Incidental Mutation 'R4837:Ranbp17'
| ID |
374350 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ranbp17
|
| Ensembl Gene |
ENSMUSG00000040594 |
| Gene Name |
RAN binding protein 17 |
| Synonyms |
4932704E15Rik |
| MMRRC Submission |
042452-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4837 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
33161795-33463746 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 33278451 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 139
(S139P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147123
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102815]
[ENSMUST00000129179]
[ENSMUST00000207401]
|
| AlphaFold |
Q99NF8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000102815
AA Change: S620P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000099879
Gene: ENSMUSG00000040594
AA Change: S620P
| 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 |
noncoding transcript
Transcript: ENSMUST00000154808
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000207401
AA Change: S139P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.4415 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.9%
|
| Validation Efficiency |
99% (75/76) |
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
A |
T |
7: 119,846,203 (GRCm39) |
H618L |
probably benign |
Het |
| Adgrl3 |
A |
G |
5: 81,914,081 (GRCm39) |
T1230A |
probably benign |
Het |
| Ahnak2 |
A |
G |
12: 112,749,359 (GRCm39) |
S203P |
probably benign |
Het |
| Allc |
A |
G |
12: 28,609,308 (GRCm39) |
V244A |
probably benign |
Het |
| Ap3m1 |
G |
A |
14: 21,087,225 (GRCm39) |
P157L |
probably damaging |
Het |
| Arhgef2 |
T |
G |
3: 88,540,250 (GRCm39) |
I97S |
probably damaging |
Het |
| Btaf1 |
C |
A |
19: 36,944,185 (GRCm39) |
T398K |
probably benign |
Het |
| Cabp1 |
T |
C |
5: 115,311,212 (GRCm39) |
M158V |
probably damaging |
Het |
| Ccdc162 |
G |
A |
10: 41,549,863 (GRCm39) |
P340L |
probably benign |
Het |
| Ccdc168 |
G |
A |
1: 44,100,594 (GRCm39) |
T168I |
possibly damaging |
Het |
| Clip4 |
A |
G |
17: 72,141,217 (GRCm39) |
K524E |
probably damaging |
Het |
| Cltc |
A |
G |
11: 86,586,474 (GRCm39) |
V189A |
probably benign |
Het |
| Cmc2 |
A |
G |
8: 117,620,879 (GRCm39) |
F34S |
probably damaging |
Het |
| Ctcfl |
G |
T |
2: 172,955,449 (GRCm39) |
T271N |
probably benign |
Het |
| Cyp4f16 |
T |
A |
17: 32,761,738 (GRCm39) |
F124I |
possibly damaging |
Het |
| Ddx41 |
C |
A |
13: 55,679,461 (GRCm39) |
R479L |
possibly damaging |
Het |
| Dgcr6 |
C |
A |
16: 17,884,710 (GRCm39) |
N87K |
possibly damaging |
Het |
| Dll1 |
A |
G |
17: 15,589,121 (GRCm39) |
L518P |
probably damaging |
Het |
| Dnaja4 |
G |
T |
9: 54,617,928 (GRCm39) |
M263I |
probably benign |
Het |
| Dusp13b |
T |
A |
14: 21,793,593 (GRCm39) |
|
probably benign |
Het |
| Fam185a |
T |
A |
5: 21,685,375 (GRCm39) |
I357N |
probably benign |
Het |
| Fam186a |
T |
C |
15: 99,838,678 (GRCm39) |
Y2522C |
unknown |
Het |
| Fam222a |
T |
A |
5: 114,732,458 (GRCm39) |
C4* |
probably null |
Het |
| Filip1 |
T |
C |
9: 79,726,741 (GRCm39) |
D626G |
probably damaging |
Het |
| Ghrhr |
C |
T |
6: 55,365,172 (GRCm39) |
R389C |
probably damaging |
Het |
| Gstm3 |
T |
A |
3: 107,871,531 (GRCm39) |
T217S |
probably benign |
Het |
| Gucy2g |
T |
C |
19: 55,214,485 (GRCm39) |
T548A |
probably benign |
Het |
| Hectd3 |
T |
A |
4: 116,859,794 (GRCm39) |
C744S |
probably null |
Het |
| Hnrnpl |
T |
C |
7: 28,516,762 (GRCm39) |
S184P |
probably benign |
Het |
| Il3 |
G |
A |
11: 54,158,083 (GRCm39) |
|
probably benign |
Het |
| Itga5 |
C |
T |
15: 103,262,511 (GRCm39) |
G330S |
probably damaging |
Het |
| Kl |
A |
G |
5: 150,904,312 (GRCm39) |
T355A |
possibly damaging |
Het |
| Lipk |
A |
C |
19: 34,009,720 (GRCm39) |
S208R |
probably damaging |
Het |
| Mrs2 |
T |
A |
13: 25,183,040 (GRCm39) |
|
probably null |
Het |
| Mutyh |
A |
G |
4: 116,674,887 (GRCm39) |
E372G |
probably damaging |
Het |
| Myh4 |
C |
A |
11: 67,149,818 (GRCm39) |
A1821D |
probably benign |
Het |
| Nfkb2 |
G |
T |
19: 46,296,006 (GRCm39) |
E170D |
probably benign |
Het |
| Nlrp12 |
T |
C |
7: 3,279,693 (GRCm39) |
E881G |
probably damaging |
Het |
| Nol9 |
T |
C |
4: 152,136,552 (GRCm39) |
|
probably benign |
Het |
| Nwd1 |
A |
G |
8: 73,383,759 (GRCm39) |
E52G |
probably damaging |
Het |
| Opn4 |
A |
G |
14: 34,318,261 (GRCm39) |
V242A |
probably damaging |
Het |
| Or4e1 |
A |
T |
14: 52,701,103 (GRCm39) |
M121K |
probably damaging |
Het |
| Or4k44 |
T |
A |
2: 111,368,319 (GRCm39) |
H105L |
probably damaging |
Het |
| Or5m13 |
A |
G |
2: 85,748,748 (GRCm39) |
T160A |
probably benign |
Het |
| Or6b1 |
T |
G |
6: 42,814,783 (GRCm39) |
|
probably null |
Het |
| Or6b2b |
A |
G |
1: 92,418,697 (GRCm39) |
V260A |
probably benign |
Het |
| Paxbp1 |
G |
A |
16: 90,831,866 (GRCm39) |
Q341* |
probably null |
Het |
| Pcdh7 |
T |
C |
5: 57,877,753 (GRCm39) |
V436A |
possibly damaging |
Het |
| Pcdhb18 |
G |
A |
18: 37,622,867 (GRCm39) |
V66M |
probably damaging |
Het |
| Pikfyve |
A |
G |
1: 65,285,749 (GRCm39) |
E951G |
possibly damaging |
Het |
| Plcg1 |
A |
G |
2: 160,592,906 (GRCm39) |
N179S |
probably benign |
Het |
| Prr11 |
A |
C |
11: 86,989,517 (GRCm39) |
S285A |
probably benign |
Het |
| Rasa4 |
G |
A |
5: 136,120,664 (GRCm39) |
|
probably null |
Het |
| Rnf213 |
G |
C |
11: 119,333,589 (GRCm39) |
G2934R |
probably benign |
Het |
| Rpap1 |
A |
G |
2: 119,608,732 (GRCm39) |
V210A |
probably benign |
Het |
| Rpn1 |
T |
A |
6: 88,067,187 (GRCm39) |
N182K |
probably benign |
Het |
| Rps24 |
C |
T |
14: 24,541,855 (GRCm39) |
T14I |
possibly damaging |
Het |
| Rrp12 |
C |
T |
19: 41,865,944 (GRCm39) |
|
probably null |
Het |
| Rttn |
T |
A |
18: 89,108,539 (GRCm39) |
|
probably null |
Het |
| Rufy1 |
A |
G |
11: 50,292,320 (GRCm39) |
S490P |
probably damaging |
Het |
| Sec62 |
T |
A |
3: 30,864,018 (GRCm39) |
M100K |
unknown |
Het |
| Spata16 |
A |
G |
3: 26,787,081 (GRCm39) |
H253R |
possibly damaging |
Het |
| Srcap |
T |
C |
7: 127,158,134 (GRCm39) |
|
probably benign |
Het |
| Srrm1 |
A |
G |
4: 135,072,823 (GRCm39) |
|
probably benign |
Het |
| Tbcd |
G |
A |
11: 121,473,611 (GRCm39) |
|
probably null |
Het |
| Tedc2 |
C |
A |
17: 24,439,567 (GRCm39) |
A25S |
probably damaging |
Het |
| Tnr |
A |
T |
1: 159,512,358 (GRCm39) |
|
probably benign |
Het |
| Tnxb |
A |
C |
17: 34,936,981 (GRCm39) |
D3730A |
probably damaging |
Het |
| Tor2a |
G |
A |
2: 32,650,609 (GRCm39) |
G201D |
probably damaging |
Het |
| Tpp1 |
T |
C |
7: 105,395,856 (GRCm39) |
T558A |
probably benign |
Het |
| Vmn1r211 |
G |
T |
13: 23,036,296 (GRCm39) |
Q124K |
probably benign |
Het |
| Wasf3 |
T |
C |
5: 146,397,788 (GRCm39) |
V185A |
probably benign |
Het |
| Zbtb12 |
A |
G |
17: 35,114,985 (GRCm39) |
T257A |
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 |
|
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'- AGCATGTGCCTTTCTTCAAGTTAG -3'
(R):5'- CTTTGTGATTGAAGGCACCTAAC -3'
Sequencing Primer
(F):5'- GTGCCTTTCTTCAAGTTAGTTACATG -3'
(R):5'- GAAGGCACCTAACTTACATGTG -3'
|
| Posted On |
2016-03-01 |
Incidental Mutation