Incidental Mutation 'IGL02290:Ndc1'
| ID |
290061 |
| 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: 0.947)
|
| Stock # |
IGL02290
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
107225244-107273543 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 107252192 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000132950
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139560
|
| SMART Domains |
Protein: ENSMUSP00000120365
Gene: ENSMUSG00000028614
| 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: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930486L24Rik |
G |
A |
13: 61,001,344 (GRCm39) |
P128S |
probably damaging |
Het |
| Abca9 |
A |
G |
11: 110,026,177 (GRCm39) |
V961A |
probably damaging |
Het |
| Atp2a1 |
A |
G |
7: 126,051,821 (GRCm39) |
|
probably benign |
Het |
| Col25a1 |
T |
A |
3: 130,313,460 (GRCm39) |
|
probably benign |
Het |
| Col27a1 |
A |
G |
4: 63,144,163 (GRCm39) |
D617G |
probably damaging |
Het |
| Cpz |
T |
C |
5: 35,668,486 (GRCm39) |
T375A |
probably benign |
Het |
| Faxc |
T |
A |
4: 21,993,390 (GRCm39) |
S345T |
possibly damaging |
Het |
| Ganc |
C |
T |
2: 120,278,904 (GRCm39) |
T707I |
possibly damaging |
Het |
| Hars2 |
T |
C |
18: 36,918,679 (GRCm39) |
V55A |
possibly damaging |
Het |
| Lama4 |
A |
T |
10: 38,893,360 (GRCm39) |
I156F |
probably benign |
Het |
| Mtrf1 |
G |
T |
14: 79,639,251 (GRCm39) |
E128* |
probably null |
Het |
| Ntrk1 |
A |
C |
3: 87,689,078 (GRCm39) |
N537K |
probably benign |
Het |
| Or1e17 |
A |
G |
11: 73,831,695 (GRCm39) |
I208V |
probably benign |
Het |
| Or4p23 |
T |
C |
2: 88,576,729 (GRCm39) |
T168A |
probably benign |
Het |
| Scn11a |
A |
G |
9: 119,603,508 (GRCm39) |
I1053T |
probably damaging |
Het |
| Slc27a4 |
T |
A |
2: 29,705,741 (GRCm39) |
L643Q |
probably damaging |
Het |
| Tsnaxip1 |
C |
A |
8: 106,560,119 (GRCm39) |
P24T |
probably benign |
Het |
| Vmn1r78 |
A |
G |
7: 11,887,082 (GRCm39) |
E231G |
probably damaging |
Het |
| Vmn2r124 |
T |
G |
17: 18,293,597 (GRCm39) |
H561Q |
probably benign |
Het |
| Zbtb12 |
G |
A |
17: 35,114,448 (GRCm39) |
A78T |
probably damaging |
Het |
| Zp3r |
C |
T |
1: 130,547,102 (GRCm39) |
V25I |
possibly damaging |
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 |
|
IGL01954:Ndc1
|
APN |
4 |
107,253,001 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2015-04-16 |
Incidental Mutation