Incidental Mutation 'IGL01635:Negr1'
| ID |
92971 |
| 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 # |
IGL01635
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
156267431-157022082 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 156267929 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 33
(D33G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101680
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041425]
[ENSMUST00000074015]
[ENSMUST00000106065]
[ENSMUST00000175773]
|
| AlphaFold |
Q80Z24 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041425
AA Change: D33G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000041132
Gene: ENSMUSG00000040037
AA Change: D33G
| 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 benign
Transcript: ENSMUST00000074015
AA Change: D33G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000073664
Gene: ENSMUSG00000040037
AA Change: D33G
| 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 benign
Transcript: ENSMUST00000106065
AA Change: D33G
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000101680
Gene: ENSMUSG00000040037
AA Change: D33G
| 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 |
noncoding transcript
Transcript: ENSMUST00000139363
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140941
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148224
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149387
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000175773
AA Change: D33G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000135531
Gene: ENSMUSG00000040037
AA Change: D33G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
26 |
N/A |
INTRINSIC |
|
IG
|
39 |
101 |
6.97e-3 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197246
|
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abat |
A |
G |
16: 8,431,910 (GRCm39) |
I396V |
probably benign |
Het |
| Bag2 |
T |
A |
1: 33,786,013 (GRCm39) |
N103I |
possibly damaging |
Het |
| Cfap95 |
T |
C |
19: 23,536,379 (GRCm39) |
Y176C |
probably damaging |
Het |
| Chd1 |
T |
C |
17: 17,598,858 (GRCm39) |
S107P |
probably damaging |
Het |
| Chd3 |
A |
T |
11: 69,252,076 (GRCm39) |
|
probably benign |
Het |
| Cytip |
T |
C |
2: 58,038,243 (GRCm39) |
E106G |
probably damaging |
Het |
| Dcp1b |
T |
A |
6: 119,183,498 (GRCm39) |
I195N |
probably damaging |
Het |
| Ddhd1 |
C |
A |
14: 45,867,037 (GRCm39) |
V322F |
probably null |
Het |
| Esrrg |
A |
T |
1: 187,930,797 (GRCm39) |
D296V |
probably damaging |
Het |
| F5 |
A |
G |
1: 164,035,427 (GRCm39) |
K1867R |
probably benign |
Het |
| Gm10717 |
C |
A |
9: 3,025,511 (GRCm39) |
A32D |
probably damaging |
Het |
| Gm10717 |
C |
A |
9: 3,025,506 (GRCm39) |
F30L |
possibly damaging |
Het |
| Gstt1 |
G |
T |
10: 75,629,951 (GRCm39) |
T54K |
probably damaging |
Het |
| Ighmbp2 |
C |
T |
19: 3,317,265 (GRCm39) |
V536I |
possibly damaging |
Het |
| Mphosph8 |
A |
T |
14: 56,910,003 (GRCm39) |
R119W |
probably damaging |
Het |
| Or2l13b |
A |
G |
16: 19,348,845 (GRCm39) |
V275A |
probably benign |
Het |
| Or7d10 |
A |
T |
9: 19,831,780 (GRCm39) |
I92L |
probably damaging |
Het |
| Plbd2 |
T |
C |
5: 120,637,114 (GRCm39) |
D116G |
probably damaging |
Het |
| Pold1 |
A |
T |
7: 44,185,401 (GRCm39) |
V733E |
probably damaging |
Het |
| Prorsd1 |
T |
A |
11: 29,463,467 (GRCm39) |
K98N |
probably benign |
Het |
| Rasal2 |
G |
T |
1: 156,991,394 (GRCm39) |
L611I |
probably damaging |
Het |
| Rffl |
G |
A |
11: 82,703,378 (GRCm39) |
R147C |
probably benign |
Het |
| Rpl27rt |
A |
T |
18: 34,870,795 (GRCm39) |
M110L |
probably benign |
Het |
| Sdad1 |
A |
G |
5: 92,445,019 (GRCm39) |
M315T |
probably damaging |
Het |
| Shprh |
T |
A |
10: 11,045,763 (GRCm39) |
Y861* |
probably null |
Het |
| Six4 |
G |
A |
12: 73,155,971 (GRCm39) |
A324V |
probably benign |
Het |
| Stab2 |
T |
C |
10: 86,816,992 (GRCm39) |
D135G |
probably benign |
Het |
| Tada3 |
T |
C |
6: 113,352,973 (GRCm39) |
H12R |
probably benign |
Het |
| Zap70 |
A |
G |
1: 36,810,238 (GRCm39) |
D116G |
probably damaging |
Het |
|
| Other mutations in Negr1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01284:Negr1
|
APN |
3 |
156,851,854 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2013-12-09 |
Incidental Mutation