Incidental Mutation 'R7104:Ndrg1'
| ID |
551077 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ndrg1
|
| Ensembl Gene |
ENSMUSG00000005125 |
| Gene Name |
N-myc downstream regulated gene 1 |
| Synonyms |
DRG1, Ndrl, PROXY1, Tdd5, Ndr1, CMT4D, TDD5, CAP43 |
| MMRRC Submission |
045196-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7104 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
66801167-66841489 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 66818377 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 77
(F77S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000005256
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005256]
[ENSMUST00000163496]
[ENSMUST00000164070]
[ENSMUST00000164675]
[ENSMUST00000166420]
[ENSMUST00000168542]
[ENSMUST00000168979]
[ENSMUST00000170903]
[ENSMUST00000171266]
[ENSMUST00000172447]
|
| AlphaFold |
Q62433 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000005256
AA Change: F77S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000005256
Gene: ENSMUSG00000005125
AA Change: F77S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ndr
|
34 |
316 |
4.4e-130 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000163496
AA Change: F77S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000130584
Gene: ENSMUSG00000005125
AA Change: F77S
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000127075
Gene: ENSMUSG00000005125
AA Change: F42S
| 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 damaging
Transcript: ENSMUST00000168979
AA Change: F77S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000126985
Gene: ENSMUSG00000005125
AA Change: F77S
| 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 |
probably damaging
Transcript: ENSMUST00000170903
AA Change: F77S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000127302
Gene: ENSMUSG00000005125
AA Change: F77S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ndr
|
34 |
157 |
1.2e-62 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171266
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172447
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agbl2 |
A |
G |
2: 90,627,891 (GRCm39) |
E232G |
probably damaging |
Het |
| Atf7 |
A |
G |
15: 102,442,670 (GRCm39) |
S480P |
probably benign |
Het |
| Cdk14 |
A |
G |
5: 5,245,325 (GRCm39) |
I166T |
possibly damaging |
Het |
| Cdk5rap2 |
G |
T |
4: 70,267,393 (GRCm39) |
F358L |
probably benign |
Het |
| Cplane1 |
T |
C |
15: 8,223,928 (GRCm39) |
L897P |
possibly damaging |
Het |
| Cytip |
A |
G |
2: 58,049,986 (GRCm39) |
S28P |
probably benign |
Het |
| Dennd5b |
C |
T |
6: 148,946,102 (GRCm39) |
R503Q |
probably damaging |
Het |
| Dnajc10 |
T |
A |
2: 80,171,159 (GRCm39) |
C480S |
probably damaging |
Het |
| Drc7 |
A |
G |
8: 95,785,711 (GRCm39) |
D189G |
probably damaging |
Het |
| Engase |
G |
A |
11: 118,372,121 (GRCm39) |
V138M |
probably damaging |
Het |
| Esyt3 |
C |
A |
9: 99,220,840 (GRCm39) |
R121L |
probably damaging |
Het |
| Frem1 |
T |
G |
4: 82,858,918 (GRCm39) |
I1516L |
probably benign |
Het |
| Gatad2b |
T |
A |
3: 90,258,724 (GRCm39) |
I249N |
probably damaging |
Het |
| Grk6 |
T |
C |
13: 55,602,219 (GRCm39) |
S383P |
probably benign |
Het |
| Hectd1 |
C |
T |
12: 51,874,134 (GRCm39) |
|
probably null |
Het |
| Hipk2 |
A |
G |
6: 38,795,579 (GRCm39) |
L230P |
probably damaging |
Het |
| Hivep1 |
A |
T |
13: 42,310,814 (GRCm39) |
Q1018L |
probably benign |
Het |
| Itgad |
T |
C |
7: 127,797,550 (GRCm39) |
F927S |
probably benign |
Het |
| Itgb3bp |
A |
G |
4: 99,702,335 (GRCm39) |
V3A |
probably damaging |
Het |
| Kcnh7 |
G |
T |
2: 62,618,031 (GRCm39) |
A486D |
possibly damaging |
Het |
| Krt1c |
T |
C |
15: 101,723,522 (GRCm39) |
T318A |
probably benign |
Het |
| Nlrp4c |
T |
A |
7: 6,068,708 (GRCm39) |
L203* |
probably null |
Het |
| Nos1 |
T |
A |
5: 118,085,496 (GRCm39) |
C1275S |
probably damaging |
Het |
| Or14a256 |
T |
C |
7: 86,264,900 (GRCm39) |
S318G |
probably null |
Het |
| Or4a69 |
A |
G |
2: 89,313,458 (GRCm39) |
V7A |
possibly damaging |
Het |
| Or5an9 |
T |
C |
19: 12,187,242 (GRCm39) |
I104T |
possibly damaging |
Het |
| Or5d39 |
T |
C |
2: 87,979,716 (GRCm39) |
T216A |
possibly damaging |
Het |
| Or5j3 |
T |
A |
2: 86,128,564 (GRCm39) |
S135T |
probably benign |
Het |
| Or8b12b |
A |
T |
9: 37,684,437 (GRCm39) |
N161Y |
possibly damaging |
Het |
| Pip4k2b |
T |
C |
11: 97,623,542 (GRCm39) |
M67V |
possibly damaging |
Het |
| Polq |
C |
A |
16: 36,909,715 (GRCm39) |
Y2366* |
probably null |
Het |
| Prg3 |
T |
C |
2: 84,819,097 (GRCm39) |
S8P |
probably benign |
Het |
| Prl7c1 |
A |
T |
13: 27,962,952 (GRCm39) |
L17* |
probably null |
Het |
| Prl8a8 |
A |
T |
13: 27,695,479 (GRCm39) |
S51R |
probably damaging |
Het |
| Pttg1 |
G |
C |
11: 43,311,976 (GRCm39) |
P160A |
probably benign |
Het |
| Rbfox1 |
C |
A |
16: 7,170,867 (GRCm39) |
R276S |
possibly damaging |
Het |
| Rnase2a |
T |
G |
14: 51,492,988 (GRCm39) |
M126L |
probably benign |
Het |
| Secisbp2 |
A |
T |
13: 51,810,943 (GRCm39) |
K202* |
probably null |
Het |
| Sema6c |
A |
G |
3: 95,076,156 (GRCm39) |
H236R |
possibly damaging |
Het |
| Septin12 |
A |
G |
16: 4,809,857 (GRCm39) |
L181P |
probably damaging |
Het |
| Shc3 |
A |
T |
13: 51,585,241 (GRCm39) |
V458D |
possibly damaging |
Het |
| Tecta |
A |
G |
9: 42,278,239 (GRCm39) |
Y1090H |
probably benign |
Het |
| Thsd7a |
A |
T |
6: 12,379,429 (GRCm39) |
N998K |
|
Het |
| Tmem131l |
A |
T |
3: 83,826,766 (GRCm39) |
S1184T |
possibly damaging |
Het |
| Tnfsf15 |
T |
C |
4: 63,647,887 (GRCm39) |
D251G |
probably damaging |
Het |
| Ttyh3 |
T |
C |
5: 140,615,540 (GRCm39) |
E348G |
probably benign |
Het |
| Unc5c |
T |
C |
3: 141,439,665 (GRCm39) |
L186P |
probably damaging |
Het |
| Vmn2r37 |
A |
T |
7: 9,219,045 (GRCm39) |
N446K |
probably damaging |
Het |
| Vmn2r63 |
T |
C |
7: 42,577,959 (GRCm39) |
D193G |
possibly damaging |
Het |
| Vmn2r85 |
A |
T |
10: 130,262,376 (GRCm39) |
M121K |
probably benign |
Het |
| Vmn2r88 |
A |
G |
14: 51,651,253 (GRCm39) |
D189G |
|
Het |
| Vwc2l |
C |
A |
1: 70,768,252 (GRCm39) |
C105* |
probably null |
Het |
| Wdr72 |
T |
A |
9: 74,055,597 (GRCm39) |
D275E |
probably damaging |
Het |
| Zfhx4 |
A |
T |
3: 5,467,549 (GRCm39) |
D2594V |
probably damaging |
Het |
| Zfp174 |
C |
T |
16: 3,672,269 (GRCm39) |
H273Y |
probably benign |
Het |
| Zwilch |
A |
G |
9: 64,068,658 (GRCm39) |
S203P |
probably 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 |
|
IGL03206:Ndrg1
|
APN |
15 |
66,814,936 (GRCm39) |
nonsense |
probably null |
|
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTGTTTTACCCAGGCTGGC -3'
(R):5'- TATCACCAGAGGGAGGTCTG -3'
Sequencing Primer
(F):5'- ACCCAGGCTGGCATTTC -3'
(R):5'- GTGAAACTTGTCTAGAACTCCATGGG -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation