Incidental Mutation 'R5855:Ndc1'
ID |
454856 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ndc1
|
Ensembl Gene |
ENSMUSG00000028614 |
Gene Name |
NDC1 transmembrane nucleoporin |
Synonyms |
sks, 2810475A17Rik, Tmem48 |
MMRRC Submission |
043229-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.947)
|
Stock # |
R5855 (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 C
at 107240904 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 294
(I294T)
|
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 damaging
Transcript: ENSMUST00000139560
AA Change: I294T
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000120365 Gene: ENSMUSG00000028614 AA Change: I294T
Domain | Start | End | E-Value | Type |
Pfam:Ndc1_Nup
|
20 |
666 |
1.7e-137 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000149366
AA Change: I294T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000137180 Gene: ENSMUSG00000028614 AA Change: I294T
Domain | Start | End | E-Value | Type |
Pfam:Ndc1_Nup
|
19 |
511 |
3.7e-136 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150800
|
Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.4%
- 10x: 96.8%
- 20x: 89.3%
|
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acadsb |
T |
G |
7: 131,026,328 (GRCm39) |
L57R |
probably damaging |
Het |
Bmpr1b |
G |
A |
3: 141,577,146 (GRCm39) |
T55M |
possibly damaging |
Het |
Cep350 |
G |
A |
1: 155,829,508 (GRCm39) |
T132I |
probably benign |
Het |
Cops4 |
A |
T |
5: 100,695,280 (GRCm39) |
M400L |
probably benign |
Het |
Cul1 |
G |
A |
6: 47,500,147 (GRCm39) |
D653N |
probably benign |
Het |
Cyp3a13 |
C |
G |
5: 137,917,318 (GRCm39) |
L36F |
probably damaging |
Het |
Dcaf10 |
T |
C |
4: 45,342,558 (GRCm39) |
F131L |
probably benign |
Het |
Dgkh |
T |
C |
14: 78,861,944 (GRCm39) |
|
probably null |
Het |
Igll1 |
C |
T |
16: 16,678,921 (GRCm39) |
V130M |
probably damaging |
Het |
Kif2c |
C |
T |
4: 117,039,739 (GRCm39) |
|
probably benign |
Het |
Klra7 |
T |
C |
6: 130,195,921 (GRCm39) |
D262G |
possibly damaging |
Het |
Lrrc27 |
T |
C |
7: 138,798,251 (GRCm39) |
|
probably benign |
Het |
Maf |
A |
G |
8: 116,432,531 (GRCm39) |
S358P |
probably benign |
Het |
Map1a |
A |
G |
2: 121,134,155 (GRCm39) |
D1419G |
possibly damaging |
Het |
Map3k1 |
G |
A |
13: 111,892,513 (GRCm39) |
A914V |
probably benign |
Het |
Naa25 |
T |
G |
5: 121,561,755 (GRCm39) |
L436R |
possibly damaging |
Het |
Nek1 |
A |
C |
8: 61,469,306 (GRCm39) |
D121A |
probably damaging |
Het |
Nfil3 |
C |
T |
13: 53,122,746 (GRCm39) |
G53R |
probably benign |
Het |
Or10h28 |
T |
C |
17: 33,488,310 (GRCm39) |
V204A |
possibly damaging |
Het |
Parp14 |
A |
T |
16: 35,661,297 (GRCm39) |
Y1550* |
probably null |
Het |
Patl1 |
A |
G |
19: 11,898,880 (GRCm39) |
I192V |
probably damaging |
Het |
Pax3 |
G |
A |
1: 78,098,288 (GRCm39) |
T367I |
probably damaging |
Het |
Pla2g4a |
C |
T |
1: 149,755,814 (GRCm39) |
V208M |
probably damaging |
Het |
Prdm10 |
A |
T |
9: 31,248,619 (GRCm39) |
K347M |
probably damaging |
Het |
Prkd1 |
A |
T |
12: 50,439,699 (GRCm39) |
M376K |
probably benign |
Het |
Prkg1 |
C |
T |
19: 30,872,094 (GRCm39) |
V219I |
possibly damaging |
Het |
Rictor |
G |
A |
15: 6,823,487 (GRCm39) |
E1555K |
probably benign |
Het |
Scn3a |
T |
C |
2: 65,295,074 (GRCm39) |
I1550V |
possibly damaging |
Het |
Skint8 |
C |
A |
4: 111,807,390 (GRCm39) |
L359M |
probably damaging |
Het |
Sox4 |
T |
C |
13: 29,136,979 (GRCm39) |
E9G |
probably damaging |
Het |
Spon1 |
T |
A |
7: 113,628,307 (GRCm39) |
D354E |
probably damaging |
Het |
Stat2 |
T |
A |
10: 128,119,363 (GRCm39) |
L450H |
probably damaging |
Het |
Tek |
T |
A |
4: 94,741,790 (GRCm39) |
M849K |
probably damaging |
Het |
Tmem63c |
G |
A |
12: 87,122,500 (GRCm39) |
D433N |
probably damaging |
Het |
Tnpo3 |
G |
A |
6: 29,589,032 (GRCm39) |
T106I |
probably damaging |
Het |
Tns1 |
G |
T |
1: 73,957,192 (GRCm39) |
A1674D |
possibly damaging |
Het |
Trim8 |
T |
C |
19: 46,503,849 (GRCm39) |
V467A |
possibly damaging |
Het |
Trmo |
T |
A |
4: 46,382,568 (GRCm39) |
H183L |
probably benign |
Het |
Trpm1 |
C |
A |
7: 63,918,710 (GRCm39) |
C683* |
probably null |
Het |
Vsig10 |
T |
G |
5: 117,476,335 (GRCm39) |
L263R |
probably damaging |
Het |
Zfp874a |
A |
T |
13: 67,590,812 (GRCm39) |
Y291N |
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 |
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 |
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 |
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'- AAAGCGCTCCAGTGAAGTACC -3'
(R):5'- GCTCTAAGTAAGCACGGTCAATAC -3'
Sequencing Primer
(F):5'- CTCCAGTGAAGTACCAGCAAGTAG -3'
(R):5'- CCACCCTGTTTAATTTGCAGAAAC -3'
|
Posted On |
2017-02-10 |