Incidental Mutation 'IGL03206:Ndrg1'
| ID |
413145 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ndrg1
|
| Ensembl Gene |
ENSMUSG00000005125 |
| Gene Name |
N-myc downstream regulated gene 1 |
| Synonyms |
DRG1, Ndrl, PROXY1, Tdd5, Ndr1, CMT4D, TDD5, CAP43 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03206
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
66801167-66841489 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 66814936 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Stop codon
at position 172
(W172*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126985
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005256]
[ENSMUST00000163496]
[ENSMUST00000164070]
[ENSMUST00000164675]
[ENSMUST00000166420]
[ENSMUST00000168542]
[ENSMUST00000168979]
[ENSMUST00000172447]
[ENSMUST00000170903]
[ENSMUST00000171266]
|
| AlphaFold |
Q62433 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000005256
AA Change: W172*
|
| SMART Domains |
Protein: ENSMUSP00000005256
Gene: ENSMUSG00000005125
AA Change: W172*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ndr
|
34 |
316 |
4.4e-130 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163496
|
| SMART Domains |
Protein: ENSMUSP00000130584
Gene: ENSMUSG00000005125
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ndr
|
34 |
155 |
1.2e-61 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164070
|
| SMART Domains |
Protein: ENSMUSP00000126091
Gene: ENSMUSG00000005125
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ndr
|
18 |
53 |
8.5e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164675
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166420
|
| SMART Domains |
Protein: ENSMUSP00000127099
Gene: ENSMUSG00000005125
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ndr
|
17 |
132 |
1.4e-34 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000167817
AA Change: W116*
|
| SMART Domains |
Protein: ENSMUSP00000127075
Gene: ENSMUSG00000005125
AA Change: W116*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ndr
|
1 |
76 |
1.7e-35 |
PFAM |
|
Pfam:Ndr
|
73 |
119 |
2.8e-21 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168542
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000168979
AA Change: W172*
|
| SMART Domains |
Protein: ENSMUSP00000126985
Gene: ENSMUSG00000005125
AA Change: W172*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ndr
|
34 |
174 |
6.3e-72 |
PFAM |
|
Pfam:Abhydrolase_6
|
53 |
173 |
5.3e-11 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171569
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172447
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170903
|
| SMART Domains |
Protein: ENSMUSP00000127302
Gene: ENSMUSG00000005125
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ndr
|
34 |
157 |
1.2e-62 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171266
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the N-myc downregulated gene family which belongs to the alpha/beta hydrolase superfamily. The protein encoded by this gene is a cytoplasmic protein involved in stress responses, hormone responses, cell growth, and differentiation. The encoded protein is necessary for p53-mediated caspase activation and apoptosis. Mutations in this gene are a cause of Charcot-Marie-Tooth disease type 4D, and expression of this gene may be a prognostic indicator for several types of cancer. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]
PHENOTYPE: Homozygous null mice exhibit a progressive demyelinating disorder of the peripheral nerves with hindlimb weakness. Mice homozygous for a different knock-out allele exhibit decreased cellular susceptibility to gamma-irradiation and increased susceptibility to spontaneous and induced tumors. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
T |
A |
6: 128,530,239 (GRCm39) |
E939D |
possibly damaging |
Het |
| Aloxe3 |
C |
A |
11: 69,020,472 (GRCm39) |
A172D |
possibly damaging |
Het |
| Bscl2 |
G |
A |
19: 8,820,453 (GRCm39) |
R158Q |
probably damaging |
Het |
| Cdon |
A |
G |
9: 35,414,602 (GRCm39) |
D1159G |
probably benign |
Het |
| Cep164 |
A |
G |
9: 45,714,023 (GRCm39) |
V203A |
probably benign |
Het |
| Chml |
T |
C |
1: 175,515,303 (GRCm39) |
D206G |
probably benign |
Het |
| E2f6 |
T |
C |
12: 16,872,090 (GRCm39) |
|
probably benign |
Het |
| Emilin3 |
T |
A |
2: 160,752,719 (GRCm39) |
Y77F |
probably damaging |
Het |
| Fbxw15 |
A |
T |
9: 109,394,430 (GRCm39) |
N128K |
