Incidental Mutation 'R4027:Ranbp17'
ID |
313047 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ranbp17
|
Ensembl Gene |
ENSMUSG00000040594 |
Gene Name |
RAN binding protein 17 |
Synonyms |
4932704E15Rik |
MMRRC Submission |
040850-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4027 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
33161795-33463746 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 33450718 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glutamine
at position 73
(R73Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099879
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037522]
[ENSMUST00000102815]
[ENSMUST00000129179]
[ENSMUST00000147751]
|
AlphaFold |
Q99NF8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000037522
AA Change: R73Q
PolyPhen 2
Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000035840 Gene: ENSMUSG00000040594 AA Change: R73Q
Domain | Start | End | E-Value | Type |
IBN_N
|
30 |
95 |
3.24e-5 |
SMART |
low complexity region
|
270 |
283 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000102815
AA Change: R73Q
PolyPhen 2
Score 0.666 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000099879 Gene: ENSMUSG00000040594 AA Change: R73Q
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: R73Q
PolyPhen 2
Score 0.102 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000137898 Gene: ENSMUSG00000040594 AA Change: R73Q
Domain | Start | End | E-Value | Type |
IBN_N
|
30 |
95 |
3.24e-5 |
SMART |
low complexity region
|
270 |
283 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000147751
AA Change: R68Q
PolyPhen 2
Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000118519 Gene: ENSMUSG00000040594 AA Change: R68Q
Domain | Start | End | E-Value | Type |
IBN_N
|
25 |
90 |
3.24e-5 |
SMART |
|
Meta Mutation Damage Score |
0.0634 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
Validation Efficiency |
97% (60/62) |
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930402F06Rik |
A |
G |
2: 35,270,408 (GRCm39) |
F98L |
probably damaging |
Het |
Adam26b |
T |
C |
8: 43,973,409 (GRCm39) |
N531S |
probably benign |
Het |
Ahdc1 |
T |
C |
4: 132,791,476 (GRCm39) |
S906P |
possibly damaging |
Het |
Ank |
A |
G |
15: 27,544,343 (GRCm39) |
N35D |
probably damaging |
Het |
Ano10 |
A |
G |
9: 122,081,994 (GRCm39) |
|
probably benign |
Het |
Atp4a |
T |
C |
7: 30,424,377 (GRCm39) |
|
probably null |
Het |
C030005K15Rik |
T |
C |
10: 97,561,404 (GRCm39) |
Y109C |
unknown |
Het |
Carmil1 |
T |
A |
13: 24,251,206 (GRCm39) |
|
probably benign |
Het |
Ccl2 |
A |
G |
11: 81,927,885 (GRCm39) |
R110G |
probably benign |
Het |
Cntnap2 |
C |
A |
6: 46,833,062 (GRCm39) |
F758L |
probably benign |
Het |
Cog6 |
A |
C |
3: 52,909,950 (GRCm39) |
D267E |
possibly damaging |
Het |
Cyp4f37 |
G |
T |
17: 32,850,646 (GRCm39) |
E366D |
probably benign |
Het |
Dcun1d4 |
A |
G |
5: 73,691,980 (GRCm39) |
D89G |
probably damaging |
Het |
Dpep1 |
T |
C |
8: 123,920,892 (GRCm39) |
V24A |
probably benign |
Het |
Eefsec |
T |
C |
6: 88,353,232 (GRCm39) |
I48V |
probably benign |
Het |
Elmo2 |
G |
A |
2: 165,136,169 (GRCm39) |
Q195* |
probably null |
Het |
Ephb3 |
A |
G |
16: 21,040,447 (GRCm39) |
D561G |
probably damaging |
Het |
Erich2 |
C |
A |
2: 70,343,134 (GRCm39) |
|
probably benign |
Het |
Gatm |
A |
G |
2: 122,427,927 (GRCm39) |
V362A |
probably damaging |
Het |
Gdf10 |
A |
G |
14: 33,654,572 (GRCm39) |
M360V |
probably damaging |
Het |
Gpr141 |
T |
C |
13: 19,935,995 (GRCm39) |
N260S |
probably benign |
Het |
Hectd1 |
T |
A |
12: 51,849,219 (GRCm39) |
|
probably null |
Het |
Insrr |
A |
G |
3: 87,716,906 (GRCm39) |
E682G |
probably benign |
Het |
Itgax |
A |
G |
7: 127,740,438 (GRCm39) |
I742V |
possibly damaging |
Het |
Kcnh1 |
T |
C |
1: 191,959,007 (GRCm39) |
V187A |
probably benign |
Het |
Kdm6b |
G |
T |
11: 69,297,094 (GRCm39) |
S419R |
possibly damaging |
Het |
Kmt2a |
A |
T |
9: 44,747,990 (GRCm39) |
|
probably benign |
Het |
Krt10 |
A |
G |
11: 99,277,019 (GRCm39) |
|
probably benign |
Het |
Lct |
G |
A |
1: 128,212,918 (GRCm39) |
R1912C |
probably benign |
Het |
Lefty1 |
T |
C |
1: 180,765,346 (GRCm39) |
S305P |
probably benign |
Het |
Mast3 |
A |
G |
8: 71,240,552 (GRCm39) |
L279P |
probably damaging |
Het |
Mfsd4b3-ps |
T |
C |
10: 39,823,343 (GRCm39) |
T306A |
probably benign |
Het |
Mgam |
G |
A |
6: 40,731,836 (GRCm39) |
R1351Q |
probably damaging |
Het |
Mknk1 |
T |
A |
4: 115,721,758 (GRCm39) |
F101I |
probably damaging |
Het |
Mlc1 |
T |
C |
15: 88,850,697 (GRCm39) |
I154V |
probably benign |
Het |
Myo5b |
T |
C |
18: 74,892,311 (GRCm39) |
I1685T |
possibly damaging |
Het |
Nacc2 |
T |
A |
2: 25,950,348 (GRCm39) |
M463L |
probably benign |
Het |
Nek11 |
A |
C |
9: 105,121,589 (GRCm39) |
Y443* |
probably null |
Het |
Nme4 |
T |
C |
17: 26,313,196 (GRCm39) |
|
probably null |
Het |
Nova1 |
A |
G |
12: 46,863,801 (GRCm39) |
|
probably benign |
Het |
Or52h9 |
A |
T |
7: 104,202,530 (GRCm39) |
I135F |
possibly damaging |
Het |
Parp10 |
A |
G |
15: 76,125,354 (GRCm39) |
|
probably null |
Het |
Pkd1l3 |
T |
A |
8: 110,350,603 (GRCm39) |
S483T |
possibly damaging |
Het |
Plce1 |
T |
C |
19: 38,512,709 (GRCm39) |
S3P |
probably damaging |
Het |
Pnldc1 |
T |
C |
17: 13,109,666 (GRCm39) |
D400G |
probably benign |
Het |
Polr2b |
G |
A |
5: 77,496,252 (GRCm39) |
R1141H |
possibly damaging |
Het |
Prmt6 |
A |
G |
3: 110,157,257 (GRCm39) |
I344T |
probably damaging |
Het |
Psmd2 |
G |
A |
16: 20,481,955 (GRCm39) |
G896D |
probably damaging |
Het |
Rcn1 |
G |
T |
2: 105,229,395 (GRCm39) |
Y52* |
probably null |
Het |
Reck |
T |
C |
4: 43,922,931 (GRCm39) |
I402T |
probably damaging |
Het |
Tecpr1 |
C |
A |
5: 144,143,077 (GRCm39) |
A735S |
probably benign |
Het |
Tshz1 |
T |
C |
18: 84,032,954 (GRCm39) |
K485E |
possibly damaging |
Het |
Ube4a |
G |
A |
9: 44,861,198 (GRCm39) |
|
probably benign |
Het |
Vldlr |
A |
G |
19: 27,215,713 (GRCm39) |
T237A |
probably benign |
Het |
Vmn1r74 |
C |
A |
7: 11,580,898 (GRCm39) |
T66K |
probably damaging |
Het |
Wdr49 |
C |
A |
3: 75,230,972 (GRCm39) |
L563F |
probably benign |
Het |
Zmym1 |
C |
T |
4: 126,943,672 (GRCm39) |
V239I |
probably benign |
Het |
Zmym5 |
T |
A |
14: 57,035,268 (GRCm39) |
T267S |
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 |
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 |
|
R7096:Ranbp17
|
UTSW |
11 |
33,424,896 (GRCm39) |
missense |
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'- TCATCATCACTGCAGGAATAAGAC -3'
(R):5'- CCATGATCTTTTATGAGAGAGGAGTG -3'
Sequencing Primer
(F):5'- TCATCACTGCAGGAATAAGACTTAAC -3'
(R):5'- ATCTTTTATGAGAGAGGAGTGTGTGC -3'
|
Posted On |
2015-04-30 |