Incidental Mutation 'R3401:Ndrg3'
| ID |
259180 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ndrg3
|
| Ensembl Gene |
ENSMUSG00000027634 |
| Gene Name |
N-myc downstream regulated gene 3 |
| Synonyms |
4833415O14Rik, Ndr3 |
| MMRRC Submission |
040620-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3401 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
156769265-156833976 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 156790208 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 92
(V92M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000070052
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069600]
[ENSMUST00000072298]
[ENSMUST00000109558]
|
| AlphaFold |
Q9QYF9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000069600
AA Change: V92M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000070052
Gene: ENSMUSG00000027634
AA Change: V92M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ndr
|
32 |
317 |
1.1e-129 |
PFAM |
|
low complexity region
|
335 |
359 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000072298
AA Change: V92M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000072144
Gene: ENSMUSG00000027634
AA Change: V92M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ndr
|
32 |
317 |
1.9e-129 |
PFAM |
|
Pfam:Abhydrolase_6
|
58 |
305 |
1.6e-13 |
PFAM |
|
low complexity region
|
322 |
346 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109558
AA Change: V92M
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000105185
Gene: ENSMUSG00000027634
AA Change: V92M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ndr
|
32 |
252 |
1.8e-99 |
PFAM |
|
Pfam:Abhydrolase_6
|
55 |
237 |
6.1e-11 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131955
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140297
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156491
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156651
|
| Meta Mutation Damage Score |
0.6595 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.3%
|
| Validation Efficiency |
100% (30/30) |
| MGI Phenotype |
PHENOTYPE: Homozygous mutation of this gene results in lethality before weaning. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| B3gat1 |
C |
A |
9: 26,667,149 (GRCm39) |
T127K |
probably damaging |
Het |
| Cactin |
G |
A |
10: 81,161,709 (GRCm39) |
R747H |
probably benign |
Het |
| Cul5 |
A |
T |
9: 53,532,512 (GRCm39) |
M747K |
probably benign |
Het |
| Dennd4c |
C |
T |
4: 86,692,780 (GRCm39) |
P97S |
probably damaging |
Het |
| Dnah3 |
A |
G |
7: 119,566,879 (GRCm39) |
V2449A |
probably benign |
Het |
| Eif1ad |
T |
C |
19: 5,418,276 (GRCm39) |
V20A |
probably benign |
Het |
| Faim2 |
C |
T |
15: 99,418,229 (GRCm39) |
V119I |
probably damaging |
Het |
| Fli1 |
G |
A |
9: 32,372,570 (GRCm39) |
S156L |
probably damaging |
Het |
| Gucy1a2 |
T |
A |
9: 3,635,154 (GRCm39) |
D399E |
probably benign |
Het |
| Hip1r |
A |
G |
5: 124,135,046 (GRCm39) |
E394G |
probably damaging |
Het |
| Htr2a |
T |
C |
14: 74,882,499 (GRCm39) |
S162P |
probably damaging |
Het |
| Naip5 |
G |
A |
13: 100,358,411 (GRCm39) |
Q942* |
probably null |
Het |
| Nlrp4d |
A |
T |
7: 10,096,781 (GRCm39) |
N906K |
probably damaging |
Het |
| Pkd2 |
A |
G |
5: 104,628,193 (GRCm39) |
I422M |
possibly damaging |
Het |
| Polr3b |
C |
T |
10: 84,535,355 (GRCm39) |
T888M |
probably damaging |
Het |
| Ppp1r37 |
C |
T |
7: 19,266,712 (GRCm39) |
A392T |
probably damaging |
Het |
| Ralgapa1 |
T |
C |
12: 55,705,922 (GRCm39) |
T2323A |
possibly damaging |
Het |
| Sntg2 |
A |
G |
12: 30,338,171 (GRCm39) |
|
probably benign |
Het |
| Stard9 |
A |
G |
2: 120,534,170 (GRCm39) |
I3476V |
probably damaging |
Het |
| Tead2 |
T |
A |
7: 44,873,097 (GRCm39) |
|
probably benign |
Het |
| Tma16 |
C |
T |
8: 66,936,823 (GRCm39) |
|
probably null |
Het |
| Tmem74 |
C |
T |
15: 43,730,417 (GRCm39) |
V209M |
probably damaging |
Het |
| Trim25 |
T |
C |
11: 88,901,707 (GRCm39) |
M334T |
probably benign |
Het |
| Uprt |
A |
G |
X: 103,549,864 (GRCm39) |
D310G |
probably damaging |
Het |
| Vmn2r68 |
TCC |
TC |
7: 84,870,758 (GRCm39) |
|
probably null |
Het |
| Zfp157 |
T |
A |
5: 138,455,273 (GRCm39) |
N490K |
probably benign |
Het |
| Zhx1 |
T |
C |
15: 57,917,745 (GRCm39) |
E167G |
probably benign |
Het |
|
| Other mutations in Ndrg3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02793:Ndrg3
|
APN |
2 |
156,791,952 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0277:Ndrg3
|
UTSW |
2 |
156,776,855 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R1335:Ndrg3
|
UTSW |
2 |
156,787,928 (GRCm39) |
splice site |
probably benign |
|
|
R1370:Ndrg3
|
UTSW |
2 |
156,780,570 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3236:Ndrg3
|
UTSW |
2 |
156,785,957 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3403:Ndrg3
|
UTSW |
2 |
156,790,208 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3522:Ndrg3
|
UTSW |
2 |
156,785,947 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4282:Ndrg3
|
UTSW |
2 |
156,790,214 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R5256:Ndrg3
|
UTSW |
2 |
156,773,125 (GRCm39) |
unclassified |
probably benign |
|
|
R5894:Ndrg3
|
UTSW |
2 |
156,770,698 (GRCm39) |
missense |
probably benign |
0.13 |
|
R6399:Ndrg3
|
UTSW |
2 |
156,782,294 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7781:Ndrg3
|
UTSW |
2 |
156,770,733 (GRCm39) |
nonsense |
probably null |
|
|
R8079:Ndrg3
|
UTSW |
2 |
156,779,452 (GRCm39) |
nonsense |
probably null |
|
|
R8932:Ndrg3
|
UTSW |
2 |
156,782,299 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R9436:Ndrg3
|
UTSW |
2 |
156,782,276 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCCTACAGCCTCTTATAGCCCA -3'
(R):5'- CTGGAGTGGACTGCTGAGGA -3'
Sequencing Primer
(F):5'- ATGCCTGCCTAGAGAACTTG -3'
(R):5'- CTGCTGAGGAGAAGGGACTG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation