Incidental Mutation 'IGL00857:Nrdc'
| ID |
12779 |
| 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 # |
IGL00857
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
108857852-108918974 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 108911199 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 774
(I774F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099797
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065977]
[ENSMUST00000102736]
[ENSMUST00000106644]
|
| AlphaFold |
Q8BHG1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000065977
AA Change: I818F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000068328
Gene: ENSMUSG00000053510
AA Change: I818F
| 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 damaging
Transcript: ENSMUST00000102736
AA Change: I774F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000099797
Gene: ENSMUSG00000053510
AA Change: I774F
| 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
AA Change: I886F
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000102255
Gene: ENSMUSG00000053510
AA Change: I886F
| 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 |
noncoding transcript
Transcript: ENSMUST00000125063
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143015
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148444
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150784
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150796
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acr |
A |
G |
15: 89,454,205 (GRCm39) |
T181A |
probably benign |
Het |
| Anks3 |
T |
A |
16: 4,771,793 (GRCm39) |
H77L |
possibly damaging |
Het |
| Cacna1d |
A |
T |
14: 30,072,638 (GRCm39) |
N112K |
possibly damaging |
Het |
| Cd164 |
A |
G |
10: 41,404,691 (GRCm39) |
T150A |
probably benign |
Het |
| Cfap57 |
C |
T |
4: 118,470,120 (GRCm39) |
|
probably null |
Het |
| Cntnap2 |
C |
A |
6: 47,026,358 (GRCm39) |
N61K |
probably benign |
Het |
| Cstdc1 |
A |
G |
2: 148,624,170 (GRCm39) |
D48G |
possibly damaging |
Het |
| Cyp4f39 |
A |
G |
17: 32,708,631 (GRCm39) |
I393V |
probably benign |
Het |
| Dcaf11 |
A |
T |
14: 55,798,742 (GRCm39) |
|
probably benign |
Het |
| Defb7 |
G |
A |
8: 19,547,594 (GRCm39) |
R33Q |
possibly damaging |
Het |
| Dmxl2 |
T |
C |
9: 54,283,604 (GRCm39) |
Y2743C |
probably benign |
Het |
| Enpp2 |
A |
G |
15: 54,739,046 (GRCm39) |
|
probably null |
Het |
| Fam135b |
T |
A |
15: 71,335,465 (GRCm39) |
E576D |
probably benign |
Het |
| Gfpt1 |
T |
A |
6: 87,033,145 (GRCm39) |
N123K |
probably damaging |
Het |
| Hnmt |
T |
C |
2: 23,893,795 (GRCm39) |
D233G |
probably benign |
Het |
| Hsd3b2 |
T |
A |
3: 98,618,859 (GRCm39) |
E362V |
possibly damaging |
Het |
| Hsdl2 |
T |
A |
4: 59,617,735 (GRCm39) |
N487K |
probably benign |
Het |
| Hspa14 |
T |
C |
2: 3,503,796 (GRCm39) |
Y83C |
probably damaging |
Het |
| Itm2b |
T |
C |
14: 73,602,056 (GRCm39) |
N214S |
probably benign |
Het |
| Krt86 |
C |
T |
15: 101,371,741 (GRCm39) |
H104Y |
probably benign |
Het |
| Myocd |
A |
T |
11: 65,069,662 (GRCm39) |
V726D |
possibly damaging |
Het |
| Ncapg |
T |
A |
5: 45,833,927 (GRCm39) |
|
probably null |
Het |
| Pot1a |
T |
C |
6: 25,744,627 (GRCm39) |
I626V |
probably benign |
Het |
| Prkab2 |
C |
T |
3: 97,569,659 (GRCm39) |
A75V |
possibly damaging |
Het |
| Sdr9c7 |
A |
G |
10: 127,734,728 (GRCm39) |
Q72R |
probably benign |
Het |
| Slc16a7 |
A |
C |
10: 125,066,803 (GRCm39) |
Y279D |
probably benign |
Het |
| Slc8a1 |
T |
A |
17: 81,955,308 (GRCm39) |
T577S |
probably benign |
Het |
| Slitrk3 |
G |
A |
3: 72,957,174 (GRCm39) |
L533F |
probably damaging |
Het |
| Tent5a |
C |
A |
9: 85,206,806 (GRCm39) |
V331L |
possibly damaging |
Het |
| Tmeff1 |
T |
C |
4: 48,610,435 (GRCm39) |
V102A |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,583,099 (GRCm39) |
T22598I |
probably damaging |
Het |
| Ube4a |
C |
A |
9: 44,843,684 (GRCm39) |
G977W |
probably damaging |
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 |
|
|
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 |
|
|
IGL02279:Nrdc
|
APN |
4 |
108,881,391 (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 |
2012-12-06 |
Incidental Mutation