Incidental Mutation 'IGL01376:Ndc1'
| ID |
78718 |
| 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 # |
IGL01376
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
107225244-107273543 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 107232394 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 193
(L193P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137180
(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: L193P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000120365
Gene: ENSMUSG00000028614
AA Change: L193P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ndc1_Nup
|
20 |
666 |
1.7e-137 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000149366
AA Change: L193P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000137180
Gene: ENSMUSG00000028614
AA Change: L193P
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930568D16Rik |
A |
T |
2: 35,245,640 (GRCm39) |
I61K |
probably benign |
Het |
| Acot12 |
A |
G |
13: 91,932,790 (GRCm39) |
Y521C |
probably damaging |
Het |
| Anxa7 |
T |
C |
14: 20,510,524 (GRCm39) |
N313D |
probably benign |
Het |
| Cdk14 |
T |
C |
5: 5,060,839 (GRCm39) |
I327M |
probably damaging |
Het |
| Clca3b |
T |
C |
3: 144,531,812 (GRCm39) |
N664S |
possibly damaging |
Het |
| Cpb1 |
A |
C |
3: 20,324,488 (GRCm39) |
L62R |
probably benign |
Het |
| Cracdl |
A |
G |
1: 37,667,425 (GRCm39) |
L207P |
probably damaging |
Het |
| Eef2 |
G |
A |
10: 81,013,883 (GRCm39) |
|
probably benign |
Het |
| Enox1 |
T |
C |
14: 77,489,283 (GRCm39) |
|
probably benign |
Het |
| Esco1 |
A |
T |
18: 10,594,892 (GRCm39) |
C131* |
probably null |
Het |
| Etv1 |
A |
T |
12: 38,907,039 (GRCm39) |
D347V |
probably damaging |
Het |
| Fat1 |
A |
G |
8: 45,479,878 (GRCm39) |
I2975V |
probably benign |
Het |
| Ghsr |
A |
G |
3: 27,425,977 (GRCm39) |
E11G |
probably benign |
Het |
| Gins4 |
T |
C |
8: 23,717,343 (GRCm39) |
D166G |
probably benign |
Het |
| Iglv2 |
G |
T |
16: 19,079,315 (GRCm39) |
H62N |
possibly damaging |
Het |
| Irf2bp1 |
T |
C |
7: 18,739,952 (GRCm39) |
S531P |
possibly damaging |
Het |
| Lrig3 |
T |
A |
10: 125,830,335 (GRCm39) |
F144L |
probably benign |
Het |
| Magi1 |
C |
T |
6: 94,260,074 (GRCm39) |
R77Q |
possibly damaging |
Het |
| Mlkl |
A |
G |
8: 112,046,379 (GRCm39) |
L298P |
probably damaging |
Het |
| Npas3 |
A |
T |
12: 54,091,369 (GRCm39) |
T308S |
probably benign |
Het |
| Nt5dc3 |
A |
T |
10: 86,670,028 (GRCm39) |
Q541L |
probably benign |
Het |
| Or10ag53 |
T |
C |
2: 87,083,217 (GRCm39) |
V312A |
possibly damaging |
Het |
| Or8k37 |
A |
C |
2: 86,469,953 (GRCm39) |
V33G |
probably benign |
Het |
| Parp10 |
G |
T |
15: 76,125,877 (GRCm39) |
T437K |
probably benign |
Het |
| Phf3 |
A |
G |
1: 30,869,566 (GRCm39) |
V494A |
possibly damaging |
Het |
| Prpf8 |
C |
A |
11: 75,385,121 (GRCm39) |
A794D |
possibly damaging |
Het |
| Sars2 |
T |
A |
7: 28,449,308 (GRCm39) |
Y307N |
probably damaging |
Het |
| Serping1 |
A |
T |
2: 84,600,529 (GRCm39) |
V271E |
probably damaging |
Het |
| Sgpl1 |
G |
A |
10: 60,949,849 (GRCm39) |
P117S |
probably damaging |
Het |
| Slc38a1 |
A |
C |
15: 96,483,437 (GRCm39) |
L297R |
probably damaging |
Het |
| Strbp |
A |
G |
2: 37,535,663 (GRCm39) |
M15T |
probably damaging |
Het |
| Tdp2 |
A |
G |
13: 25,020,932 (GRCm39) |
|
probably null |
Het |
| Tex10 |
T |
C |
4: 48,456,740 (GRCm39) |
Y657C |
possibly damaging |
Het |
| Xrcc4 |
A |
T |
13: 90,210,169 (GRCm39) |
S92T |
probably benign |
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 |
|
IGL01954:Ndc1
|
APN |
4 |
107,253,001 (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 |
2013-11-05 |
Incidental Mutation