Incidental Mutation 'IGL03012:Ncln'
| ID |
407809 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ncln
|
| Ensembl Gene |
ENSMUSG00000020238 |
| Gene Name |
nicalin |
| Synonyms |
3100002P13Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.935)
|
| Stock # |
IGL03012
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
81322083-81332226 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 81325799 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 349
(F349L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020463
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020463]
[ENSMUST00000118498]
[ENSMUST00000124437]
|
| AlphaFold |
Q8VCM8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020463
AA Change: F349L
PolyPhen 2
Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000020463
Gene: ENSMUSG00000020238
AA Change: F349L
| 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 benign
Transcript: ENSMUST00000118498
AA Change: F349L
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000112744
Gene: ENSMUSG00000020238
AA Change: F349L
| 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
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaa1b |
A |
C |
9: 118,986,014 (GRCm39) |
S17A |
probably benign |
Het |
| Acp1 |
T |
G |
12: 30,945,948 (GRCm39) |
N135T |
probably benign |
Het |
| Adamts2 |
A |
G |
11: 50,667,096 (GRCm39) |
|
probably benign |
Het |
| Arfgef2 |
C |
T |
2: 166,710,808 (GRCm39) |
|
probably benign |
Het |
| Atp10b |
T |
A |
11: 43,085,482 (GRCm39) |
I287N |
probably damaging |
Het |
| Camta1 |
T |
A |
4: 151,537,756 (GRCm39) |
K141N |
probably damaging |
Het |
| Carmil1 |
T |
C |
13: 24,220,355 (GRCm39) |
D719G |
probably benign |
Het |
| Cntnap5c |
T |
A |
17: 58,666,229 (GRCm39) |
H1086Q |
probably benign |
Het |
| Dsg3 |
A |
G |
18: 20,670,300 (GRCm39) |
|
probably null |
Het |
| Emilin3 |
G |
A |
2: 160,750,649 (GRCm39) |
Q320* |
probably null |
Het |
| G6pd2 |
A |
G |
5: 61,966,816 (GRCm39) |
Y197C |
probably damaging |
Het |
| Il13ra1 |
G |
T |
X: 35,394,247 (GRCm39) |
|
probably benign |
Het |
| Ivl |
G |
A |
3: 92,479,733 (GRCm39) |
P111S |
probably benign |
Het |
| Kmt2a |
T |
C |
9: 44,722,263 (GRCm39) |
|
probably benign |
Het |
| Lztr1 |
T |
C |
16: 17,339,348 (GRCm39) |
S57P |
possibly damaging |
Het |
| Mtss1 |
T |
G |
15: 58,930,249 (GRCm39) |
D32A |
probably damaging |
Het |
| Mylk |
G |
A |
16: 34,773,151 (GRCm39) |
D1250N |
probably benign |
Het |
| Pgap1 |
A |
G |
1: 54,572,572 (GRCm39) |
|
probably benign |
Het |
| Rarres2 |
T |
C |
6: 48,547,239 (GRCm39) |
D107G |
probably benign |
Het |
| Ric3 |
T |
C |
7: 108,637,925 (GRCm39) |
D276G |
probably benign |
Het |
| Trim54 |
A |
G |
5: 31,294,489 (GRCm39) |
D339G |
probably benign |
Het |
| Trip11 |
G |
A |
12: 101,850,195 (GRCm39) |
H1005Y |
probably damaging |
Het |
| Tulp4 |
G |
T |
17: 6,263,654 (GRCm39) |
|
probably benign |
Het |
| Unc93a |
C |
T |
17: 13,328,495 (GRCm39) |
E453K |
probably benign |
Het |
| Vmn1r181 |
A |
T |
7: 23,684,027 (GRCm39) |
D164V |
probably damaging |
Het |
| Vmn1r78 |
T |
A |
7: 11,887,291 (GRCm39) |
S301T |
probably benign |
Het |
| Vmn1r85 |
T |
C |
7: 12,818,692 (GRCm39) |
N151D |
probably benign |
Het |
| Wnk2 |
T |
C |
13: 49,197,865 (GRCm39) |
K2008E |
probably damaging |
Het |
| Wrap73 |
A |
G |
4: 154,229,691 (GRCm39) |
|
probably benign |
Het |
| Zfp408 |
G |
A |
2: 91,478,153 (GRCm39) |
A41V |
probably benign |
Het |
| Zfp472 |
A |
G |
17: 33,196,545 (GRCm39) |
S207G |
probably benign |
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 |
|
|
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 |
|
|
R6359:Ncln
|
UTSW |
10 |
81,326,118 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation