Incidental Mutation 'R0702:Kpna4'
| ID |
63042 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kpna4
|
| Ensembl Gene |
ENSMUSG00000027782 |
| Gene Name |
karyopherin subunit alpha 4 |
| Synonyms |
1110058D08Rik, importin alpha 3, IPOA3 |
| MMRRC Submission |
038885-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0702 (G1)
|
| Quality Score |
85 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
68979554-69034425 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 68991438 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 361
(V361D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141227
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029353]
[ENSMUST00000194558]
|
| AlphaFold |
O35343 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029353
AA Change: V463D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029353
Gene: ENSMUSG00000027782
AA Change: V463D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IBB
|
7 |
93 |
2.4e-25 |
PFAM |
|
ARM
|
103 |
144 |
7.73e-11 |
SMART |
|
ARM
|
146 |
186 |
3.81e-10 |
SMART |
|
ARM
|
188 |
229 |
2.04e1 |
SMART |
|
ARM
|
232 |
271 |
4.15e-2 |
SMART |
|
ARM
|
273 |
313 |
4.69e-10 |
SMART |
|
ARM
|
315 |
355 |
9.6e-7 |
SMART |
|
ARM
|
357 |
397 |
1.85e-8 |
SMART |
|
ARM
|
400 |
440 |
9.45e-6 |
SMART |
|
Pfam:Arm_3
|
447 |
499 |
4.1e-26 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000158792
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000194558
AA Change: V361D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000141227
Gene: ENSMUSG00000027782
AA Change: V361D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IBB
|
3 |
94 |
2.2e-27 |
PFAM |
|
ARM
|
103 |
144 |
7.73e-11 |
SMART |
|
ARM
|
146 |
186 |
3.81e-10 |
SMART |
|
ARM
|
188 |
229 |
2.04e1 |
SMART |
|
ARM
|
232 |
271 |
4.15e-2 |
SMART |
|
ARM
|
273 |
313 |
4.69e-10 |
SMART |
|
ARM
|
315 |
355 |
9.6e-7 |
SMART |
|
ARM
|
357 |
397 |
1.85e-8 |
SMART |
|
ARM
|
400 |
440 |
9.45e-6 |
SMART |
|
low complexity region
|
479 |
493 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 95.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The nuclear import of karyophilic proteins is directed by short amino acid sequences termed nuclear localization signals (NLSs). Karyopherins, or importins, are cytoplasmic proteins that recognize NLSs and dock NLS-containing proteins to the nuclear pore complex. The protein encoded by this gene shares the sequence similarity with Xenopus importin-alpha and Saccharomyces cerevisiae Srp1. This protein is found to interact with the NLSs of DNA helicase Q1 and SV40 T antigen. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd11 |
A |
T |
8: 123,616,505 (GRCm39) |
I2428N |
probably damaging |
Het |
| Ano9 |
A |
G |
7: 140,687,195 (GRCm39) |
V348A |
probably damaging |
Het |
| Cfap69 |
A |
G |
5: 5,694,465 (GRCm39) |
I132T |
probably benign |
Het |
| Chd1l |
C |
T |
3: 97,474,110 (GRCm39) |
D791N |
probably benign |
Het |
| Chl1 |
A |
G |
6: 103,683,583 (GRCm39) |
Y819C |
probably damaging |
Het |
| Col5a2 |
T |
A |
1: 45,419,291 (GRCm39) |
D1263V |
possibly damaging |
Het |
| Csnk1g1 |
C |
T |
9: 65,917,775 (GRCm39) |
R45W |
probably damaging |
Het |
| Cul7 |
T |
A |
17: 46,974,116 (GRCm39) |
L1467H |
probably damaging |
Het |
| Dgat2l6 |
G |
A |
X: 99,586,287 (GRCm39) |
V180M |
probably damaging |
Het |
| Fscb |
G |
A |
12: 64,518,775 (GRCm39) |
P897L |
unknown |
Het |
| Herc6 |
T |
C |
6: 57,558,092 (GRCm39) |
L24P |
probably damaging |
Het |
| Il23r |
T |
A |
6: 67,443,269 (GRCm39) |
Q278L |
probably damaging |
Het |
| Muc1 |
A |
G |
3: 89,137,527 (GRCm39) |
D123G |
probably benign |
Het |
| Notch4 |
A |
G |
17: 34,794,177 (GRCm39) |
Y722C |
probably damaging |
Het |
| Ntng1 |
G |
C |
3: 109,779,570 (GRCm39) |
R336G |
probably damaging |
Het |
| Or5ac17 |
T |
C |
16: 59,036,062 (GRCm39) |
M305V |
probably benign |
Het |
| Pgbd5 |
C |
T |
8: 125,100,994 (GRCm39) |
V421M |
probably benign |
Het |
| Prkdc |
A |
G |
16: 15,603,835 (GRCm39) |
T2950A |
possibly damaging |
Het |
| Proser3 |
A |
T |
7: 30,238,955 (GRCm39) |
D630E |
probably benign |
Het |
| Rims4 |
C |
T |
2: 163,705,849 (GRCm39) |
V262M |
possibly damaging |
Het |
| Serpina3g |
A |
G |
12: 104,207,512 (GRCm39) |
E225G |
probably damaging |
Het |
| Slc2a13 |
T |
C |
15: 91,205,870 (GRCm39) |
D439G |
probably benign |
Het |
| Srebf2 |
T |
C |
15: 82,061,610 (GRCm39) |
L352P |
probably damaging |
Het |
| Trpc5 |
A |
G |
X: 143,194,735 (GRCm39) |
V590A |
probably damaging |
Het |
| Ubqln2 |
A |
T |
X: 152,282,665 (GRCm39) |
M406L |
possibly damaging |
Het |
|
| Other mutations in Kpna4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01387:Kpna4
|
APN |
3 |
69,009,590 (GRCm39) |
splice site |
probably benign |
|
|
IGL01642:Kpna4
|
APN |
3 |
68,993,117 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02752:Kpna4
|
APN |
3 |
69,002,863 (GRCm39) |
nonsense |
probably null |
|
|
R0865:Kpna4
|
UTSW |
3 |
69,008,750 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0919:Kpna4
|
UTSW |
3 |
68,993,161 (GRCm39) |
splice site |
probably benign |
|
|
R5135:Kpna4
|
UTSW |
3 |
69,000,142 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5955:Kpna4
|
UTSW |
3 |
68,997,134 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6008:Kpna4
|
UTSW |
3 |
69,034,066 (GRCm39) |
missense |
probably null |
0.81 |
|
R7106:Kpna4
|
UTSW |
3 |
68,986,797 (GRCm39) |
nonsense |
probably null |
|
|
R7153:Kpna4
|
UTSW |
3 |
68,997,131 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7155:Kpna4
|
UTSW |
3 |
68,997,266 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7294:Kpna4
|
UTSW |
3 |
68,999,956 (GRCm39) |
splice site |
probably null |
|
|
R7456:Kpna4
|
UTSW |
3 |
69,000,181 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8961:Kpna4
|
UTSW |
3 |
68,986,821 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9057:Kpna4
|
UTSW |
3 |
69,002,018 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGACACTACTCTGTGAAGAAAACGCTC -3'
(R):5'- AGCTCATTGTGACGTGAATTAGAAGCC -3'
Sequencing Primer
(F):5'- gtccaagggataaaacgcag -3'
(R):5'- gcacatacctttagtttcagcac -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation