Incidental Mutation 'IGL00731:Npnt'
ID |
12772 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Npnt
|
Ensembl Gene |
ENSMUSG00000040998 |
Gene Name |
nephronectin |
Synonyms |
POEM, 1110009H02Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.132)
|
Stock # |
IGL00731
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
132587506-132656052 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (1 bp from exon) |
DNA Base Change (assembly) |
C to T
at 132610418 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113752
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042729]
[ENSMUST00000042744]
[ENSMUST00000093971]
[ENSMUST00000117164]
[ENSMUST00000117456]
[ENSMUST00000117811]
|
AlphaFold |
Q91V88 |
Predicted Effect |
probably null
Transcript: ENSMUST00000042729
|
SMART Domains |
Protein: ENSMUSP00000040071 Gene: ENSMUSG00000040998
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
EGF
|
76 |
104 |
1.53e-1 |
SMART |
EGF_CA
|
106 |
145 |
1.85e-9 |
SMART |
EGF
|
149 |
185 |
1.73e1 |
SMART |
EGF
|
189 |
230 |
7.53e-1 |
SMART |
EGF_CA
|
231 |
271 |
5.31e-10 |
SMART |
low complexity region
|
324 |
383 |
N/A |
INTRINSIC |
Pfam:MAM
|
439 |
578 |
8.2e-28 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000042744
|
SMART Domains |
Protein: ENSMUSP00000040684 Gene: ENSMUSG00000040998
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
EGF
|
59 |
87 |
7.6e-4 |
SMART |
EGF_CA
|
89 |
128 |
9e-12 |
SMART |
EGF
|
132 |
168 |
8.5e-2 |
SMART |
EGF
|
172 |
213 |
3.5e-3 |
SMART |
EGF_CA
|
214 |
254 |
2.6e-12 |
SMART |
low complexity region
|
307 |
366 |
N/A |
INTRINSIC |
MAM
|
417 |
560 |
1.4e-11 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000093971
|
SMART Domains |
Protein: ENSMUSP00000091505 Gene: ENSMUSG00000040998
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
EGF
|
76 |
104 |
1.53e-1 |
SMART |
EGF_CA
|
137 |
176 |
1.85e-9 |
SMART |
EGF
|
180 |
216 |
1.73e1 |
SMART |
EGF
|
220 |
261 |
7.53e-1 |
SMART |
EGF_CA
|
262 |
302 |
5.31e-10 |
SMART |
low complexity region
|
355 |
414 |
N/A |
INTRINSIC |
Pfam:MAM
|
470 |
609 |
1.9e-23 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000117164
|
SMART Domains |
Protein: ENSMUSP00000113419 Gene: ENSMUSG00000040998
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
EGF
|
59 |
87 |
1.53e-1 |
SMART |
EGF_CA
|
120 |
159 |
1.85e-9 |
SMART |
EGF
|
163 |
199 |
1.73e1 |
SMART |
EGF
|
203 |
244 |
7.53e-1 |
SMART |
EGF_CA
|
245 |
285 |
5.31e-10 |
SMART |
low complexity region
|
338 |
397 |
N/A |
INTRINSIC |
Pfam:MAM
|
453 |
592 |
8.6e-28 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000117456
|
SMART Domains |
Protein: ENSMUSP00000112816 Gene: ENSMUSG00000040998
Domain | Start | End | E-Value | Type |
EGF
|
28 |
64 |
1.73e1 |
SMART |
EGF
|
68 |
109 |
7.53e-1 |
SMART |
EGF_CA
|
110 |
150 |
5.31e-10 |
SMART |
low complexity region
|
203 |
262 |
N/A |
INTRINSIC |
Pfam:MAM
|
318 |
457 |
5.3e-28 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000117811
|
SMART Domains |
Protein: ENSMUSP00000113752 Gene: ENSMUSG00000040998
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
EGF
|
59 |
87 |
1.53e-1 |
SMART |
EGF_CA
|
89 |
128 |
1.85e-9 |
SMART |
EGF
|
132 |
168 |
1.73e1 |
SMART |
EGF
|
172 |
213 |
7.53e-1 |
SMART |
EGF_CA
|
214 |
254 |
5.31e-10 |
SMART |
low complexity region
|
307 |
366 |
N/A |
INTRINSIC |
Pfam:MAM
|
393 |
532 |
3.3e-28 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132732
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a null allele frequently exhibit kidney agenesis or hypoplasia attributed to a delay in the invasion of the metanephric mesenchyme by the ureteric bud at an early stage of kidney development. [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 |
Aars1 |
A |
G |
8: 111,771,501 (GRCm39) |
|
probably benign |
Het |
Adcy10 |
T |
C |
1: 165,400,183 (GRCm39) |
F1531L |
probably benign |
Het |
Cgas |
G |
A |
9: 78,342,770 (GRCm39) |
P344L |
probably damaging |
Het |
Dab2 |
T |
C |
15: 6,465,191 (GRCm39) |
S463P |
possibly damaging |
Het |
Ehf |
C |
T |
2: 103,097,185 (GRCm39) |
|
probably null |
Het |
Fnbp4 |
G |
T |
2: 90,598,987 (GRCm39) |
V704L |
probably benign |
Het |
Gbp7 |
T |
C |
3: 142,252,189 (GRCm39) |
S591P |
probably benign |
Het |
Gpr155 |
A |
G |
2: 73,192,957 (GRCm39) |
L498P |
probably damaging |
Het |
Igll1 |
T |
C |
16: 16,678,783 (GRCm39) |
T176A |
probably benign |
Het |
Klk1b21 |
A |
G |
7: 43,755,347 (GRCm39) |
E182G |
possibly damaging |
Het |
Npat |
G |
A |
9: 53,473,386 (GRCm39) |
E393K |
probably damaging |
Het |
Pde2a |
A |
G |
7: 101,157,306 (GRCm39) |
Y693C |
probably benign |
Het |
Ralgapa1 |
A |
G |
12: 55,749,237 (GRCm39) |
S1269P |
possibly damaging |
Het |
Rasal2 |
A |
C |
1: 156,985,334 (GRCm39) |
D804E |
probably benign |
Het |
Rdh10 |
A |
G |
1: 16,178,099 (GRCm39) |
N124D |
probably benign |
Het |
Slit3 |
G |
T |
11: 35,512,981 (GRCm39) |
D536Y |
probably damaging |
Het |
Snx24 |
C |
T |
18: 53,517,681 (GRCm39) |
|
probably benign |
Het |
Spink12 |
G |
A |
18: 44,241,177 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Npnt |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01457:Npnt
|
APN |
3 |
132,591,743 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01954:Npnt
|
APN |
3 |
132,615,724 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01999:Npnt
|
APN |
3 |
132,614,160 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02012:Npnt
|
APN |
3 |
132,614,158 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02025:Npnt
|
APN |
3 |
132,596,523 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02637:Npnt
|
APN |
3 |
132,590,271 (GRCm39) |
missense |
possibly damaging |
0.90 |
R0234:Npnt
|
UTSW |
3 |
132,620,175 (GRCm39) |
missense |
possibly damaging |
0.82 |
R0234:Npnt
|
UTSW |
3 |
132,620,175 (GRCm39) |
missense |
possibly damaging |
0.82 |
R1680:Npnt
|
UTSW |
3 |
132,612,563 (GRCm39) |
missense |
probably benign |
0.00 |
R1729:Npnt
|
UTSW |
3 |
132,620,158 (GRCm39) |
nonsense |
probably null |
|
R1773:Npnt
|
UTSW |
3 |
132,610,454 (GRCm39) |
missense |
possibly damaging |
0.62 |
R1980:Npnt
|
UTSW |
3 |
132,653,893 (GRCm39) |
missense |
probably benign |
0.04 |
R1982:Npnt
|
UTSW |
3 |
132,653,893 (GRCm39) |
missense |
probably benign |
0.04 |
R2338:Npnt
|
UTSW |
3 |
132,597,170 (GRCm39) |
missense |
probably damaging |
1.00 |
R3800:Npnt
|
UTSW |
3 |
132,612,524 (GRCm39) |
missense |
probably damaging |
1.00 |
R4739:Npnt
|
UTSW |
3 |
132,610,452 (GRCm39) |
missense |
possibly damaging |
0.93 |
R4790:Npnt
|
UTSW |
3 |
132,596,523 (GRCm39) |
critical splice donor site |
probably benign |
|
R5008:Npnt
|
UTSW |
3 |
132,612,218 (GRCm39) |
missense |
probably damaging |
1.00 |
R5446:Npnt
|
UTSW |
3 |
132,614,130 (GRCm39) |
missense |
probably damaging |
1.00 |
R5471:Npnt
|
UTSW |
3 |
132,620,148 (GRCm39) |
missense |
probably benign |
0.05 |
R5538:Npnt
|
UTSW |
3 |
132,610,724 (GRCm39) |
missense |
probably damaging |
1.00 |
R5673:Npnt
|
UTSW |
3 |
132,623,258 (GRCm39) |
missense |
probably damaging |
0.97 |
R5683:Npnt
|
UTSW |
3 |
132,612,601 (GRCm39) |
splice site |
probably null |
|
R5827:Npnt
|
UTSW |
3 |
132,612,536 (GRCm39) |
missense |
possibly damaging |
0.89 |
R5857:Npnt
|
UTSW |
3 |
132,614,110 (GRCm39) |
missense |
probably damaging |
1.00 |
R5910:Npnt
|
UTSW |
3 |
132,612,179 (GRCm39) |
missense |
probably damaging |
1.00 |
R6208:Npnt
|
UTSW |
3 |
132,655,774 (GRCm39) |
unclassified |
probably benign |
|
R6358:Npnt
|
UTSW |
3 |
132,610,479 (GRCm39) |
missense |
probably benign |
0.18 |
R6875:Npnt
|
UTSW |
3 |
132,615,671 (GRCm39) |
missense |
probably damaging |
1.00 |
R7025:Npnt
|
UTSW |
3 |
132,614,157 (GRCm39) |
missense |
probably damaging |
1.00 |
R7145:Npnt
|
UTSW |
3 |
132,615,692 (GRCm39) |
missense |
probably benign |
0.01 |
R7166:Npnt
|
UTSW |
3 |
132,653,889 (GRCm39) |
missense |
probably damaging |
1.00 |
R7287:Npnt
|
UTSW |
3 |
132,612,563 (GRCm39) |
missense |
probably benign |
0.00 |
R7344:Npnt
|
UTSW |
3 |
132,614,100 (GRCm39) |
splice site |
probably null |
|
R8344:Npnt
|
UTSW |
3 |
132,614,217 (GRCm39) |
missense |
probably damaging |
1.00 |
R8717:Npnt
|
UTSW |
3 |
132,614,136 (GRCm39) |
missense |
probably damaging |
1.00 |
R8873:Npnt
|
UTSW |
3 |
132,655,816 (GRCm39) |
start gained |
probably benign |
|
R8903:Npnt
|
UTSW |
3 |
132,591,764 (GRCm39) |
missense |
probably damaging |
1.00 |
R9414:Npnt
|
UTSW |
3 |
132,612,116 (GRCm39) |
missense |
probably benign |
0.00 |
R9420:Npnt
|
UTSW |
3 |
132,653,866 (GRCm39) |
nonsense |
probably null |
|
|
Posted On |
2012-12-06 |