Incidental Mutation 'R1136:Npdc1'
ID |
94960 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Npdc1
|
Ensembl Gene |
ENSMUSG00000015094 |
Gene Name |
neural proliferation, differentiation and control 1 |
Synonyms |
NPDC-1 |
MMRRC Submission |
039209-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1136 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
25293062-25299506 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 25297727 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Serine
at position 127
(A127S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000071387
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055921]
[ENSMUST00000071442]
[ENSMUST00000133409]
[ENSMUST00000141567]
[ENSMUST00000154809]
|
AlphaFold |
Q64322 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000055921
AA Change: A136S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000049602 Gene: ENSMUSG00000015094 AA Change: A136S
Domain | Start | End | E-Value | Type |
Pfam:NPDC1
|
1 |
341 |
9.1e-234 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000071442
AA Change: A127S
PolyPhen 2
Score 0.089 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000071387 Gene: ENSMUSG00000015094 AA Change: A127S
Domain | Start | End | E-Value | Type |
Pfam:NPDC1
|
1 |
332 |
7.2e-217 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124277
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128144
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131185
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132287
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000133409
AA Change: A59S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000117773 Gene: ENSMUSG00000015094 AA Change: A59S
Domain | Start | End | E-Value | Type |
Pfam:NPDC1
|
1 |
274 |
3.4e-163 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000141567
AA Change: A127S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000116275 Gene: ENSMUSG00000015094 AA Change: A127S
Domain | Start | End | E-Value | Type |
Pfam:NPDC1
|
1 |
231 |
7.8e-141 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000154809
AA Change: A133S
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000123386 Gene: ENSMUSG00000015094 AA Change: A133S
Domain | Start | End | E-Value | Type |
Pfam:NPDC1
|
1 |
142 |
1.8e-88 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156824
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144413
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141106
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138651
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136138
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.1%
- 10x: 95.7%
- 20x: 90.5%
|
Validation Efficiency |
100% (52/52) |
MGI Phenotype |
PHENOTYPE: Homozygous null mice display no obvious abnormalities in viability, fertility, behavior, or brain morphology. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy2 |
C |
T |
13: 68,878,436 (GRCm39) |
G401S |
probably damaging |
Het |
Akap8l |
C |
T |
17: 32,551,457 (GRCm39) |
R511H |
probably damaging |
Het |
Bmp2 |
T |
C |
2: 133,402,847 (GRCm39) |
F133L |
probably damaging |
Het |
C1qtnf3 |
A |
G |
15: 10,978,670 (GRCm39) |
E290G |
probably damaging |
Het |
Ccdc180 |
C |
A |
4: 45,914,589 (GRCm39) |
D701E |
probably benign |
Het |
Chmp7 |
C |
T |
14: 69,956,899 (GRCm39) |
M336I |
probably benign |
Het |
Csmd3 |
A |
T |
15: 47,539,213 (GRCm39) |
I1508N |
probably damaging |
Het |
Dgkh |
T |
C |
14: 78,862,329 (GRCm39) |
R80G |
probably damaging |
Het |
Dock1 |
T |
A |
7: 134,449,902 (GRCm39) |
V805D |
possibly damaging |
Het |
Eef2 |
C |
CN |
10: 81,014,603 (GRCm39) |
|
probably null |
Het |
Ercc6l2 |
T |
A |
13: 64,016,934 (GRCm39) |
V679D |
possibly damaging |
Het |
Esp6 |
T |
C |
17: 40,876,284 (GRCm39) |
Y111H |
probably benign |
Het |
Focad |
T |
C |
4: 88,244,417 (GRCm39) |
F799S |
unknown |
Het |
Foxred1 |
C |
A |
9: 35,116,333 (GRCm39) |
M438I |
probably benign |
Het |
Galnt11 |
T |
G |
5: 25,463,943 (GRCm39) |
V405G |
probably damaging |
Het |
Gm4847 |
A |
G |
1: 166,457,935 (GRCm39) |
Y473H |
probably damaging |
Het |
Gpbp1l1 |
C |
T |
4: 116,450,115 (GRCm39) |
T461M |
probably damaging |
Het |
Hnrnpu |
A |
T |
1: 178,158,790 (GRCm39) |
|
probably benign |
Het |
Kmt2d |
A |
T |
15: 98,755,646 (GRCm39) |
|
probably benign |
Het |
Matr3 |
A |
G |
18: 35,705,948 (GRCm39) |
H291R |
probably damaging |
Het |
Mfsd14b |
C |
T |
13: 65,243,506 (GRCm39) |
S46N |
probably benign |
Het |
Mtch1 |
C |
T |
17: 29,552,744 (GRCm39) |
|
probably null |
Het |
Muc6 |
G |
T |
7: 141,218,685 (GRCm39) |
T1996N |
possibly damaging |
Het |
Mylk |
T |
C |
16: 34,820,688 (GRCm39) |
I1880T |
probably damaging |
Het |
N4bp2 |
T |
C |
5: 65,965,815 (GRCm39) |
L1288P |
probably damaging |
Het |
Ncf2 |
A |
T |
1: 152,706,123 (GRCm39) |
H245L |
probably damaging |
Het |
Nmd3 |
T |
A |
3: 69,654,049 (GRCm39) |
|
probably benign |
Het |
Nudt3 |
C |
A |
17: 27,842,080 (GRCm39) |
R27L |
probably benign |
Het |
Nwd1 |
C |
T |
8: 73,424,397 (GRCm39) |
|
probably benign |
Het |
Pex7 |
T |
A |
10: 19,764,434 (GRCm39) |
I170F |
probably benign |
Het |
Phyhipl |
A |
G |
10: 70,404,902 (GRCm39) |
V57A |
probably damaging |
Het |
Pkhd1 |
G |
A |
1: 20,593,053 (GRCm39) |
P1687S |
possibly damaging |
Het |
Plekhj1 |
A |
T |
10: 80,633,654 (GRCm39) |
|
probably null |
Het |
Prss21 |
T |
A |
17: 24,091,968 (GRCm39) |
L312H |
probably damaging |
Het |
Samsn1 |
T |
C |
16: 75,670,408 (GRCm39) |
I232V |
probably null |
Het |
Sec63 |
A |
T |
10: 42,682,542 (GRCm39) |
D411V |
probably damaging |
Het |
Slc44a4 |
C |
T |
17: 35,146,998 (GRCm39) |
H343Y |
probably damaging |
Het |
Sucla2 |
C |
T |
14: 73,798,074 (GRCm39) |
|
probably benign |
Het |
Tedc2 |
T |
A |
17: 24,435,291 (GRCm39) |
E366V |
probably damaging |
Het |
Tedc2 |
C |
A |
17: 24,435,292 (GRCm39) |
E366* |
probably null |
Het |
Tent2 |
C |
T |
13: 93,312,205 (GRCm39) |
|
probably null |
Het |
Tmtc3 |
A |
G |
10: 100,307,905 (GRCm39) |
|
probably benign |
Het |
Trafd1 |
C |
T |
5: 121,511,387 (GRCm39) |
R477H |
possibly damaging |
Het |
Uhrf2 |
T |
A |
19: 30,033,626 (GRCm39) |
|
probably benign |
Het |
Vmn2r68 |
T |
A |
7: 84,871,549 (GRCm39) |
D578V |
possibly damaging |
Het |
Wdcp |
G |
A |
12: 4,901,655 (GRCm39) |
V504I |
possibly damaging |
Het |
Wdr93 |
T |
C |
7: 79,423,196 (GRCm39) |
Y487H |
probably damaging |
Het |
Zfp457 |
T |
C |
13: 67,441,846 (GRCm39) |
H147R |
probably damaging |
Het |
|
Other mutations in Npdc1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01654:Npdc1
|
APN |
2 |
25,297,649 (GRCm39) |
missense |
possibly damaging |
0.61 |
IGL02023:Npdc1
|
APN |
2 |
25,298,032 (GRCm39) |
unclassified |
probably benign |
|
IGL02894:Npdc1
|
APN |
2 |
25,298,007 (GRCm39) |
missense |
probably benign |
0.04 |
danke
|
UTSW |
2 |
25,296,257 (GRCm39) |
missense |
probably damaging |
1.00 |
R0650:Npdc1
|
UTSW |
2 |
25,298,021 (GRCm39) |
missense |
probably benign |
0.16 |
R4008:Npdc1
|
UTSW |
2 |
25,298,992 (GRCm39) |
nonsense |
probably null |
|
R4724:Npdc1
|
UTSW |
2 |
25,298,957 (GRCm39) |
missense |
probably damaging |
1.00 |
R4725:Npdc1
|
UTSW |
2 |
25,298,957 (GRCm39) |
missense |
probably damaging |
1.00 |
R4726:Npdc1
|
UTSW |
2 |
25,298,957 (GRCm39) |
missense |
probably damaging |
1.00 |
R4728:Npdc1
|
UTSW |
2 |
25,298,957 (GRCm39) |
missense |
probably damaging |
1.00 |
R4836:Npdc1
|
UTSW |
2 |
25,298,957 (GRCm39) |
missense |
probably damaging |
1.00 |
R4843:Npdc1
|
UTSW |
2 |
25,298,957 (GRCm39) |
missense |
probably damaging |
1.00 |
R4882:Npdc1
|
UTSW |
2 |
25,298,957 (GRCm39) |
missense |
probably damaging |
1.00 |
R5108:Npdc1
|
UTSW |
2 |
25,298,667 (GRCm39) |
missense |
probably damaging |
1.00 |
R5393:Npdc1
|
UTSW |
2 |
25,298,682 (GRCm39) |
missense |
probably damaging |
1.00 |
R5572:Npdc1
|
UTSW |
2 |
25,298,957 (GRCm39) |
missense |
probably damaging |
1.00 |
R5573:Npdc1
|
UTSW |
2 |
25,298,957 (GRCm39) |
missense |
probably damaging |
1.00 |
R5574:Npdc1
|
UTSW |
2 |
25,298,957 (GRCm39) |
missense |
probably damaging |
1.00 |
R5605:Npdc1
|
UTSW |
2 |
25,298,957 (GRCm39) |
missense |
probably damaging |
1.00 |
R5630:Npdc1
|
UTSW |
2 |
25,298,957 (GRCm39) |
missense |
probably damaging |
1.00 |
R5632:Npdc1
|
UTSW |
2 |
25,298,957 (GRCm39) |
missense |
probably damaging |
1.00 |
R5655:Npdc1
|
UTSW |
2 |
25,297,692 (GRCm39) |
missense |
possibly damaging |
0.71 |
R6823:Npdc1
|
UTSW |
2 |
25,299,121 (GRCm39) |
missense |
probably damaging |
1.00 |
R7151:Npdc1
|
UTSW |
2 |
25,299,120 (GRCm39) |
missense |
probably damaging |
0.98 |
R7400:Npdc1
|
UTSW |
2 |
25,296,257 (GRCm39) |
missense |
probably damaging |
1.00 |
R8777:Npdc1
|
UTSW |
2 |
25,298,129 (GRCm39) |
missense |
probably damaging |
0.98 |
R8777-TAIL:Npdc1
|
UTSW |
2 |
25,298,129 (GRCm39) |
missense |
probably damaging |
0.98 |
R9233:Npdc1
|
UTSW |
2 |
25,296,329 (GRCm39) |
missense |
probably damaging |
1.00 |
R9391:Npdc1
|
UTSW |
2 |
25,297,979 (GRCm39) |
missense |
possibly damaging |
0.72 |
R9570:Npdc1
|
UTSW |
2 |
25,298,312 (GRCm39) |
missense |
probably benign |
0.10 |
|
Predicted Primers |
PCR Primer
(F):5'- GCCTCTGTATATGTTGGCCCATCAC -3'
(R):5'- ACTGGAGTCTGAAGCTCACCTACAC -3'
Sequencing Primer
(F):5'- ATATGTTGGCCCATCACACTCC -3'
(R):5'- AGGGCCATCACATGTCTATACTTTG -3'
|
Posted On |
2014-01-05 |