Incidental Mutation 'R5630:Npdc1'
| ID |
442037 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Npdc1
|
| Ensembl Gene |
ENSMUSG00000015094 |
| Gene Name |
neural proliferation, differentiation and control 1 |
| Synonyms |
NPDC-1 |
| MMRRC Submission |
043281-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5630 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
25293062-25299506 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 25298957 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 284
(D284N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000071387
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055921]
[ENSMUST00000071442]
[ENSMUST00000133409]
[ENSMUST00000141567]
[ENSMUST00000154809]
|
| AlphaFold |
Q64322 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000055921
AA Change: D293N
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000049602
Gene: ENSMUSG00000015094
AA Change: D293N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NPDC1
|
1 |
341 |
9.1e-234 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000071442
AA Change: D284N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000071387
Gene: ENSMUSG00000015094
AA Change: D284N
| 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 |
possibly damaging
Transcript: ENSMUST00000133409
AA Change: D226N
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000117773
Gene: ENSMUSG00000015094
AA Change: D226N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NPDC1
|
1 |
274 |
3.4e-163 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138651
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136138
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144413
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141106
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156824
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141567
|
| SMART Domains |
Protein: ENSMUSP00000116275
Gene: ENSMUSG00000015094
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NPDC1
|
1 |
231 |
7.8e-141 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154809
|
| SMART Domains |
Protein: ENSMUSP00000123386
Gene: ENSMUSG00000015094
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NPDC1
|
1 |
142 |
1.8e-88 |
PFAM |
|
| Meta Mutation Damage Score |
0.5505 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap3s2 |
A |
T |
7: 79,559,647 (GRCm39) |
V94E |
probably damaging |
Het |
| Aven |
T |
A |
2: 112,344,890 (GRCm39) |
Y109* |
probably null |
Het |
| Cad |
T |
C |
5: 31,217,917 (GRCm39) |
S401P |
probably damaging |
Het |
| Ccdc122 |
A |
T |
14: 77,330,216 (GRCm39) |
I189F |
probably damaging |
Het |
| Cdkal1 |
A |
T |
13: 29,961,198 (GRCm39) |
|
probably null |
Het |
| Clock |
G |
A |
5: 76,378,185 (GRCm39) |
P572S |
probably benign |
Het |
| Cnih4 |
C |
G |
1: 180,989,748 (GRCm39) |
F120L |
probably benign |
Het |
| Cntnap5b |
A |
G |
1: 99,999,794 (GRCm39) |
D184G |
probably damaging |
Het |
| Cpa2 |
T |
A |
6: 30,550,731 (GRCm39) |
|
probably null |
Het |
| Cpne5 |
T |
C |
17: 29,445,190 (GRCm39) |
D38G |
probably damaging |
Het |
| Dst |
GGAATCGTGCACTCGAA |
GGAA |
1: 34,227,866 (GRCm39) |
|
probably null |
Het |
| E330034G19Rik |
A |
G |
14: 24,358,336 (GRCm39) |
|
probably benign |
Het |
| Flrt1 |
A |
T |
19: 7,073,830 (GRCm39) |
I239N |
probably damaging |
Het |
| Foxb1 |
T |
A |
9: 69,667,402 (GRCm39) |
I43F |
probably damaging |
Het |
| Kcnq3 |
A |
G |
15: 65,896,971 (GRCm39) |
W310R |
probably damaging |
Het |
| Klrb1a |
A |
T |
6: 128,595,573 (GRCm39) |
D60E |
probably benign |
Het |
| Lbr |
A |
G |
1: 181,644,529 (GRCm39) |
|
probably null |
Het |
| Lsm8 |
T |
A |
6: 18,851,672 (GRCm39) |
I41N |
probably damaging |
Het |
| Mroh7 |
T |
C |
4: 106,577,764 (GRCm39) |
M305V |
possibly damaging |
Het |
| Or5p4 |
T |
A |
7: 107,680,323 (GRCm39) |
F107L |
probably benign |
Het |
| Or8c10 |
T |
C |
9: 38,279,402 (GRCm39) |
Y177H |
probably damaging |
Het |
| Or8g20 |
T |
A |
9: 39,396,247 (GRCm39) |
M98L |
probably benign |
Het |
| Pcdhb5 |
A |
T |
18: 37,454,208 (GRCm39) |
D196V |
possibly damaging |
Het |
| Pcmt1 |
A |
G |
10: 7,524,857 (GRCm39) |
Y84H |
probably damaging |
Het |
| Pcnx2 |
A |
T |
8: 126,587,697 (GRCm39) |
I877K |
probably damaging |
Het |
| Pcsk5 |
A |
G |
19: 17,553,195 (GRCm39) |
Y662H |
probably benign |
Het |
| Prdx1 |
T |
A |
4: 116,556,414 (GRCm39) |
D187E |
probably benign |
Het |
| Ranbp2 |
T |
G |
10: 58,314,898 (GRCm39) |
Y1873D |
probably damaging |
Het |
| Rcor2 |
A |
T |
19: 7,248,416 (GRCm39) |
R144W |
probably damaging |
Het |
| Rptor |
T |
G |
11: 119,647,075 (GRCm39) |
I222S |
probably benign |
Het |
| Rrp8 |
C |
A |
7: 105,382,608 (GRCm39) |
R448L |
possibly damaging |
Het |
| Ryr2 |
A |
T |
13: 11,616,691 (GRCm39) |
I3909N |
probably damaging |
Het |
| Scn2a |
T |
G |
2: 65,556,709 (GRCm39) |
V1147G |
probably damaging |
Het |
| Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
| Smox |
C |
T |
2: 131,366,786 (GRCm39) |
Q582* |
probably null |
Het |
| Sqor |
T |
A |
2: 122,651,277 (GRCm39) |
L180H |
possibly damaging |
Het |
| Stox2 |
T |
C |
8: 47,644,925 (GRCm39) |
D845G |
probably damaging |
Het |
| Szt2 |
T |
C |
4: 118,250,102 (GRCm39) |
I469V |
possibly damaging |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Tox |
C |
CTGGAGT |
4: 6,688,835 (GRCm39) |
|
probably benign |
Het |
| Trgc2 |
A |
G |
13: 19,489,279 (GRCm39) |
F151S |
possibly damaging |
Het |
| Upf2 |
T |
C |
2: 6,032,112 (GRCm39) |
V141A |
probably damaging |
Het |
| Usp54 |
A |
G |
14: 20,615,125 (GRCm39) |
L772P |
probably damaging |
Het |
| Vmn2r83 |
A |
T |
10: 79,327,785 (GRCm39) |
T798S |
possibly damaging |
Het |
| Wee1 |
TCCCC |
TCCC |
7: 109,723,776 (GRCm39) |
|
probably null |
Het |
| Zfp143 |
C |
T |
7: 109,687,980 (GRCm39) |
T473I |
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 |
|
R1136:Npdc1
|
UTSW |
2 |
25,297,727 (GRCm39) |
missense |
probably benign |
0.09 |
|
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 |
|
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'- CTGAAGTGGCCGCTTTTCTC -3'
(R):5'- TCAAACAGTGGGTTGCGCAC -3'
Sequencing Primer
(F):5'- GTCCCTACCTGCTCGAAAC -3'
(R):5'- TGGGTTGCGCACCTCCATC -3'
|
| Posted On |
2016-11-08 |
Incidental Mutation