Incidental Mutation 'R6701:Ranbp17'
| ID |
528760 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ranbp17
|
| Ensembl Gene |
ENSMUSG00000040594 |
| Gene Name |
RAN binding protein 17 |
| Synonyms |
4932704E15Rik |
| MMRRC Submission |
044819-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6701 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
33161795-33463746 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 33425066 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 430
(D430G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137898
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037522]
[ENSMUST00000102815]
[ENSMUST00000129179]
|
| AlphaFold |
Q99NF8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000037522
AA Change: D430G
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000035840
Gene: ENSMUSG00000040594
AA Change: D430G
| 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 damaging
Transcript: ENSMUST00000102815
AA Change: D430G
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000099879
Gene: ENSMUSG00000040594
AA Change: D430G
| 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 damaging
Transcript: ENSMUST00000129179
AA Change: D430G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000137898
Gene: ENSMUSG00000040594
AA Change: D430G
| Domain | Start | End | E-Value | Type |
|---|
|
IBN_N
|
30 |
95 |
3.24e-5 |
SMART |
|
low complexity region
|
270 |
283 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.4%
- 20x: 96.0%
|
| Validation Efficiency |
|
| 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: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap12 |
A |
T |
10: 4,305,243 (GRCm39) |
K684N |
probably damaging |
Het |
| Akna |
C |
T |
4: 63,313,517 (GRCm39) |
G202D |
probably benign |
Het |
| Alpk1 |
T |
A |
3: 127,522,985 (GRCm39) |
D19V |
probably damaging |
Het |
| Arid4a |
A |
T |
12: 71,134,286 (GRCm39) |
K1196I |
probably damaging |
Het |
| Asic3 |
A |
T |
5: 24,619,127 (GRCm39) |
M140L |
possibly damaging |
Het |
| Bfsp2 |
C |
T |
9: 103,357,077 (GRCm39) |
V117M |
possibly damaging |
Het |
| Bltp3a |
T |
A |
17: 28,106,331 (GRCm39) |
C952* |
probably null |
Het |
| Cd244a |
C |
A |
1: 171,401,723 (GRCm39) |
L150M |
possibly damaging |
Het |
| Cd3e |
T |
C |
9: 44,912,351 (GRCm39) |
Y131C |
probably damaging |
Het |
| Clptm1l |
T |
C |
13: 73,757,025 (GRCm39) |
I202T |
probably benign |
Het |
| Cnot4 |
G |
T |
6: 35,045,539 (GRCm39) |
T224K |
probably damaging |
Het |
| Col24a1 |
A |
G |
3: 145,020,141 (GRCm39) |
T171A |
probably benign |
Het |
| Col6a3 |
C |
T |
1: 90,720,184 (GRCm39) |
R1552Q |
probably benign |
Het |
| Dcc |
T |
A |
18: 71,942,191 (GRCm39) |
T309S |
probably benign |
Het |
| Ddx21 |
T |
C |
10: 62,426,470 (GRCm39) |
Y461C |
probably damaging |
Het |
| Dnah10 |
G |
A |
5: 124,837,223 (GRCm39) |
V989M |
probably benign |
Het |
| Dppa4 |
A |
T |
16: 48,111,674 (GRCm39) |
K220* |
probably null |
Het |
| Dysf |
G |
A |
6: 84,089,172 (GRCm39) |
G912S |
probably damaging |
Het |
| Efhb |
A |
T |
17: 53,706,091 (GRCm39) |
N815K |
probably benign |
Het |
| Eml6 |
T |
A |
11: 29,735,748 (GRCm39) |
L1139F |
probably damaging |
Het |
| Eprs1 |
T |
G |
1: 185,103,087 (GRCm39) |
I78S |
probably damaging |
Het |
| Fat1 |
C |
A |
8: 45,403,718 (GRCm39) |
S156R |
probably damaging |
Het |
| Firrm |
T |
C |
1: 163,799,412 (GRCm39) |
|
probably null |
Het |
| Frzb |
G |
A |
2: 80,277,163 (GRCm39) |
R8W |
possibly damaging |
Het |
| Guf1 |
T |
A |
5: 69,715,596 (GRCm39) |
D47E |
probably damaging |
Het |
| Haus3 |
A |
T |
5: 34,325,078 (GRCm39) |
F194I |
probably damaging |
Het |
| Hivep3 |
C |
T |
4: 119,951,737 (GRCm39) |
R18W |
probably damaging |
Het |
| Hnf1b |
A |
G |
11: 83,779,920 (GRCm39) |
T392A |
probably damaging |
Het |
| Hsd17b1 |
C |
A |
11: 100,970,981 (GRCm39) |
C312* |
probably null |
Het |
| Ighg2b |
T |
C |
12: 113,270,699 (GRCm39) |
T144A |
unknown |
Het |
| Iqub |
T |
A |
6: 24,449,744 (GRCm39) |
N707I |
probably damaging |
Het |
| Irag2 |
G |
T |
6: 145,090,702 (GRCm39) |
E61* |
probably null |
Het |
| Jhy |
T |
C |
9: 40,828,887 (GRCm39) |
R340G |
probably damaging |
Het |
| Klra3 |
C |
G |
6: 130,307,216 (GRCm39) |
V144L |
probably benign |
Het |
| Lamp5 |
C |
G |
2: 135,901,483 (GRCm39) |
N102K |
possibly damaging |
Het |
| Lrrc4 |
A |
G |
6: 28,830,905 (GRCm39) |
F237L |
possibly damaging |
Het |
| Lyst |
T |
A |
13: 13,856,070 (GRCm39) |
C2464S |
probably benign |
Het |
| Maml1 |
T |
C |
11: 50,157,509 (GRCm39) |
E222G |
probably damaging |
Het |
| Med15 |
C |
T |
16: 17,489,447 (GRCm39) |
|
probably benign |
Het |
| Naalad2 |
T |
C |
9: 18,296,444 (GRCm39) |
I69V |
probably null |
Het |
| Neb |
T |
C |
2: 52,181,220 (GRCm39) |
K1129R |
probably damaging |
Het |
| Nsun6 |
A |
T |
2: 15,041,113 (GRCm39) |
N159K |
probably benign |
Het |
| Nup153 |
A |
T |
13: 46,840,541 (GRCm39) |
N1022K |
probably benign |
Het |
| Or1e29 |
T |
C |
11: 73,667,296 (GRCm39) |
N286D |
probably damaging |
Het |
| Or5g9 |
A |
G |
2: 85,552,675 (GRCm39) |
K309E |
probably benign |
Het |
| Or5w15 |
C |
T |
2: 87,567,753 (GRCm39) |
R305K |
probably benign |
Het |
| Otof |
T |
A |
5: 30,528,141 (GRCm39) |
K1901* |
probably null |
Het |
| Pde1c |
A |
T |
6: 56,158,685 (GRCm39) |
Y136N |
probably damaging |
Het |
| Phc1 |
G |
T |
6: 122,302,733 (GRCm39) |
N263K |
probably damaging |
Het |
| Plxna1 |
A |
T |
6: 89,296,430 (GRCm39) |
D1871E |
probably damaging |
Het |
| Prdm6 |
T |
A |
18: 53,669,751 (GRCm39) |
M123K |
possibly damaging |
Het |
| Rsl24d1 |
C |
A |
9: 73,022,279 (GRCm39) |
T287K |
probably damaging |
Het |
| Scn1a |
G |
A |
2: 66,168,304 (GRCm39) |
R101W |
probably damaging |
Het |
| Scn8a |
A |
G |
15: 100,937,977 (GRCm39) |
D1741G |
probably damaging |
Het |
| Serpinb1c |
T |
C |
13: 33,080,924 (GRCm39) |
Q53R |
probably benign |
Het |
| Serpinf2 |
C |
T |
11: 75,323,269 (GRCm39) |
R479H |
probably damaging |
Het |
| Sis |
T |
A |
3: 72,856,860 (GRCm39) |
D448V |
probably damaging |
Het |
| Slc27a6 |
T |
A |
18: 58,712,947 (GRCm39) |
D256E |
probably benign |
Het |
| Slc30a8 |
A |
G |
15: 52,194,970 (GRCm39) |
Y243C |
possibly damaging |
Het |
| Slc35f5 |
T |
C |
1: 125,490,347 (GRCm39) |
V103A |
probably damaging |
Het |
| Slc44a2 |
T |
C |
9: 21,232,149 (GRCm39) |
|
probably null |
Het |
| Slc7a9 |
T |
C |
7: 35,159,274 (GRCm39) |
L327P |
probably damaging |
Het |
| Stat4 |
A |
G |
1: 52,142,133 (GRCm39) |
Y660C |
probably damaging |
Het |
| Terb1 |
T |
C |
8: 105,199,388 (GRCm39) |
T519A |
possibly damaging |
Het |
| Tonsl |
A |
T |
15: 76,513,500 (GRCm39) |
S1245T |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,619,162 (GRCm39) |
S16072R |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,739,590 (GRCm39) |
Y3650N |
probably benign |
Het |
| Uso1 |
T |
C |
5: 92,314,444 (GRCm39) |
F117S |
probably damaging |
Het |
| Vmn1r211 |
T |
C |
13: 23,035,779 (GRCm39) |
H296R |
probably benign |
Het |
| Vmn2r67 |
G |
A |
7: 84,802,023 (GRCm39) |
P93S |
probably damaging |
Het |
| Xirp2 |
A |
T |
2: 67,346,569 (GRCm39) |
I2937F |
possibly damaging |
Het |
| Zc2hc1c |
C |
A |
12: 85,336,446 (GRCm39) |
|
probably null |
Het |
| Zfp12 |
T |
C |
5: 143,230,219 (GRCm39) |
V182A |
probably benign |
Het |
| Zfp473 |
G |
T |
7: 44,382,218 (GRCm39) |
A705D |
possibly damaging |
Het |
| Zfp937 |
G |
T |
2: 150,081,136 (GRCm39) |
G389C |
probably damaging |
Het |
| Zfp990 |
A |
G |
4: 145,264,748 (GRCm39) |
D582G |
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 |
|
|
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'- ATCGCCATGTCAACAGCCAG -3'
(R):5'- GAGCAGCAGGTTTGTATTTTGAACTAG -3'
Sequencing Primer
(F):5'- TGTCAACAGCCAGCCCCG -3'
(R):5'- TGTAGACCAGACTGGCCTTGAAC -3'
|
| Posted On |
2018-07-24 |
Incidental Mutation