Incidental Mutation 'IGL00754:Samd3'
ID |
13906 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Samd3
|
Ensembl Gene |
ENSMUSG00000051354 |
Gene Name |
sterile alpha motif domain containing 3 |
Synonyms |
LOC268288 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.177)
|
Stock # |
IGL00754
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
26105605-26148070 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 26120425 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 140
(T140A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151558
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060716]
[ENSMUST00000164660]
[ENSMUST00000218301]
[ENSMUST00000220219]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000060716
AA Change: T140A
PolyPhen 2
Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000057805 Gene: ENSMUSG00000051354 AA Change: T140A
Domain | Start | End | E-Value | Type |
SAM
|
1 |
66 |
3e-7 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000164660
AA Change: T140A
PolyPhen 2
Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000129054 Gene: ENSMUSG00000051354 AA Change: T140A
Domain | Start | End | E-Value | Type |
SAM
|
1 |
66 |
3e-7 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000218301
AA Change: T167A
PolyPhen 2
Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219318
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000220219
AA Change: T140A
PolyPhen 2
Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahi1 |
G |
A |
10: 20,848,040 (GRCm39) |
G483R |
probably damaging |
Het |
Ano1 |
T |
C |
7: 144,150,968 (GRCm39) |
I816V |
probably damaging |
Het |
Aprt |
T |
C |
8: 123,302,232 (GRCm39) |
Q77R |
probably benign |
Het |
Bcas3 |
T |
A |
11: 85,386,649 (GRCm39) |
|
probably benign |
Het |
Casp8ap2 |
A |
G |
4: 32,641,036 (GRCm39) |
M697V |
probably benign |
Het |
Cgas |
G |
A |
9: 78,342,770 (GRCm39) |
P344L |
probably damaging |
Het |
Chrnd |
A |
C |
1: 87,123,506 (GRCm39) |
E348A |
probably benign |
Het |
Ctnnbl1 |
A |
T |
2: 157,661,461 (GRCm39) |
S324C |
possibly damaging |
Het |
Dgkb |
C |
A |
12: 38,488,567 (GRCm39) |
N644K |
probably benign |
Het |
Dnajc13 |
A |
T |
9: 104,051,697 (GRCm39) |
L1720* |
probably null |
Het |
Ehbp1 |
A |
G |
11: 22,197,967 (GRCm39) |
|
probably benign |
Het |
Eif1b |
G |
T |
9: 120,323,686 (GRCm39) |
C94F |
probably benign |
Het |
Fmnl3 |
G |
A |
15: 99,220,551 (GRCm39) |
T577I |
probably damaging |
Het |
Gm28042 |
G |
A |
2: 119,860,837 (GRCm39) |
G96R |
probably damaging |
Het |
Hcrtr1 |
A |
G |
4: 130,031,026 (GRCm39) |
V86A |
probably damaging |
Het |
Klrc3 |
A |
T |
6: 129,618,389 (GRCm39) |
S131R |
probably damaging |
Het |
Mboat4 |
A |
G |
8: 34,591,708 (GRCm39) |
T382A |
probably benign |
Het |
Oosp1 |
A |
T |
19: 11,645,069 (GRCm39) |
H198Q |
possibly damaging |
Het |
Parp14 |
T |
C |
16: 35,659,741 (GRCm39) |
D1627G |
probably benign |
Het |
Pdcd11 |
T |
A |
19: 47,092,221 (GRCm39) |
F406I |
possibly damaging |
Het |
Ppara |
T |
C |
15: 85,661,843 (GRCm39) |
L28S |
probably damaging |
Het |
Sf3b1 |
A |
G |
1: 55,026,645 (GRCm39) |
F1255L |
probably damaging |
Het |
Stard6 |
T |
A |
18: 70,616,559 (GRCm39) |
S73T |
probably benign |
Het |
Tnip2 |
T |
C |
5: 34,656,643 (GRCm39) |
I221V |
probably benign |
Het |
Ttn |
A |
G |
2: 76,612,429 (GRCm39) |
I8859T |
possibly damaging |
Het |
Ube3b |
T |
C |
5: 114,553,348 (GRCm39) |
S907P |
possibly damaging |
Het |
Utp25 |
G |
T |
1: 192,797,309 (GRCm39) |
N514K |
probably damaging |
Het |
Utrn |
A |
G |
10: 12,539,236 (GRCm39) |
V1927A |
probably benign |
Het |
Zfp945 |
T |
C |
17: 23,070,931 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Samd3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00532:Samd3
|
APN |
10 |
26,127,744 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01672:Samd3
|
APN |
10 |
26,146,067 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL02211:Samd3
|
APN |
10 |
26,109,455 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02397:Samd3
|
APN |
10 |
26,109,474 (GRCm39) |
missense |
possibly damaging |
0.85 |
IGL02755:Samd3
|
APN |
10 |
26,120,475 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02885:Samd3
|
APN |
10 |
26,147,762 (GRCm39) |
missense |
probably benign |
0.43 |
IGL03115:Samd3
|
APN |
10 |
26,147,606 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03157:Samd3
|
APN |
10 |
26,139,740 (GRCm39) |
missense |
probably benign |
0.05 |
IGL03172:Samd3
|
APN |
10 |
26,106,064 (GRCm39) |
missense |
probably damaging |
1.00 |
BB006:Samd3
|
UTSW |
10 |
26,127,813 (GRCm39) |
missense |
probably damaging |
1.00 |
BB016:Samd3
|
UTSW |
10 |
26,127,813 (GRCm39) |
missense |
probably damaging |
1.00 |
R0034:Samd3
|
UTSW |
10 |
26,147,398 (GRCm39) |
splice site |
probably benign |
|
R0081:Samd3
|
UTSW |
10 |
26,147,399 (GRCm39) |
splice site |
probably benign |
|
R0197:Samd3
|
UTSW |
10 |
26,147,752 (GRCm39) |
missense |
possibly damaging |
0.77 |
R0566:Samd3
|
UTSW |
10 |
26,120,396 (GRCm39) |
missense |
possibly damaging |
0.83 |
R0632:Samd3
|
UTSW |
10 |
26,120,393 (GRCm39) |
missense |
possibly damaging |
0.86 |
R0782:Samd3
|
UTSW |
10 |
26,146,138 (GRCm39) |
missense |
probably damaging |
0.97 |
R0834:Samd3
|
UTSW |
10 |
26,147,725 (GRCm39) |
missense |
probably benign |
0.01 |
R1106:Samd3
|
UTSW |
10 |
26,147,689 (GRCm39) |
missense |
possibly damaging |
0.57 |
R1844:Samd3
|
UTSW |
10 |
26,127,672 (GRCm39) |
missense |
probably damaging |
1.00 |
R1907:Samd3
|
UTSW |
10 |
26,147,754 (GRCm39) |
nonsense |
probably null |
|
R1929:Samd3
|
UTSW |
10 |
26,139,884 (GRCm39) |
splice site |
probably benign |
|
R2925:Samd3
|
UTSW |
10 |
26,127,785 (GRCm39) |
missense |
probably benign |
0.37 |
R5104:Samd3
|
UTSW |
10 |
26,139,686 (GRCm39) |
missense |
possibly damaging |
0.61 |
R5736:Samd3
|
UTSW |
10 |
26,146,070 (GRCm39) |
missense |
probably damaging |
1.00 |
R7120:Samd3
|
UTSW |
10 |
26,106,864 (GRCm39) |
missense |
possibly damaging |
0.77 |
R7437:Samd3
|
UTSW |
10 |
26,146,004 (GRCm39) |
missense |
possibly damaging |
0.78 |
R7510:Samd3
|
UTSW |
10 |
26,106,006 (GRCm39) |
missense |
probably benign |
|
R7599:Samd3
|
UTSW |
10 |
26,139,711 (GRCm39) |
missense |
probably benign |
0.00 |
R7801:Samd3
|
UTSW |
10 |
26,139,770 (GRCm39) |
missense |
possibly damaging |
0.57 |
R7806:Samd3
|
UTSW |
10 |
26,120,425 (GRCm39) |
missense |
probably benign |
0.19 |
R7820:Samd3
|
UTSW |
10 |
26,109,416 (GRCm39) |
splice site |
probably null |
|
R7929:Samd3
|
UTSW |
10 |
26,127,813 (GRCm39) |
missense |
probably damaging |
1.00 |
R8298:Samd3
|
UTSW |
10 |
26,121,468 (GRCm39) |
missense |
probably damaging |
1.00 |
R8979:Samd3
|
UTSW |
10 |
26,120,428 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9381:Samd3
|
UTSW |
10 |
26,147,643 (GRCm39) |
missense |
probably benign |
0.08 |
|
Posted On |
2012-12-06 |