Incidental Mutation 'R2874:Kpna7'
| ID |
260453 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kpna7
|
| Ensembl Gene |
ENSMUSG00000038770 |
| Gene Name |
karyopherin subunit alpha 7 |
| Synonyms |
LOC381686, importin alpha 2 |
| MMRRC Submission |
040462-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.322)
|
| Stock # |
R2874 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
144920537-144946446 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 144930745 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 367
(T367A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106301
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110672]
[ENSMUST00000110673]
[ENSMUST00000116454]
|
| AlphaFold |
C0LLJ0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110672
AA Change: T346A
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000106300
Gene: ENSMUSG00000038770
AA Change: T346A
| 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: ENSMUST00000110673
AA Change: T367A
PolyPhen 2
Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000106301
Gene: ENSMUSG00000038770
AA Change: T367A
| 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 |
probably benign
Transcript: ENSMUST00000116454
AA Change: T346A
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000112155
Gene: ENSMUSG00000038770
AA Change: T346A
| 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 |
noncoding transcript
Transcript: ENSMUST00000142866
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
100% (57/57) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930029G22Rik |
T |
A |
17: 69,725,106 (GRCm39) |
|
noncoding transcript |
Het |
| Ankrd42 |
T |
C |
7: 92,254,566 (GRCm39) |
K348E |
possibly damaging |
Het |
| Arhgef10 |
T |
C |
8: 15,025,093 (GRCm39) |
|
probably null |
Het |
| Arhgef10 |
A |
G |
8: 15,025,666 (GRCm39) |
I459V |
probably benign |
Het |
| Cd6 |
A |
G |
19: 10,771,990 (GRCm39) |
I307T |
possibly damaging |
Het |
| Cebpz |
A |
T |
17: 79,239,532 (GRCm39) |
|
probably benign |
Het |
| Clcn4 |
A |
G |
7: 7,293,520 (GRCm39) |
I412T |
probably benign |
Het |
| Clstn3 |
T |
A |
6: 124,415,294 (GRCm39) |
D690V |
probably damaging |
Het |
| Col12a1 |
A |
T |
9: 79,606,831 (GRCm39) |
F531I |
probably damaging |
Het |
| Dennd2b |
A |
T |
7: 109,156,637 (GRCm39) |
Y38N |
probably benign |
Het |
| Dhx57 |
A |
T |
17: 80,558,805 (GRCm39) |
D1051E |
probably benign |
Het |
| Ext2 |
A |
G |
2: 93,570,031 (GRCm39) |
V460A |
possibly damaging |
Het |
| Frmpd4 |
A |
T |
X: 166,260,243 (GRCm39) |
D1166E |
probably benign |
Het |
| Fscb |
T |
C |
12: 64,520,210 (GRCm39) |
K419E |
probably benign |
Het |
| Ftdc1 |
A |
T |
16: 58,434,342 (GRCm39) |
I125K |
probably benign |
Het |
| Ggct |
G |
T |
6: 54,969,759 (GRCm39) |
A21D |
probably damaging |
Het |
| Gm10717 |
A |
G |
9: 3,025,532 (GRCm39) |
Y39C |
probably benign |
Het |
| Grid2ip |
C |
A |
5: 143,343,684 (GRCm39) |
Q127K |
probably benign |
Het |
| Ighv2-2 |
G |
A |
12: 113,552,118 (GRCm39) |
T40I |
possibly damaging |
Het |
| Itpr2 |
T |
C |
6: 146,327,996 (GRCm39) |
K79R |
possibly damaging |
Het |
| Klf8 |
A |
T |
X: 152,165,678 (GRCm39) |
E82D |
probably damaging |
Het |
| Lactbl1 |
G |
A |
4: 136,354,097 (GRCm39) |
C37Y |
probably damaging |
Het |
| Lrp1b |
A |
G |
2: 40,741,705 (GRCm39) |
L3188P |
probably damaging |
Het |
| Matcap1 |
A |
G |
8: 106,008,664 (GRCm39) |
M451T |
possibly damaging |
Het |
| Myo9b |
G |
A |
8: 71,786,981 (GRCm39) |
R721Q |
probably benign |
Het |
| Noc4l |
A |
G |
5: 110,796,969 (GRCm39) |
V465A |
probably benign |
Het |
| Notch1 |
A |
G |
2: 26,350,247 (GRCm39) |
C2298R |
possibly damaging |
Het |
| Or10z1 |
T |
C |
1: 174,078,092 (GRCm39) |
S134G |
probably benign |
Het |
| Parp1 |
A |
G |
1: 180,401,230 (GRCm39) |
D45G |
probably damaging |
Het |
| Plxna3 |
T |
A |
X: 73,383,002 (GRCm39) |
|
probably benign |
Het |
| Prdx4 |
A |
G |
X: 154,123,460 (GRCm39) |
V15A |
probably benign |
Het |
| Prps1 |
C |
T |
X: 139,372,743 (GRCm39) |
|
probably benign |
Het |
| Psmb8 |
T |
C |
17: 34,419,144 (GRCm39) |
I146T |
probably damaging |
Het |
| Qng1 |
T |
A |
13: 58,530,384 (GRCm39) |
I209F |
probably damaging |
Het |
| Ralgds |
A |
G |
2: 28,438,781 (GRCm39) |
|
probably null |
Het |
| Rasl12 |
A |
G |
9: 65,315,605 (GRCm39) |
N83S |
probably benign |
Het |
| Rnf6 |
T |
C |
5: 146,147,215 (GRCm39) |
Y601C |
probably benign |
Het |
| Rreb1 |
T |
C |
13: 38,100,484 (GRCm39) |
I205T |
probably benign |
Het |
| Sgk2 |
A |
G |
2: 162,836,449 (GRCm39) |
|
probably benign |
Het |
| Spsb4 |
G |
T |
9: 96,878,071 (GRCm39) |
T84K |
probably damaging |
Het |
| St7 |
C |
T |
6: 17,819,276 (GRCm39) |
P60L |
probably damaging |
Het |
| Stx3 |
A |
T |
19: 11,766,938 (GRCm39) |
V91D |
probably damaging |
Het |
| Tbc1d8 |
A |
G |
1: 39,444,398 (GRCm39) |
F187S |
probably damaging |
Het |
| Tep1 |
A |
G |
14: 51,088,107 (GRCm39) |
I85T |
possibly damaging |
Het |
| Trpa1 |
A |
G |
1: 14,957,844 (GRCm39) |
C705R |
probably damaging |
Het |
| Vmn2r68 |
A |
C |
7: 84,882,834 (GRCm39) |
M306R |
probably benign |
Het |
| Vwa7 |
G |
A |
17: 35,240,218 (GRCm39) |
M395I |
probably damaging |
Het |
| Zfp53 |
A |
T |
17: 21,728,340 (GRCm39) |
E124D |
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 |
|
|
IGL03333:Kpna7
|
APN |
5 |
144,942,765 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCTGACTCCCATCTGAGATTTG -3'
(R):5'- GACAGGTTTGCAATCCTTAGACAC -3'
Sequencing Primer
(F):5'- CTAGAGCTCAGACTGGCTTTACG -3'
(R):5'- AGGTTTGCAATCCTTAGACACCTTTC -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation