Incidental Mutation 'IGL01284:Negr1'
ID |
72650 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Negr1
|
Ensembl Gene |
ENSMUSG00000040037 |
Gene Name |
neuronal growth regulator 1 |
Synonyms |
neurotractin, Ntra, 5330422G01Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01284
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
156267431-157022082 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 156851854 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Serine
at position 219
(P219S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000073664
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041425]
[ENSMUST00000074015]
[ENSMUST00000106065]
|
AlphaFold |
Q80Z24 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000041425
AA Change: P219S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000041132 Gene: ENSMUSG00000040037 AA Change: P219S
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
31 |
N/A |
INTRINSIC |
IG
|
39 |
130 |
2.52e-9 |
SMART |
IGc2
|
145 |
204 |
3.22e-16 |
SMART |
IGc2
|
230 |
298 |
3.82e-9 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000074015
AA Change: P219S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000073664 Gene: ENSMUSG00000040037 AA Change: P219S
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
31 |
N/A |
INTRINSIC |
IG
|
39 |
130 |
2.52e-9 |
SMART |
IGc2
|
145 |
204 |
3.22e-16 |
SMART |
IGc2
|
230 |
298 |
3.82e-9 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000106065
AA Change: P219S
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000101680 Gene: ENSMUSG00000040037 AA Change: P219S
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
31 |
N/A |
INTRINSIC |
IG
|
39 |
130 |
2.52e-9 |
SMART |
IGc2
|
145 |
204 |
3.22e-16 |
SMART |
IGc2
|
230 |
298 |
3.82e-9 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out or ENU-induced allele exhibit reduced body weight. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aak1 |
A |
T |
6: 86,827,035 (GRCm39) |
M1L |
possibly damaging |
Het |
Agr2 |
A |
G |
12: 36,045,580 (GRCm39) |
D22G |
possibly damaging |
Het |
C9orf72 |
A |
T |
4: 35,218,808 (GRCm39) |
I17N |
probably damaging |
Het |
Cck |
G |
T |
9: 121,319,236 (GRCm39) |
N82K |
probably benign |
Het |
Cdh23 |
A |
T |
10: 60,301,876 (GRCm39) |
I402N |
possibly damaging |
Het |
Cfap157 |
T |
C |
2: 32,671,491 (GRCm39) |
D105G |
possibly damaging |
Het |
Dhx9 |
C |
A |
1: 153,340,644 (GRCm39) |
L665F |
probably damaging |
Het |
Dlg5 |
T |
C |
14: 24,196,265 (GRCm39) |
E1621G |
probably damaging |
Het |
Dst |
A |
G |
1: 34,203,009 (GRCm39) |
Y713C |
probably damaging |
Het |
Fbp2 |
T |
C |
13: 62,988,099 (GRCm39) |
S271G |
probably benign |
Het |
Gp5 |
G |
T |
16: 30,128,028 (GRCm39) |
S215R |
probably benign |
Het |
Kpnb1 |
A |
G |
11: 97,056,928 (GRCm39) |
M647T |
probably damaging |
Het |
Masp2 |
A |
G |
4: 148,698,464 (GRCm39) |
E515G |
probably damaging |
Het |
Mfge8 |
A |
G |
7: 78,786,530 (GRCm39) |
S290P |
probably damaging |
Het |
Nkx2-6 |
T |
C |
14: 69,409,326 (GRCm39) |
S26P |
probably benign |
Het |
Or10a49 |
C |
T |
7: 108,467,482 (GRCm39) |
R293K |
possibly damaging |
Het |
Pdzd9 |
A |
C |
7: 120,259,494 (GRCm39) |
Y165D |
possibly damaging |
Het |
Pik3ca |
C |
T |
3: 32,516,733 (GRCm39) |
A987V |
probably damaging |
Het |
Pomp |
T |
A |
5: 147,797,491 (GRCm39) |
|
probably benign |
Het |
Rbm33 |
A |
G |
5: 28,615,707 (GRCm39) |
T17A |
probably damaging |
Het |
Skic2 |
T |
C |
17: 35,058,664 (GRCm39) |
|
probably benign |
Het |
Slc4a4 |
G |
A |
5: 89,277,532 (GRCm39) |
A334T |
probably benign |
Het |
Tecta |
A |
G |
9: 42,256,916 (GRCm39) |
F1587L |
probably damaging |
Het |
Tex29 |
C |
A |
8: 11,894,231 (GRCm39) |
Y46* |
probably null |
Het |
Tgm5 |
A |
G |
2: 120,883,028 (GRCm39) |
S410P |
possibly damaging |
Het |
Tmtc2 |
A |
G |
10: 105,107,372 (GRCm39) |
Y714H |
possibly damaging |
Het |
Tubgcp6 |
C |
T |
15: 88,994,258 (GRCm39) |
R468Q |
probably damaging |
Het |
|
Other mutations in Negr1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01635:Negr1
|
APN |
3 |
156,267,929 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02006:Negr1
|
APN |
3 |
156,721,810 (GRCm39) |
splice site |
probably benign |
|
IGL02427:Negr1
|
APN |
3 |
156,267,827 (GRCm39) |
start gained |
probably benign |
|
IGL02542:Negr1
|
APN |
3 |
156,267,862 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4466001:Negr1
|
UTSW |
3 |
156,565,235 (GRCm39) |
missense |
probably benign |
0.44 |
R0241:Negr1
|
UTSW |
3 |
156,914,036 (GRCm39) |
intron |
probably benign |
|
R0496:Negr1
|
UTSW |
3 |
156,721,904 (GRCm39) |
missense |
probably damaging |
1.00 |
R0506:Negr1
|
UTSW |
3 |
156,866,385 (GRCm39) |
splice site |
probably benign |
|
R0507:Negr1
|
UTSW |
3 |
156,267,862 (GRCm39) |
missense |
probably damaging |
0.97 |
R0634:Negr1
|
UTSW |
3 |
156,721,903 (GRCm39) |
missense |
possibly damaging |
0.51 |
R1324:Negr1
|
UTSW |
3 |
156,774,860 (GRCm39) |
missense |
probably damaging |
1.00 |
R1923:Negr1
|
UTSW |
3 |
156,267,836 (GRCm39) |
missense |
probably benign |
0.06 |
R4569:Negr1
|
UTSW |
3 |
156,914,013 (GRCm39) |
intron |
probably benign |
|
R4592:Negr1
|
UTSW |
3 |
156,914,023 (GRCm39) |
intron |
probably benign |
|
R4874:Negr1
|
UTSW |
3 |
156,565,082 (GRCm39) |
missense |
probably damaging |
0.98 |
R5137:Negr1
|
UTSW |
3 |
156,721,833 (GRCm39) |
missense |
probably damaging |
0.99 |
R5330:Negr1
|
UTSW |
3 |
156,774,913 (GRCm39) |
nonsense |
probably null |
|
R5331:Negr1
|
UTSW |
3 |
156,774,913 (GRCm39) |
nonsense |
probably null |
|
R5974:Negr1
|
UTSW |
3 |
156,774,923 (GRCm39) |
missense |
probably damaging |
1.00 |
R6560:Negr1
|
UTSW |
3 |
157,018,494 (GRCm39) |
missense |
probably benign |
|
R7506:Negr1
|
UTSW |
3 |
156,774,870 (GRCm39) |
nonsense |
probably null |
|
R7677:Negr1
|
UTSW |
3 |
156,774,823 (GRCm39) |
nonsense |
probably null |
|
R8080:Negr1
|
UTSW |
3 |
156,866,357 (GRCm39) |
missense |
probably damaging |
1.00 |
R8523:Negr1
|
UTSW |
3 |
156,866,297 (GRCm39) |
missense |
probably damaging |
1.00 |
R8950:Negr1
|
UTSW |
3 |
156,721,906 (GRCm39) |
missense |
probably damaging |
1.00 |
R8997:Negr1
|
UTSW |
3 |
156,721,918 (GRCm39) |
missense |
probably damaging |
1.00 |
R9082:Negr1
|
UTSW |
3 |
156,774,876 (GRCm39) |
nonsense |
probably null |
|
R9317:Negr1
|
UTSW |
3 |
156,904,081 (GRCm39) |
missense |
probably benign |
0.00 |
R9691:Negr1
|
UTSW |
3 |
156,267,898 (GRCm39) |
missense |
probably damaging |
0.98 |
R9715:Negr1
|
UTSW |
3 |
156,774,936 (GRCm39) |
critical splice donor site |
probably null |
|
|
Posted On |
2013-10-07 |