Incidental Mutation 'IGL02894:Npdc1'
| ID |
363330 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Npdc1
|
| Ensembl Gene |
ENSMUSG00000015094 |
| Gene Name |
neural proliferation, differentiation and control 1 |
| Synonyms |
NPDC-1 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02894
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
25293062-25299506 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 25298007 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 185
(H185Q)
|
| 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: H194Q
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000049602
Gene: ENSMUSG00000015094
AA Change: H194Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NPDC1
|
1 |
341 |
9.1e-234 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000071442
AA Change: H185Q
PolyPhen 2
Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000071387
Gene: ENSMUSG00000015094
AA Change: H185Q
| 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: H117Q
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000117773
Gene: ENSMUSG00000015094
AA Change: H117Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NPDC1
|
1 |
274 |
3.4e-163 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141567
AA Change: H184Q
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000116275
Gene: ENSMUSG00000015094
AA Change: H184Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NPDC1
|
1 |
231 |
7.8e-141 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156824
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138651
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144413
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141106
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136138
|
| 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 |
|
| Coding Region Coverage |
|
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A630023A22Rik |
T |
A |
14: 33,776,817 (GRCm39) |
|
probably benign |
Het |
| Aurka |
T |
A |
2: 172,208,868 (GRCm39) |
|
probably null |
Het |
| Cacna2d3 |
C |
T |
14: 28,786,276 (GRCm39) |
|
probably null |
Het |
| Cdh12 |
A |
G |
15: 21,586,380 (GRCm39) |
Y733C |
probably damaging |
Het |
| Cdon |
A |
T |
9: 35,366,722 (GRCm39) |
E199D |
probably benign |
Het |
| Celsr2 |
A |
T |
3: 108,302,526 (GRCm39) |
L558Q |
probably damaging |
Het |
| Clcnkb |
C |
A |
4: 141,135,130 (GRCm39) |
R536L |
probably benign |
Het |
| Cyp3a11 |
G |
A |
5: 145,805,836 (GRCm39) |
Q151* |
probably null |
Het |
| Dnah7a |
A |
T |
1: 53,616,487 (GRCm39) |
V1158E |
probably benign |
Het |
| Dnah8 |
G |
T |
17: 30,940,084 (GRCm39) |
E1677* |
probably null |
Het |
| Dock3 |
T |
C |
9: 106,807,298 (GRCm39) |
N1343S |
probably benign |
Het |
| Dock6 |
T |
A |
9: 21,723,111 (GRCm39) |
E1603D |
probably damaging |
Het |
| Fam91a1 |
C |
T |
15: 58,315,080 (GRCm39) |
T589M |
probably benign |
Het |
| Fat2 |
T |
A |
11: 55,147,479 (GRCm39) |
N3921I |
probably damaging |
Het |
| Gm10188 |
A |
G |
1: 132,157,037 (GRCm39) |
|
probably benign |
Het |
| Grid2ip |
A |
G |
5: 143,376,863 (GRCm39) |
E976G |
probably benign |
Het |
| Hapln3 |
G |
T |
7: 78,771,521 (GRCm39) |
Q123K |
probably benign |
Het |
| Hnrnpul1 |
G |
A |
7: 25,450,329 (GRCm39) |
P128S |
possibly damaging |
Het |
| Hsd3b1 |
T |
A |
3: 98,760,245 (GRCm39) |
I249F |
possibly damaging |
Het |
| Kbtbd3 |
A |
T |
9: 4,331,444 (GRCm39) |
H606L |
probably benign |
Het |
| Krt82 |
T |
C |
15: 101,451,155 (GRCm39) |
Y418C |
probably damaging |
Het |
| Mcm3ap |
C |
A |
10: 76,313,601 (GRCm39) |
A565E |
probably benign |
Het |
| Minar1 |
T |
G |
9: 89,485,155 (GRCm39) |
I81L |
probably damaging |
Het |
| Naip2 |
A |
G |
13: 100,297,505 (GRCm39) |
S844P |
probably damaging |
Het |
| Naip2 |
C |
T |
13: 100,320,297 (GRCm39) |
V240I |
probably benign |
Het |
| Notch2 |
T |
A |
3: 98,009,748 (GRCm39) |
C558* |
probably null |
Het |
| Or2a25 |
A |
T |
6: 42,888,451 (GRCm39) |
|
probably benign |
Het |
| Or4c31 |
T |
G |
2: 88,292,070 (GRCm39) |
Y148D |
probably damaging |
Het |
| Or5d37 |
T |
C |
2: 87,924,107 (GRCm39) |
I58V |
possibly damaging |
Het |
| Osbpl3 |
A |
T |
6: 50,323,312 (GRCm39) |
I257N |
possibly damaging |
Het |
| Pkd1l2 |
T |
A |
8: 117,740,630 (GRCm39) |
T2156S |
probably damaging |
Het |
| Ppp1r13b |
A |
G |
12: 111,797,888 (GRCm39) |
|
probably benign |
Het |
| Ppp3ca |
C |
A |
3: 136,503,573 (GRCm39) |
H49N |
probably damaging |
Het |
| Prrc2c |
A |
T |
1: 162,505,626 (GRCm39) |
L1100I |
probably damaging |
Het |
| Ptpn21 |
A |
C |
12: 98,655,891 (GRCm39) |
|
probably benign |
Het |
| Ptpn7 |
A |
T |
1: 135,070,906 (GRCm39) |
M332L |
probably damaging |
Het |
| Ptprq |
T |
A |
10: 107,503,285 (GRCm39) |
Q791L |
probably benign |
Het |
| Ptprz1 |
G |
A |
6: 23,035,148 (GRCm39) |
R1966H |
probably damaging |
Het |
| Ralgapa1 |
T |
A |
12: 55,763,854 (GRCm39) |
Q1404L |
possibly damaging |
Het |
| Reln |
C |
A |
5: 22,090,546 (GRCm39) |
M3437I |
possibly damaging |
Het |
| S100a7l2 |
A |
T |
3: 90,995,700 (GRCm39) |
F67L |
probably benign |
Het |
| Slc13a1 |
T |
C |
6: 24,137,041 (GRCm39) |
|
probably benign |
Het |
| Slc4a11 |
T |
C |
2: 130,529,075 (GRCm39) |
|
probably null |
Het |
| Slc9a2 |
A |
G |
1: 40,802,762 (GRCm39) |
E604G |
probably benign |
Het |
| Sod3 |
T |
G |
5: 52,525,348 (GRCm39) |
S16A |
possibly damaging |
Het |
| Taok3 |
A |
G |
5: 117,401,678 (GRCm39) |
I650V |
probably benign |
Het |
| Uggt2 |
T |
C |
14: 119,319,211 (GRCm39) |
I270M |
probably damaging |
Het |
| Ugt3a1 |
T |
A |
15: 9,367,487 (GRCm39) |
I410N |
probably damaging |
Het |
| Ush2a |
G |
A |
1: 188,184,043 (GRCm39) |
S1449N |
probably damaging |
Het |
| Usp29 |
A |
T |
7: 6,964,633 (GRCm39) |
M159L |
probably benign |
Het |
| Vmn1r122 |
A |
T |
7: 20,867,649 (GRCm39) |
F135L |
probably benign |
Het |
| Wdr11 |
T |
C |
7: 129,232,890 (GRCm39) |
|
probably benign |
Het |
| Zc3h14 |
T |
A |
12: 98,725,202 (GRCm39) |
|
probably null |
Het |
| Zfp955a |
A |
T |
17: 33,461,426 (GRCm39) |
C235* |
probably null |
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 |
|
|
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 |
|
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 |
|
| Posted On |
2015-12-18 |
Incidental Mutation