Incidental Mutation 'IGL03285:Nscme3l'
| ID |
415691 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nscme3l
|
| Ensembl Gene |
ENSMUSG00000100937 |
| Gene Name |
NSE3 homolog, SMC5-SMC6 complex component like |
| Synonyms |
1700020D05Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.076)
|
| Stock # |
IGL03285
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
5552795-5553815 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 5553205 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 192
(L192P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140922
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070172]
[ENSMUST00000189704]
|
| AlphaFold |
Q99PB1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000070172
|
| SMART Domains |
Protein: ENSMUSP00000070915
Gene: ENSMUSG00000056185
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PX
|
24 |
165 |
1.4e-19 |
PFAM |
|
Pfam:Vps5
|
183 |
394 |
9.9e-20 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000189704
AA Change: L192P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000140922
Gene: ENSMUSG00000100937
AA Change: L192P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MAGE
|
82 |
253 |
2.2e-57 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ank2 |
C |
A |
3: 126,749,519 (GRCm39) |
E503D |
probably damaging |
Het |
| Atp7a |
A |
T |
X: 105,153,381 (GRCm39) |
E1094D |
probably benign |
Het |
| Carf |
A |
G |
1: 60,185,313 (GRCm39) |
T453A |
probably damaging |
Het |
| Catsperg1 |
T |
C |
7: 28,897,597 (GRCm39) |
N229S |
possibly damaging |
Het |
| Ctdspl2 |
T |
C |
2: 121,817,480 (GRCm39) |
Y176H |
probably damaging |
Het |
| Dnah7b |
A |
T |
1: 46,221,535 (GRCm39) |
N1213I |
probably benign |
Het |
| Fgfr3 |
G |
A |
5: 33,892,557 (GRCm39) |
R726H |
probably damaging |
Het |
| Garre1 |
T |
C |
7: 33,984,416 (GRCm39) |
H69R |
possibly damaging |
Het |
| Gm1527 |
A |
T |
3: 28,974,566 (GRCm39) |
I460F |
probably damaging |
Het |
| Gm382 |
T |
C |
X: 125,969,318 (GRCm39) |
I501T |
possibly damaging |
Het |
| Igfl3 |
T |
C |
7: 17,914,172 (GRCm39) |
|
probably benign |
Het |
| Igkv2-109 |
T |
C |
6: 68,279,902 (GRCm39) |
I41T |
probably damaging |
Het |
| Itga4 |
A |
C |
2: 79,109,510 (GRCm39) |
K236N |
possibly damaging |
Het |
| Kcnj1 |
A |
T |
9: 32,308,157 (GRCm39) |
T174S |
possibly damaging |
Het |
| Kif17 |
A |
G |
4: 137,996,301 (GRCm39) |
T93A |
probably damaging |
Het |
| Lamc1 |
G |
T |
1: 153,103,431 (GRCm39) |
N1378K |
possibly damaging |
Het |
| Ldlrad2 |
T |
C |
4: 137,300,955 (GRCm39) |
M28V |
probably benign |
Het |
| Lrrc37a |
C |
T |
11: 103,388,499 (GRCm39) |
E2309K |
unknown |
Het |
| Met |
T |
C |
6: 17,553,336 (GRCm39) |
S1041P |
probably damaging |
Het |
| Rimbp3 |
T |
C |
16: 17,031,096 (GRCm39) |
S1507P |
probably benign |
Het |
| Slc7a2 |
A |
G |
8: 41,368,030 (GRCm39) |
D598G |
possibly damaging |
Het |
| Tdo2 |
A |
G |
3: 81,866,096 (GRCm39) |
|
probably null |
Het |
| Ugt2b37 |
T |
C |
5: 87,388,734 (GRCm39) |
D493G |
probably damaging |
Het |
| Vps50 |
G |
A |
6: 3,555,011 (GRCm39) |
V395I |
possibly damaging |
Het |
|
| Other mutations in Nscme3l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02983:Nscme3l
|
APN |
19 |
5,553,209 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R4445:Nscme3l
|
UTSW |
19 |
5,553,022 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4804:Nscme3l
|
UTSW |
19 |
5,553,028 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5449:Nscme3l
|
UTSW |
19 |
5,553,292 (GRCm39) |
missense |
probably benign |
0.44 |
|
R5542:Nscme3l
|
UTSW |
19 |
5,553,463 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6435:Nscme3l
|
UTSW |
19 |
5,553,446 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6476:Nscme3l
|
UTSW |
19 |
5,553,253 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6764:Nscme3l
|
UTSW |
19 |
5,552,900 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7102:Nscme3l
|
UTSW |
19 |
5,553,623 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7232:Nscme3l
|
UTSW |
19 |
5,553,659 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7541:Nscme3l
|
UTSW |
19 |
5,553,439 (GRCm39) |
missense |
probably benign |
0.40 |
|
R7640:Nscme3l
|
UTSW |
19 |
5,553,035 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9459:Nscme3l
|
UTSW |
19 |
5,553,757 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation