Incidental Mutation 'IGL01122:Nepn'
| ID |
52126 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nepn
|
| Ensembl Gene |
ENSMUSG00000038624 |
| Gene Name |
nephrocan |
| Synonyms |
periolin, Npn, 5730521E12Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01122
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
52265068-52280721 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 52267911 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 59
(I59N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000070130
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067085]
[ENSMUST00000219730]
|
| AlphaFold |
Q9CQ76 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000067085
AA Change: I59N
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000070130
Gene: ENSMUSG00000038624
AA Change: I59N
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
LRRNT
|
20 |
51 |
1.11e1 |
SMART |
|
LRR
|
94 |
117 |
7.79e0 |
SMART |
|
LRR
|
139 |
162 |
2.67e-1 |
SMART |
|
LRR
|
163 |
183 |
3.27e2 |
SMART |
|
LRR
|
185 |
208 |
5.72e-1 |
SMART |
|
LRR
|
209 |
232 |
5.88e0 |
SMART |
|
LRR
|
254 |
275 |
2.47e1 |
SMART |
|
LRR_TYP
|
276 |
299 |
4.4e-2 |
SMART |
|
LRR
|
321 |
344 |
2.84e1 |
SMART |
|
low complexity region
|
346 |
360 |
N/A |
INTRINSIC |
|
LRR_TYP
|
390 |
413 |
6.23e-2 |
SMART |
|
Blast:LRRCT
|
425 |
474 |
3e-28 |
BLAST |
|
low complexity region
|
480 |
497 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219730
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap6 |
A |
T |
X: 168,029,666 (GRCm39) |
K142N |
possibly damaging |
Het |
| Atp13a1 |
T |
A |
8: 70,251,555 (GRCm39) |
L540Q |
probably damaging |
Het |
| Cacna1a |
T |
C |
8: 85,341,422 (GRCm39) |
|
probably null |
Het |
| Cops6 |
A |
G |
5: 138,160,635 (GRCm39) |
K129E |
probably benign |
Het |
| Cracd |
T |
C |
5: 77,018,522 (GRCm39) |
*1289Q |
probably null |
Het |
| Cyp11a1 |
T |
C |
9: 57,923,589 (GRCm39) |
I98T |
probably damaging |
Het |
| Cyp2c65 |
A |
G |
19: 39,060,621 (GRCm39) |
|
probably null |
Het |
| Dapl1 |
A |
T |
2: 59,324,839 (GRCm39) |
K30I |
probably damaging |
Het |
| Dlg2 |
A |
G |
7: 92,091,816 (GRCm39) |
M894V |
possibly damaging |
Het |
| Eme2 |
C |
T |
17: 25,112,320 (GRCm39) |
A202T |
possibly damaging |
Het |
| Fbxw22 |
A |
T |
9: 109,215,739 (GRCm39) |
S170T |
probably damaging |
Het |
| Havcr2 |
A |
G |
11: 46,347,254 (GRCm39) |
Y77C |
probably damaging |
Het |
| Ivd |
T |
A |
2: 118,707,361 (GRCm39) |
|
probably benign |
Het |
| Map3k9 |
T |
C |
12: 81,778,900 (GRCm39) |
D471G |
possibly damaging |
Het |
| Med12 |
T |
C |
X: 100,325,149 (GRCm39) |
|
probably benign |
Het |
| Megf6 |
C |
T |
4: 154,338,264 (GRCm39) |
R445W |
probably damaging |
Het |
| Mptx1 |
A |
G |
1: 174,159,964 (GRCm39) |
Y90C |
probably damaging |
Het |
| Nek1 |
G |
A |
8: 61,574,000 (GRCm39) |
V1083I |
possibly damaging |
Het |
| Or4a72 |
A |
G |
2: 89,405,767 (GRCm39) |
I101T |
possibly damaging |
Het |
| Pbdc1 |
T |
C |
X: 104,126,297 (GRCm39) |
|
probably benign |
Het |
| Phlpp1 |
G |
T |
1: 106,101,166 (GRCm39) |
R478L |
possibly damaging |
Het |
| Ppp2r3c |
C |
T |
12: 55,344,587 (GRCm39) |
G127D |
probably benign |
Het |
| Ppp2r3d |
A |
G |
9: 101,088,844 (GRCm39) |
L493P |
probably benign |
Het |
| Pramel24 |
A |
G |
4: 143,454,971 (GRCm39) |
D423G |
probably benign |
Het |
| Psap |
T |
C |
10: 60,135,253 (GRCm39) |
V303A |
probably benign |
Het |
| Rdh13 |
T |
C |
7: 4,445,694 (GRCm39) |
K60R |
probably benign |
Het |
| Scaf4 |
A |
G |
16: 90,045,518 (GRCm39) |
S528P |
unknown |
Het |
| Sfmbt1 |
A |
G |
14: 30,532,268 (GRCm39) |
I543V |
probably damaging |
Het |
| Speg |
T |
C |
1: 75,386,679 (GRCm39) |
L1271P |
probably damaging |
Het |
| Stard9 |
C |
A |
2: 120,528,960 (GRCm39) |
T1739K |
possibly damaging |
Het |
| Tas2r134 |
G |
T |
2: 51,517,671 (GRCm39) |
C50F |
probably damaging |
Het |
| Tmprss11b |
G |
T |
5: 86,811,376 (GRCm39) |
T186K |
probably benign |
Het |
| U2surp |
G |
T |
9: 95,372,287 (GRCm39) |
Q291K |
probably benign |
Het |
| Ulk4 |
A |
G |
9: 120,997,358 (GRCm39) |
I738T |
possibly damaging |
Het |
| Urb1 |
A |
T |
16: 90,601,346 (GRCm39) |
S142T |
possibly damaging |
Het |
| Vmn2r112 |
T |
A |
17: 22,821,988 (GRCm39) |
I222N |
probably benign |
Het |
| Zmym4 |
T |
C |
4: 126,758,045 (GRCm39) |
N1503S |
probably damaging |
Het |
|
| Other mutations in Nepn |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01731:Nepn
|
APN |
10 |
52,276,660 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0099:Nepn
|
UTSW |
10 |
52,277,181 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0123:Nepn
|
UTSW |
10 |
52,276,533 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0134:Nepn
|
UTSW |
10 |
52,276,533 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0225:Nepn
|
UTSW |
10 |
52,276,533 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0613:Nepn
|
UTSW |
10 |
52,277,353 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1482:Nepn
|
UTSW |
10 |
52,276,512 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2969:Nepn
|
UTSW |
10 |
52,276,983 (GRCm39) |
nonsense |
probably null |
|
|
R3731:Nepn
|
UTSW |
10 |
52,280,110 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3790:Nepn
|
UTSW |
10 |
52,276,626 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3958:Nepn
|
UTSW |
10 |
52,276,804 (GRCm39) |
missense |
probably benign |
|
|
R4423:Nepn
|
UTSW |
10 |
52,267,911 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5002:Nepn
|
UTSW |
10 |
52,267,850 (GRCm39) |
missense |
probably benign |
|
|
R5294:Nepn
|
UTSW |
10 |
52,276,896 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5580:Nepn
|
UTSW |
10 |
52,280,398 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5607:Nepn
|
UTSW |
10 |
52,277,233 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5986:Nepn
|
UTSW |
10 |
52,280,168 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7135:Nepn
|
UTSW |
10 |
52,267,815 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7256:Nepn
|
UTSW |
10 |
52,277,089 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7713:Nepn
|
UTSW |
10 |
52,277,274 (GRCm39) |
missense |
probably benign |
0.16 |
|
R8213:Nepn
|
UTSW |
10 |
52,267,855 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8432:Nepn
|
UTSW |
10 |
52,267,880 (GRCm39) |
missense |
probably benign |
0.15 |
|
R8463:Nepn
|
UTSW |
10 |
52,276,896 (GRCm39) |
missense |
probably benign |
0.23 |
|
R9315:Nepn
|
UTSW |
10 |
52,267,869 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9684:Nepn
|
UTSW |
10 |
52,276,801 (GRCm39) |
missense |
probably benign |
0.34 |
|
| Posted On |
2013-06-21 |
Incidental Mutation