Incidental Mutation 'R6758:Smn1'
ID |
531115 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Smn1
|
Ensembl Gene |
ENSMUSG00000021645 |
Gene Name |
survival motor neuron 1 |
Synonyms |
SMN |
MMRRC Submission |
044874-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6758 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
100261360-100274198 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 100268946 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 264
(M264K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022147
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022147]
[ENSMUST00000091321]
[ENSMUST00000140745]
[ENSMUST00000143937]
|
AlphaFold |
P97801 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022147
AA Change: M264K
PolyPhen 2
Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000022147 Gene: ENSMUSG00000021645 AA Change: M264K
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: ENSMUST00000135355
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000140745
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000143937
|
SMART Domains |
Protein: ENSMUSP00000119381 Gene: ENSMUSG00000021645
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 |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.9%
|
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: 21 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankrd17 |
A |
T |
5: 90,411,172 (GRCm39) |
D1374E |
probably damaging |
Het |
Cd96 |
C |
A |
16: 45,938,367 (GRCm39) |
V33L |
possibly damaging |
Het |
Drd1 |
T |
C |
13: 54,207,308 (GRCm39) |
E295G |
probably benign |
Het |
Fzd8 |
T |
A |
18: 9,213,238 (GRCm39) |
C107S |
possibly damaging |
Het |
Gm10801 |
C |
CGTG |
2: 98,494,152 (GRCm39) |
|
probably null |
Het |
Gm11595 |
C |
A |
11: 99,663,366 (GRCm39) |
V105L |
unknown |
Het |
Gm11595 |
A |
T |
11: 99,663,367 (GRCm39) |
C104* |
probably null |
Het |
Igsf3 |
T |
C |
3: 101,332,814 (GRCm39) |
Y31H |
probably damaging |
Het |
Ikzf2 |
A |
T |
1: 69,578,059 (GRCm39) |
H483Q |
probably damaging |
Het |
Itgbl1 |
A |
G |
14: 124,094,901 (GRCm39) |
K309E |
probably benign |
Het |
Myt1l |
T |
G |
12: 29,892,599 (GRCm39) |
Y79D |
possibly damaging |
Het |
Nid2 |
T |
A |
14: 19,852,551 (GRCm39) |
S1086R |
probably damaging |
Het |
Or1o1 |
A |
G |
17: 37,716,586 (GRCm39) |
D49G |
probably damaging |
Het |
Or5h24 |
T |
C |
16: 58,919,328 (GRCm39) |
E9G |
probably damaging |
Het |
Or6c65 |
T |
C |
10: 129,603,920 (GRCm39) |
I185T |
probably damaging |
Het |
Rorc |
A |
G |
3: 94,294,825 (GRCm39) |
N51S |
possibly damaging |
Het |
Sanbr |
T |
C |
11: 23,538,475 (GRCm39) |
|
probably null |
Het |
Simc1 |
C |
T |
13: 54,673,361 (GRCm39) |
P570S |
possibly damaging |
Het |
Tiam2 |
A |
G |
17: 3,568,678 (GRCm39) |
D1608G |
probably benign |
Het |
Tll1 |
C |
A |
8: 64,494,439 (GRCm39) |
|
probably null |
Het |
Trim15 |
A |
G |
17: 37,173,233 (GRCm39) |
L284P |
probably benign |
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 |
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 |
|
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'- TGGCTTTCTTCCAGTGCTAG -3'
(R):5'- ATCACACTCAGGAGGAATGATG -3'
Sequencing Primer
(F):5'- CTCATTGAGTTTAGGAAAAGGTTCAG -3'
(R):5'- AGGAATGATGAAAGAAGTATTGTCC -3'
|
Posted On |
2018-08-01 |