possibly damaging |
Het |
| Gjd2 |
A |
G |
2: 113,842,204 (GRCm39) |
L91P |
probably damaging |
Het |
| Gm12830 |
T |
A |
4: 114,702,314 (GRCm39) |
|
probably benign |
Het |
| Gpr161 |
T |
A |
1: 165,149,218 (GRCm39) |
L529Q |
probably damaging |
Het |
| Hoxd10 |
T |
A |
2: 74,522,776 (GRCm39) |
Y151* |
probably null |
Het |
| Iars1 |
A |
G |
13: 49,846,546 (GRCm39) |
D215G |
possibly damaging |
Het |
| Ift140 |
T |
C |
17: 25,311,800 (GRCm39) |
V1241A |
probably damaging |
Het |
| Kdm5b |
A |
G |
1: 134,555,055 (GRCm39) |
N1321S |
probably benign |
Het |
| Lrat |
T |
A |
3: 82,810,656 (GRCm39) |
I122F |
probably damaging |
Het |
| Myl10 |
C |
T |
5: 136,726,796 (GRCm39) |
Q106* |
probably null |
Het |
| Ncapd2 |
A |
T |
6: 125,148,660 (GRCm39) |
Y1018N |
possibly damaging |
Het |
| Nphs2 |
T |
C |
1: 156,153,701 (GRCm39) |
M264T |
probably damaging |
Het |
| Nrxn3 |
A |
T |
12: 89,227,278 (GRCm39) |
R677S |
possibly damaging |
Het |
| Nudt12 |
T |
C |
17: 59,314,667 (GRCm39) |
T306A |
probably benign |
Het |
| Numb |
A |
G |
12: 83,872,070 (GRCm39) |
|
probably benign |
Het |
| Or10h28 |
T |
A |
17: 33,487,725 (GRCm39) |
I9K |
possibly damaging |
Het |
| Or2y1 |
A |
T |
11: 49,385,536 (GRCm39) |
M59L |
probably benign |
Het |
| Or5p58 |
C |
T |
7: 107,694,261 (GRCm39) |
C172Y |
probably damaging |
Het |
| Pbld2 |
T |
A |
10: 62,883,261 (GRCm39) |
D94E |
probably benign |
Het |
| Pkd1l3 |
C |
A |
8: 110,350,345 (GRCm39) |
Q397K |
probably benign |
Het |
| Ppp4r3a |
A |
T |
12: 101,024,878 (GRCm39) |
L207H |
probably damaging |
Het |
| Ranbp2 |
T |
A |
10: 58,301,369 (GRCm39) |
I674N |
probably damaging |
Het |
| Retnlg |
G |
T |
16: 48,694,655 (GRCm39) |
C101F |
probably damaging |
Het |
| Rif1 |
T |
A |
2: 51,993,634 (GRCm39) |
I849N |
probably damaging |
Het |
| Serpinb9d |
T |
C |
13: 33,382,014 (GRCm39) |
I161T |
possibly damaging |
Het |
| Slc17a6 |
T |
C |
7: 51,315,771 (GRCm39) |
|
probably benign |
Het |
| Smg8 |
A |
C |
11: 86,976,814 (GRCm39) |
|
probably null |
Het |
| Spata31d1c |
C |
A |
13: 65,183,407 (GRCm39) |
N316K |
probably benign |
Het |
| Tlr1 |
A |
G |
5: 65,082,400 (GRCm39) |
S726P |
probably damaging |
Het |
| Trim69 |
A |
C |
2: 122,003,636 (GRCm39) |
D195A |
probably benign |
Het |
| Ttc16 |
T |
G |
2: 32,661,897 (GRCm39) |
|
probably null |
Het |
| Usp53 |
T |
A |
3: 122,746,832 (GRCm39) |
M405L |
probably benign |
Het |
| Ywhag |
G |
A |
5: 135,939,914 (GRCm39) |
R227* |
probably null |
Het |
| Zfp335 |
G |
T |
2: 164,734,601 (GRCm39) |
|
probably benign |
Het |
| Zfp607a |
T |
C |
7: 27,577,248 (GRCm39) |
I106T |
possibly damaging |
Het |
| Zfp959 |
T |
C |
17: 56,204,613 (GRCm39) |
S214P |
possibly damaging |
Het |
| Zfyve9 |
T |
C |
4: 108,546,406 (GRCm39) |
M868V |
possibly damaging |
Het |
|
| Other mutations in Ndrg1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00923:Ndrg1
|
APN |
15 |
66,814,959 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01419:Ndrg1
|
APN |
15 |
66,802,900 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02618:Ndrg1
|
APN |
15 |
66,812,086 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02869:Ndrg1
|
APN |
15 |
66,818,346 (GRCm39) |
missense |
probably benign |
0.01 |
|
PIT4377001:Ndrg1
|
UTSW |
15 |
66,820,288 (GRCm39) |
missense |
probably benign |
|
|
R0328:Ndrg1
|
UTSW |
15 |
66,815,008 (GRCm39) |
splice site |
probably benign |
|
|
R1102:Ndrg1
|
UTSW |
15 |
66,816,685 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1105:Ndrg1
|
UTSW |
15 |
66,812,080 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1748:Ndrg1
|
UTSW |
15 |
66,802,930 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R1875:Ndrg1
|
UTSW |
15 |
66,802,940 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5214:Ndrg1
|
UTSW |
15 |
66,831,239 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5809:Ndrg1
|
UTSW |
15 |
66,802,699 (GRCm39) |
unclassified |
probably benign |
|
|
R6433:Ndrg1
|
UTSW |
15 |
66,805,721 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7104:Ndrg1
|
UTSW |
15 |
66,818,377 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7412:Ndrg1
|
UTSW |
15 |
66,832,382 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R7424:Ndrg1
|
UTSW |
15 |
66,816,787 (GRCm39) |
splice site |
probably null |
|
|
R7667:Ndrg1
|
UTSW |
15 |
66,820,243 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9220:Ndrg1
|
UTSW |
15 |
66,805,711 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation