARM
|
229 |
268 |
4.28e-4 |
SMART |
|
ARM
|
270 |
310 |
1.19e-2 |
SMART |
|
ARM
|
312 |
352 |
5.27e-4 |
SMART |
|
ARM
|
354 |
393 |
2.85e0 |
SMART |
|
ARM
|
396 |
436 |
8.17e-1 |
SMART |
|
low complexity region
|
486 |
497 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139024
AA Change: I52V
PolyPhen 2
Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000121515
Gene: ENSMUSG00000038770
AA Change: I52V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Arm
|
78 |
119 |
7.6e-13 |
PFAM |
|
Pfam:HEAT_2
|
91 |
164 |
4.6e-9 |
PFAM |
|
Pfam:HEAT_EZ
|
104 |
159 |
2.1e-8 |
PFAM |
|
Pfam:Arm
|
121 |
161 |
4.1e-15 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142866
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151196
|
| 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, but exhibits different nuclear localization signal binding specificity compared to other members of the family. A pseudogene of this gene has been defined on chromosome 5. [provided by RefSeq, Jul 2016]
PHENOTYPE: Mice homozygous or heterozygous for a null mutation display smaller litter sizes with preferential loss of females and accelerated cell cycles post fertilization resulting in loss of embryos. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap39 |
T |
C |
15: 76,610,932 (GRCm39) |
M893V |
probably benign |
Het |
| Ccdc185 |
C |
A |
1: 182,576,398 (GRCm39) |
G97V |
probably damaging |
Het |
| Cep170 |
T |
C |
1: 176,597,092 (GRCm39) |
T422A |
possibly damaging |
Het |
| Ckap2l |
A |
C |
2: 129,138,228 (GRCm39) |
|
probably null |
Het |
| Cpa3 |
A |
G |
3: 20,269,992 (GRCm39) |
Y411H |
possibly damaging |
Het |
| Dnah2 |
C |
A |
11: 69,385,949 (GRCm39) |
R1011L |
probably damaging |
Het |
| Efnb2 |
T |
A |
8: 8,689,275 (GRCm39) |
K30* |
probably null |
Het |
| Ep400 |
C |
T |
5: 110,851,432 (GRCm39) |
R1350H |
unknown |
Het |
| Epha6 |
T |
C |
16: 59,503,051 (GRCm39) |
D952G |
probably damaging |
Het |
| Exoc7 |
C |
A |
11: 116,191,987 (GRCm39) |
V195L |
probably benign |
Het |
| Fbxw8 |
T |
C |
5: 118,233,660 (GRCm39) |
M324V |
possibly damaging |
Het |
| Fchsd2 |
T |
C |
7: 100,847,703 (GRCm39) |
S198P |
probably damaging |
Het |
| Gcdh |
T |
C |
8: 85,617,700 (GRCm39) |
T202A |
probably benign |
Het |
| Gm6619 |
G |
A |
6: 131,467,471 (GRCm39) |
|
probably benign |
Het |
| Itpr1 |
A |
T |
6: 108,357,871 (GRCm39) |
|
probably benign |
Het |
| Kif2c |
A |
C |
4: 117,037,833 (GRCm39) |
V31G |
possibly damaging |
Het |
| Lvrn |
G |
A |
18: 46,997,731 (GRCm39) |
|
probably benign |
Het |
| Man2b2 |
T |
A |
5: 36,973,483 (GRCm39) |
I499F |
probably damaging |
Het |
| Mmd2 |
G |
T |
5: 142,553,693 (GRCm39) |
|
probably benign |
Het |
| Or11h7 |
C |
T |
14: 50,890,855 (GRCm39) |
Q54* |
probably null |
Het |
| Or2r11 |
T |
C |
6: 42,437,773 (GRCm39) |
Y60C |
probably damaging |
Het |
| Or6b1 |
T |
A |
6: 42,815,637 (GRCm39) |
I274N |
possibly damaging |
Het |
| Or8g2b |
T |
A |
9: 39,751,308 (GRCm39) |
Y193N |
probably damaging |
Het |
| Parp14 |
A |
G |
16: 35,661,800 (GRCm39) |
S1412P |
probably benign |
Het |
| Prr30 |
A |
T |
14: 101,435,827 (GRCm39) |
V245E |
possibly damaging |
Het |
| Ros1 |
T |
A |
10: 52,031,267 (GRCm39) |
D458V |
probably damaging |
Het |
| Sec22c |
A |
G |
9: 121,517,284 (GRCm39) |
L138P |
probably damaging |
Het |
| Sema6d |
C |
A |
2: 124,506,290 (GRCm39) |
H699Q |
possibly damaging |
Het |
| Spata17 |
A |
T |
1: 186,872,667 (GRCm39) |
M1K |
probably null |
Het |
| Tpr |
T |
A |
1: 150,302,718 (GRCm39) |
D1331E |
probably benign |
Het |
| Ttc4 |
A |
G |
4: 106,533,828 (GRCm39) |
Y120H |
probably benign |
Het |
| Tubgcp4 |
A |
G |
2: 121,026,654 (GRCm39) |
|
probably null |
Het |
| Usp19 |
T |
A |
9: 108,371,348 (GRCm39) |
M285K |
probably benign |
Het |
| Vmn1r222 |
A |
T |
13: 23,417,177 (GRCm39) |
F12Y |
probably benign |
Het |
| Vmn2r72 |
T |
C |
7: 85,400,075 (GRCm39) |
K325E |
probably benign |
Het |
| Vps33b |
T |
C |
7: 79,923,973 (GRCm39) |
|
probably benign |
Het |
| Zfp784 |
C |
T |
7: 5,039,351 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Kpna7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00659:Kpna7
|
APN |
5 |
144,944,056 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01505:Kpna7
|
APN |
5 |
144,929,661 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02009:Kpna7
|
APN |
5 |
144,930,888 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL02365:Kpna7
|
APN |
5 |
144,922,543 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
IGL02947:Kpna7
|
APN |
5 |
144,930,884 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03195:Kpna7
|
APN |
5 |
144,933,847 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03236:Kpna7
|
APN |
5 |
144,922,504 (GRCm39) |
missense |
unknown |
|
|
PIT4515001:Kpna7
|
UTSW |
5 |
144,941,862 (GRCm39) |
missense |
probably benign |
0.17 |
|
R0027:Kpna7
|
UTSW |
5 |
144,926,507 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0421:Kpna7
|
UTSW |
5 |
144,926,551 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R0463:Kpna7
|
UTSW |
5 |
144,944,804 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R2229:Kpna7
|
UTSW |
5 |
144,926,507 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2871:Kpna7
|
UTSW |
5 |
144,930,745 (GRCm39) |
missense |
probably benign |
0.06 |
|
R2871:Kpna7
|
UTSW |
5 |
144,930,745 (GRCm39) |
missense |
probably benign |
0.06 |
|
R2873:Kpna7
|
UTSW |
5 |
144,930,745 (GRCm39) |
missense |
probably benign |
0.06 |
|
R2874:Kpna7
|
UTSW |
5 |
144,930,745 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4079:Kpna7
|
UTSW |
5 |
144,942,737 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5841:Kpna7
|
UTSW |
5 |
144,930,766 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R5888:Kpna7
|
UTSW |
5 |
144,926,605 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6188:Kpna7
|
UTSW |
5 |
144,929,654 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7163:Kpna7
|
UTSW |
5 |
144,939,206 (GRCm39) |
missense |
unknown |
|
|
R7502:Kpna7
|
UTSW |
5 |
144,942,731 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7727:Kpna7
|
UTSW |
5 |
144,941,855 (GRCm39) |
missense |
probably benign |
0.19 |
|
R8921:Kpna7
|
UTSW |
5 |
144,941,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9672:Kpna7
|
UTSW |
5 |
144,944,776 (GRCm39) |
missense |
probably benign |
0.31 |
|
X0021:Kpna7
|
UTSW |
5 |
144,944,043 (GRCm39) |
missense |
probably benign |
0.12 |
|
| Posted On |
2016-08-02 |
Incidental Mutation