Incidental Mutation 'IGL03219:Ranbp6'
| ID |
413574 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ranbp6
|
| Ensembl Gene |
ENSMUSG00000074909 |
| Gene Name |
RAN binding protein 6 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.295)
|
| Stock # |
IGL03219
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
29785800-29790374 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 29787680 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 891
(W891R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000100503
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099525]
[ENSMUST00000177155]
|
| AlphaFold |
Q8BIV3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099525
AA Change: W891R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000100503
Gene: ENSMUSG00000074909
AA Change: W891R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
70 |
78 |
N/A |
INTRINSIC |
|
Pfam:HEAT_2
|
367 |
475 |
2.4e-12 |
PFAM |
|
Pfam:HEAT_EZ
|
380 |
434 |
1.1e-9 |
PFAM |
|
Pfam:HEAT
|
409 |
438 |
8.3e-7 |
PFAM |
|
Pfam:HEAT
|
916 |
944 |
1.1e-6 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000175726
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177155
|
| SMART Domains |
Protein: ENSMUSP00000135473
Gene: ENSMUSG00000046138
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
66 |
N/A |
INTRINSIC |
|
BROMO
|
75 |
198 |
1.22e-3 |
SMART |
|
low complexity region
|
205 |
219 |
N/A |
INTRINSIC |
|
low complexity region
|
280 |
298 |
N/A |
INTRINSIC |
|
low complexity region
|
428 |
441 |
N/A |
INTRINSIC |
|
coiled coil region
|
606 |
638 |
N/A |
INTRINSIC |
|
low complexity region
|
655 |
689 |
N/A |
INTRINSIC |
|
coiled coil region
|
697 |
729 |
N/A |
INTRINSIC |
|
low complexity region
|
1079 |
1093 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
1097 |
1226 |
1.32e-7 |
PROSPERO |
|
low complexity region
|
1228 |
1237 |
N/A |
INTRINSIC |
|
low complexity region
|
1319 |
1348 |
N/A |
INTRINSIC |
|
low complexity region
|
1401 |
1416 |
N/A |
INTRINSIC |
|
low complexity region
|
1535 |
1557 |
N/A |
INTRINSIC |
|
low complexity region
|
1580 |
1596 |
N/A |
INTRINSIC |
|
low complexity region
|
1665 |
1678 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
1699 |
1843 |
1.32e-7 |
PROSPERO |
|
low complexity region
|
1920 |
1926 |
N/A |
INTRINSIC |
|
low complexity region
|
1946 |
1960 |
N/A |
INTRINSIC |
|
low complexity region
|
1986 |
2004 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Clasp2 |
T |
C |
9: 113,677,545 (GRCm39) |
|
probably benign |
Het |
| Ctss |
C |
T |
3: 95,450,411 (GRCm39) |
R121W |
possibly damaging |
Het |
| Cyp2c67 |
A |
T |
19: 39,631,738 (GRCm39) |
M153K |
possibly damaging |
Het |
| Cyp2d34 |
T |
C |
15: 82,502,740 (GRCm39) |
H162R |
probably benign |
Het |
| Dynlrb2 |
A |
T |
8: 117,241,635 (GRCm39) |
I60F |
probably benign |
Het |
| E4f1 |
C |
T |
17: 24,664,419 (GRCm39) |
|
probably null |
Het |
| Fzd6 |
T |
A |
15: 38,894,971 (GRCm39) |
V379E |
probably damaging |
Het |
| Galnt13 |
T |
C |
2: 54,823,447 (GRCm39) |
V341A |
possibly damaging |
Het |
| Hip1 |
T |
C |
5: 135,485,904 (GRCm39) |
S100G |
probably benign |
Het |
| Ncapd3 |
T |
C |
9: 26,975,169 (GRCm39) |
|
probably benign |
Het |
| Obox3 |
G |
A |
7: 15,359,803 (GRCm39) |
L289F |
probably damaging |
Het |
| Or52s6 |
C |
T |
7: 103,091,745 (GRCm39) |
G195E |
possibly damaging |
Het |
| Or8b50 |
G |
T |
9: 38,518,247 (GRCm39) |
C162F |
probably benign |
Het |
| Pkhd1l1 |
G |
A |
15: 44,460,291 (GRCm39) |
E4167K |
possibly damaging |
Het |
| Pphln1 |
T |
C |
15: 93,363,136 (GRCm39) |
|
probably benign |
Het |
| Rgs22 |
A |
T |
15: 36,107,194 (GRCm39) |
L64Q |
probably damaging |
Het |
| Ripor2 |
A |
T |
13: 24,907,702 (GRCm39) |
Y991F |
probably damaging |
Het |
| Senp2 |
T |
A |
16: 21,833,014 (GRCm39) |
|
probably benign |
Het |
| Slc44a3 |
G |
A |
3: 121,257,169 (GRCm39) |
T508I |
probably damaging |
Het |
| Tdrd6 |
T |
C |
17: 43,938,855 (GRCm39) |
D731G |
probably benign |
Het |
| Thnsl1 |
T |
A |
2: 21,217,217 (GRCm39) |
C324S |
probably benign |
Het |
| Tnfrsf11b |
A |
T |
15: 54,117,574 (GRCm39) |
L227* |
probably null |
Het |
| Tulp4 |
T |
C |
17: 6,189,285 (GRCm39) |
C36R |
probably damaging |
Het |
|
| Other mutations in Ranbp6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02020:Ranbp6
|
APN |
19 |
29,787,176 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02665:Ranbp6
|
APN |
19 |
29,790,301 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
IGL02943:Ranbp6
|
APN |
19 |
29,789,524 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL03018:Ranbp6
|
APN |
19 |
29,788,789 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0137:Ranbp6
|
UTSW |
19 |
29,787,097 (GRCm39) |
missense |
probably benign |
0.16 |
|
R0412:Ranbp6
|
UTSW |
19 |
29,789,483 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1171:Ranbp6
|
UTSW |
19 |
29,789,679 (GRCm39) |
missense |
probably benign |
0.37 |
|
R1521:Ranbp6
|
UTSW |
19 |
29,788,846 (GRCm39) |
missense |
probably benign |
|
|
R1967:Ranbp6
|
UTSW |
19 |
29,789,900 (GRCm39) |
nonsense |
probably null |
|
|
R2257:Ranbp6
|
UTSW |
19 |
29,788,949 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R4490:Ranbp6
|
UTSW |
19 |
29,787,733 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4624:Ranbp6
|
UTSW |
19 |
29,788,263 (GRCm39) |
nonsense |
probably null |
|
|
R4625:Ranbp6
|
UTSW |
19 |
29,788,263 (GRCm39) |
nonsense |
probably null |
|
|
R4626:Ranbp6
|
UTSW |
19 |
29,788,263 (GRCm39) |
nonsense |
probably null |
|
|
R4649:Ranbp6
|
UTSW |
19 |
29,787,721 (GRCm39) |
missense |
probably benign |
0.23 |
|
R4709:Ranbp6
|
UTSW |
19 |
29,788,984 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4777:Ranbp6
|
UTSW |
19 |
29,789,037 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4895:Ranbp6
|
UTSW |
19 |
29,787,175 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5362:Ranbp6
|
UTSW |
19 |
29,789,128 (GRCm39) |
missense |
probably benign |
0.30 |
|
R5379:Ranbp6
|
UTSW |
19 |
29,789,083 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5617:Ranbp6
|
UTSW |
19 |
29,789,863 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6264:Ranbp6
|
UTSW |
19 |
29,790,026 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7091:Ranbp6
|
UTSW |
19 |
29,790,116 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7234:Ranbp6
|
UTSW |
19 |
29,789,462 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R7664:Ranbp6
|
UTSW |
19 |
29,789,476 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7904:Ranbp6
|
UTSW |
19 |
29,789,813 (GRCm39) |
missense |
probably benign |
|
|
R7915:Ranbp6
|
UTSW |
19 |
29,790,073 (GRCm39) |
missense |
probably benign |
|
|
R8023:Ranbp6
|
UTSW |
19 |
29,789,222 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8366:Ranbp6
|
UTSW |
19 |
29,789,299 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9037:Ranbp6
|
UTSW |
19 |
29,790,317 (GRCm39) |
missense |
probably benign |
|
|
R9269:Ranbp6
|
UTSW |
19 |
29,787,388 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9461:Ranbp6
|
UTSW |
19 |
29,787,163 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
X0024:Ranbp6
|
UTSW |
19 |
29,789,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation