Incidental Mutation 'R5097:Ndc1'
| ID |
388071 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ndc1
|
| Ensembl Gene |
ENSMUSG00000028614 |
| Gene Name |
NDC1 transmembrane nucleoporin |
| Synonyms |
sks, 2810475A17Rik, Tmem48 |
| MMRRC Submission |
042686-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.947)
|
| Stock # |
R5097 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
107225244-107273543 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 107231358 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 100
(S100T)
|
| 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 benign
Transcript: ENSMUST00000139560
AA Change: S100T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000120365
Gene: ENSMUSG00000028614
AA Change: S100T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ndc1_Nup
|
20 |
666 |
1.7e-137 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149366
AA Change: S100T
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000137180
Gene: ENSMUSG00000028614
AA Change: S100T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ndc1_Nup
|
19 |
511 |
3.7e-136 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.9%
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts3 |
C |
A |
5: 89,840,909 (GRCm39) |
V805F |
probably damaging |
Het |
| Adgrb3 |
G |
A |
1: 25,865,165 (GRCm39) |
T226M |
probably damaging |
Het |
| Ak5 |
A |
G |
3: 152,187,270 (GRCm39) |
S406P |
probably damaging |
Het |
| Akt3 |
C |
G |
1: 177,076,254 (GRCm39) |
V12L |
probably benign |
Het |
| Arhgef40 |
A |
C |
14: 52,227,146 (GRCm39) |
S397R |
probably damaging |
Het |
| Atp5f1c |
A |
G |
2: 10,068,323 (GRCm39) |
V144A |
probably benign |
Het |
| Ccser1 |
A |
G |
6: 61,289,144 (GRCm39) |
S436G |
probably benign |
Het |
| Clgn |
G |
T |
8: 84,137,152 (GRCm39) |
V290F |
possibly damaging |
Het |
| Dis3l |
T |
A |
9: 64,226,498 (GRCm39) |
D261V |
probably damaging |
Het |
| Dnah11 |
T |
A |
12: 117,981,435 (GRCm39) |
Y2577F |
probably damaging |
Het |
| Evi5l |
A |
G |
8: 4,243,317 (GRCm39) |
E371G |
probably damaging |
Het |
| Fat2 |
A |
G |
11: 55,201,530 (GRCm39) |
S515P |
probably damaging |
Het |
| Fsip2 |
A |
G |
2: 82,822,329 (GRCm39) |
I6021V |
probably benign |
Het |
| Ftdc1 |
A |
C |
16: 58,434,227 (GRCm39) |
N163K |
probably benign |
Het |
| Gstm5 |
A |
T |
3: 107,803,258 (GRCm39) |
|
probably benign |
Het |
| H2-Oa |
G |
A |
17: 34,312,809 (GRCm39) |
D29N |
probably damaging |
Het |
| Igkv4-80 |
A |
C |
6: 68,993,649 (GRCm39) |
S81A |
probably benign |
Het |
| Ireb2 |
A |
G |
9: 54,802,668 (GRCm39) |
I434M |
probably benign |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Micall1 |
A |
G |
15: 79,014,078 (GRCm39) |
T658A |
probably benign |
Het |
| Mitf |
C |
T |
6: 97,973,423 (GRCm39) |
A252V |
possibly damaging |
Het |
| Mpzl1 |
A |
G |
1: 165,433,285 (GRCm39) |
I122T |
probably damaging |
Het |
| Mtus2 |
G |
A |
5: 148,232,392 (GRCm39) |
V146I |
probably damaging |
Het |
| Myh11 |
C |
T |
16: 14,023,770 (GRCm39) |
|
probably null |
Het |
| Myrfl |
A |
G |
10: 116,653,609 (GRCm39) |
I486T |
probably damaging |
Het |
| N4bp2 |
T |
C |
5: 65,974,561 (GRCm39) |
V1477A |
probably damaging |
Het |
| Nek10 |
T |
A |
14: 14,857,851 (GRCm38) |
N433K |
probably benign |
Het |
| Noc4l |
C |
T |
5: 110,799,212 (GRCm39) |
S190N |
probably benign |
Het |
| Nprl2 |
A |
G |
9: 107,420,731 (GRCm39) |
E122G |
probably damaging |
Het |
| Or13a19 |
A |
G |
7: 139,903,008 (GRCm39) |
Y132C |
probably damaging |
Het |
| Or1e16 |
G |
C |
11: 73,286,119 (GRCm39) |
S243C |
probably damaging |
Het |
| Or6n2 |
C |
T |
1: 173,897,095 (GRCm39) |
T77I |
probably benign |
Het |
| Osbpl1a |
T |
C |
18: 12,896,594 (GRCm39) |
I324V |
probably damaging |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Peg3 |
C |
T |
7: 6,713,026 (GRCm39) |
R732H |
probably damaging |
Het |
| Rfc4 |
A |
G |
16: 22,933,046 (GRCm39) |
I297T |
possibly damaging |
Het |
| Rpl3l |
T |
A |
17: 24,952,435 (GRCm39) |
D218E |
probably damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Sesn2 |
C |
T |
4: 132,224,209 (GRCm39) |
V400I |
probably benign |
Het |
| Syt11 |
C |
T |
3: 88,655,231 (GRCm39) |
V51I |
probably benign |
Het |
| Tas2r115 |
A |
C |
6: 132,714,216 (GRCm39) |
L245R |
probably damaging |
Het |
| Tmem115 |
G |
A |
9: 107,412,059 (GRCm39) |
V128I |
probably benign |
Het |
| Trim47 |
A |
G |
11: 115,997,260 (GRCm39) |
V499A |
probably benign |
Het |
| Trpm7 |
A |
T |
2: 126,638,256 (GRCm39) |
|
probably null |
Het |
| Zfp143 |
A |
G |
7: 109,687,998 (GRCm39) |
D479G |
probably damaging |
Het |
| Zfp292 |
T |
C |
4: 34,839,878 (GRCm39) |
T91A |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTGTCAAGGCCCTATCTCG -3'
(R):5'- ACCTGGTAAATAACAGGCTTTCTAG -3'
Sequencing Primer
(F):5'- AAGGCCCTATCTCGATTCTCTAGG -3'
(R):5'- AAGAAGAAAACTTGACCATACCTCTC -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation