Incidental Mutation 'PIT4445001:Ranbp17'
ID |
555419 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ranbp17
|
Ensembl Gene |
ENSMUSG00000040594 |
Gene Name |
RAN binding protein 17 |
Synonyms |
4932704E15Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
PIT4445001 (G1)
|
Quality Score |
193.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
33161795-33463746 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to G
at 33431020 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099879
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037522]
[ENSMUST00000102815]
[ENSMUST00000129179]
|
AlphaFold |
Q99NF8 |
Predicted Effect |
probably null
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 null
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 |
|
Coding Region Coverage |
- 1x: 93.5%
- 3x: 90.8%
- 10x: 84.5%
- 20x: 70.9%
|
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: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8a |
T |
C |
11: 109,966,377 (GRCm39) |
K419E |
probably damaging |
Het |
Adam7 |
T |
A |
14: 68,747,197 (GRCm39) |
K587N |
possibly damaging |
Het |
Agl |
T |
C |
3: 116,565,109 (GRCm39) |
M382V |
|
Het |
Agpat3 |
A |
T |
10: 78,109,927 (GRCm39) |
F341I |
possibly damaging |
Het |
Ampd2 |
A |
T |
3: 107,982,328 (GRCm39) |
L767Q |
probably damaging |
Het |
Arhgap28 |
A |
T |
17: 68,203,230 (GRCm39) |
D124E |
possibly damaging |
Het |
Arhgap32 |
T |
C |
9: 32,172,152 (GRCm39) |
L1644P |
probably damaging |
Het |
Asic4 |
T |
C |
1: 75,427,771 (GRCm39) |
V99A |
probably benign |
Het |
Asns |
T |
A |
6: 7,689,277 (GRCm39) |
N75I |
probably damaging |
Het |
Atp10a |
A |
G |
7: 58,453,215 (GRCm39) |
D798G |
probably damaging |
Het |
Atp8a1 |
A |
G |
5: 67,780,003 (GRCm39) |
V1145A |
|
Het |
Ccdc171 |
A |
G |
4: 83,579,984 (GRCm39) |
Q577R |
probably damaging |
Het |
Cd247 |
T |
A |
1: 165,688,605 (GRCm39) |
D154E |
probably damaging |
Het |
Ceacam1 |
A |
T |
7: 25,175,881 (GRCm39) |
N104K |
probably damaging |
Het |
Chfr |
A |
G |
5: 110,299,543 (GRCm39) |
D312G |
possibly damaging |
Het |
Ddb1 |
C |
A |
19: 10,603,334 (GRCm39) |
L881I |
probably damaging |
Het |
Dgkh |
A |
T |
14: 78,813,382 (GRCm39) |
I1032N |
possibly damaging |
Het |
Efcab6 |
A |
T |
15: 83,788,468 (GRCm39) |
V942D |
probably benign |
Het |
Fmo5 |
A |
G |
3: 97,558,844 (GRCm39) |
T435A |
probably benign |
Het |
Fpr1 |
T |
C |
17: 18,097,155 (GRCm39) |
Q278R |
probably benign |
Het |
Fzr1 |
C |
T |
10: 81,205,228 (GRCm39) |
W256* |
probably null |
Het |
Gabrb1 |
T |
C |
5: 72,266,125 (GRCm39) |
S261P |
probably damaging |
Het |
Galr2 |
G |
T |
11: 116,172,474 (GRCm39) |
A55S |
probably benign |
Het |
Gbp2 |
A |
T |
3: 142,343,227 (GRCm39) |
K581N |
probably benign |
Het |
Gria1 |
A |
T |
11: 57,076,664 (GRCm39) |
Y89F |
probably damaging |
Het |
Ibsp |
T |
A |
5: 104,450,170 (GRCm39) |
I26N |
possibly damaging |
Het |
Igf1r |
T |
C |
7: 67,857,211 (GRCm39) |
F1058L |
probably damaging |
Het |
Ighv1-16 |
A |
C |
12: 114,629,680 (GRCm39) |
C36G |
probably benign |
Het |
Igll1 |
T |
C |
16: 16,678,783 (GRCm39) |
T176A |
probably benign |
Het |
Ilkap |
T |
C |
1: 91,313,067 (GRCm39) |
T143A |
probably benign |
Het |
Kdm3b |
A |
T |
18: 34,926,168 (GRCm39) |
K103* |
probably null |
Het |
Mphosph9 |
A |
G |
5: 124,436,853 (GRCm39) |
I497T |
possibly damaging |
Het |
Mrgpra3 |
G |
A |
7: 47,239,908 (GRCm39) |
T6I |
possibly damaging |
Het |
Mrpl38 |
T |
C |
11: 116,023,384 (GRCm39) |
|
probably null |
Het |
Myo3a |
A |
T |
2: 22,434,457 (GRCm39) |
E813V |
possibly damaging |
Het |
Myo7b |
T |
C |
18: 32,095,405 (GRCm39) |
K1851R |
probably damaging |
Het |
Myo7b |
G |
T |
18: 32,092,519 (GRCm39) |
Q2093K |
possibly damaging |
Het |
P3h2 |
T |
A |
16: 25,803,749 (GRCm39) |
D339V |
probably benign |
Het |
Pcdhb6 |
C |
A |
18: 37,468,300 (GRCm39) |
P407Q |
possibly damaging |
Het |
Plch2 |
C |
A |
4: 155,093,483 (GRCm39) |
R153L |
probably damaging |
Het |
Plppr4 |
G |
A |
3: 117,153,957 (GRCm39) |
|
probably benign |
Het |
Ppp1r3a |
A |
G |
6: 14,717,776 (GRCm39) |
F1046S |
probably damaging |
Het |
Pramel41 |
T |
G |
5: 94,596,366 (GRCm39) |
W468G |
probably benign |
Het |
Prkacb |
A |
T |
3: 146,461,446 (GRCm39) |
L107M |
probably benign |
Het |
Rasl11b |
C |
A |
5: 74,357,994 (GRCm39) |
P88Q |
probably damaging |
Het |
Rcc2 |
A |
G |
4: 140,448,460 (GRCm39) |
E503G |
possibly damaging |
Het |
Rnf216 |
T |
A |
5: 143,071,758 (GRCm39) |
K407N |
probably damaging |
Het |
Rusf1 |
A |
G |
7: 127,875,706 (GRCm39) |
V243A |
probably benign |
Het |
Scrn3 |
G |
A |
2: 73,148,673 (GRCm39) |
M81I |
possibly damaging |
Het |
Scube2 |
T |
C |
7: 109,408,387 (GRCm39) |
T687A |
probably benign |
Het |
Serpinb10 |
T |
A |
1: 107,463,728 (GRCm39) |
F3L |
probably benign |
Het |
Sgcb |
C |
T |
5: 73,797,155 (GRCm39) |
V202I |
probably damaging |
Het |
Sgce |
A |
G |
6: 4,689,654 (GRCm39) |
V429A |
possibly damaging |
Het |
Sh3rf2 |
T |
C |
18: 42,286,229 (GRCm39) |
V574A |
probably benign |
Het |
Sncaip |
T |
C |
18: 53,002,016 (GRCm39) |
L179S |
probably damaging |
Het |
Sntg2 |
A |
T |
12: 30,362,571 (GRCm39) |
D58E |
probably damaging |
Het |
Taar3 |
T |
C |
10: 23,825,586 (GRCm39) |
I44T |
possibly damaging |
Het |
Tmem87b |
G |
A |
2: 128,673,391 (GRCm39) |
V227I |
probably benign |
Het |
Tnfsf9 |
T |
C |
17: 57,412,517 (GRCm39) |
L29P |
possibly damaging |
Het |
Tnip2 |
T |
C |
5: 34,654,215 (GRCm39) |
H391R |
probably benign |
Het |
Traf5 |
A |
G |
1: 191,729,768 (GRCm39) |
Y125H |
|
Het |
Ttc23 |
T |
G |
7: 67,316,961 (GRCm39) |
I77M |
probably damaging |
Het |
Ube2l3 |
T |
C |
16: 16,978,036 (GRCm39) |
N43S |
probably benign |
Het |
Vars2 |
A |
T |
17: 35,977,103 (GRCm39) |
C142* |
probably null |
Het |
Vmn2r15 |
A |
C |
5: 109,435,008 (GRCm39) |
D565E |
probably damaging |
Het |
Vmn2r56 |
C |
T |
7: 12,449,153 (GRCm39) |
|
probably null |
Het |
Vmn2r79 |
A |
T |
7: 86,651,408 (GRCm39) |
D269V |
possibly damaging |
Het |
Vmn2r85 |
A |
T |
10: 130,261,572 (GRCm39) |
M255K |
probably benign |
Het |
Wfdc6a |
T |
A |
2: 164,421,746 (GRCm39) |
*137C |
probably null |
Het |
Wipi2 |
T |
C |
5: 142,652,639 (GRCm39) |
V417A |
probably benign |
Het |
Xirp2 |
G |
T |
2: 67,340,116 (GRCm39) |
V786L |
possibly damaging |
Het |
Zdhhc13 |
G |
A |
7: 48,445,697 (GRCm39) |
G26S |
probably benign |
Het |
Zscan25 |
T |
A |
5: 145,227,422 (GRCm39) |
V362D |
probably damaging |
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 |
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 |
|
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'- CTGGAAGGAACACTGAAGCTAC -3'
(R):5'- ATGCAGTCTCCAAGCAGAGG -3'
Sequencing Primer
(F):5'- GGAACACTGAAGCTACATTGAAATTC -3'
(R):5'- ATGGTGATAGTGGACATAGCCAC -3'
|
Posted On |
2019-06-07 |