Incidental Mutation 'IGL02279:Nrdc'
| ID |
289794 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nrdc
|
| Ensembl Gene |
ENSMUSG00000053510 |
| Gene Name |
nardilysin convertase |
| Synonyms |
NRD-C, Nrd1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.160)
|
| Stock # |
IGL02279
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
108857852-108918974 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 108881391 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122808
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065977]
[ENSMUST00000102736]
[ENSMUST00000106644]
[ENSMUST00000125645]
|
| AlphaFold |
Q8BHG1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000065977
|
| SMART Domains |
Protein: ENSMUSP00000068328
Gene: ENSMUSG00000053510
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
139 |
165 |
N/A |
INTRINSIC |
|
low complexity region
|
172 |
209 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_M16
|
210 |
348 |
1.1e-43 |
PFAM |
|
Pfam:Peptidase_M16_C
|
373 |
559 |
2.3e-22 |
PFAM |
|
Pfam:Peptidase_M16_C
|
849 |
1032 |
1.5e-14 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102736
|
| SMART Domains |
Protein: ENSMUSP00000099797
Gene: ENSMUSG00000053510
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
139 |
165 |
N/A |
INTRINSIC |
|
low complexity region
|
172 |
209 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_M16
|
210 |
348 |
1.4e-43 |
PFAM |
|
Pfam:Peptidase_M16_C
|
400 |
515 |
1.1e-9 |
PFAM |
|
Pfam:Peptidase_M16_C
|
805 |
988 |
2e-14 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106644
|
| SMART Domains |
Protein: ENSMUSP00000102255
Gene: ENSMUSG00000053510
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
139 |
165 |
N/A |
INTRINSIC |
|
coiled coil region
|
187 |
225 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_M16
|
281 |
416 |
1e-41 |
PFAM |
|
Pfam:Peptidase_M16_C
|
441 |
627 |
2.2e-23 |
PFAM |
|
Pfam:Peptidase_M16_M
|
631 |
913 |
1e-91 |
PFAM |
|
Pfam:Peptidase_M16_C
|
917 |
1100 |
6e-15 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125645
|
| SMART Domains |
Protein: ENSMUSP00000122808
Gene: ENSMUSG00000053510
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peptidase_M16
|
1 |
100 |
6.4e-27 |
PFAM |
|
Pfam:Peptidase_M16_C
|
125 |
311 |
1.9e-23 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155228
|
| 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 encodes a zinc-dependent endopeptidase that cleaves peptide substrates at the N-terminus of arginine residues in dibasic moieties and is a member of the peptidase M16 family. This protein interacts with heparin-binding EGF-like growth factor and plays a role in cell migration and proliferation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011]
PHENOTYPE: Mice homozygous for a knock-out allele mostly die within 48 hours of birth with surviving mice exhibiting cortical thinning, enlarged lateral ventricles, hypomyelination, reduced grip strength, impaired coordination, and impaired spatial working memory. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 18 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb10 |
T |
C |
8: 124,681,100 (GRCm39) |
S699G |
probably benign |
Het |
| Ak2 |
C |
T |
4: 128,893,030 (GRCm39) |
A63V |
probably benign |
Het |
| Bckdha |
T |
C |
7: 25,330,534 (GRCm39) |
Y354C |
probably damaging |
Het |
| Ess2 |
T |
C |
16: 17,720,775 (GRCm39) |
E357G |
possibly damaging |
Het |
| Fmod |
T |
A |
1: 133,968,235 (GRCm39) |
C92S |
probably damaging |
Het |
| Gdpd1 |
T |
C |
11: 86,964,727 (GRCm39) |
Y26C |
probably benign |
Het |
| Gpr45 |
T |
C |
1: 43,071,998 (GRCm39) |
S214P |
probably damaging |
Het |
| Lmod3 |
A |
G |
6: 97,224,633 (GRCm39) |
V396A |
probably damaging |
Het |
| Lpcat3 |
A |
G |
6: 124,675,072 (GRCm39) |
Y64C |
probably damaging |
Het |
| Or5i1 |
C |
T |
2: 87,613,576 (GRCm39) |
R231C |
probably damaging |
Het |
| Or6n2 |
T |
A |
1: 173,896,957 (GRCm39) |
L31Q |
probably null |
Het |
| Or8c16 |
T |
C |
9: 38,130,389 (GRCm39) |
V90A |
probably benign |
Het |
| Pcnt |
T |
C |
10: 76,239,599 (GRCm39) |
D1296G |
probably damaging |
Het |
| Pitpnm1 |
T |
A |
19: 4,151,207 (GRCm39) |
I8N |
probably damaging |
Het |
| Sel1l |
T |
C |
12: 91,781,771 (GRCm39) |
N538S |
probably damaging |
Het |
| Srrm2 |
T |
G |
17: 24,034,306 (GRCm39) |
|
probably benign |
Het |
| Svs3b |
G |
T |
2: 164,098,124 (GRCm39) |
Q66K |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,640,634 (GRCm39) |
K11959* |
probably null |
Het |
|
| Other mutations in Nrdc |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00577:Nrdc
|
APN |
4 |
108,903,884 (GRCm39) |
unclassified |
probably benign |
|
|
IGL00857:Nrdc
|
APN |
4 |
108,911,199 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01417:Nrdc
|
APN |
4 |
108,858,027 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL01457:Nrdc
|
APN |
4 |
108,904,857 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02112:Nrdc
|
APN |
4 |
108,884,629 (GRCm39) |
splice site |
probably benign |
|
|
IGL02332:Nrdc
|
APN |
4 |
108,858,185 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02890:Nrdc
|
APN |
4 |
108,911,116 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
IGL03179:Nrdc
|
APN |
4 |
108,903,888 (GRCm39) |
unclassified |
probably benign |
|
|
PIT4354001:Nrdc
|
UTSW |
4 |
108,911,222 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0551:Nrdc
|
UTSW |
4 |
108,904,905 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1468:Nrdc
|
UTSW |
4 |
108,873,865 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1468:Nrdc
|
UTSW |
4 |
108,873,865 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1990:Nrdc
|
UTSW |
4 |
108,896,972 (GRCm39) |
nonsense |
probably null |
|
|
R4391:Nrdc
|
UTSW |
4 |
108,903,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4994:Nrdc
|
UTSW |
4 |
108,903,809 (GRCm39) |
missense |
probably benign |
|
|
R5164:Nrdc
|
UTSW |
4 |
108,896,914 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5229:Nrdc
|
UTSW |
4 |
108,906,305 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5387:Nrdc
|
UTSW |
4 |
108,896,959 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5530:Nrdc
|
UTSW |
4 |
108,904,806 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5672:Nrdc
|
UTSW |
4 |
108,895,242 (GRCm39) |
nonsense |
probably null |
|
|
R5990:Nrdc
|
UTSW |
4 |
108,876,268 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6018:Nrdc
|
UTSW |
4 |
108,870,944 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6106:Nrdc
|
UTSW |
4 |
108,901,782 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6114:Nrdc
|
UTSW |
4 |
108,901,782 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6140:Nrdc
|
UTSW |
4 |
108,906,308 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6285:Nrdc
|
UTSW |
4 |
108,895,203 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6824:Nrdc
|
UTSW |
4 |
108,900,622 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7019:Nrdc
|
UTSW |
4 |
108,885,999 (GRCm39) |
missense |
probably benign |
0.33 |
|
R7353:Nrdc
|
UTSW |
4 |
108,896,946 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7735:Nrdc
|
UTSW |
4 |
108,895,182 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8261:Nrdc
|
UTSW |
4 |
108,873,876 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R8340:Nrdc
|
UTSW |
4 |
108,858,351 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8352:Nrdc
|
UTSW |
4 |
108,876,260 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8368:Nrdc
|
UTSW |
4 |
108,870,895 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8452:Nrdc
|
UTSW |
4 |
108,876,260 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9350:Nrdc
|
UTSW |
4 |
108,889,658 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9428:Nrdc
|
UTSW |
4 |
108,858,121 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9516:Nrdc
|
UTSW |
4 |
108,901,863 (GRCm39) |
missense |
probably benign |
|
|
R9526:Nrdc
|
UTSW |
4 |
108,915,833 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation