Incidental Mutation 'R5683:Npnt'
| ID |
443176 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Npnt
|
| Ensembl Gene |
ENSMUSG00000040998 |
| Gene Name |
nephronectin |
| Synonyms |
POEM, 1110009H02Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.132)
|
| Stock # |
R5683 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
132587506-132656052 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 132612601 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113752
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042729]
[ENSMUST00000042729]
[ENSMUST00000042744]
[ENSMUST00000042744]
[ENSMUST00000093971]
[ENSMUST00000093971]
[ENSMUST00000117164]
[ENSMUST00000117164]
[ENSMUST00000117456]
[ENSMUST00000117456]
[ENSMUST00000117811]
[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: 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: 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: 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: 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: 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 |
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 |
- 1x: 99.6%
- 3x: 98.8%
- 10x: 97.0%
- 20x: 94.0%
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427D14Rik |
A |
C |
11: 72,093,266 (GRCm39) |
M22R |
probably benign |
Het |
| Acad11 |
A |
G |
9: 103,961,482 (GRCm39) |
E397G |
probably damaging |
Het |
| Actrt3 |
A |
T |
3: 30,652,427 (GRCm39) |
D222E |
probably benign |
Het |
| Akap11 |
A |
T |
14: 78,750,018 (GRCm39) |
S790T |
probably damaging |
Het |
| Arhgap5 |
T |
A |
12: 52,566,369 (GRCm39) |
D1113E |
probably benign |
Het |
| Arl2 |
C |
A |
19: 6,184,794 (GRCm39) |
R153L |
probably benign |
Het |
| B3glct |
T |
A |
5: 149,619,902 (GRCm39) |
M19K |
probably benign |
Het |
| Ccdc138 |
C |
A |
10: 58,376,641 (GRCm39) |
Q425K |
probably damaging |
Het |
| Ccdc178 |
T |
A |
18: 22,263,179 (GRCm39) |
K143N |
probably benign |
Het |
| Cd200r4 |
T |
A |
16: 44,653,311 (GRCm39) |
I73K |
probably benign |
Het |
| Chaf1b |
A |
G |
16: 93,684,030 (GRCm39) |
K94E |
possibly damaging |
Het |
| Cmtm2a |
T |
C |
8: 105,019,676 (GRCm39) |
|
probably null |
Het |
| Dnhd1 |
G |
A |
7: 105,352,416 (GRCm39) |
R2523Q |
probably damaging |
Het |
| Fnbp4 |
C |
A |
2: 90,583,206 (GRCm39) |
N277K |
probably damaging |
Het |
| Htr7 |
C |
A |
19: 35,947,271 (GRCm39) |
A248S |
probably damaging |
Het |
| Itsn1 |
T |
C |
16: 91,702,268 (GRCm39) |
Y37H |
probably benign |
Het |
| Kdm8 |
A |
G |
7: 125,054,345 (GRCm39) |
Y16C |
possibly damaging |
Het |
| Kif1b |
A |
T |
4: 149,306,718 (GRCm39) |
Y881N |
probably damaging |
Het |
| Lhcgr |
C |
T |
17: 89,079,447 (GRCm39) |
V80I |
probably benign |
Het |
| Lrriq1 |
T |
A |
10: 103,009,236 (GRCm39) |
L1082F |
probably damaging |
Het |
| Met |
A |
G |
6: 17,571,743 (GRCm39) |
Y1354C |
probably damaging |
Het |
| Nbea |
A |
G |
3: 55,536,007 (GRCm39) |
L2859P |
possibly damaging |
Het |
| Ndufaf5 |
T |
A |
2: 140,044,843 (GRCm39) |
M279K |
possibly damaging |
Het |
| Nlrp4e |
T |
C |
7: 23,052,697 (GRCm39) |
I872T |
probably damaging |
Het |
| Nsd1 |
G |
A |
13: 55,393,961 (GRCm39) |
V521I |
probably benign |
Het |
| Or2n1e |
G |
A |
17: 38,586,437 (GRCm39) |
M258I |
possibly damaging |
Het |
| Pak6 |
T |
A |
2: 118,524,393 (GRCm39) |
Y469N |
probably damaging |
Het |
| Parp4 |
C |
T |
14: 56,884,886 (GRCm39) |
R1322* |
probably null |
Het |
| Pax6 |
T |
C |
2: 105,516,252 (GRCm39) |
Y177H |
probably benign |
Het |
| Pcdhb4 |
A |
T |
18: 37,442,042 (GRCm39) |
T451S |
probably benign |
Het |
| Pcdhgb5 |
A |
T |
18: 37,864,907 (GRCm39) |
D234V |
probably damaging |
Het |
| Pramel11 |
A |
G |
4: 143,622,423 (GRCm39) |
S311P |
probably damaging |
Het |
| Ralb |
G |
A |
1: 119,403,686 (GRCm39) |
A147V |
possibly damaging |
Het |
| Rgs11 |
A |
G |
17: 26,424,155 (GRCm39) |
K196E |
probably benign |
Het |
| Rnft1 |
A |
T |
11: 86,382,616 (GRCm39) |
T280S |
probably benign |
Het |
| Slco4c1 |
G |
T |
1: 96,795,559 (GRCm39) |
H166Q |
probably damaging |
Het |
| Sycp3 |
T |
C |
10: 88,308,797 (GRCm39) |
S248P |
probably damaging |
Het |
| Tab2 |
A |
G |
10: 7,794,876 (GRCm39) |
|
probably null |
Het |
| Tgm6 |
T |
C |
2: 129,980,875 (GRCm39) |
M224T |
probably damaging |
Het |
| Topbp1 |
A |
T |
9: 103,190,003 (GRCm39) |
E193V |
possibly damaging |
Het |
| Trim36 |
T |
C |
18: 46,302,359 (GRCm39) |
Y551C |
probably damaging |
Het |
| Ttc17 |
T |
C |
2: 94,192,866 (GRCm39) |
Y628C |
probably damaging |
Het |
| Vmn1r180 |
A |
C |
7: 23,652,635 (GRCm39) |
D266A |
possibly damaging |
Het |
| Vmn2r104 |
T |
A |
17: 20,260,981 (GRCm39) |
K481* |
probably null |
Het |
| Zc3hav1 |
A |
G |
6: 38,284,172 (GRCm39) |
V981A |
probably damaging |
Het |
|
| Other mutations in Npnt |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00731:Npnt
|
APN |
3 |
132,610,418 (GRCm39) |
critical splice donor site |
probably null |
|
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACAGCTGGAGACTTCTCAACG -3'
(R):5'- AAGTAGATGGTGTCGTATCTACTGC -3'
Sequencing Primer
(F):5'- TGGAGACTTCTCAACGCTACAGG -3'
(R):5'- CTGTTGGTTGTGAGCGCAGAAG -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation