Incidental Mutation 'R3830:Ntn1'
| ID |
273959 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ntn1
|
| Ensembl Gene |
ENSMUSG00000020902 |
| Gene Name |
netrin 1 |
| Synonyms |
Netrin-1 |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.673)
|
| Stock # |
R3830 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
68100190-68277652 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to G
at 68276619 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Histidine
at position 110
(D110H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121193
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021284]
[ENSMUST00000108674]
[ENSMUST00000135141]
|
| AlphaFold |
O09118 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021284
AA Change: D110H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000021284
Gene: ENSMUSG00000020902
AA Change: D110H
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
LamNT
|
45 |
283 |
7.14e-148 |
SMART |
|
EGF_Lam
|
285 |
338 |
2.44e-9 |
SMART |
|
EGF_Lam
|
341 |
401 |
3.01e-9 |
SMART |
|
EGF_Lam
|
404 |
451 |
8.43e-13 |
SMART |
|
C345C
|
487 |
595 |
1.67e-37 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108674
AA Change: D110H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000104314
Gene: ENSMUSG00000020902
AA Change: D110H
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
LamNT
|
45 |
283 |
7.14e-148 |
SMART |
|
EGF_Lam
|
285 |
338 |
2.44e-9 |
SMART |
|
EGF_Lam
|
341 |
401 |
3.01e-9 |
SMART |
|
EGF_Lam
|
404 |
451 |
8.43e-13 |
SMART |
|
C345C
|
487 |
595 |
1.67e-37 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000135141
AA Change: D110H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000121193
Gene: ENSMUSG00000020902
AA Change: D110H
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
LamNT
|
45 |
159 |
6.8e-15 |
SMART |
|
| Meta Mutation Damage Score |
0.9089 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.7%
- 20x: 96.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Netrin is included in a family of laminin-related secreted proteins. The function of this gene has not yet been defined; however, netrin is thought to be involved in axon guidance and cell migration during development. Mutations and loss of expression of netrin suggest that variation in netrin may be involved in cancer development. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted mutations exhibit impaired axonal migration, abnormal semicircular canals, lack of corpus callosum, aberrant commissures, hypoplasia of the optic nerve, motor and balance defects, failure to suckle, and neonatal death. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agpat5 |
A |
G |
8: 18,929,621 (GRCm39) |
E250G |
probably benign |
Het |
| Aox4 |
A |
T |
1: 58,294,670 (GRCm39) |
T960S |
probably damaging |
Het |
| Bach2 |
T |
A |
4: 32,563,150 (GRCm39) |
L539H |
probably damaging |
Het |
| Capn1 |
A |
T |
19: 6,044,877 (GRCm39) |
L465Q |
probably damaging |
Het |
| Cd300c |
A |
G |
11: 114,850,453 (GRCm39) |
F117L |
probably benign |
Het |
| Cep104 |
T |
G |
4: 154,069,400 (GRCm39) |
M207R |
probably damaging |
Het |
| Chd2 |
A |
G |
7: 73,141,163 (GRCm39) |
Y577H |
possibly damaging |
Het |
| Col4a1 |
C |
A |
8: 11,259,650 (GRCm39) |
G1341V |
probably damaging |
Het |
| Cplane2 |
C |
T |
4: 140,945,900 (GRCm39) |
R148C |
probably damaging |
Het |
| Cspg4 |
T |
G |
9: 56,804,905 (GRCm39) |
D1905E |
probably damaging |
Het |
| Dhx37 |
T |
C |
5: 125,508,677 (GRCm39) |
K86R |
probably benign |
Het |
| Drd2 |
T |
A |
9: 49,313,443 (GRCm39) |
V204D |
probably damaging |
Het |
| Gclc |
A |
T |
9: 77,699,242 (GRCm39) |
I520L |
probably benign |
Het |
| Gpat3 |
A |
G |
5: 101,032,252 (GRCm39) |
D183G |
probably benign |
Het |
| Gpat4 |
G |
A |
8: 23,670,171 (GRCm39) |
P286L |
probably damaging |
Het |
| Gprin3 |
T |
C |
6: 59,330,618 (GRCm39) |
E563G |
probably benign |
Het |
| Grm8 |
A |
T |
6: 27,761,228 (GRCm39) |
L332* |
probably null |
Het |
| Grpel1 |
T |
A |
5: 36,626,827 (GRCm39) |
N36K |
probably benign |
Het |
| Hecw1 |
C |
T |
13: 14,520,643 (GRCm39) |
S198N |
probably benign |
Het |
| Kcna2 |
T |
C |
3: 107,012,112 (GRCm39) |
I231T |
probably benign |
Het |
| Lpcat1 |
T |
C |
13: 73,637,212 (GRCm39) |
I114T |
possibly damaging |
Het |
| Mast4 |
G |
T |
13: 102,875,319 (GRCm39) |
H1350N |
probably damaging |
Het |
| Ncor2 |
T |
C |
5: 125,195,756 (GRCm39) |
|
probably benign |
Het |
| Or2b11 |
G |
T |
11: 59,462,427 (GRCm39) |
N46K |
probably damaging |
Het |
| Pigb |
T |
C |
9: 72,924,755 (GRCm39) |
N468S |
probably benign |
Het |
| Pik3r2 |
G |
A |
8: 71,223,065 (GRCm39) |
R452C |
probably benign |
Het |
| Plekhg1 |
A |
G |
10: 3,823,400 (GRCm39) |
T123A |
probably damaging |
Het |
| Ptges3l |
T |
C |
11: 101,312,443 (GRCm39) |
*67W |
probably null |
Het |
| Rgs12 |
G |
A |
5: 35,123,359 (GRCm39) |
V381M |
possibly damaging |
Het |
| Rrm2 |
G |
T |
12: 24,758,598 (GRCm39) |
A47S |
probably benign |
Het |
| Six2 |
G |
T |
17: 85,992,615 (GRCm39) |
S296Y |
probably damaging |
Het |
| Slc5a12 |
T |
A |
2: 110,463,081 (GRCm39) |
C392* |
probably null |
Het |
| Snx5 |
A |
T |
2: 144,096,821 (GRCm39) |
|
probably null |
Het |
| Svep1 |
A |
G |
4: 58,096,177 (GRCm39) |
L1481P |
probably damaging |
Het |
| Tspan18 |
T |
C |
2: 93,050,453 (GRCm39) |
I57V |
probably benign |
Het |
| Ube3b |
C |
A |
5: 114,538,012 (GRCm39) |
Q368K |
probably damaging |
Het |
| Zfhx4 |
A |
T |
3: 5,466,269 (GRCm39) |
K2142N |
probably damaging |
Het |
| Zfp729a |
A |
T |
13: 67,767,997 (GRCm39) |
F744Y |
probably damaging |
Het |
|
| Other mutations in Ntn1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00155:Ntn1
|
APN |
11 |
68,117,445 (GRCm39) |
splice site |
probably benign |
|
|
IGL00972:Ntn1
|
APN |
11 |
68,104,098 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL01695:Ntn1
|
APN |
11 |
68,117,430 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01731:Ntn1
|
APN |
11 |
68,276,244 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02008:Ntn1
|
APN |
11 |
68,104,089 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02584:Ntn1
|
APN |
11 |
68,168,356 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02664:Ntn1
|
APN |
11 |
68,276,295 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0363:Ntn1
|
UTSW |
11 |
68,276,369 (GRCm39) |
missense |
probably benign |
0.44 |
|
R1201:Ntn1
|
UTSW |
11 |
68,104,052 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1268:Ntn1
|
UTSW |
11 |
68,103,959 (GRCm39) |
small deletion |
probably benign |
|
|
R1913:Ntn1
|
UTSW |
11 |
68,104,011 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2245:Ntn1
|
UTSW |
11 |
68,276,120 (GRCm39) |
missense |
probably benign |
0.12 |
|
R2248:Ntn1
|
UTSW |
11 |
68,168,398 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2359:Ntn1
|
UTSW |
11 |
68,276,438 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2862:Ntn1
|
UTSW |
11 |
68,276,690 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3851:Ntn1
|
UTSW |
11 |
68,276,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3852:Ntn1
|
UTSW |
11 |
68,276,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4413:Ntn1
|
UTSW |
11 |
68,276,736 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4870:Ntn1
|
UTSW |
11 |
68,103,852 (GRCm39) |
small deletion |
probably benign |
|
|
R4871:Ntn1
|
UTSW |
11 |
68,103,852 (GRCm39) |
small deletion |
probably benign |
|
|
R4952:Ntn1
|
UTSW |
11 |
68,103,852 (GRCm39) |
small deletion |
probably benign |
|
|
R5001:Ntn1
|
UTSW |
11 |
68,151,358 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5279:Ntn1
|
UTSW |
11 |
68,276,538 (GRCm39) |
missense |
probably benign |
0.37 |
|
R6217:Ntn1
|
UTSW |
11 |
68,104,158 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6505:Ntn1
|
UTSW |
11 |
68,104,025 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6669:Ntn1
|
UTSW |
11 |
68,276,576 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7172:Ntn1
|
UTSW |
11 |
68,276,493 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7411:Ntn1
|
UTSW |
11 |
68,276,915 (GRCm39) |
missense |
probably benign |
0.15 |
|
R8314:Ntn1
|
UTSW |
11 |
68,276,450 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9216:Ntn1
|
UTSW |
11 |
68,117,397 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R9385:Ntn1
|
UTSW |
11 |
68,276,013 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9442:Ntn1
|
UTSW |
11 |
68,148,485 (GRCm39) |
intron |
probably benign |
|
|
R9697:Ntn1
|
UTSW |
11 |
68,168,356 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9752:Ntn1
|
UTSW |
11 |
68,276,712 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
X0027:Ntn1
|
UTSW |
11 |
68,276,462 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCGGTTGTACATTTTGCGGC -3'
(R):5'- ACTTTGTCAACGCGGCCTTC -3'
Sequencing Primer
(F):5'- ACATTTTGCGGCACTGCG -3'
(R):5'- TTCGGCAAGGACGTGCG -3'
|
| Posted On |
2015-04-02 |
Incidental Mutation