Incidental Mutation 'R0907:Smn1'
| ID |
83369 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Smn1
|
| Ensembl Gene |
ENSMUSG00000021645 |
| Gene Name |
survival motor neuron 1 |
| Synonyms |
SMN |
| MMRRC Submission |
039065-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0907 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
100261360-100274198 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 100264404 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 45
(T45I)
|
| 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: T119I
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000022147
Gene: ENSMUSG00000021645
AA Change: T119I
| 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: T45I
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000119381
Gene: ENSMUSG00000021645
AA Change: T45I
| 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
|
| Meta Mutation Damage Score |
0.6851 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
100% (34/34) |
| 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 |
|---|
| Abl2 |
G |
A |
1: 156,457,429 (GRCm39) |
V225M |
probably damaging |
Het |
| Afmid |
T |
A |
11: 117,726,416 (GRCm39) |
|
probably benign |
Het |
| Ccdc191 |
G |
A |
16: 43,735,901 (GRCm39) |
V216I |
probably benign |
Het |
| Cep112 |
C |
A |
11: 108,461,258 (GRCm39) |
|
probably benign |
Het |
| Dcbld1 |
T |
C |
10: 52,137,910 (GRCm39) |
V58A |
possibly damaging |
Het |
| Dop1b |
A |
T |
16: 93,598,481 (GRCm39) |
H1882L |
probably damaging |
Het |
| Fat1 |
A |
G |
8: 45,479,635 (GRCm39) |
I2894V |
probably benign |
Het |
| Focad |
T |
C |
4: 88,196,498 (GRCm39) |
|
probably null |
Het |
| Gm45713 |
G |
A |
7: 44,781,788 (GRCm39) |
T203M |
possibly damaging |
Het |
| Gstm1 |
T |
C |
3: 107,924,696 (GRCm39) |
Y28C |
probably damaging |
Het |
| Gucy1a1 |
T |
C |
3: 82,018,498 (GRCm39) |
D113G |
probably benign |
Het |
| Hat1 |
G |
T |
2: 71,250,961 (GRCm39) |
E170* |
probably null |
Het |
| Herc1 |
C |
A |
9: 66,340,710 (GRCm39) |
F1686L |
possibly damaging |
Het |
| Iffo1 |
A |
G |
6: 125,130,124 (GRCm39) |
E270G |
probably null |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Lrp3 |
A |
T |
7: 34,902,718 (GRCm39) |
Y522N |
probably damaging |
Het |
| Lrp6 |
A |
T |
6: 134,484,488 (GRCm39) |
D378E |
probably damaging |
Het |
| Mmrn1 |
A |
G |
6: 60,950,103 (GRCm39) |
N351S |
probably benign |
Het |
| Or1e16 |
A |
T |
11: 73,285,945 (GRCm39) |
L301Q |
probably damaging |
Het |
| Or9q1 |
T |
C |
19: 13,805,220 (GRCm39) |
D180G |
probably damaging |
Het |
| Pcnx3 |
T |
C |
19: 5,721,553 (GRCm39) |
K1082E |
possibly damaging |
Het |
| Pikfyve |
T |
C |
1: 65,241,989 (GRCm39) |
V243A |
possibly damaging |
Het |
| Qdpr |
G |
C |
5: 45,596,728 (GRCm39) |
I145M |
probably benign |
Het |
| Rasgrp3 |
G |
T |
17: 75,816,822 (GRCm39) |
|
probably null |
Het |
| Rd3l |
G |
T |
12: 111,946,574 (GRCm39) |
Y1* |
probably null |
Het |
| Sf3b3 |
A |
G |
8: 111,538,142 (GRCm39) |
|
probably benign |
Het |
| Sprr3 |
A |
T |
3: 92,364,316 (GRCm39) |
I176N |
probably benign |
Het |
| Sv2c |
T |
C |
13: 96,224,763 (GRCm39) |
D182G |
probably damaging |
Het |
| Tnni3k |
A |
T |
3: 154,647,316 (GRCm39) |
V397D |
probably damaging |
Het |
| Trpt1 |
G |
T |
19: 6,976,308 (GRCm39) |
G235V |
possibly damaging |
Het |
| Ttll10 |
A |
T |
4: 156,120,621 (GRCm39) |
C367* |
probably null |
Het |
| Unc5c |
A |
G |
3: 141,494,794 (GRCm39) |
Q369R |
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 |
|
IGL03325:Smn1
|
APN |
13 |
100,264,365 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAGCCATTCATCAGGCCGGGAAAAG -3'
(R):5'- CTTCGTGCGTCAACGTGACAAC -3'
Sequencing Primer
(F):5'- GACTGGAATTACACTTGGAGAACTG -3'
(R):5'- CGTCAACGTGACAACTGATTC -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation