Incidental Mutation 'R1335:Ndrg3'
| ID |
156836 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ndrg3
|
| Ensembl Gene |
ENSMUSG00000027634 |
| Gene Name |
N-myc downstream regulated gene 3 |
| Synonyms |
4833415O14Rik, Ndr3 |
| MMRRC Submission |
039400-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1335 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
156769265-156833976 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 156787928 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105185
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069600]
[ENSMUST00000072298]
[ENSMUST00000109558]
|
| AlphaFold |
Q9QYF9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000069600
|
| SMART Domains |
Protein: ENSMUSP00000070052
Gene: ENSMUSG00000027634
| 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 benign
Transcript: ENSMUST00000072298
|
| SMART Domains |
Protein: ENSMUSP00000072144
Gene: ENSMUSG00000027634
| 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 benign
Transcript: ENSMUST00000109558
|
| SMART Domains |
Protein: ENSMUSP00000105185
Gene: ENSMUSG00000027634
| 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
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.7%
|
| Validation Efficiency |
100% (32/32) |
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Amph |
G |
A |
13: 19,326,198 (GRCm39) |
V643M |
probably damaging |
Het |
| Bid |
C |
T |
6: 120,874,216 (GRCm39) |
A110T |
possibly damaging |
Het |
| Cd209d |
T |
A |
8: 3,922,027 (GRCm39) |
D185V |
probably damaging |
Het |
| Cdc42bpb |
T |
C |
12: 111,262,875 (GRCm39) |
Y1484C |
probably damaging |
Het |
| Cdh9 |
T |
C |
15: 16,850,878 (GRCm39) |
V549A |
probably benign |
Het |
| Cmya5 |
C |
T |
13: 93,178,043 (GRCm39) |
V3604M |
possibly damaging |
Het |
| Eprs1 |
T |
A |
1: 185,119,286 (GRCm39) |
W489R |
probably damaging |
Het |
| Galnt14 |
T |
A |
17: 73,833,285 (GRCm39) |
I230F |
probably damaging |
Het |
| Gm19965 |
A |
G |
1: 116,732,349 (GRCm39) |
K64R |
possibly damaging |
Het |
| Gpr141 |
T |
G |
13: 19,936,034 (GRCm39) |
Y247S |
possibly damaging |
Het |
| Ivd |
A |
T |
2: 118,699,923 (GRCm39) |
H52L |
probably benign |
Het |
| Mcoln2 |
A |
G |
3: 145,885,929 (GRCm39) |
H260R |
probably benign |
Het |
| Mdga2 |
T |
C |
12: 66,763,516 (GRCm39) |
|
probably null |
Het |
| Mtarc1 |
C |
T |
1: 184,536,138 (GRCm39) |
R98Q |
probably benign |
Het |
| Or2l13 |
T |
C |
16: 19,305,803 (GRCm39) |
Y72H |
probably benign |
Het |
| Pcdhb17 |
A |
T |
18: 37,619,287 (GRCm39) |
N359I |
probably damaging |
Het |
| Phf24 |
G |
A |
4: 42,934,657 (GRCm39) |
V98I |
probably benign |
Het |
| Pkhd1 |
C |
A |
1: 20,641,629 (GRCm39) |
G270W |
probably damaging |
Het |
| Pkhd1l1 |
G |
A |
15: 44,368,943 (GRCm39) |
V863I |
probably damaging |
Het |
| Prss51 |
T |
G |
14: 64,333,620 (GRCm39) |
|
probably null |
Het |
| Scarb2 |
C |
T |
5: 92,599,205 (GRCm39) |
|
probably null |
Het |
| Simc1 |
ACCA |
ACCANNNNNNNNNNNNNNNNNNCCA |
13: 54,673,078 (GRCm39) |
|
probably benign |
Het |
| Slco1c1 |
T |
A |
6: 141,487,853 (GRCm39) |
Y192N |
probably damaging |
Het |
| Smco2 |
T |
C |
6: 146,763,585 (GRCm39) |
|
probably benign |
Het |
| Snx13 |
A |
G |
12: 35,182,123 (GRCm39) |
D724G |
probably benign |
Het |
| Stard9 |
C |
A |
2: 120,504,117 (GRCm39) |
S221R |
probably damaging |
Het |
| Sytl4 |
GAAAAAA |
GAAAAA |
X: 132,861,875 (GRCm39) |
|
probably benign |
Het |
| Tnr |
A |
G |
1: 159,695,600 (GRCm39) |
T508A |
probably benign |
Het |
| Vmn1r30 |
A |
G |
6: 58,412,080 (GRCm39) |
S251P |
probably damaging |
Het |
| Zdhhc16 |
T |
A |
19: 41,929,073 (GRCm39) |
|
probably null |
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 |
|
|
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 |
|
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'- GCTCTCTTGCTGAGATACACACCAC -3'
(R):5'- GCACACCACACTTGTTTCTAGGCAC -3'
Sequencing Primer
(F):5'- CACAGGCATACTTTGCTTACAG -3'
(R):5'- TAGGCACTACATCACATCCTTTGAG -3'
|
| Posted On |
2014-02-11 |
Incidental Mutation