Incidental Mutation 'R8065:Ndc1'
| ID |
619939 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ndc1
|
| Ensembl Gene |
ENSMUSG00000028614 |
| Gene Name |
NDC1 transmembrane nucleoporin |
| Synonyms |
sks, Tmem48, 2810475A17Rik |
| MMRRC Submission |
067501-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.947)
|
| Stock # |
R8065 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
107367784-107416346 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 107390398 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 468
(S468T)
|
| 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 benign
Transcript: ENSMUST00000139560
AA Change: S468T
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000120365
Gene: ENSMUSG00000028614
AA Change: S468T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ndc1_Nup
|
20 |
666 |
1.7e-137 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149366
AA Change: S468T
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000137180
Gene: ENSMUSG00000028614
AA Change: S468T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ndc1_Nup
|
19 |
511 |
3.7e-136 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (47/47) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cap2 |
T |
C |
13: 46,637,861 (GRCm38) |
V280A |
probably damaging |
Het |
| Cbx7 |
A |
T |
15: 79,933,898 (GRCm38) |
V1D |
unknown |
Het |
| Chodl |
A |
T |
16: 78,946,713 (GRCm38) |
L229F |
probably damaging |
Het |
| Depdc5 |
C |
A |
5: 32,895,908 (GRCm38) |
N197K |
possibly damaging |
Het |
| Diaph3 |
A |
T |
14: 87,037,495 (GRCm38) |
L175Q |
probably damaging |
Het |
| Dlat |
A |
T |
9: 50,657,849 (GRCm38) |
M218K |
possibly damaging |
Het |
| Dnaic1 |
T |
A |
4: 41,614,258 (GRCm38) |
D311E |
probably damaging |
Het |
| Dpp10 |
A |
G |
1: 123,352,660 (GRCm38) |
S646P |
probably benign |
Het |
| Ebf1 |
G |
A |
11: 44,620,547 (GRCm38) |
V90M |
probably benign |
Het |
| Efhd1 |
C |
T |
1: 87,264,591 (GRCm38) |
P48S |
probably benign |
Het |
| Fbxl16 |
G |
A |
17: 25,817,983 (GRCm38) |
V313I |
probably damaging |
Het |
| Flrt2 |
A |
G |
12: 95,780,774 (GRCm38) |
T629A |
probably benign |
Het |
| Gpr87 |
T |
A |
3: 59,179,887 (GRCm38) |
I66F |
probably damaging |
Het |
| Hmmr |
G |
A |
11: 40,721,672 (GRCm38) |
S206F |
probably damaging |
Het |
| Hsd17b4 |
A |
T |
18: 50,170,752 (GRCm38) |
I431F |
possibly damaging |
Het |
| Iba57 |
T |
C |
11: 59,163,260 (GRCm38) |
|
probably benign |
Het |
| Ibtk |
A |
C |
9: 85,720,863 (GRCm38) |
S696R |
probably benign |
Het |
| Igkv11-125 |
C |
A |
6: 67,913,830 (GRCm38) |
T44N |
probably benign |
Het |
| Itih2 |
T |
A |
2: 10,123,483 (GRCm38) |
I136F |
probably damaging |
Het |
| Itpr3 |
T |
A |
17: 27,110,862 (GRCm38) |
D1543E |
probably benign |
Het |
| Ldlr |
T |
A |
9: 21,737,945 (GRCm38) |
C339S |
probably damaging |
Het |
| Myh2 |
G |
A |
11: 67,181,344 (GRCm38) |
E633K |
probably null |
Het |
| Myl10 |
G |
C |
5: 136,697,971 (GRCm38) |
V70L |
probably benign |
Het |
| Mylk |
A |
T |
16: 34,972,019 (GRCm38) |
E1570V |
probably benign |
Het |
| Myo15b |
G |
A |
11: 115,887,943 (GRCm38) |
|
probably null |
Het |
| N4bp2 |
T |
A |
5: 65,807,296 (GRCm38) |
L896H |
probably damaging |
Het |
| Naip2 |
A |
T |
13: 100,189,222 (GRCm38) |
S59R |
probably damaging |
Het |
| Ndst3 |
T |
C |
3: 123,601,445 (GRCm38) |
N512S |
probably damaging |
Het |
| Olfr1138 |
T |
A |
2: 87,737,803 (GRCm38) |
I174F |
probably damaging |
Het |
| Olfr65 |
A |
G |
7: 103,906,403 (GRCm38) |
|
probably benign |
Het |
| Plekhn1 |
T |
C |
4: 156,228,240 (GRCm38) |
I54V |
possibly damaging |
Het |
| Polr3c |
T |
C |
3: 96,715,652 (GRCm38) |
E350G |
probably null |
Het |
| Pskh1 |
T |
G |
8: 105,929,855 (GRCm38) |
S388A |
possibly damaging |
Het |
| Pum1 |
T |
C |
4: 130,751,525 (GRCm38) |
V486A |
possibly damaging |
Het |
| Rin2 |
T |
G |
2: 145,861,057 (GRCm38) |
S558A |
probably damaging |
Het |
| Ripk4 |
A |
T |
16: 97,763,537 (GRCm38) |
V58D |
probably damaging |
Het |
| Slc17a3 |
A |
G |
13: 23,858,087 (GRCm38) |
R491G |
unknown |
Het |
| Smyd3 |
A |
G |
1: 179,410,463 (GRCm38) |
M113T |
possibly damaging |
Het |
| Ssh2 |
A |
G |
11: 77,441,985 (GRCm38) |
R431G |
probably damaging |
Het |
| Timm22 |
G |
A |
11: 76,414,105 (GRCm38) |
D190N |
probably damaging |
Het |
| Ube2g1 |
G |
A |
11: 72,677,765 (GRCm38) |
G103D |
probably benign |
Het |
| Zbtb5 |
A |
T |
4: 44,994,972 (GRCm38) |
S137R |
probably benign |
Het |
| Zfp105 |
A |
G |
9: 122,925,129 (GRCm38) |
T8A |
probably benign |
Het |
| Zfp286 |
A |
T |
11: 62,753,519 (GRCm38) |
I192K |
unknown |
Het |
| Zfp942 |
T |
C |
17: 21,930,410 (GRCm38) |
Y38C |
probably damaging |
Het |
| Zfpm1 |
T |
C |
8: 122,335,584 (GRCm38) |
S461P |
probably benign |
Het |
|
| Other mutations in Ndc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00927:Ndc1
|
APN |
4 |
107,384,780 (GRCm38) |
splice site |
probably benign |
|
|
IGL00929:Ndc1
|
APN |
4 |
107,389,497 (GRCm38) |
missense |
probably benign |
0.23 |
|
IGL01340:Ndc1
|
APN |
4 |
107,374,147 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01376:Ndc1
|
APN |
4 |
107,375,197 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01954:Ndc1
|
APN |
4 |
107,395,804 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02290:Ndc1
|
APN |
4 |
107,394,995 (GRCm38) |
splice site |
probably benign |
|
|
IGL03251:Ndc1
|
APN |
4 |
107,380,659 (GRCm38) |
missense |
possibly damaging |
0.50 |
|
R1168:Ndc1
|
UTSW |
4 |
107,395,812 (GRCm38) |
missense |
probably benign |
0.02 |
|
R1541:Ndc1
|
UTSW |
4 |
107,371,288 (GRCm38) |
nonsense |
probably null |
|
|
R1605:Ndc1
|
UTSW |
4 |
107,368,096 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R1612:Ndc1
|
UTSW |
4 |
107,395,068 (GRCm38) |
splice site |
probably benign |
|
|
R1716:Ndc1
|
UTSW |
4 |
107,384,795 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3522:Ndc1
|
UTSW |
4 |
107,393,158 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4036:Ndc1
|
UTSW |
4 |
107,411,072 (GRCm38) |
missense |
probably benign |
0.22 |
|
R4698:Ndc1
|
UTSW |
4 |
107,411,137 (GRCm38) |
missense |
probably benign |
0.06 |
|
R4794:Ndc1
|
UTSW |
4 |
107,390,222 (GRCm38) |
missense |
probably benign |
0.03 |
|
R5053:Ndc1
|
UTSW |
4 |
107,374,218 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5097:Ndc1
|
UTSW |
4 |
107,374,161 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5158:Ndc1
|
UTSW |
4 |
107,375,165 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5217:Ndc1
|
UTSW |
4 |
107,389,576 (GRCm38) |
missense |
probably benign |
|
|
R5579:Ndc1
|
UTSW |
4 |
107,380,704 (GRCm38) |
missense |
possibly damaging |
0.74 |
|
R5666:Ndc1
|
UTSW |
4 |
107,389,526 (GRCm38) |
missense |
possibly damaging |
0.52 |
|
R5855:Ndc1
|
UTSW |
4 |
107,383,707 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6180:Ndc1
|
UTSW |
4 |
107,411,198 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R6525:Ndc1
|
UTSW |
4 |
107,368,107 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8067:Ndc1
|
UTSW |
4 |
107,390,398 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8100:Ndc1
|
UTSW |
4 |
107,383,605 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R8428:Ndc1
|
UTSW |
4 |
107,368,820 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8952:Ndc1
|
UTSW |
4 |
107,390,426 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8953:Ndc1
|
UTSW |
4 |
107,381,693 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9489:Ndc1
|
UTSW |
4 |
107,390,666 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9606:Ndc1
|
UTSW |
4 |
107,389,489 (GRCm38) |
missense |
probably damaging |
0.97 |
|
Z1176:Ndc1
|
UTSW |
4 |
107,386,602 (GRCm38) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGCTTTTCAGACTCCAAAACC -3'
(R):5'- AGATCACACTGGGCTGTCTC -3'
Sequencing Primer
(F):5'- ACCTAGTCAGACGCCTTCCG -3'
(R):5'- TGTCTTACCCTCAGCAGTAACAGAG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation