Incidental Mutation 'R6399:Ndrg3'
| ID |
516092 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ndrg3
|
| Ensembl Gene |
ENSMUSG00000027634 |
| Gene Name |
N-myc downstream regulated gene 3 |
| Synonyms |
4833415O14Rik, Ndr3 |
| MMRRC Submission |
044546-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6399 (G1)
|
| Quality Score |
185.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
156769265-156833976 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to G
at 156782294 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Proline
at position 191
(A191P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000072144
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069600]
[ENSMUST00000072298]
[ENSMUST00000109558]
|
| AlphaFold |
Q9QYF9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000069600
AA Change: A191P
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000070052
Gene: ENSMUSG00000027634
AA Change: A191P
| 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: A191P
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000072144
Gene: ENSMUSG00000027634
AA Change: A191P
| 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: A191P
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000105185
Gene: ENSMUSG00000027634
AA Change: A191P
| 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: ENSMUST00000140297
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156491
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.8%
- 10x: 98.9%
- 20x: 95.7%
|
| Validation Efficiency |
97% (28/29) |
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A430033K04Rik |
T |
C |
5: 138,645,821 (GRCm39) |
C569R |
probably damaging |
Het |
| Acadsb |
T |
A |
7: 131,031,784 (GRCm39) |
W207R |
probably damaging |
Het |
| Apbb2 |
C |
T |
5: 66,608,810 (GRCm39) |
|
probably null |
Het |
| Atad2b |
T |
C |
12: 5,007,558 (GRCm39) |
V415A |
probably damaging |
Het |
| Ccdc150 |
G |
A |
1: 54,303,116 (GRCm39) |
|
probably null |
Het |
| Cep20 |
TTGTG |
TTG |
16: 14,118,009 (GRCm39) |
|
probably null |
Het |
| Chd7 |
A |
G |
4: 8,828,274 (GRCm39) |
T1072A |
probably damaging |
Het |
| Depdc1b |
T |
A |
13: 108,460,580 (GRCm39) |
F63L |
probably damaging |
Het |
| Dnah2 |
C |
T |
11: 69,349,344 (GRCm39) |
V2431M |
probably damaging |
Het |
| Dnajc14 |
A |
G |
10: 128,643,359 (GRCm39) |
E427G |
probably damaging |
Het |
| Flnc |
A |
G |
6: 29,458,882 (GRCm39) |
E2421G |
probably damaging |
Het |
| Kcna4 |
T |
C |
2: 107,126,894 (GRCm39) |
S543P |
probably damaging |
Het |
| Lrrc30 |
T |
A |
17: 67,939,681 (GRCm39) |
|
probably benign |
Het |
| Msh6 |
T |
A |
17: 88,294,319 (GRCm39) |
S1025T |
probably damaging |
Het |
| Or1o4 |
T |
C |
17: 37,590,666 (GRCm39) |
Y215C |
probably damaging |
Het |
| Or5aq7 |
C |
T |
2: 86,938,330 (GRCm39) |
V134I |
probably benign |
Het |
| Or5p5 |
A |
G |
7: 107,413,961 (GRCm39) |
T57A |
possibly damaging |
Het |
| Pls1 |
A |
G |
9: 95,636,798 (GRCm39) |
I558T |
probably damaging |
Het |
| Rnf34 |
T |
C |
5: 122,999,839 (GRCm39) |
F32L |
probably benign |
Het |
| Serpinb9g |
A |
T |
13: 33,676,834 (GRCm39) |
L205F |
probably benign |
Het |
| Tbc1d24 |
T |
A |
17: 24,427,303 (GRCm39) |
I220F |
probably damaging |
Het |
| Thsd7b |
A |
T |
1: 129,744,385 (GRCm39) |
T758S |
probably benign |
Het |
| Trak1 |
A |
G |
9: 121,282,562 (GRCm39) |
|
probably null |
Het |
| Ttn |
G |
C |
2: 76,556,407 (GRCm39) |
F30199L |
probably benign |
Het |
| Ttn |
T |
G |
2: 76,556,406 (GRCm39) |
S30200R |
probably damaging |
Het |
| Uggt1 |
T |
C |
1: 36,202,447 (GRCm39) |
D1050G |
possibly damaging |
Het |
| Veph1 |
T |
A |
3: 66,033,312 (GRCm39) |
S605C |
probably benign |
Het |
| Wbp1 |
A |
G |
6: 83,096,982 (GRCm39) |
|
probably benign |
Het |
| Ythdc2 |
C |
A |
18: 45,019,469 (GRCm39) |
Q1413K |
possibly damaging |
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 |
|
R3401:Ndrg3
|
UTSW |
2 |
156,790,208 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- TGAGTGCCAAGATCCGTGAG -3'
(R):5'- TAGTGGACAGCCTGTGAAATAC -3'
Sequencing Primer
(F):5'- CATGCTCTTTGCAGGATC -3'
(R):5'- AGACAGGGTTTCTCTGTATAGCCC -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation