Incidental Mutation 'R6869:Ranbp17'
| ID |
536099 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ranbp17
|
| Ensembl Gene |
ENSMUSG00000040594 |
| Gene Name |
RAN binding protein 17 |
| Synonyms |
4932704E15Rik |
| MMRRC Submission |
044966-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6869 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
33161795-33463746 bp(-) (GRCm39) |
| Type of Mutation |
start gained |
| DNA Base Change (assembly) |
T to C
at 33463074 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118519
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037522]
[ENSMUST00000102815]
[ENSMUST00000129179]
[ENSMUST00000147751]
|
| AlphaFold |
Q99NF8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037522
|
| SMART Domains |
Protein: ENSMUSP00000035840
Gene: ENSMUSG00000040594
| 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
|
| SMART Domains |
Protein: ENSMUSP00000099879
Gene: ENSMUSG00000040594
| 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
|
| SMART Domains |
Protein: ENSMUSP00000137898
Gene: ENSMUSG00000040594
| 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: ENSMUST00000147751
|
| SMART Domains |
Protein: ENSMUSP00000118519
Gene: ENSMUSG00000040594
| Domain | Start | End | E-Value | Type |
|---|
|
IBN_N
|
25 |
90 |
3.24e-5 |
SMART |
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.2%
|
| Validation Efficiency |
97% (61/63) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm5 |
A |
T |
4: 144,507,042 (GRCm39) |
|
probably null |
Het |
| Ankdd1b |
A |
T |
13: 96,580,799 (GRCm39) |
N166K |
possibly damaging |
Het |
| Arhgap30 |
G |
T |
1: 171,236,623 (GRCm39) |
R999L |
probably damaging |
Het |
| Bnc2 |
T |
A |
4: 84,211,733 (GRCm39) |
D212V |
probably damaging |
Het |
| Bpifb5 |
T |
C |
2: 154,075,143 (GRCm39) |
I357T |
probably benign |
Het |
| Catsperb |
T |
C |
12: 101,446,996 (GRCm39) |
F208S |
probably benign |
Het |
| Cc2d2b |
T |
A |
19: 40,797,898 (GRCm39) |
H1105Q |
probably benign |
Het |
| Chchd6 |
T |
C |
6: 89,572,478 (GRCm39) |
D17G |
probably damaging |
Het |
| Chd6 |
T |
C |
2: 160,807,650 (GRCm39) |
S1855G |
probably benign |
Het |
| Cpe |
A |
G |
8: 65,072,461 (GRCm39) |
V143A |
probably benign |
Het |
| Cyfip1 |
T |
A |
7: 55,557,113 (GRCm39) |
V770D |
possibly damaging |
Het |
| Cyp1a1 |
A |
T |
9: 57,610,067 (GRCm39) |
M494L |
probably benign |
Het |
| Dcstamp |
T |
C |
15: 39,617,854 (GRCm39) |
S88P |
probably damaging |
Het |
| Dnah2 |
T |
A |
11: 69,320,297 (GRCm39) |
N3924I |
probably damaging |
Het |
| F830045P16Rik |
T |
C |
2: 129,316,481 (GRCm39) |
E76G |
probably damaging |
Het |
| Fam91a1 |
T |
A |
15: 58,303,117 (GRCm39) |
V342E |
probably benign |
Het |
| Fastkd1 |
G |
A |
2: 69,533,104 (GRCm39) |
A421V |
probably benign |
Het |
| Fgf20 |
T |
C |
8: 40,734,189 (GRCm39) |
Y64C |
probably damaging |
Het |
| Gen1 |
A |
T |
12: 11,291,442 (GRCm39) |
N847K |
probably benign |
Het |
| Gm4922 |
A |
T |
10: 18,660,263 (GRCm39) |
I153K |
probably damaging |
Het |
| Gm6619 |
T |
C |
6: 131,463,401 (GRCm39) |
I6T |
unknown |
Het |
| H2-Ab1 |
T |
C |
17: 34,486,537 (GRCm39) |
Y199H |
probably damaging |
Het |
| Hdac7 |
C |
A |
15: 97,694,057 (GRCm39) |
L737F |
probably damaging |
Het |
| Hells |
A |
G |
19: 38,929,079 (GRCm39) |
N121D |
probably benign |
Het |
| Itga2 |
G |
A |
13: 115,012,073 (GRCm39) |
|
probably null |
Het |
| Itgb1 |
A |
G |
8: 129,446,516 (GRCm39) |
D391G |
probably benign |
Het |
| Lama5 |
G |
A |
2: 179,833,455 (GRCm39) |
P1519L |
probably damaging |
Het |
| Lbx1 |
T |
A |
19: 45,223,390 (GRCm39) |
S93C |
probably damaging |
Het |
| Lmod2 |
T |
C |
6: 24,604,126 (GRCm39) |
M367T |
probably benign |
Het |
| Lrrc43 |
G |
A |
5: 123,642,339 (GRCm39) |
|
probably null |
Het |
| Man2a2 |
C |
T |
7: 80,012,693 (GRCm39) |
G574D |
probably benign |
Het |
| Mier2 |
T |
G |
10: 79,378,503 (GRCm39) |
K343T |
probably damaging |
Het |
| Msh5 |
A |
T |
17: 35,260,810 (GRCm39) |
|
probably null |
Het |
| Mtus1 |
T |
C |
8: 41,535,691 (GRCm39) |
Q675R |
possibly damaging |
Het |
| Ncan |
A |
T |
8: 70,560,557 (GRCm39) |
H803Q |
probably benign |
Het |
| Nckap5l |
A |
G |
15: 99,324,334 (GRCm39) |
V723A |
probably damaging |
Het |
| Nectin3 |
G |
A |
16: 46,215,506 (GRCm39) |
R79C |
probably damaging |
Het |
| Nlrc5 |
A |
G |
8: 95,248,583 (GRCm39) |
E1735G |
probably benign |
Het |
| Nrros |
A |
G |
16: 31,963,249 (GRCm39) |
L220S |
probably damaging |
Het |
| Or52r1c |
G |
A |
7: 102,735,075 (GRCm39) |
V112M |
possibly damaging |
Het |
| Or5aq1b |
T |
A |
2: 86,902,017 (GRCm39) |
I154F |
probably benign |
Het |
| Oxa1l |
C |
T |
14: 54,604,195 (GRCm39) |
P152S |
probably damaging |
Het |
| Pdcd6ip |
A |
G |
9: 113,484,174 (GRCm39) |
Y818H |
unknown |
Het |
| Pik3cb |
A |
T |
9: 98,942,312 (GRCm39) |
S682T |
probably benign |
Het |
| Ppp1r3a |
A |
C |
6: 14,754,825 (GRCm39) |
S141A |
probably benign |
Het |
| Prrc2c |
TTGCTGCTGCTGCTGCTGCTGCTGCTGC |
TTGCTGCTGCTGCTGCTGCTGCTGC |
1: 162,536,630 (GRCm39) |
|
probably benign |
Het |
| Ptprk |
T |
C |
10: 28,349,055 (GRCm39) |
|
probably null |
Het |
| Rcbtb1 |
T |
C |
14: 59,455,051 (GRCm39) |
V95A |
probably benign |
Het |
| Retreg3 |
G |
A |
11: 101,010,644 (GRCm39) |
|
probably benign |
Het |
| Rhobtb1 |
T |
C |
10: 69,106,056 (GRCm39) |
L207P |
probably damaging |
Het |
| Rsf1 |
GGCG |
GGCGACGGCTGCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Het |
| Sh3bgr |
A |
G |
16: 96,007,860 (GRCm39) |
Y75C |
probably damaging |
Het |
| Strip1 |
T |
C |
3: 107,520,761 (GRCm39) |
D763G |
probably damaging |
Het |
| Stxbp5l |
A |
T |
16: 37,024,810 (GRCm39) |
V596E |
possibly damaging |
Het |
| Tas2r138 |
A |
G |
6: 40,589,355 (GRCm39) |
I297T |
probably damaging |
Het |
| Topors |
A |
C |
4: 40,261,201 (GRCm39) |
N694K |
unknown |
Het |
| Tymp |
T |
C |
15: 89,260,894 (GRCm39) |
R20G |
probably benign |
Het |
| Ubr4 |
A |
G |
4: 139,194,538 (GRCm39) |
T1144A |
possibly damaging |
Het |
| Unc79 |
A |
T |
12: 103,079,331 (GRCm39) |
Q1636L |
probably benign |
Het |
| Vmn1r78 |
A |
G |
7: 11,886,676 (GRCm39) |
M96V |
probably benign |
Het |
| Wfdc8 |
C |
T |
2: 164,441,012 (GRCm39) |
D244N |
possibly damaging |
Het |
| Zbtb49 |
G |
T |
5: 38,371,694 (GRCm39) |
N62K |
probably damaging |
Het |
| Zfp579 |
G |
T |
7: 4,997,460 (GRCm39) |
D150E |
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 |
|
|
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'- TCCCTGAGAGTACAAGGCAG -3'
(R):5'- AGATGGCGCTGCACTTTCAG -3'
Sequencing Primer
(F):5'- TACAAGGCAGCGAGTTTGC -3'
(R):5'- AGAGGACTGTCATTGGCCG -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation