Incidental Mutation 'R3111:Ncln'
ID |
263781 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ncln
|
Ensembl Gene |
ENSMUSG00000020238 |
Gene Name |
nicalin |
Synonyms |
3100002P13Rik |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.935)
|
Stock # |
R3111 ()
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
81322083-81332226 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 81323519 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 51
(V51I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000115235
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020463]
[ENSMUST00000118498]
[ENSMUST00000118763]
[ENSMUST00000124437]
|
AlphaFold |
Q8VCM8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000020463
AA Change: V543I
PolyPhen 2
Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000020463 Gene: ENSMUSG00000020238 AA Change: V543I
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: V542I
PolyPhen 2
Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000112744 Gene: ENSMUSG00000020238 AA Change: V542I
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: ENSMUST00000118763
|
SMART Domains |
Protein: ENSMUSP00000113675 Gene: ENSMUSG00000034818
Domain | Start | End | E-Value | Type |
RRM
|
8 |
84 |
7.41e-18 |
SMART |
RRM
|
97 |
172 |
3.23e-18 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000124437
AA Change: V51I
PolyPhen 2
Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000115235 Gene: ENSMUSG00000020238 AA Change: V51I
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: ENSMUST00000151701
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153205
|
Meta Mutation Damage Score |
0.0698 |
Coding Region Coverage |
- 1x: 98.8%
- 3x: 98.4%
- 10x: 97.3%
- 20x: 95.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca6 |
T |
A |
11: 110,069,655 (GRCm39) |
K1554* |
probably null |
Het |
Car12 |
C |
T |
9: 66,661,008 (GRCm39) |
T124I |
probably damaging |
Het |
Ccdc180 |
T |
A |
4: 45,900,470 (GRCm39) |
I278K |
possibly damaging |
Het |
Disp1 |
A |
T |
1: 182,869,087 (GRCm39) |
M1111K |
probably damaging |
Het |
Fpr1 |
A |
T |
17: 18,096,897 (GRCm39) |
M364K |
probably benign |
Het |
Gad1-ps |
A |
G |
10: 99,280,383 (GRCm39) |
|
noncoding transcript |
Het |
Grn |
A |
G |
11: 102,324,069 (GRCm39) |
T53A |
probably benign |
Het |
Hmgxb3 |
T |
C |
18: 61,280,454 (GRCm39) |
N683S |
probably damaging |
Het |
Jarid2 |
T |
A |
13: 45,059,752 (GRCm39) |
N661K |
probably damaging |
Het |
Mfap3 |
T |
C |
11: 57,420,406 (GRCm39) |
V129A |
probably damaging |
Het |
Mip |
T |
A |
10: 128,061,875 (GRCm39) |
L42* |
probably null |
Het |
Myh4 |
T |
A |
11: 67,137,276 (GRCm39) |
L499Q |
possibly damaging |
Het |
Nmnat3 |
T |
A |
9: 98,281,533 (GRCm39) |
I45N |
probably damaging |
Het |
Or1e32 |
T |
C |
11: 73,705,012 (GRCm39) |
R299G |
probably benign |
Het |
Osbpl9 |
T |
C |
4: 108,940,290 (GRCm39) |
I232V |
probably benign |
Het |
Pcdha12 |
A |
T |
18: 37,155,243 (GRCm39) |
H654L |
probably damaging |
Het |
Pcmtd2 |
A |
T |
2: 181,496,922 (GRCm39) |
I300F |
probably damaging |
Het |
Pds5b |
T |
C |
5: 150,643,372 (GRCm39) |
S65P |
probably damaging |
Het |
Pgm1 |
C |
T |
4: 99,813,222 (GRCm39) |
T11I |
probably benign |
Het |
Phf24 |
G |
A |
4: 42,938,316 (GRCm39) |
V226I |
probably benign |
Het |
Pigo |
T |
C |
4: 43,021,083 (GRCm39) |
T612A |
probably benign |
Het |
Plekhh3 |
T |
C |
11: 101,054,973 (GRCm39) |
|
probably benign |
Het |
Ptprf |
T |
C |
4: 118,068,629 (GRCm39) |
D1713G |
probably damaging |
Het |
Rbp3 |
G |
T |
14: 33,676,069 (GRCm39) |
V6F |
probably benign |
Het |
Sac3d1 |
T |
C |
19: 6,168,387 (GRCm39) |
K77R |
probably benign |
Het |
Slc1a6 |
T |
A |
10: 78,624,915 (GRCm39) |
S107T |
probably damaging |
Het |
Syce1l |
A |
G |
8: 114,381,579 (GRCm39) |
Q164R |
probably benign |
Het |
Tgfbi |
T |
C |
13: 56,757,547 (GRCm39) |
Y30H |
probably damaging |
Het |
Tmem217 |
A |
T |
17: 29,745,532 (GRCm39) |
V66D |
probably damaging |
Het |
Tnn |
C |
A |
1: 159,934,625 (GRCm39) |
D1263Y |
probably damaging |
Het |
Ylpm1 |
T |
C |
12: 85,076,145 (GRCm39) |
F499L |
probably 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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AAACCCTCTGTGGTTCGTTC -3'
(R):5'- GCAAGTGATGAATGCTTACAGG -3'
Sequencing Primer
(F):5'- TGTGTGAATAGTACCTCCTGGGC -3'
(R):5'- CTTACAGGTGAGTGATGGGCCAG -3'
|
Posted On |
2015-02-05 |