Incidental Mutation 'R5075:Kpna1'
| ID |
386942 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kpna1
|
| Ensembl Gene |
ENSMUSG00000022905 |
| Gene Name |
karyopherin subunit alpha 1 |
| Synonyms |
NPI1, importin alpha 5, mSRP1, m-importin-alpha-S1, Rch2 |
| MMRRC Submission |
042664-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.531)
|
| Stock # |
R5075 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
35803693-35859479 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 35829722 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 70
(F70I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133852
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004054]
[ENSMUST00000172534]
[ENSMUST00000173555]
[ENSMUST00000173696]
[ENSMUST00000174500]
[ENSMUST00000174737]
|
| AlphaFold |
Q60960 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000004054
AA Change: F92I
PolyPhen 2
Score 0.089 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000004054
Gene: ENSMUSG00000022905
AA Change: F92I
| 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 |
probably damaging
Transcript: ENSMUST00000173555
AA Change: F92I
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000133318
Gene: ENSMUSG00000022905
AA Change: F92I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IBB
|
2 |
96 |
1.9e-31 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000173696
AA Change: F92I
PolyPhen 2
Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000134534
Gene: ENSMUSG00000022905
AA Change: F92I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IBB
|
2 |
105 |
9.3e-31 |
PFAM |
|
Blast:ARM
|
114 |
149 |
1e-14 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173715
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174500
AA Change: F92I
PolyPhen 2
Score 0.361 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000133819
Gene: ENSMUSG00000022905
AA Change: F92I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IBB
|
2 |
96 |
2.8e-31 |
PFAM |
|
Blast:ARM
|
114 |
145 |
6e-14 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000174737
AA Change: F70I
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000133852
Gene: ENSMUSG00000022905
AA Change: F70I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IBB
|
1 |
83 |
1.3e-22 |
PFAM |
|
| Meta Mutation Damage Score |
0.0955 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.3%
|
| 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. 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agl |
A |
G |
3: 116,587,456 (GRCm39) |
F33S |
probably damaging |
Het |
| Atf7ip |
A |
G |
6: 136,537,232 (GRCm39) |
D163G |
probably benign |
Het |
| Cep85 |
C |
A |
4: 133,859,678 (GRCm39) |
D662Y |
probably damaging |
Het |
| Cntn6 |
T |
A |
6: 104,809,991 (GRCm39) |
S558T |
probably damaging |
Het |
| Dnah8 |
T |
C |
17: 30,958,731 (GRCm39) |
|
probably null |
Het |
| Dnah8 |
T |
A |
17: 31,019,505 (GRCm39) |
N3859K |
probably damaging |
Het |
| Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
| Dnajc21 |
G |
T |
15: 10,461,963 (GRCm39) |
T146K |
probably benign |
Het |
| Ep400 |
T |
C |
5: 110,833,351 (GRCm39) |
E1957G |
unknown |
Het |
| Esm1 |
A |
G |
13: 113,349,892 (GRCm39) |
Y104C |
probably damaging |
Het |
| Fkbp15 |
T |
C |
4: 62,239,266 (GRCm39) |
K613R |
probably damaging |
Het |
| Gm10722 |
A |
C |
9: 3,001,041 (GRCm39) |
Y39S |
probably benign |
Het |
| Gm5592 |
A |
G |
7: 40,808,387 (GRCm39) |
|
probably benign |
Het |
| Hdac4 |
A |
G |
1: 91,923,842 (GRCm39) |
S223P |
probably benign |
Het |
| Hypk |
A |
G |
2: 121,286,111 (GRCm39) |
|
probably benign |
Het |
| Lrp2 |
A |
G |
2: 69,296,102 (GRCm39) |
Y3336H |
probably benign |
Het |
| Mier1 |
A |
G |
4: 102,996,670 (GRCm39) |
D99G |
probably benign |
Het |
| Muc4 |
T |
C |
16: 32,754,794 (GRCm38) |
|
probably benign |
Het |
| Nup160 |
A |
G |
2: 90,530,518 (GRCm39) |
E463G |
probably damaging |
Het |
| Or5b121 |
T |
A |
19: 13,507,637 (GRCm39) |
M244K |
probably benign |
Het |
| Peg3 |
A |
T |
7: 6,711,419 (GRCm39) |
C1268S |
probably damaging |
Het |
| Recql4 |
G |
A |
15: 76,593,744 (GRCm39) |
P122L |
probably damaging |
Het |
| Rex2 |
A |
T |
4: 147,142,151 (GRCm39) |
Q213L |
possibly damaging |
Het |
| Rnf25 |
A |
G |
1: 74,634,803 (GRCm39) |
V73A |
probably benign |
Het |
| Sacm1l |
A |
G |
9: 123,411,327 (GRCm39) |
D372G |
probably benign |
Het |
| Selplg |
T |
C |
5: 113,958,045 (GRCm39) |
D87G |
probably benign |
Het |
| Sgsh |
G |
A |
11: 119,237,594 (GRCm39) |
T340M |
probably benign |
Het |
| Slc4a3 |
A |
T |
1: 75,534,012 (GRCm39) |
I1120F |
probably damaging |
Het |
| Snrnp40 |
T |
C |
4: 130,282,375 (GRCm39) |
Y311H |
probably benign |
Het |
| Spata31e2 |
T |
C |
1: 26,722,133 (GRCm39) |
K1016E |
probably damaging |
Het |
| Stard7 |
A |
T |
2: 127,111,879 (GRCm39) |
|
probably benign |
Het |
| Stat1 |
A |
T |
1: 52,161,871 (GRCm39) |
K40M |
possibly damaging |
Het |
| Sun1 |
T |
C |
5: 139,212,646 (GRCm39) |
|
probably null |
Het |
| Tet2 |
T |
A |
3: 133,192,667 (GRCm39) |
Q589L |
probably benign |
Het |
| Tmc7 |
A |
T |
7: 118,151,919 (GRCm39) |
|
probably null |
Het |
| Tmt1b |
A |
G |
10: 128,796,549 (GRCm39) |
F87L |
probably damaging |
Het |
| Unc79 |
A |
T |
12: 103,041,213 (GRCm39) |
I749F |
possibly damaging |
Het |
| Ust |
A |
G |
10: 8,393,988 (GRCm39) |
F59S |
probably damaging |
Het |
| Wdr81 |
A |
T |
11: 75,343,307 (GRCm39) |
D653E |
probably benign |
Het |
| Zfat |
A |
G |
15: 68,052,079 (GRCm39) |
S572P |
probably benign |
Het |
| Zmynd15 |
G |
C |
11: 70,352,946 (GRCm39) |
E143D |
probably damaging |
Het |
| Zzef1 |
A |
G |
11: 72,749,170 (GRCm39) |
E886G |
probably damaging |
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 |
|
|
IGL02412:Kpna1
|
APN |
16 |
35,851,561 (GRCm39) |
missense |
probably benign |
0.06 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TACTAGAGTCGTGTCGGTATGCTC -3'
(R):5'- TAATGTTCCTTTCTGGTAAGATCCC -3'
Sequencing Primer
(F):5'- GCTCTTAGCAGTTTTGGATTTAAAG -3'
(R):5'- TTCTGGTAAGATCCCAAAAATAAGG -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation