Incidental Mutation 'R6359:Ncln'
| ID |
514195 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ncln
|
| Ensembl Gene |
ENSMUSG00000020238 |
| Gene Name |
nicalin |
| Synonyms |
3100002P13Rik |
| MMRRC Submission |
044509-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.922)
|
| Stock # |
R6359 (G1)
|
| Quality Score |
196.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
81322083-81332226 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 81326118 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Serine
at position 278
(G278S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112744
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020463]
[ENSMUST00000118498]
[ENSMUST00000124437]
|
| AlphaFold |
Q8VCM8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020463
AA Change: G278S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000020463
Gene: ENSMUSG00000020238
AA Change: G278S
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
12 |
34 |
N/A |
INTRINSIC |
|
low complexity region
|
160 |
172 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_M28
|
205 |
421 |
1.8e-13 |
PFAM |
|
Pfam:Nicastrin
|
217 |
411 |
2.1e-9 |
PFAM |
|
transmembrane domain
|
521 |
543 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000118498
AA Change: G278S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000112744
Gene: ENSMUSG00000020238
AA Change: G278S
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
12 |
34 |
N/A |
INTRINSIC |
|
low complexity region
|
160 |
172 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_M28
|
217 |
395 |
3.9e-12 |
PFAM |
|
Pfam:Nicastrin
|
217 |
411 |
1.5e-10 |
PFAM |
|
transmembrane domain
|
520 |
542 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124437
|
| SMART Domains |
Protein: ENSMUSP00000115235
Gene: ENSMUSG00000020238
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
29 |
51 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125521
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130400
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136721
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151680
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151701
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153205
|
| Meta Mutation Damage Score |
0.2937 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.3%
|
| Validation Efficiency |
100% (30/30) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asic5 |
A |
T |
3: 81,911,803 (GRCm39) |
D133V |
possibly damaging |
Het |
| Atp11b |
A |
G |
3: 35,832,210 (GRCm39) |
I22V |
probably benign |
Het |
| Ccdc18 |
C |
T |
5: 108,283,391 (GRCm39) |
T34I |
probably damaging |
Het |
| Ces2a |
A |
G |
8: 105,462,710 (GRCm39) |
I100V |
probably benign |
Het |
| Ddi2 |
T |
A |
4: 141,411,899 (GRCm39) |
T338S |
probably damaging |
Het |
| Dync1li1 |
A |
G |
9: 114,542,638 (GRCm39) |
I267V |
probably benign |
Het |
| Eif1ad14 |
G |
A |
12: 87,886,275 (GRCm39) |
T118M |
probably benign |
Het |
| Fbxo10 |
A |
T |
4: 45,041,796 (GRCm39) |
V637E |
possibly damaging |
Het |
| Gak |
T |
C |
5: 108,719,766 (GRCm39) |
E458G |
probably damaging |
Het |
| Glp1r |
G |
T |
17: 31,148,946 (GRCm39) |
V287F |
probably damaging |
Het |
| Gsdmc2 |
T |
C |
15: 63,696,866 (GRCm39) |
E435G |
probably damaging |
Het |
| Hsd11b1 |
T |
A |
1: 192,924,660 (GRCm39) |
|
probably benign |
Het |
| Igkv13-84 |
T |
G |
6: 68,916,592 (GRCm39) |
F3V |
probably benign |
Het |
| Igsf9b |
C |
A |
9: 27,220,895 (GRCm39) |
A87E |
probably benign |
Het |
| Ints1 |
G |
T |
5: 139,741,972 (GRCm39) |
L1796I |
probably benign |
Het |
| Ipo8 |
A |
G |
6: 148,678,748 (GRCm39) |
L950P |
probably benign |
Het |
| Lama5 |
T |
C |
2: 179,837,775 (GRCm39) |
D931G |
probably benign |
Het |
| Lamb1 |
A |
G |
12: 31,332,715 (GRCm39) |
E327G |
probably damaging |
Het |
| Lrp1b |
T |
C |
2: 41,185,608 (GRCm39) |
Y1369C |
probably damaging |
Het |
| Mapk3 |
A |
G |
7: 126,359,928 (GRCm39) |
T67A |
probably benign |
Het |
| Mrpl4 |
T |
A |
9: 20,919,030 (GRCm39) |
V225E |
probably damaging |
Het |
| Nlrp3 |
G |
A |
11: 59,439,392 (GRCm39) |
R323Q |
probably damaging |
Het |
| Nol8 |
A |
G |
13: 49,817,546 (GRCm39) |
D774G |
probably benign |
Het |
| Or11i1 |
A |
T |
3: 106,729,731 (GRCm39) |
I48N |
probably damaging |
Het |
| Or52p1 |
T |
C |
7: 104,267,510 (GRCm39) |
V208A |
probably damaging |
Het |
| Plekha8 |
G |
T |
6: 54,590,104 (GRCm39) |
C23F |
probably damaging |
Het |
| Prkag1 |
T |
C |
15: 98,712,433 (GRCm39) |
Y133C |
probably damaging |
Het |
| Spata31d1a |
A |
G |
13: 59,850,920 (GRCm39) |
S403P |
probably benign |
Het |
| Spata31d1c |
A |
T |
13: 65,183,406 (GRCm39) |
N316I |
possibly damaging |
Het |
| Tmem30c |
A |
T |
16: 57,096,513 (GRCm39) |
S203T |
probably benign |
Het |
| Ttn |
T |
G |
2: 76,569,300 (GRCm39) |
N18871H |
possibly damaging |
Het |
|
| Other mutations in Ncln |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02084:Ncln
|
APN |
10 |
81,324,430 (GRCm39) |
missense |
probably benign |
|
|
IGL03012:Ncln
|
APN |
10 |
81,325,799 (GRCm39) |
missense |
probably benign |
0.04 |
|
oxygen
|
UTSW |
10 |
81,328,987 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
trilobite
|
UTSW |
10 |
81,326,118 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0399:Ncln
|
UTSW |
10 |
81,324,131 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1203:Ncln
|
UTSW |
10 |
81,332,027 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R1436:Ncln
|
UTSW |
10 |
81,325,727 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1664:Ncln
|
UTSW |
10 |
81,323,555 (GRCm39) |
missense |
probably benign |
0.19 |
|
R2356:Ncln
|
UTSW |
10 |
81,328,756 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2926:Ncln
|
UTSW |
10 |
81,324,272 (GRCm39) |
missense |
probably benign |
0.09 |
|
R3110:Ncln
|
UTSW |
10 |
81,323,519 (GRCm39) |
missense |
probably benign |
0.07 |
|
R3111:Ncln
|
UTSW |
10 |
81,323,519 (GRCm39) |
missense |
probably benign |
0.07 |
|
R3112:Ncln
|
UTSW |
10 |
81,323,519 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4661:Ncln
|
UTSW |
10 |
81,328,902 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5910:Ncln
|
UTSW |
10 |
81,331,912 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6809:Ncln
|
UTSW |
10 |
81,323,512 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7141:Ncln
|
UTSW |
10 |
81,323,683 (GRCm39) |
nonsense |
probably null |
|
|
R7145:Ncln
|
UTSW |
10 |
81,324,086 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7966:Ncln
|
UTSW |
10 |
81,326,103 (GRCm39) |
nonsense |
probably null |
|
|
R8110:Ncln
|
UTSW |
10 |
81,328,987 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8355:Ncln
|
UTSW |
10 |
81,323,703 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8911:Ncln
|
UTSW |
10 |
81,323,519 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9211:Ncln
|
UTSW |
10 |
81,323,527 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGGCTACGTTGTCCTGCAG -3'
(R):5'- TTCTGTGTCAGCAGAGTCCTCC -3'
Sequencing Primer
(F):5'- TACGTTGTCCTGCAGGAGGC -3'
(R):5'- GGACACATGTCGCTGTCACAATTG -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation