Incidental Mutation 'R6360:Ipo7'
| ID |
513070 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ipo7
|
| Ensembl Gene |
ENSMUSG00000066232 |
| Gene Name |
importin 7 |
| Synonyms |
RanBP7, Imp7, A330055O14Rik |
| MMRRC Submission |
044510-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.957)
|
| Stock # |
R6360 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
109617522-109655816 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 109626336 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 48
(L48Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146367
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084731]
[ENSMUST00000208951]
|
| AlphaFold |
Q9EPL8 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000082666
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000084731
AA Change: L48Q
PolyPhen 2
Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000081782
Gene: ENSMUSG00000066232
AA Change: L48Q
| Domain | Start | End | E-Value | Type |
|---|
|
IBN_N
|
22 |
101 |
3.06e-15 |
SMART |
|
Pfam:Cse1
|
168 |
452 |
2.8e-12 |
PFAM |
|
low complexity region
|
701 |
712 |
N/A |
INTRINSIC |
|
low complexity region
|
881 |
900 |
N/A |
INTRINSIC |
|
low complexity region
|
923 |
939 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185931
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207277
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208408
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208821
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000208951
AA Change: L48Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Meta Mutation Damage Score |
0.2412 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.2%
|
| Validation Efficiency |
98% (59/60) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The importin-alpha/beta complex and the GTPase Ran mediate nuclear import of proteins with a classical nuclear localization signal. The protein encoded by this gene is a member of a class of approximately 20 potential Ran targets that share a sequence motif related to the Ran-binding site of importin-beta. Similar to importin-beta, this protein prevents the activation of Ran's GTPase by RanGAP1 and inhibits nucleotide exchange on RanGTP, and also binds directly to nuclear pore complexes where it competes for binding sites with importin-beta and transportin. This protein has a Ran-dependent transport cycle and it can cross the nuclear envelope rapidly and in both directions. At least four importin beta-like transport receptors, namely importin beta itself, transportin, RanBP5 and RanBP7, directly bind and import ribosomal proteins. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap10 |
G |
A |
8: 77,985,831 (GRCm39) |
Q657* |
probably null |
Het |
| Car15 |
T |
C |
16: 17,655,930 (GRCm39) |
T560A |
probably benign |
Het |
| Cass4 |
C |
T |
2: 172,274,531 (GRCm39) |
H769Y |
probably damaging |
Het |
| Cdh6 |
A |
G |
15: 13,041,546 (GRCm39) |
I506T |
possibly damaging |
Het |
| Clstn3 |
G |
T |
6: 124,415,388 (GRCm39) |
R659S |
possibly damaging |
Het |
| Cntnap5b |
C |
T |
1: 100,359,461 (GRCm39) |
R695* |
probably null |
Het |
| Cpsf1 |
CCCCTGCATGAGGCAGGTCCC |
CCCC |
15: 76,481,655 (GRCm39) |
|
probably null |
Het |
| Dab2ip |
A |
G |
2: 35,600,278 (GRCm39) |
H355R |
probably benign |
Het |
| Dennd2a |
C |
T |
6: 39,470,076 (GRCm39) |
A539T |
probably benign |
Het |
| Dnajc18 |
T |
C |
18: 35,819,762 (GRCm39) |
E173G |
probably damaging |
Het |
| Dock7 |
T |
C |
4: 98,857,899 (GRCm39) |
I1472V |
probably benign |
Het |
| Esco1 |
A |
T |
18: 10,574,931 (GRCm39) |
F714I |
probably damaging |
Het |
| Fam107a |
T |
G |
14: 8,299,619 (GRCm38) |
H73P |
probably damaging |
Het |
| Flg |
A |
G |
3: 93,197,908 (GRCm39) |
|
probably benign |
Het |
| Fyn |
C |
A |
10: 39,402,879 (GRCm39) |
T217K |
possibly damaging |
Het |
| Gbp9 |
T |
C |
5: 105,231,596 (GRCm39) |
D330G |
probably benign |
Het |
| Gin1 |
T |
C |
1: 97,720,264 (GRCm39) |
S509P |
possibly damaging |
Het |
| Gm17067 |
A |
C |
7: 42,357,906 (GRCm39) |
S199A |
probably benign |
Het |
| Grk4 |
A |
T |
5: 34,831,881 (GRCm39) |
K50M |
probably damaging |
Het |
| Inpp4b |
A |
G |
8: 82,629,481 (GRCm39) |
H272R |
probably benign |
Het |
| Kbtbd2 |
A |
G |
6: 56,756,191 (GRCm39) |
I515T |
probably damaging |
Het |
| Kcnu1 |
T |
A |
8: 26,351,208 (GRCm39) |
S190R |
possibly damaging |
Het |
| Kpnb1 |
T |
C |
11: 97,064,096 (GRCm39) |
N336S |
probably benign |
Het |
| Lbr |
G |
T |
1: 181,659,720 (GRCm39) |
D158E |
probably benign |
Het |
| Mphosph10 |
T |
C |
7: 64,039,703 (GRCm39) |
Q89R |
probably benign |
Het |
| Nectin3 |
T |
A |
16: 46,231,472 (GRCm39) |
T21S |
probably benign |
Het |
| Numb |
C |
A |
12: 83,844,036 (GRCm39) |
R383L |
probably damaging |
Het |
| Or2p2 |
A |
T |
13: 21,256,753 (GRCm39) |
N239K |
probably damaging |
Het |
| Or9a7 |
G |
T |
6: 40,521,647 (GRCm39) |
Q89K |
possibly damaging |
Het |
| Pcdhb11 |
A |
T |
18: 37,555,212 (GRCm39) |
I181F |
probably benign |
Het |
| Pcgf2 |
T |
A |
11: 97,583,235 (GRCm39) |
|
probably null |
Het |
| Pdzd8 |
T |
C |
19: 59,289,415 (GRCm39) |
T662A |
probably benign |
Het |
| Pex13 |
A |
C |
11: 23,605,690 (GRCm39) |
V180G |
probably benign |
Het |
| Pira1 |
A |
T |
7: 3,739,503 (GRCm39) |
L455Q |
probably damaging |
Het |
| Pkp4 |
T |
A |
2: 59,045,091 (GRCm39) |
V22D |
probably benign |
Het |
| Prkn |
T |
C |
17: 12,222,939 (GRCm39) |
F363S |
probably damaging |
Het |
| Prpf4b |
A |
C |
13: 35,085,416 (GRCm39) |
D954A |
probably damaging |
Het |
| Rfx8 |
T |
C |
1: 39,720,125 (GRCm39) |
I317V |
probably benign |
Het |
| Rnaseh2b |
T |
C |
14: 62,598,868 (GRCm39) |
S198P |
probably damaging |
Het |
| Rock1 |
A |
T |
18: 10,116,778 (GRCm39) |
C453S |
possibly damaging |
Het |
| Saxo4 |
T |
C |
19: 10,456,845 (GRCm39) |
N167D |
probably damaging |
Het |
| Scarf1 |
G |
T |
11: 75,406,495 (GRCm39) |
G260W |
probably damaging |
Het |
| Scyl1 |
T |
C |
19: 5,810,599 (GRCm39) |
E538G |
probably damaging |
Het |
| Sec14l5 |
A |
T |
16: 4,990,859 (GRCm39) |
I267F |
probably damaging |
Het |
| Senp6 |
T |
A |
9: 80,021,088 (GRCm39) |
V256D |
probably benign |
Het |
| Sf3b4 |
G |
A |
3: 96,084,044 (GRCm39) |
|
probably benign |
Het |
| Ssh1 |
T |
C |
5: 114,099,408 (GRCm39) |
|
probably null |
Het |
| Tas2r143 |
A |
C |
6: 42,377,769 (GRCm39) |
M200L |
probably benign |
Het |
| Tbc1d22a |
C |
T |
15: 86,098,830 (GRCm39) |
P19S |
probably damaging |
Het |
| Tent5b |
T |
C |
4: 133,214,067 (GRCm39) |
F313L |
probably damaging |
Het |
| Tmc5 |
T |
A |
7: 118,233,189 (GRCm39) |
M1K |
probably null |
Het |
| Tnc |
T |
C |
4: 63,918,970 (GRCm39) |
Y1151C |
probably damaging |
Het |
| Tshz3 |
A |
G |
7: 36,468,866 (GRCm39) |
E285G |
probably damaging |
Het |
| Txndc11 |
C |
T |
16: 10,902,656 (GRCm39) |
V664M |
probably damaging |
Het |
| Ube2g1 |
A |
T |
11: 72,553,908 (GRCm39) |
N20Y |
probably damaging |
Het |
| Ufl1 |
T |
A |
4: 25,265,476 (GRCm39) |
I369L |
probably benign |
Het |
| Vwf |
A |
T |
6: 125,660,489 (GRCm39) |
T2666S |
probably benign |
Het |
| Yif1a |
A |
G |
19: 5,142,369 (GRCm39) |
M259V |
probably benign |
Het |
| Zbtb46 |
T |
C |
2: 181,033,248 (GRCm39) |
D471G |
probably damaging |
Het |
|
| Other mutations in Ipo7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01796:Ipo7
|
APN |
7 |
109,629,055 (GRCm39) |
intron |
probably benign |
|
|
IGL02472:Ipo7
|
APN |
7 |
109,640,060 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02502:Ipo7
|
APN |
7 |
109,650,257 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02514:Ipo7
|
APN |
7 |
109,648,035 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL02535:Ipo7
|
APN |
7 |
109,653,233 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02961:Ipo7
|
APN |
7 |
109,646,223 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0089:Ipo7
|
UTSW |
7 |
109,649,972 (GRCm39) |
intron |
probably benign |
|
|
R0355:Ipo7
|
UTSW |
7 |
109,648,868 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0565:Ipo7
|
UTSW |
7 |
109,648,800 (GRCm39) |
intron |
probably benign |
|
|
R1342:Ipo7
|
UTSW |
7 |
109,629,011 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1405:Ipo7
|
UTSW |
7 |
109,638,456 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1405:Ipo7
|
UTSW |
7 |
109,638,456 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1405:Ipo7
|
UTSW |
7 |
109,629,048 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1405:Ipo7
|
UTSW |
7 |
109,629,048 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1791:Ipo7
|
UTSW |
7 |
109,626,339 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1838:Ipo7
|
UTSW |
7 |
109,641,316 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2116:Ipo7
|
UTSW |
7 |
109,650,325 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2120:Ipo7
|
UTSW |
7 |
109,648,838 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4366:Ipo7
|
UTSW |
7 |
109,647,423 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4366:Ipo7
|
UTSW |
7 |
109,628,919 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R4805:Ipo7
|
UTSW |
7 |
109,650,691 (GRCm39) |
missense |
probably benign |
0.16 |
|
R5228:Ipo7
|
UTSW |
7 |
109,645,969 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5903:Ipo7
|
UTSW |
7 |
109,650,020 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5976:Ipo7
|
UTSW |
7 |
109,648,014 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6254:Ipo7
|
UTSW |
7 |
109,648,267 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6335:Ipo7
|
UTSW |
7 |
109,617,675 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6776:Ipo7
|
UTSW |
7 |
109,646,272 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7132:Ipo7
|
UTSW |
7 |
109,653,254 (GRCm39) |
missense |
probably benign |
0.17 |
|
R7329:Ipo7
|
UTSW |
7 |
109,648,224 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7491:Ipo7
|
UTSW |
7 |
109,638,401 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7763:Ipo7
|
UTSW |
7 |
109,652,006 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R8070:Ipo7
|
UTSW |
7 |
109,652,014 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8479:Ipo7
|
UTSW |
7 |
109,638,452 (GRCm39) |
missense |
probably benign |
0.23 |
|
R8547:Ipo7
|
UTSW |
7 |
109,652,000 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8839:Ipo7
|
UTSW |
7 |
109,641,223 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8897:Ipo7
|
UTSW |
7 |
109,643,943 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9024:Ipo7
|
UTSW |
7 |
109,643,943 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9089:Ipo7
|
UTSW |
7 |
109,643,666 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9245:Ipo7
|
UTSW |
7 |
109,643,826 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF017:Ipo7
|
UTSW |
7 |
109,648,001 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0062:Ipo7
|
UTSW |
7 |
109,652,093 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0066:Ipo7
|
UTSW |
7 |
109,651,941 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTAAAGATGTTAGCTACTGGACC -3'
(R):5'- TGTAAGCCCTACTACCAAATATCAAGG -3'
Sequencing Primer
(F):5'- ACAATCAATCATTCAAAGGATTCAGG -3'
(R):5'- CCAAATATCAAGGTACCTGCTGTTGC -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation