Incidental Mutation 'R7096:Ranbp17'
ID |
550500 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ranbp17
|
Ensembl Gene |
ENSMUSG00000040594 |
Gene Name |
RAN binding protein 17 |
Synonyms |
4932704E15Rik |
MMRRC Submission |
045188-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7096 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
33161795-33463746 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 33424896 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 487
(I487V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000137898
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037522]
[ENSMUST00000102815]
[ENSMUST00000129179]
|
AlphaFold |
Q99NF8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000037522
AA Change: I487V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000035840 Gene: ENSMUSG00000040594 AA Change: I487V
Domain | Start | End | E-Value | Type |
IBN_N
|
30 |
95 |
3.24e-5 |
SMART |
low complexity region
|
270 |
283 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000102815
AA Change: I487V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000099879 Gene: ENSMUSG00000040594 AA Change: I487V
Domain | Start | End | E-Value | Type |
IBN_N
|
30 |
95 |
3.24e-5 |
SMART |
low complexity region
|
270 |
283 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000129179
AA Change: I487V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000137898 Gene: ENSMUSG00000040594 AA Change: I487V
Domain | Start | End | E-Value | Type |
IBN_N
|
30 |
95 |
3.24e-5 |
SMART |
low complexity region
|
270 |
283 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.0608 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
97% (68/70) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The transport of protein and large RNAs through the nuclear pore complexes (NPC) is an energy-dependent and regulated process. The import of proteins with a nuclear localization signal (NLS) is accomplished by recognition of one or more clusters of basic amino acids by the importin-alpha/beta complex; see MIM 600685 and MIM 602738. The small GTPase RAN (MIM 601179) plays a key role in NLS-dependent protein import. RAN-binding protein-17 is a member of the importin-beta superfamily of nuclear transport receptors.[supplied by OMIM, Jul 2002]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd18 |
T |
G |
3: 40,888,305 (GRCm39) |
M383R |
probably damaging |
Het |
Acd |
T |
A |
8: 106,425,121 (GRCm39) |
E366V |
possibly damaging |
Het |
Acvr2b |
T |
A |
9: 119,257,255 (GRCm39) |
|
probably null |
Het |
Alg10b |
C |
T |
15: 90,111,564 (GRCm39) |
T136I |
probably benign |
Het |
Ankrd42 |
T |
A |
7: 92,241,040 (GRCm39) |
K440* |
probably null |
Het |
Apc |
T |
A |
18: 34,449,010 (GRCm39) |
S1969T |
probably damaging |
Het |
Arhgef25 |
T |
C |
10: 127,019,897 (GRCm39) |
Y447C |
probably damaging |
Het |
AW146154 |
G |
A |
7: 41,130,867 (GRCm39) |
A83V |
probably benign |
Het |
Bach1 |
G |
A |
16: 87,516,179 (GRCm39) |
R240Q |
probably benign |
Het |
Barhl1 |
T |
G |
2: 28,799,726 (GRCm39) |
I300L |
probably benign |
Het |
Brd1 |
C |
A |
15: 88,598,138 (GRCm39) |
R536L |
probably damaging |
Het |
Brms1 |
T |
A |
19: 5,096,708 (GRCm39) |
I130N |
probably damaging |
Het |
Ccdc68 |
A |
G |
18: 70,073,241 (GRCm39) |
H63R |
probably damaging |
Het |
Ccl28 |
A |
G |
13: 120,112,429 (GRCm39) |
I74V |
probably benign |
Het |
Cd300ld |
T |
A |
11: 114,878,321 (GRCm39) |
I64F |
possibly damaging |
Het |
Cdkl2 |
G |
A |
5: 92,181,043 (GRCm39) |
Q199* |
probably null |
Het |
Cdkn2c |
C |
T |
4: 109,518,555 (GRCm39) |
R133Q |
probably benign |
Het |
Coq2 |
A |
G |
5: 100,811,586 (GRCm39) |
|
probably benign |
Het |
Coq6 |
T |
C |
12: 84,408,595 (GRCm39) |
|
probably null |
Het |
Csmd2 |
C |
T |
4: 128,356,519 (GRCm39) |
S1608L |
|
Het |
Cyp11b2 |
T |
A |
15: 74,727,837 (GRCm39) |
R82W |
probably damaging |
Het |
Cyp2d10 |
T |
C |
15: 82,289,462 (GRCm39) |
T217A |
probably benign |
Het |
Dclk2 |
C |
T |
3: 86,700,566 (GRCm39) |
R638H |
probably damaging |
Het |
Dnah7a |
T |
C |
1: 53,522,599 (GRCm39) |
I2880V |
possibly damaging |
Het |
Dync1h1 |
C |
A |
12: 110,623,512 (GRCm39) |
T3595K |
probably damaging |
Het |
Ecscr |
T |
A |
18: 35,848,478 (GRCm39) |
E183V |
probably damaging |
Het |
Elovl6 |
A |
G |
3: 129,398,755 (GRCm39) |
N52S |
probably benign |
Het |
Eps8l1 |
G |
T |
7: 4,477,190 (GRCm39) |
A455S |
probably benign |
Het |
Gpat2 |
A |
G |
2: 127,270,209 (GRCm39) |
N74S |
probably benign |
Het |
Gstk1 |
C |
A |
6: 42,226,407 (GRCm39) |
T172K |
probably damaging |
Het |
Gtf3c1 |
T |
C |
7: 125,295,731 (GRCm39) |
|
probably null |
Het |
Gucy2c |
T |
C |
6: 136,705,339 (GRCm39) |
D532G |
probably benign |
Het |
Hoxc12 |
T |
A |
15: 102,845,473 (GRCm39) |
N62K |
possibly damaging |
Het |
Hsdl1 |
C |
A |
8: 120,293,064 (GRCm39) |
A124S |
possibly damaging |
Het |
Il11 |
T |
C |
7: 4,778,995 (GRCm39) |
Y45C |
probably damaging |
Het |
Lcat |
C |
T |
8: 106,666,309 (GRCm39) |
M404I |
possibly damaging |
Het |
Ldhb |
A |
G |
6: 142,447,099 (GRCm39) |
F72L |
probably benign |
Het |
Map10 |
T |
C |
8: 126,398,662 (GRCm39) |
L685P |
probably damaging |
Het |
Me2 |
A |
G |
18: 73,927,961 (GRCm39) |
V174A |
probably benign |
Het |
Med13l |
C |
A |
5: 118,859,991 (GRCm39) |
Q328K |
possibly damaging |
Het |
Mta2 |
A |
T |
19: 8,925,139 (GRCm39) |
I336F |
probably damaging |
Het |
Mterf1a |
A |
T |
5: 3,941,769 (GRCm39) |
I33N |
probably damaging |
Het |
Myo15b |
T |
A |
11: 115,782,324 (GRCm39) |
|
probably null |
Het |
Myof |
C |
A |
19: 37,924,648 (GRCm39) |
G1215V |
probably damaging |
Het |
Nlgn2 |
G |
A |
11: 69,716,516 (GRCm39) |
T675M |
probably damaging |
Het |
Or1e26 |
T |
A |
11: 73,480,463 (GRCm39) |
M34L |
probably benign |
Het |
Or5p61 |
C |
A |
7: 107,758,848 (GRCm39) |
M77I |
probably benign |
Het |
Or6c38 |
T |
C |
10: 128,929,715 (GRCm39) |
I43V |
probably damaging |
Het |
Padi3 |
T |
C |
4: 140,527,435 (GRCm39) |
D122G |
probably damaging |
Het |
Pcnx3 |
G |
A |
19: 5,722,643 (GRCm39) |
R1350C |
probably damaging |
Het |
Pdzrn4 |
C |
A |
15: 92,295,384 (GRCm39) |
Q197K |
probably benign |
Het |
Pitpnm2 |
C |
T |
5: 124,267,324 (GRCm39) |
G639S |
possibly damaging |
Het |
Piwil4 |
T |
A |
9: 14,648,112 (GRCm39) |
K156* |
probably null |
Het |
Pkmyt1 |
T |
A |
17: 23,953,087 (GRCm39) |
H214Q |
probably damaging |
Het |
Pnpt1 |
G |
A |
11: 29,104,867 (GRCm39) |
R597Q |
probably benign |
Het |
Poteg |
C |
A |
8: 27,963,595 (GRCm39) |
A344E |
probably benign |
Het |
Rad21l |
A |
G |
2: 151,509,840 (GRCm39) |
M87T |
probably benign |
Het |
Rap1gap2 |
C |
A |
11: 74,283,057 (GRCm39) |
R681L |
probably damaging |
Het |
Rimbp2 |
C |
A |
5: 128,851,333 (GRCm39) |
R871L |
probably damaging |
Het |
Rnf135 |
T |
C |
11: 80,080,051 (GRCm39) |
V114A |
probably benign |
Het |
Skic2 |
T |
A |
17: 35,060,446 (GRCm39) |
H849L |
probably benign |
Het |
Snai2 |
A |
G |
16: 14,525,028 (GRCm39) |
H178R |
possibly damaging |
Het |
Stip1 |
C |
T |
19: 6,999,178 (GRCm39) |
G467S |
possibly damaging |
Het |
Taar1 |
A |
T |
10: 23,796,809 (GRCm39) |
E169V |
possibly damaging |
Het |
Tdrd12 |
G |
T |
7: 35,187,014 (GRCm39) |
D625E |
|
Het |
Tlr6 |
A |
G |
5: 65,111,119 (GRCm39) |
V596A |
probably benign |
Het |
Trak2 |
T |
G |
1: 58,942,749 (GRCm39) |
N886H |
probably damaging |
Het |
Tsga10 |
T |
A |
1: 37,879,695 (GRCm39) |
D32V |
probably damaging |
Het |
Vmn1r214 |
A |
G |
13: 23,219,196 (GRCm39) |
D230G |
probably damaging |
Het |
Vmn2r108 |
A |
G |
17: 20,682,762 (GRCm39) |
L814S |
probably damaging |
Het |
Zbbx |
T |
C |
3: 74,989,044 (GRCm39) |
D353G |
probably benign |
Het |
|
Other mutations in Ranbp17 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00509:Ranbp17
|
APN |
11 |
33,443,402 (GRCm39) |
missense |
probably benign |
0.13 |
IGL00582:Ranbp17
|
APN |
11 |
33,454,683 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL00698:Ranbp17
|
APN |
11 |
33,391,910 (GRCm39) |
missense |
probably benign |
0.00 |
IGL00789:Ranbp17
|
APN |
11 |
33,193,249 (GRCm39) |
missense |
probably benign |
0.27 |
IGL01304:Ranbp17
|
APN |
11 |
33,216,147 (GRCm39) |
missense |
possibly damaging |
0.91 |
IGL01936:Ranbp17
|
APN |
11 |
33,437,689 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01937:Ranbp17
|
APN |
11 |
33,278,520 (GRCm39) |
missense |
possibly damaging |
0.73 |
IGL01945:Ranbp17
|
APN |
11 |
33,278,520 (GRCm39) |
missense |
possibly damaging |
0.73 |
IGL01993:Ranbp17
|
APN |
11 |
33,450,770 (GRCm39) |
missense |
possibly damaging |
0.48 |
IGL02588:Ranbp17
|
APN |
11 |
33,167,361 (GRCm39) |
missense |
probably benign |
|
IGL02870:Ranbp17
|
APN |
11 |
33,193,262 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03149:Ranbp17
|
APN |
11 |
33,193,183 (GRCm39) |
missense |
possibly damaging |
0.76 |
PIT4445001:Ranbp17
|
UTSW |
11 |
33,431,020 (GRCm39) |
critical splice donor site |
probably null |
|
PIT4480001:Ranbp17
|
UTSW |
11 |
33,247,340 (GRCm39) |
critical splice donor site |
probably null |
|
R0079:Ranbp17
|
UTSW |
11 |
33,450,682 (GRCm39) |
missense |
probably damaging |
1.00 |
R0349:Ranbp17
|
UTSW |
11 |
33,450,689 (GRCm39) |
missense |
probably benign |
|
R0395:Ranbp17
|
UTSW |
11 |
33,424,896 (GRCm39) |
missense |
probably benign |
|
R1456:Ranbp17
|
UTSW |
11 |
33,216,310 (GRCm39) |
missense |
probably damaging |
1.00 |
R1539:Ranbp17
|
UTSW |
11 |
33,247,394 (GRCm39) |
missense |
probably damaging |
0.99 |
R1542:Ranbp17
|
UTSW |
11 |
33,214,672 (GRCm39) |
missense |
probably benign |
|
R1770:Ranbp17
|
UTSW |
11 |
33,167,301 (GRCm39) |
missense |
probably benign |
0.31 |
R2216:Ranbp17
|
UTSW |
11 |
33,431,125 (GRCm39) |
missense |
probably damaging |
1.00 |
R2656:Ranbp17
|
UTSW |
11 |
33,193,122 (GRCm39) |
missense |
probably benign |
|
R2883:Ranbp17
|
UTSW |
11 |
33,454,708 (GRCm39) |
missense |
probably damaging |
1.00 |
R3498:Ranbp17
|
UTSW |
11 |
33,169,203 (GRCm39) |
small deletion |
probably benign |
|
R3499:Ranbp17
|
UTSW |
11 |
33,169,203 (GRCm39) |
small deletion |
probably benign |
|
R3721:Ranbp17
|
UTSW |
11 |
33,169,203 (GRCm39) |
small deletion |
probably benign |
|
R3788:Ranbp17
|
UTSW |
11 |
33,169,203 (GRCm39) |
small deletion |
probably benign |
|
R3790:Ranbp17
|
UTSW |
11 |
33,169,203 (GRCm39) |
small deletion |
probably benign |
|
R3914:Ranbp17
|
UTSW |
11 |
33,429,189 (GRCm39) |
missense |
probably benign |
0.02 |
R3915:Ranbp17
|
UTSW |
11 |
33,429,189 (GRCm39) |
missense |
probably benign |
0.02 |
R3949:Ranbp17
|
UTSW |
11 |
33,429,189 (GRCm39) |
missense |
probably benign |
0.02 |
R4021:Ranbp17
|
UTSW |
11 |
33,429,189 (GRCm39) |
missense |
probably benign |
0.02 |
R4022:Ranbp17
|
UTSW |
11 |
33,429,189 (GRCm39) |
missense |
probably benign |
0.02 |
R4027:Ranbp17
|
UTSW |
11 |
33,450,718 (GRCm39) |
missense |
possibly damaging |
0.67 |
R4421:Ranbp17
|
UTSW |
11 |
33,425,056 (GRCm39) |
missense |
probably benign |
0.01 |
R4462:Ranbp17
|
UTSW |
11 |
33,167,421 (GRCm39) |
critical splice acceptor site |
probably null |
|
R4659:Ranbp17
|
UTSW |
11 |
33,216,288 (GRCm39) |
missense |
probably damaging |
1.00 |
R4791:Ranbp17
|
UTSW |
11 |
33,437,746 (GRCm39) |
missense |
probably benign |
0.11 |
R4837:Ranbp17
|
UTSW |
11 |
33,278,451 (GRCm39) |
missense |
probably damaging |
1.00 |
R4914:Ranbp17
|
UTSW |
11 |
33,163,425 (GRCm39) |
missense |
probably benign |
|
R4939:Ranbp17
|
UTSW |
11 |
33,169,223 (GRCm39) |
missense |
probably benign |
0.31 |
R5119:Ranbp17
|
UTSW |
11 |
33,354,181 (GRCm39) |
makesense |
probably null |
|
R5171:Ranbp17
|
UTSW |
11 |
33,167,419 (GRCm39) |
missense |
probably benign |
|
R5182:Ranbp17
|
UTSW |
11 |
33,169,287 (GRCm39) |
intron |
probably benign |
|
R5288:Ranbp17
|
UTSW |
11 |
33,169,241 (GRCm39) |
missense |
possibly damaging |
0.75 |
R5384:Ranbp17
|
UTSW |
11 |
33,169,241 (GRCm39) |
missense |
possibly damaging |
0.75 |
R5385:Ranbp17
|
UTSW |
11 |
33,169,241 (GRCm39) |
missense |
possibly damaging |
0.75 |
R5398:Ranbp17
|
UTSW |
11 |
33,424,998 (GRCm39) |
missense |
probably damaging |
1.00 |
R6658:Ranbp17
|
UTSW |
11 |
33,169,214 (GRCm39) |
nonsense |
probably null |
|
R6701:Ranbp17
|
UTSW |
11 |
33,425,066 (GRCm39) |
missense |
probably damaging |
1.00 |
R6796:Ranbp17
|
UTSW |
11 |
33,167,398 (GRCm39) |
missense |
probably benign |
|
R6869:Ranbp17
|
UTSW |
11 |
33,463,074 (GRCm39) |
start gained |
probably benign |
|
R7156:Ranbp17
|
UTSW |
11 |
33,247,420 (GRCm39) |
missense |
probably damaging |
1.00 |
R7451:Ranbp17
|
UTSW |
11 |
33,234,114 (GRCm39) |
splice site |
probably null |
|
R7958:Ranbp17
|
UTSW |
11 |
33,437,702 (GRCm39) |
missense |
probably damaging |
1.00 |
R9348:Ranbp17
|
UTSW |
11 |
33,429,232 (GRCm39) |
missense |
probably benign |
0.01 |
R9529:Ranbp17
|
UTSW |
11 |
33,424,826 (GRCm39) |
missense |
unknown |
|
RF016:Ranbp17
|
UTSW |
11 |
33,279,511 (GRCm39) |
missense |
probably damaging |
0.99 |
X0013:Ranbp17
|
UTSW |
11 |
33,239,562 (GRCm39) |
splice site |
probably null |
|
X0024:Ranbp17
|
UTSW |
11 |
33,163,404 (GRCm39) |
makesense |
probably null |
|
Z1176:Ranbp17
|
UTSW |
11 |
33,431,108 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CCATGATGAGTTGTTGCCTG -3'
(R):5'- ACCCTCTGGATGACACTGCTAC -3'
Sequencing Primer
(F):5'- GTCAAGTCACCAAAATATCAAATGG -3'
(R):5'- GGATGACACTGCTACCGTGTTC -3'
|
Posted On |
2019-05-15 |