Incidental Mutation 'R9391:Npdc1'
ID |
710579 |
Institutional Source |
Beutler Lab
|
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 # |
R9391 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
25293062-25299506 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 25297979 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 176
(M176K)
|
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: M185K
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000049602 Gene: ENSMUSG00000015094 AA Change: M185K
Domain | Start | End | E-Value | Type |
Pfam:NPDC1
|
1 |
341 |
9.1e-234 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000071442
AA Change: M176K
PolyPhen 2
Score 0.724 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000071387 Gene: ENSMUSG00000015094 AA Change: M176K
Domain | Start | End | E-Value | Type |
Pfam:NPDC1
|
1 |
332 |
7.2e-217 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000133409
AA Change: M108K
PolyPhen 2
Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000117773 Gene: ENSMUSG00000015094 AA Change: M108K
Domain | Start | End | E-Value | Type |
Pfam:NPDC1
|
1 |
274 |
3.4e-163 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000141567
AA Change: M175K
PolyPhen 2
Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000116275 Gene: ENSMUSG00000015094 AA Change: M175K
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca5 |
T |
C |
11: 110,178,542 (GRCm39) |
T1144A |
probably benign |
Het |
Adam32 |
C |
T |
8: 25,374,472 (GRCm39) |
E507K |
probably damaging |
Het |
Adgrf3 |
T |
C |
5: 30,400,071 (GRCm39) |
E974G |
possibly damaging |
Het |
Agbl1 |
A |
G |
7: 76,071,602 (GRCm39) |
E560G |
unknown |
Het |
Ank2 |
A |
T |
3: 126,731,394 (GRCm39) |
H671Q |
probably damaging |
Het |
Asic5 |
C |
T |
3: 81,928,366 (GRCm39) |
T485M |
probably benign |
Het |
Bco2 |
T |
C |
9: 50,446,022 (GRCm39) |
|
probably null |
Het |
C1qtnf6 |
A |
G |
15: 78,415,516 (GRCm39) |
C23R |
unknown |
Het |
Ccdc18 |
T |
C |
5: 108,376,770 (GRCm39) |
F1404L |
probably benign |
Het |
Cfap46 |
A |
T |
7: 139,198,027 (GRCm39) |
I2107N |
unknown |
Het |
Cfap97d1 |
G |
T |
11: 101,881,655 (GRCm39) |
R117I |
probably benign |
Het |
Col15a1 |
G |
C |
4: 47,288,200 (GRCm39) |
|
probably benign |
Het |
Cpb2 |
A |
C |
14: 75,508,136 (GRCm39) |
Q199P |
probably damaging |
Het |
Dnah7b |
T |
A |
1: 46,272,914 (GRCm39) |
Y2347* |
probably null |
Het |
Dyrk1a |
T |
A |
16: 94,460,373 (GRCm39) |
C10S |
possibly damaging |
Het |
F2r |
A |
T |
13: 95,740,656 (GRCm39) |
V293D |
probably damaging |
Het |
Gm28363 |
G |
A |
1: 117,626,629 (GRCm39) |
W22* |
probably null |
Het |
Hira |
T |
C |
16: 18,767,892 (GRCm39) |
S696P |
possibly damaging |
Het |
Klhl2 |
A |
G |
8: 65,275,684 (GRCm39) |
V73A |
probably damaging |
Het |
Lalba |
A |
T |
15: 98,380,417 (GRCm39) |
W46R |
probably damaging |
Het |
Map3k13 |
C |
A |
16: 21,740,665 (GRCm39) |
T664N |
probably benign |
Het |
Ncor1 |
T |
A |
11: 62,216,376 (GRCm39) |
K1166* |
probably null |
Het |
Obscn |
A |
G |
11: 58,964,408 (GRCm39) |
S3045P |
probably damaging |
Het |
Or13a20 |
G |
A |
7: 140,232,272 (GRCm39) |
A127T |
probably damaging |
Het |
Plekhg4 |
G |
C |
8: 106,106,043 (GRCm39) |
K813N |
probably damaging |
Het |
Pramel39-ps |
G |
T |
5: 94,451,001 (GRCm39) |
P375H |
probably damaging |
Het |
Prdm12 |
G |
A |
2: 31,544,162 (GRCm39) |
R255H |
probably benign |
Het |
Rbbp8 |
T |
C |
18: 11,854,990 (GRCm39) |
I405T |
possibly damaging |
Het |
Sctr |
A |
G |
1: 119,983,178 (GRCm39) |
T328A |
probably benign |
Het |
Sec63 |
T |
A |
10: 42,681,101 (GRCm39) |
S362T |
probably benign |
Het |
Sgsm2 |
A |
G |
11: 74,744,630 (GRCm39) |
L818P |
probably damaging |
Het |
Shprh |
G |
A |
10: 11,038,633 (GRCm39) |
V463I |
probably benign |
Het |
Smyd5 |
T |
C |
6: 85,418,739 (GRCm39) |
F241S |
probably damaging |
Het |
Tax1bp1 |
T |
A |
6: 52,735,220 (GRCm39) |
Y680* |
probably null |
Het |
Tbc1d17 |
A |
G |
7: 44,494,683 (GRCm39) |
S212P |
probably damaging |
Het |
Tle1 |
A |
T |
4: 72,116,159 (GRCm39) |
V62E |
probably damaging |
Het |
Tnfaip3 |
G |
T |
10: 18,883,075 (GRCm39) |
N163K |
probably damaging |
Het |
Trim8 |
T |
A |
19: 46,503,955 (GRCm39) |
Y502* |
probably null |
Het |
Trip12 |
A |
T |
1: 84,773,473 (GRCm39) |
F54L |
probably benign |
Het |
Trpc2 |
T |
A |
7: 101,745,067 (GRCm39) |
L761Q |
probably damaging |
Het |
Vps41 |
A |
T |
13: 18,994,616 (GRCm39) |
E154D |
probably benign |
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 |
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 |
R9570:Npdc1
|
UTSW |
2 |
25,298,312 (GRCm39) |
missense |
probably benign |
0.10 |
|
Predicted Primers |
PCR Primer
(F):5'- AAAGGCCAAGTCCTGCTGAC -3'
(R):5'- AACTGGAGTCTGAAGCTCAC -3'
Sequencing Primer
(F):5'- TGCTGACTACATGTATATACCCGAC -3'
(R):5'- TGGAGTCTGAAGCTCACCTACAC -3'
|
Posted On |
2022-04-18 |