Incidental Mutation 'R5127:Ranbp1'
| ID |
394838 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ranbp1
|
| Ensembl Gene |
ENSMUSG00000005732 |
| Gene Name |
RAN binding protein 1 |
| Synonyms |
Htf9a |
| MMRRC Submission |
042715-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5127 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
18057843-18066558 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 18065151 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111309
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052325]
[ENSMUST00000052325]
[ENSMUST00000100099]
[ENSMUST00000115640]
[ENSMUST00000115645]
[ENSMUST00000128045]
[ENSMUST00000140206]
[ENSMUST00000231509]
|
| AlphaFold |
P34022 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000052325
|
| SMART Domains |
Protein: ENSMUSP00000055288
Gene: ENSMUSG00000005732
| Domain | Start | End | E-Value | Type |
|---|
|
RanBD
|
1 |
108 |
4.92e-46 |
SMART |
|
coiled coil region
|
123 |
153 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000052325
|
| SMART Domains |
Protein: ENSMUSP00000055288
Gene: ENSMUSG00000005732
| Domain | Start | End | E-Value | Type |
|---|
|
RanBD
|
1 |
108 |
4.92e-46 |
SMART |
|
coiled coil region
|
123 |
153 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000059696
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000100099
|
| SMART Domains |
Protein: ENSMUSP00000111303
Gene: ENSMUSG00000022721
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
35 |
44 |
N/A |
INTRINSIC |
|
RRM
|
64 |
132 |
1.37e-2 |
SMART |
|
coiled coil region
|
171 |
195 |
N/A |
INTRINSIC |
|
Pfam:tRNA_U5-meth_tr
|
380 |
579 |
1.2e-20 |
PFAM |
|
Pfam:PCMT
|
386 |
482 |
1.1e-8 |
PFAM |
|
Pfam:MTS
|
389 |
489 |
6.2e-9 |
PFAM |
|
Pfam:Methyltransf_4
|
397 |
497 |
4.2e-7 |
PFAM |
|
Pfam:Methyltransf_31
|
420 |
546 |
6.2e-15 |
PFAM |
|
Pfam:Methyltransf_18
|
422 |
523 |
9.3e-11 |
PFAM |
|
Pfam:Methyltransf_26
|
423 |
538 |
5.3e-12 |
PFAM |
|
Pfam:Methyltransf_25
|
426 |
511 |
3.5e-8 |
PFAM |
|
Pfam:Methyltransf_11
|
427 |
487 |
5.6e-6 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115640
|
| SMART Domains |
Protein: ENSMUSP00000111304
Gene: ENSMUSG00000022721
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
35 |
44 |
N/A |
INTRINSIC |
|
RRM
|
64 |
132 |
1.37e-2 |
SMART |
|
coiled coil region
|
171 |
195 |
N/A |
INTRINSIC |
|
Pfam:tRNA_U5-meth_tr
|
380 |
579 |
2.6e-20 |
PFAM |
|
Pfam:PCMT
|
386 |
482 |
3.4e-9 |
PFAM |
|
Pfam:MTS
|
392 |
489 |
1e-7 |
PFAM |
|
Pfam:Cons_hypoth95
|
405 |
542 |
2.7e-7 |
PFAM |
|
Pfam:Methyltransf_31
|
420 |
547 |
2.1e-15 |
PFAM |
|
Pfam:Methyltransf_18
|
422 |
526 |
2.9e-12 |
PFAM |
|
Pfam:Methyltransf_4
|
423 |
499 |
2.6e-7 |
PFAM |
|
Pfam:Methyltransf_25
|
426 |
511 |
1.3e-8 |
PFAM |
|
Pfam:Methyltransf_11
|
427 |
489 |
3.6e-8 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000115645
|
| SMART Domains |
Protein: ENSMUSP00000111309
Gene: ENSMUSG00000005732
| Domain | Start | End | E-Value | Type |
|---|
|
RanBD
|
27 |
158 |
3.33e-75 |
SMART |
|
low complexity region
|
183 |
202 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123073
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127239
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134035
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147273
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153292
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131211
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232144
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145112
|
| SMART Domains |
Protein: ENSMUSP00000117026
Gene: ENSMUSG00000022721
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PCMT
|
118 |
220 |
4.2e-7 |
PFAM |
|
Pfam:tRNA_U5-meth_tr
|
118 |
280 |
4e-16 |
PFAM |
|
Pfam:MTS
|
129 |
229 |
5.4e-6 |
PFAM |
|
Pfam:Cons_hypoth95
|
143 |
277 |
6.5e-5 |
PFAM |
|
Pfam:PrmA
|
146 |
234 |
2e-4 |
PFAM |
|
Pfam:Ubie_methyltran
|
148 |
223 |
1e-4 |
PFAM |
|
Pfam:Methyltransf_31
|
158 |
271 |
6.1e-14 |
PFAM |
|
Pfam:Methyltransf_18
|
160 |
263 |
8.3e-11 |
PFAM |
|
Pfam:Methyltransf_4
|
161 |
237 |
7.1e-5 |
PFAM |
|
Pfam:Methyltransf_26
|
161 |
274 |
2e-6 |
PFAM |
|
Pfam:Methyltransf_25
|
164 |
251 |
5.2e-7 |
PFAM |
|
Pfam:Methyltransf_11
|
165 |
227 |
9.4e-7 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128045
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140206
|
| SMART Domains |
Protein: ENSMUSP00000121216
Gene: ENSMUSG00000022721
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
35 |
44 |
N/A |
INTRINSIC |
|
RRM
|
64 |
132 |
1.37e-2 |
SMART |
|
coiled coil region
|
171 |
195 |
N/A |
INTRINSIC |
|
Pfam:tRNA_U5-meth_tr
|
383 |
481 |
3.7e-8 |
PFAM |
|
Pfam:PCMT
|
386 |
481 |
1.5e-6 |
PFAM |
|
Pfam:MTS
|
389 |
493 |
2.5e-7 |
PFAM |
|
Pfam:Methyltransf_31
|
420 |
491 |
1.5e-9 |
PFAM |
|
Pfam:Methyltransf_18
|
422 |
508 |
4.1e-8 |
PFAM |
|
Pfam:Methyltransf_26
|
423 |
523 |
3.1e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232293
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232342
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231509
|
| Meta Mutation Damage Score |
0.9501 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.2%
|
| Validation Efficiency |
93% (42/45) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that forms a complex with Ras-related nuclear protein (Ran) and metabolizes guanoside triphosphate (GTP). This complex participates in the regulation of the cell cycle by controlling transport of proteins and nucleic acids into the nucleus. There are multiple pseudogenes for this gene on chromosomes 9, 12, 17, and X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit postnatal growth retardation, decreased body weight, impaired spermatogenesis, and male infertility. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610008E11Rik |
T |
C |
10: 78,902,826 (GRCm39) |
K497E |
probably damaging |
Het |
| 4933413J09Rik |
A |
G |
14: 26,097,462 (GRCm39) |
|
noncoding transcript |
Het |
| Aox1 |
A |
T |
1: 58,069,185 (GRCm39) |
I4F |
probably benign |
Het |
| Arhgef5 |
A |
T |
6: 43,250,148 (GRCm39) |
N300Y |
probably damaging |
Het |
| B530045E10Rik |
A |
G |
10: 99,257,983 (GRCm39) |
|
noncoding transcript |
Het |
| Ccnb1 |
C |
G |
13: 100,918,283 (GRCm39) |
Q121H |
possibly damaging |
Het |
| Cdh20 |
A |
G |
1: 104,875,073 (GRCm39) |
E285G |
probably damaging |
Het |
| Cfap54 |
A |
T |
10: 92,722,249 (GRCm39) |
|
probably null |
Het |
| Col6a3 |
A |
G |
1: 90,696,067 (GRCm39) |
C2667R |
unknown |
Het |
| Cts8 |
C |
T |
13: 61,401,149 (GRCm39) |
V126M |
probably damaging |
Het |
| Dag1 |
A |
T |
9: 108,084,771 (GRCm39) |
I790N |
possibly damaging |
Het |
| Ddit4 |
A |
G |
10: 59,786,491 (GRCm39) |
I186T |
probably damaging |
Het |
| Dnajc11 |
T |
A |
4: 152,054,271 (GRCm39) |
|
probably benign |
Het |
| Farsa |
A |
G |
8: 85,595,593 (GRCm39) |
D495G |
probably benign |
Het |
| Gm1527 |
T |
A |
3: 28,957,567 (GRCm39) |
I157N |
probably damaging |
Het |
| Gm5773 |
T |
A |
3: 93,680,735 (GRCm39) |
W136R |
probably benign |
Het |
| Hpse |
C |
A |
5: 100,867,403 (GRCm39) |
A20S |
unknown |
Het |
| Igfn1 |
A |
G |
1: 135,887,634 (GRCm39) |
Y2477H |
probably damaging |
Het |
| Kcnh5 |
A |
G |
12: 74,944,858 (GRCm39) |
V797A |
probably benign |
Het |
| Kptn |
T |
A |
7: 15,859,710 (GRCm39) |
C311* |
probably null |
Het |
| Lpcat2 |
A |
T |
8: 93,635,819 (GRCm39) |
N407I |
possibly damaging |
Het |
| Lrp1 |
T |
A |
10: 127,375,503 (GRCm39) |
|
probably benign |
Het |
| Ovol2 |
C |
T |
2: 144,159,780 (GRCm39) |
C120Y |
probably damaging |
Het |
| Pcdhac2 |
G |
T |
18: 37,277,352 (GRCm39) |
E111* |
probably null |
Het |
| Pknox1 |
C |
T |
17: 31,809,713 (GRCm39) |
P106S |
probably benign |
Het |
| Plet1 |
C |
T |
9: 50,415,595 (GRCm39) |
T155I |
probably benign |
Het |
| Ppfia2 |
A |
G |
10: 106,671,621 (GRCm39) |
K444R |
probably damaging |
Het |
| Prrc2c |
A |
T |
1: 162,525,415 (GRCm39) |
I397N |
unknown |
Het |
| Raver2 |
T |
C |
4: 100,960,182 (GRCm39) |
C221R |
probably damaging |
Het |
| Reps1 |
A |
G |
10: 17,969,628 (GRCm39) |
T244A |
probably benign |
Het |
| Slc22a16 |
G |
A |
10: 40,449,953 (GRCm39) |
V130I |
probably benign |
Het |
| Stmnd1 |
G |
A |
13: 46,453,071 (GRCm39) |
S249N |
probably benign |
Het |
| Styx |
A |
G |
14: 45,610,961 (GRCm39) |
|
probably null |
Het |
| Sult1b1 |
T |
G |
5: 87,669,407 (GRCm39) |
N147T |
probably damaging |
Het |
| Tbc1d2 |
G |
A |
4: 46,633,639 (GRCm39) |
|
probably benign |
Het |
| Tm4sf1 |
T |
G |
3: 57,200,289 (GRCm39) |
I109L |
possibly damaging |
Het |
| Ufl1 |
T |
C |
4: 25,256,010 (GRCm39) |
E423G |
probably benign |
Het |
| Unc13c |
T |
C |
9: 73,840,654 (GRCm39) |
I66V |
probably benign |
Het |
| Wfdc10 |
C |
T |
2: 164,499,060 (GRCm39) |
Q57* |
probably null |
Het |
| Zeb1os1 |
T |
C |
18: 5,567,390 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp369 |
A |
T |
13: 65,426,847 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Ranbp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03165:Ranbp1
|
APN |
16 |
18,065,145 (GRCm39) |
unclassified |
probably benign |
|
|
R0189:Ranbp1
|
UTSW |
16 |
18,059,607 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0764:Ranbp1
|
UTSW |
16 |
18,058,022 (GRCm39) |
nonsense |
probably null |
|
|
R3276:Ranbp1
|
UTSW |
16 |
18,065,293 (GRCm39) |
unclassified |
probably benign |
|
|
R4381:Ranbp1
|
UTSW |
16 |
18,065,208 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4620:Ranbp1
|
UTSW |
16 |
18,057,968 (GRCm39) |
unclassified |
probably benign |
|
|
R5655:Ranbp1
|
UTSW |
16 |
18,059,669 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5965:Ranbp1
|
UTSW |
16 |
18,063,092 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7080:Ranbp1
|
UTSW |
16 |
18,063,097 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R7900:Ranbp1
|
UTSW |
16 |
18,063,161 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8356:Ranbp1
|
UTSW |
16 |
18,063,170 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8456:Ranbp1
|
UTSW |
16 |
18,063,170 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8745:Ranbp1
|
UTSW |
16 |
18,065,244 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8758:Ranbp1
|
UTSW |
16 |
18,059,659 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAATTCCTAGCTTGGCTGG -3'
(R):5'- GCCATTTGTGATTGATGATGCCC -3'
Sequencing Primer
(F):5'- GCTGGCTCCTCTAGAAATTGAAG -3'
(R):5'- ATGATGCCCATTGTGGACC -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation