Incidental Mutation 'IGL03325:Smn1'
| ID |
416615 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Smn1
|
| Ensembl Gene |
ENSMUSG00000021645 |
| Gene Name |
survival motor neuron 1 |
| Synonyms |
SMN |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL03325
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
100261360-100274198 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 100264365 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 32
(Y32C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119381
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022147]
[ENSMUST00000091321]
[ENSMUST00000140745]
[ENSMUST00000143937]
|
| AlphaFold |
P97801 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022147
AA Change: Y106C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000022147
Gene: ENSMUSG00000021645
AA Change: Y106C
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3S6N|M
|
23 |
59 |
3e-18 |
PDB |
|
low complexity region
|
70 |
82 |
N/A |
INTRINSIC |
|
TUDOR
|
87 |
146 |
7.06e-17 |
SMART |
|
low complexity region
|
188 |
246 |
N/A |
INTRINSIC |
|
PDB:4GLI|A
|
247 |
287 |
1e-13 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000091321
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125572
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134514
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140745
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000143937
AA Change: Y32C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000119381
Gene: ENSMUSG00000021645
AA Change: Y32C
| Domain | Start | End | E-Value | Type |
|---|
|
TUDOR
|
13 |
72 |
6.15e-17 |
SMART |
|
low complexity region
|
114 |
158 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147306
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151389
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygotes for targeted null mutations exhibit cell loss and peri-implantation lethality. Muscle-specific KO mice show muscle necrosis leading to paralysis and death. Neuron-specific KO mice show muscle degeneration associated with loss of motor axons. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
G |
A |
11: 109,844,422 (GRCm39) |
R870C |
possibly damaging |
Het |
| Abcf2 |
A |
T |
5: 24,779,210 (GRCm39) |
L113I |
probably damaging |
Het |
| Abi1 |
C |
T |
2: 22,861,240 (GRCm39) |
R106Q |
probably damaging |
Het |
| Arhgef28 |
A |
G |
13: 98,036,324 (GRCm39) |
V1645A |
probably benign |
Het |
| Ccdc198 |
A |
T |
14: 49,481,277 (GRCm39) |
|
probably benign |
Het |
| Ceacam1 |
G |
A |
7: 25,175,912 (GRCm39) |
A94V |
possibly damaging |
Het |
| Fat2 |
G |
A |
11: 55,173,168 (GRCm39) |
T2515I |
probably damaging |
Het |
| Gm5800 |
T |
C |
14: 51,951,983 (GRCm39) |
Y93C |
probably benign |
Het |
| Gnl1 |
A |
G |
17: 36,299,548 (GRCm39) |
D573G |
probably damaging |
Het |
| Gosr1 |
A |
G |
11: 76,645,229 (GRCm39) |
M105T |
probably benign |
Het |
| Gramd1c |
A |
T |
16: 43,825,868 (GRCm39) |
Y303N |
probably benign |
Het |
| Heatr9 |
A |
G |
11: 83,404,085 (GRCm39) |
|
probably null |
Het |
| Iigp1c |
T |
A |
18: 60,378,883 (GRCm39) |
Y139* |
probably null |
Het |
| Itih2 |
T |
C |
2: 10,111,546 (GRCm39) |
D464G |
probably damaging |
Het |
| Jcad |
T |
C |
18: 4,673,902 (GRCm39) |
Y555H |
probably benign |
Het |
| Krtap19-3 |
A |
T |
16: 88,674,609 (GRCm39) |
*88R |
probably null |
Het |
| Mrps11 |
T |
C |
7: 78,440,453 (GRCm39) |
F114S |
probably damaging |
Het |
| Nat8 |
A |
T |
6: 85,807,875 (GRCm39) |
V86E |
possibly damaging |
Het |
| Nek5 |
T |
C |
8: 22,569,158 (GRCm39) |
T555A |
probably benign |
Het |
| Or6c3 |
A |
T |
10: 129,309,474 (GRCm39) |
K304N |
probably benign |
Het |
| Pprc1 |
C |
T |
19: 46,049,948 (GRCm39) |
T10I |
possibly damaging |
Het |
| Prss16 |
A |
G |
13: 22,187,417 (GRCm39) |
V409A |
possibly damaging |
Het |
| Sema3d |
T |
A |
5: 12,513,189 (GRCm39) |
L53Q |
probably damaging |
Het |
| Sfmbt2 |
T |
C |
2: 10,582,628 (GRCm39) |
Y696H |
probably damaging |
Het |
| Sh2d3c |
C |
T |
2: 32,615,270 (GRCm39) |
A120V |
probably benign |
Het |
| Sun2 |
C |
T |
15: 79,622,849 (GRCm39) |
R110Q |
probably benign |
Het |
| Tcp11l2 |
T |
G |
10: 84,440,764 (GRCm39) |
D323E |
possibly damaging |
Het |
| Tex55 |
A |
T |
16: 38,648,355 (GRCm39) |
S251R |
probably damaging |
Het |
| Tnni3k |
A |
T |
3: 154,667,451 (GRCm39) |
S296R |
probably damaging |
Het |
| Uck1 |
G |
A |
2: 32,148,334 (GRCm39) |
R161C |
probably benign |
Het |
| Unc79 |
T |
A |
12: 103,135,869 (GRCm39) |
S2435T |
probably damaging |
Het |
| Vmn2r114 |
C |
A |
17: 23,510,652 (GRCm39) |
K609N |
probably damaging |
Het |
|
| Other mutations in Smn1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02377:Smn1
|
APN |
13 |
100,272,192 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02932:Smn1
|
APN |
13 |
100,264,472 (GRCm39) |
missense |
probably benign |
0.40 |
|
R0907:Smn1
|
UTSW |
13 |
100,264,404 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1573:Smn1
|
UTSW |
13 |
100,263,118 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1629:Smn1
|
UTSW |
13 |
100,264,404 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4898:Smn1
|
UTSW |
13 |
100,268,931 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5082:Smn1
|
UTSW |
13 |
100,273,890 (GRCm39) |
splice site |
probably benign |
|
|
R5902:Smn1
|
UTSW |
13 |
100,263,412 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6276:Smn1
|
UTSW |
13 |
100,264,503 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R6481:Smn1
|
UTSW |
13 |
100,265,008 (GRCm39) |
splice site |
probably null |
|
|
R6758:Smn1
|
UTSW |
13 |
100,268,946 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7114:Smn1
|
UTSW |
13 |
100,267,648 (GRCm39) |
missense |
probably benign |
|
|
R7378:Smn1
|
UTSW |
13 |
100,264,373 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8178:Smn1
|
UTSW |
13 |
100,267,303 (GRCm39) |
splice site |
probably null |
|
|
R9710:Smn1
|
UTSW |
13 |
100,272,210 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
Z1177:Smn1
|
UTSW |
13 |
100,263,125 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation