Incidental Mutation 'IGL01457:Npnt'
| ID |
84840 |
| 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: 0.162)
|
| Stock # |
IGL01457
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
132587506-132656052 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 132591743 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 430
(K430R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113752
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042729]
[ENSMUST00000042744]
[ENSMUST00000093971]
[ENSMUST00000117164]
[ENSMUST00000117456]
[ENSMUST00000117811]
|
| AlphaFold |
Q91V88 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000042729
AA Change: K476R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000040071
Gene: ENSMUSG00000040998
AA Change: K476R
| 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 damaging
Transcript: ENSMUST00000042744
AA Change: K459R
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000040684
Gene: ENSMUSG00000040998
AA Change: K459R
| 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 damaging
Transcript: ENSMUST00000093971
AA Change: K507R
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000091505
Gene: ENSMUSG00000040998
AA Change: K507R
| 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 damaging
Transcript: ENSMUST00000117164
AA Change: K490R
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000113419
Gene: ENSMUSG00000040998
AA Change: K490R
| 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 damaging
Transcript: ENSMUST00000117456
AA Change: K355R
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000112816
Gene: ENSMUSG00000040998
AA Change: K355R
| 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 damaging
Transcript: ENSMUST00000117811
AA Change: K430R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113752
Gene: ENSMUSG00000040998
AA Change: K430R
| 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 |
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
T |
A |
14: 32,382,908 (GRCm39) |
Y1019F |
probably benign |
Het |
| 4930455H04Rik |
T |
G |
3: 116,762,200 (GRCm39) |
|
probably benign |
Het |
| 9830107B12Rik |
A |
T |
17: 48,439,193 (GRCm39) |
|
probably benign |
Het |
| Abcc8 |
A |
G |
7: 45,784,917 (GRCm39) |
V737A |
possibly damaging |
Het |
| Adamts20 |
T |
A |
15: 94,229,329 (GRCm39) |
Y930F |
probably damaging |
Het |
| Alkbh8 |
T |
A |
9: 3,369,825 (GRCm39) |
F365I |
probably damaging |
Het |
| App |
G |
A |
16: 84,900,127 (GRCm39) |
H108Y |
probably damaging |
Het |
| Bfsp1 |
T |
C |
2: 143,669,564 (GRCm39) |
|
probably benign |
Het |
| Bltp3b |
T |
C |
10: 89,641,624 (GRCm39) |
S932P |
probably benign |
Het |
| Cabin1 |
T |
C |
10: 75,578,263 (GRCm39) |
N478S |
probably damaging |
Het |
| Camsap3 |
G |
A |
8: 3,654,795 (GRCm39) |
V796I |
probably damaging |
Het |
| Carns1 |
A |
T |
19: 4,216,498 (GRCm39) |
|
probably null |
Het |
| Ccdc121 |
A |
T |
5: 31,644,771 (GRCm39) |
I175L |
probably benign |
Het |
| Clca3a1 |
C |
T |
3: 144,713,539 (GRCm39) |
M697I |
probably benign |
Het |
| Cltc |
C |
T |
11: 86,593,074 (GRCm39) |
M1600I |
probably benign |
Het |
| Cnot1 |
T |
A |
8: 96,467,637 (GRCm39) |
N1499Y |
probably damaging |
Het |
| Crebbp |
T |
A |
16: 3,942,632 (GRCm39) |
I196L |
probably damaging |
Het |
| Drc3 |
C |
A |
11: 60,249,475 (GRCm39) |
|
probably benign |
Het |
| Fam161a |
T |
A |
11: 22,970,702 (GRCm39) |
Y234* |
probably null |
Het |
| Il1r1 |
C |
A |
1: 40,352,330 (GRCm39) |
P500Q |
probably damaging |
Het |
| Katnal1 |
G |
T |
5: 148,830,607 (GRCm39) |
|
probably benign |
Het |
| Klhdc2 |
A |
G |
12: 69,343,827 (GRCm39) |
N20S |
probably benign |
Het |
| Kmt2e |
A |
T |
5: 23,707,017 (GRCm39) |
T1527S |
possibly damaging |
Het |
| Magi1 |
C |
T |
6: 93,724,205 (GRCm39) |
G270D |
probably damaging |
Het |
| Mdn1 |
T |
A |
4: 32,715,922 (GRCm39) |
S2035T |
possibly damaging |
Het |
| Mki67 |
A |
T |
7: 135,301,275 (GRCm39) |
M1253K |
probably benign |
Het |
| Myh7 |
T |
C |
14: 55,226,336 (GRCm39) |
M435V |
possibly damaging |
Het |
| Myh8 |
A |
G |
11: 67,183,505 (GRCm39) |
I739V |
probably benign |
Het |
| Nrdc |
A |
G |
4: 108,904,857 (GRCm39) |
N696S |
probably benign |
Het |
| Oit3 |
T |
C |
10: 59,261,306 (GRCm39) |
|
probably benign |
Het |
| Or51a10 |
A |
G |
7: 103,699,376 (GRCm39) |
Y62H |
probably damaging |
Het |
| Or51s1 |
A |
G |
7: 102,558,926 (GRCm39) |
I40T |
possibly damaging |
Het |
| Or5bw2 |
A |
G |
7: 6,573,211 (GRCm39) |
T74A |
probably benign |
Het |
| Or5p6 |
A |
T |
7: 107,631,328 (GRCm39) |
I74K |
possibly damaging |
Het |
| Pkd1 |
G |
A |
17: 24,813,795 (GRCm39) |
|
probably null |
Het |
| Plat |
A |
G |
8: 23,266,844 (GRCm39) |
M279V |
probably benign |
Het |
| Prkd1 |
A |
T |
12: 50,439,693 (GRCm39) |
L378* |
probably null |
Het |
| Rasgef1a |
C |
T |
6: 118,061,506 (GRCm39) |
T157I |
probably benign |
Het |
| Rbm22 |
A |
G |
18: 60,693,929 (GRCm39) |
N11S |
probably damaging |
Het |
| Ros1 |
T |
C |
10: 51,922,426 (GRCm39) |
|
probably benign |
Het |
| Sema6d |
T |
A |
2: 124,495,562 (GRCm39) |
F3Y |
unknown |
Het |
| Sis |
T |
C |
3: 72,868,354 (GRCm39) |
D112G |
probably benign |
Het |
| Slit1 |
C |
A |
19: 41,599,483 (GRCm39) |
G1023C |
probably damaging |
Het |
| Spata31h1 |
C |
A |
10: 82,120,568 (GRCm39) |
K4147N |
probably damaging |
Het |
| Sptb |
T |
C |
12: 76,659,329 (GRCm39) |
|
probably benign |
Het |
| Sspo |
T |
C |
6: 48,475,277 (GRCm39) |
I4881T |
probably benign |
Het |
| Supt6 |
C |
A |
11: 78,111,969 (GRCm39) |
D1038Y |
probably damaging |
Het |
| Tbc1d2b |
A |
T |
9: 90,087,144 (GRCm39) |
L945Q |
probably damaging |
Het |
| Tgfbr3 |
G |
T |
5: 107,297,764 (GRCm39) |
A212E |
probably damaging |
Het |
| Tipin |
A |
G |
9: 64,211,690 (GRCm39) |
T259A |
probably benign |
Het |
| Traip |
T |
C |
9: 107,847,671 (GRCm39) |
S365P |
probably benign |
Het |
| Tst |
T |
C |
15: 78,283,967 (GRCm39) |
T287A |
probably benign |
Het |
| Tube1 |
C |
T |
10: 39,021,718 (GRCm39) |
|
probably benign |
Het |
| Vmn1r37 |
T |
A |
6: 66,708,393 (GRCm39) |
N6K |
probably damaging |
Het |
| Vmn2r111 |
C |
A |
17: 22,790,966 (GRCm39) |
E111* |
probably null |
Het |
| Vmn2r17 |
C |
T |
5: 109,600,898 (GRCm39) |
T732I |
probably benign |
Het |
| Vmn2r69 |
A |
T |
7: 85,055,836 (GRCm39) |
D767E |
possibly 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 |
|
|
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 |
2013-11-11 |
Incidental Mutation