Incidental Mutation 'R1067:Kpna6'
| ID |
86042 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kpna6
|
| Ensembl Gene |
ENSMUSG00000003731 |
| Gene Name |
karyopherin subunit alpha 6 |
| Synonyms |
NPI-2, IPOA7, importin alpha 7 |
| MMRRC Submission |
039153-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1067 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
129537773-129566560 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 129541896 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 500
(H500Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099650
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003828]
[ENSMUST00000102590]
|
| AlphaFold |
O35345 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000003828
AA Change: H497Q
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000003828
Gene: ENSMUSG00000003731
AA Change: H497Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IBB
|
2 |
100 |
9.5e-28 |
PFAM |
|
ARM
|
109 |
151 |
2.46e-4 |
SMART |
|
ARM
|
153 |
193 |
6.73e-11 |
SMART |
|
ARM
|
195 |
236 |
3.19e-3 |
SMART |
|
ARM
|
239 |
278 |
6.64e-1 |
SMART |
|
ARM
|
280 |
320 |
1.16e-5 |
SMART |
|
ARM
|
322 |
362 |
1.98e-8 |
SMART |
|
ARM
|
364 |
404 |
6.68e-6 |
SMART |
|
ARM
|
407 |
447 |
1.89e-5 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102590
AA Change: H500Q
PolyPhen 2
Score 0.393 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000099650
Gene: ENSMUSG00000003731
AA Change: H500Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IBB
|
9 |
102 |
4.4e-27 |
PFAM |
|
ARM
|
112 |
154 |
2.46e-4 |
SMART |
|
ARM
|
156 |
196 |
6.73e-11 |
SMART |
|
ARM
|
198 |
239 |
3.19e-3 |
SMART |
|
ARM
|
242 |
281 |
6.64e-1 |
SMART |
|
ARM
|
283 |
323 |
1.16e-5 |
SMART |
|
ARM
|
325 |
365 |
1.98e-8 |
SMART |
|
ARM
|
367 |
407 |
6.68e-6 |
SMART |
|
ARM
|
410 |
450 |
1.89e-5 |
SMART |
|
Pfam:Arm_3
|
464 |
514 |
5.3e-26 |
PFAM |
|
| Meta Mutation Damage Score |
0.0713 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 94.7%
|
| Validation Efficiency |
100% (40/40) |
| 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. The protein encoded by this gene is a member of the importin alpha family. [provided by RefSeq, Jul 2008]
PHENOTYPE: Female mice homozygous for a null mutation are infertile and show a block in zygotic genome activation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim3 |
A |
G |
18: 61,957,018 (GRCm39) |
|
probably benign |
Het |
| Adam24 |
T |
A |
8: 41,133,793 (GRCm39) |
C420* |
probably null |
Het |
| Atp12a |
G |
A |
14: 56,610,893 (GRCm39) |
G346S |
probably damaging |
Het |
| Bpifa3 |
A |
T |
2: 153,979,529 (GRCm39) |
Q218L |
probably damaging |
Het |
| Cntrl |
T |
C |
2: 35,039,034 (GRCm39) |
|
probably benign |
Het |
| Defb41 |
A |
G |
1: 18,335,248 (GRCm39) |
|
probably null |
Het |
| Edc4 |
C |
A |
8: 106,617,637 (GRCm39) |
T1094K |
probably damaging |
Het |
| Exoc4 |
T |
A |
6: 33,895,359 (GRCm39) |
I792N |
possibly damaging |
Het |
| G3bp2 |
A |
T |
5: 92,211,187 (GRCm39) |
|
probably benign |
Het |
| Herc6 |
T |
A |
6: 57,639,204 (GRCm39) |
N888K |
probably damaging |
Het |
| Iqgap1 |
G |
A |
7: 80,373,576 (GRCm39) |
T1471M |
probably benign |
Het |
| Krt78 |
G |
A |
15: 101,854,896 (GRCm39) |
Q972* |
probably null |
Het |
| Krtap9-5 |
T |
A |
11: 99,839,589 (GRCm39) |
C97S |
unknown |
Het |
| Mapk10 |
T |
A |
5: 103,139,723 (GRCm39) |
|
probably benign |
Het |
| Mybphl |
A |
G |
3: 108,272,319 (GRCm39) |
T3A |
probably benign |
Het |
| Nup155 |
A |
T |
15: 8,187,244 (GRCm39) |
H1391L |
probably damaging |
Het |
| Oca2 |
A |
G |
7: 55,966,141 (GRCm39) |
I378V |
probably damaging |
Het |
| Or7a39 |
T |
A |
10: 78,715,517 (GRCm39) |
C170* |
probably null |
Het |
| Pax6 |
C |
A |
2: 105,510,646 (GRCm39) |
Q2K |
probably benign |
Het |
| Plxna2 |
C |
A |
1: 194,462,818 (GRCm39) |
|
probably null |
Het |
| Ppp1r13b |
A |
G |
12: 111,801,550 (GRCm39) |
L378P |
probably damaging |
Het |
| Prkdc |
G |
A |
16: 15,570,646 (GRCm39) |
E2310K |
probably damaging |
Het |
| Pth2r |
G |
A |
1: 65,411,507 (GRCm39) |
G348E |
possibly damaging |
Het |
| Rarb |
T |
C |
14: 16,436,769 (GRCm38) |
I251V |
probably damaging |
Het |
| Rasa2 |
A |
G |
9: 96,434,376 (GRCm39) |
L637P |
probably damaging |
Het |
| Sucla2 |
C |
T |
14: 73,798,074 (GRCm39) |
|
probably benign |
Het |
| Syt1 |
A |
T |
10: 108,472,523 (GRCm39) |
D120E |
probably benign |
Het |
| Tedc2 |
T |
A |
17: 24,435,291 (GRCm39) |
E366V |
probably damaging |
Het |
| Tedc2 |
C |
A |
17: 24,435,292 (GRCm39) |
E366* |
probably null |
Het |
| Tmbim1 |
A |
G |
1: 74,329,905 (GRCm39) |
|
probably benign |
Het |
| Tnfrsf25 |
G |
A |
4: 152,202,745 (GRCm39) |
C191Y |
probably damaging |
Het |
| Tnn |
T |
C |
1: 159,952,968 (GRCm39) |
K691E |
probably damaging |
Het |
| Trim7 |
T |
A |
11: 48,728,646 (GRCm39) |
V98E |
probably damaging |
Het |
| Tspan3 |
A |
G |
9: 56,068,104 (GRCm39) |
F15L |
probably benign |
Het |
| Uap1l1 |
A |
G |
2: 25,252,759 (GRCm39) |
L427S |
probably damaging |
Het |
| Upf1 |
A |
C |
8: 70,791,053 (GRCm39) |
M574R |
probably damaging |
Het |
| Ush2a |
T |
A |
1: 188,282,404 (GRCm39) |
V1931E |
probably benign |
Het |
| Zfp3 |
T |
C |
11: 70,663,411 (GRCm39) |
S457P |
probably damaging |
Het |
|
| Other mutations in Kpna6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01088:Kpna6
|
APN |
4 |
129,549,276 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02750:Kpna6
|
APN |
4 |
129,555,170 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02904:Kpna6
|
APN |
4 |
129,544,480 (GRCm39) |
missense |
probably benign |
0.24 |
|
IGL02998:Kpna6
|
APN |
4 |
129,549,297 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03370:Kpna6
|
APN |
4 |
129,549,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
krazy_eight
|
UTSW |
4 |
129,549,221 (GRCm39) |
critical splice donor site |
probably null |
|
|
magnificent_seven
|
UTSW |
4 |
129,543,099 (GRCm39) |
nonsense |
probably null |
|
|
R0054:Kpna6
|
UTSW |
4 |
129,551,251 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0054:Kpna6
|
UTSW |
4 |
129,551,251 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0305:Kpna6
|
UTSW |
4 |
129,543,042 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0390:Kpna6
|
UTSW |
4 |
129,551,597 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R0623:Kpna6
|
UTSW |
4 |
129,549,209 (GRCm39) |
unclassified |
probably benign |
|
|
R0646:Kpna6
|
UTSW |
4 |
129,544,583 (GRCm39) |
missense |
probably benign |
0.43 |
|
R1348:Kpna6
|
UTSW |
4 |
129,555,152 (GRCm39) |
nonsense |
probably null |
|
|
R1661:Kpna6
|
UTSW |
4 |
129,551,264 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1665:Kpna6
|
UTSW |
4 |
129,551,264 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1766:Kpna6
|
UTSW |
4 |
129,551,235 (GRCm39) |
missense |
probably benign |
0.33 |
|
R4833:Kpna6
|
UTSW |
4 |
129,551,572 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R4941:Kpna6
|
UTSW |
4 |
129,541,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4974:Kpna6
|
UTSW |
4 |
129,550,198 (GRCm39) |
splice site |
probably null |
|
|
R5244:Kpna6
|
UTSW |
4 |
129,549,221 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5914:Kpna6
|
UTSW |
4 |
129,566,485 (GRCm39) |
unclassified |
probably benign |
|
|
R6148:Kpna6
|
UTSW |
4 |
129,543,099 (GRCm39) |
nonsense |
probably null |
|
|
R6713:Kpna6
|
UTSW |
4 |
129,547,777 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6799:Kpna6
|
UTSW |
4 |
129,551,247 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6942:Kpna6
|
UTSW |
4 |
129,545,514 (GRCm39) |
splice site |
probably null |
|
|
R7073:Kpna6
|
UTSW |
4 |
129,548,139 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7794:Kpna6
|
UTSW |
4 |
129,541,844 (GRCm39) |
missense |
probably benign |
|
|
R7815:Kpna6
|
UTSW |
4 |
129,551,590 (GRCm39) |
missense |
probably benign |
|
|
R8290:Kpna6
|
UTSW |
4 |
129,555,097 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9360:Kpna6
|
UTSW |
4 |
129,547,635 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1176:Kpna6
|
UTSW |
4 |
129,549,341 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Kpna6
|
UTSW |
4 |
129,541,871 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTCTCAAAACCCAATGTGAGCCTC -3'
(R):5'- TCCCACTGCTTTTGGTTGGGAAC -3'
Sequencing Primer
(F):5'- CCCAATGTGAGCCTCAGATG -3'
(R):5'- TTGGGAACTTGTACTTCAGGAAAG -3'
|
| Posted On |
2013-11-18 |
Incidental Mutation