Incidental Mutation 'IGL01954:Ndc1'
ID |
181371 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ndc1
|
Ensembl Gene |
ENSMUSG00000028614 |
Gene Name |
NDC1 transmembrane nucleoporin |
Synonyms |
sks, 2810475A17Rik, Tmem48 |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.943)
|
Stock # |
IGL01954
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
107225244-107273543 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 107253001 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 590
(I590N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000120365
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030357]
[ENSMUST00000125342]
[ENSMUST00000139560]
[ENSMUST00000149366]
|
AlphaFold |
Q8VCB1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000030357
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000125342
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000139560
AA Change: I590N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000120365 Gene: ENSMUSG00000028614 AA Change: I590N
Domain | Start | End | E-Value | Type |
Pfam:Ndc1_Nup
|
20 |
666 |
1.7e-137 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000149366
|
SMART Domains |
Protein: ENSMUSP00000137180 Gene: ENSMUSG00000028614
Domain | Start | End | E-Value | Type |
Pfam:Ndc1_Nup
|
19 |
511 |
3.7e-136 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mutations in this gene produce background sensitive growth rates and skeletal anomalies. Both females and males are sterile. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl4fm4 |
A |
T |
4: 144,396,741 (GRCm39) |
D330E |
probably damaging |
Het |
Acsm3 |
T |
C |
7: 119,374,306 (GRCm39) |
|
probably benign |
Het |
Ankrd26 |
T |
A |
6: 118,535,966 (GRCm39) |
Y156F |
possibly damaging |
Het |
Bcr |
G |
A |
10: 75,011,173 (GRCm39) |
|
probably null |
Het |
Cpn2 |
C |
T |
16: 30,079,138 (GRCm39) |
A188T |
probably benign |
Het |
Ctdsp1 |
T |
C |
1: 74,433,242 (GRCm39) |
|
probably benign |
Het |
Cts7 |
T |
A |
13: 61,500,637 (GRCm39) |
R303S |
probably benign |
Het |
Dock7 |
T |
C |
4: 98,971,388 (GRCm39) |
D59G |
probably damaging |
Het |
Garre1 |
A |
T |
7: 33,944,460 (GRCm39) |
W91R |
probably damaging |
Het |
Gpr149 |
T |
C |
3: 62,438,348 (GRCm39) |
N603S |
probably benign |
Het |
Gucy2g |
A |
G |
19: 55,187,123 (GRCm39) |
I1099T |
probably benign |
Het |
Gzf1 |
G |
A |
2: 148,525,981 (GRCm39) |
A151T |
probably benign |
Het |
Ighv1-80 |
A |
T |
12: 115,876,253 (GRCm39) |
V21D |
probably benign |
Het |
Klhl18 |
T |
C |
9: 110,257,934 (GRCm39) |
Y432C |
probably damaging |
Het |
Lama4 |
A |
G |
10: 38,963,295 (GRCm39) |
D1289G |
probably benign |
Het |
Mab21l4 |
T |
A |
1: 93,079,794 (GRCm39) |
D432V |
probably damaging |
Het |
Mcm7 |
T |
C |
5: 138,165,507 (GRCm39) |
T466A |
probably damaging |
Het |
Megf8 |
A |
G |
7: 25,048,439 (GRCm39) |
E1704G |
possibly damaging |
Het |
Mettl25 |
C |
T |
10: 105,659,068 (GRCm39) |
C405Y |
probably damaging |
Het |
Muc6 |
A |
C |
7: 141,218,497 (GRCm39) |
S2059A |
probably benign |
Het |
Npnt |
G |
T |
3: 132,615,724 (GRCm39) |
N137K |
probably damaging |
Het |
Numa1 |
C |
T |
7: 101,645,300 (GRCm39) |
R309* |
probably null |
Het |
Ogfod3 |
G |
A |
11: 121,093,851 (GRCm39) |
T53I |
probably benign |
Het |
Or11i1 |
A |
G |
3: 106,729,311 (GRCm39) |
I188T |
possibly damaging |
Het |
Or5v1 |
C |
A |
17: 37,809,540 (GRCm39) |
|
probably benign |
Het |
Pcdhb9 |
G |
T |
18: 37,534,794 (GRCm39) |
V263F |
probably damaging |
Het |
Pld4 |
T |
C |
12: 112,734,355 (GRCm39) |
|
probably null |
Het |
Ppp2r3c |
A |
G |
12: 55,339,353 (GRCm39) |
L170P |
probably damaging |
Het |
Prex2 |
T |
A |
1: 11,210,235 (GRCm39) |
D558E |
possibly damaging |
Het |
Rasal2 |
A |
G |
1: 157,005,269 (GRCm39) |
S227P |
possibly damaging |
Het |
Rasal2 |
A |
T |
1: 157,003,686 (GRCm39) |
D324E |
probably damaging |
Het |
Rcbtb1 |
A |
G |
14: 59,467,416 (GRCm39) |
Y418C |
probably damaging |
Het |
Rhag |
T |
C |
17: 41,139,341 (GRCm39) |
F92S |
possibly damaging |
Het |
Scel |
T |
C |
14: 103,840,678 (GRCm39) |
|
probably benign |
Het |
Serinc5 |
A |
G |
13: 92,819,441 (GRCm39) |
N125S |
probably damaging |
Het |
Sgpl1 |
A |
T |
10: 60,936,672 (GRCm39) |
M561K |
probably benign |
Het |
Sostdc1 |
T |
C |
12: 36,367,121 (GRCm39) |
V99A |
probably damaging |
Het |
Them6 |
A |
G |
15: 74,593,538 (GRCm39) |
Y132C |
probably damaging |
Het |
Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
Vmn2r27 |
A |
T |
6: 124,169,207 (GRCm39) |
F641Y |
probably damaging |
Het |
Vps13c |
A |
G |
9: 67,876,580 (GRCm39) |
Y3384C |
probably damaging |
Het |
Zbtb32 |
G |
T |
7: 30,289,353 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Ndc1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00927:Ndc1
|
APN |
4 |
107,241,977 (GRCm39) |
splice site |
probably benign |
|
IGL00929:Ndc1
|
APN |
4 |
107,246,694 (GRCm39) |
missense |
probably benign |
0.23 |
IGL01340:Ndc1
|
APN |
4 |
107,231,344 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01376:Ndc1
|
APN |
4 |
107,232,394 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02290:Ndc1
|
APN |
4 |
107,252,192 (GRCm39) |
splice site |
probably benign |
|
IGL03251:Ndc1
|
APN |
4 |
107,237,856 (GRCm39) |
missense |
possibly damaging |
0.50 |
R1168:Ndc1
|
UTSW |
4 |
107,253,009 (GRCm39) |
missense |
probably benign |
0.02 |
R1541:Ndc1
|
UTSW |
4 |
107,228,485 (GRCm39) |
nonsense |
probably null |
|
R1605:Ndc1
|
UTSW |
4 |
107,225,293 (GRCm39) |
missense |
probably damaging |
0.96 |
R1612:Ndc1
|
UTSW |
4 |
107,252,265 (GRCm39) |
splice site |
probably benign |
|
R1716:Ndc1
|
UTSW |
4 |
107,241,992 (GRCm39) |
missense |
probably damaging |
1.00 |
R3522:Ndc1
|
UTSW |
4 |
107,250,355 (GRCm39) |
missense |
probably damaging |
0.99 |
R4036:Ndc1
|
UTSW |
4 |
107,268,269 (GRCm39) |
missense |
probably benign |
0.22 |
R4698:Ndc1
|
UTSW |
4 |
107,268,334 (GRCm39) |
missense |
probably benign |
0.06 |
R4794:Ndc1
|
UTSW |
4 |
107,247,419 (GRCm39) |
missense |
probably benign |
0.03 |
R5053:Ndc1
|
UTSW |
4 |
107,231,415 (GRCm39) |
missense |
probably damaging |
1.00 |
R5097:Ndc1
|
UTSW |
4 |
107,231,358 (GRCm39) |
missense |
probably benign |
0.01 |
R5158:Ndc1
|
UTSW |
4 |
107,232,362 (GRCm39) |
missense |
probably damaging |
1.00 |
R5217:Ndc1
|
UTSW |
4 |
107,246,773 (GRCm39) |
missense |
probably benign |
|
R5579:Ndc1
|
UTSW |
4 |
107,237,901 (GRCm39) |
missense |
possibly damaging |
0.74 |
R5666:Ndc1
|
UTSW |
4 |
107,246,723 (GRCm39) |
missense |
possibly damaging |
0.52 |
R5855:Ndc1
|
UTSW |
4 |
107,240,904 (GRCm39) |
missense |
probably damaging |
1.00 |
R6180:Ndc1
|
UTSW |
4 |
107,268,395 (GRCm39) |
missense |
possibly damaging |
0.65 |
R6525:Ndc1
|
UTSW |
4 |
107,225,304 (GRCm39) |
missense |
probably benign |
0.01 |
R8065:Ndc1
|
UTSW |
4 |
107,247,595 (GRCm39) |
missense |
probably benign |
0.01 |
R8067:Ndc1
|
UTSW |
4 |
107,247,595 (GRCm39) |
missense |
probably benign |
0.01 |
R8100:Ndc1
|
UTSW |
4 |
107,240,802 (GRCm39) |
missense |
possibly damaging |
0.94 |
R8428:Ndc1
|
UTSW |
4 |
107,226,017 (GRCm39) |
missense |
probably benign |
0.00 |
R8952:Ndc1
|
UTSW |
4 |
107,247,623 (GRCm39) |
missense |
probably benign |
0.00 |
R8953:Ndc1
|
UTSW |
4 |
107,238,890 (GRCm39) |
missense |
probably damaging |
1.00 |
R9489:Ndc1
|
UTSW |
4 |
107,247,863 (GRCm39) |
critical splice donor site |
probably null |
|
R9606:Ndc1
|
UTSW |
4 |
107,246,686 (GRCm39) |
missense |
probably damaging |
0.97 |
Z1176:Ndc1
|
UTSW |
4 |
107,243,799 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Posted On |
2014-05-07 |