Incidental Mutation 'IGL02211:Samd3'
ID |
284694 |
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 # |
IGL02211
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
26105605-26148070 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 26109455 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Tryptophan
at position 128
(G128W)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151853
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060716]
[ENSMUST00000164660]
[ENSMUST00000218301]
[ENSMUST00000220219]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000060716
AA Change: G101W
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000057805 Gene: ENSMUSG00000051354 AA Change: G101W
Domain | Start | End | E-Value | Type |
SAM
|
1 |
66 |
3e-7 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000164660
AA Change: G101W
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000129054 Gene: ENSMUSG00000051354 AA Change: G101W
Domain | Start | End | E-Value | Type |
SAM
|
1 |
66 |
3e-7 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000218301
AA Change: G128W
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219318
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000220219
AA Change: G101W
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Apoc3 |
C |
A |
9: 46,144,513 (GRCm39) |
|
probably benign |
Het |
Atp8a2 |
C |
T |
14: 60,265,425 (GRCm39) |
G304R |
probably benign |
Het |
Brd8 |
C |
T |
18: 34,735,780 (GRCm39) |
S899N |
probably damaging |
Het |
Cct4 |
A |
G |
11: 22,943,327 (GRCm39) |
|
probably benign |
Het |
Cd28 |
T |
C |
1: 60,802,153 (GRCm39) |
V24A |
probably damaging |
Het |
Cfap70 |
T |
C |
14: 20,445,040 (GRCm39) |
N1080S |
probably damaging |
Het |
Cpa6 |
A |
T |
1: 10,665,861 (GRCm39) |
I59K |
possibly damaging |
Het |
Cramp1 |
A |
G |
17: 25,196,610 (GRCm39) |
S835P |
possibly damaging |
Het |
Crim1 |
T |
C |
17: 78,662,574 (GRCm39) |
L799S |
probably damaging |
Het |
Cxcl16 |
T |
C |
11: 70,346,858 (GRCm39) |
H95R |
possibly damaging |
Het |
Dip2c |
T |
A |
13: 9,660,883 (GRCm39) |
C915S |
probably damaging |
Het |
Dytn |
T |
A |
1: 63,714,089 (GRCm39) |
N137Y |
possibly damaging |
Het |
Exoc5 |
T |
A |
14: 49,251,667 (GRCm39) |
Q628L |
probably damaging |
Het |
Flii |
A |
G |
11: 60,609,124 (GRCm39) |
|
probably benign |
Het |
Hnrnph3 |
A |
T |
10: 62,853,121 (GRCm39) |
|
probably benign |
Het |
Iqsec1 |
A |
G |
6: 90,648,591 (GRCm39) |
L830P |
probably damaging |
Het |
Kank1 |
G |
T |
19: 25,407,702 (GRCm39) |
G1232V |
probably damaging |
Het |
Kcnmb2 |
A |
G |
3: 32,252,483 (GRCm39) |
E228G |
probably damaging |
Het |
Limk1 |
A |
T |
5: 134,686,491 (GRCm39) |
V538E |
probably damaging |
Het |
Mmp20 |
T |
A |
9: 7,655,071 (GRCm39) |
I393K |
probably damaging |
Het |
Mtmr1 |
A |
G |
X: 70,455,863 (GRCm39) |
D574G |
possibly damaging |
Het |
Nr1h2 |
A |
C |
7: 44,199,884 (GRCm39) |
M345R |
probably damaging |
Het |
Nyap1 |
T |
C |
5: 137,737,937 (GRCm39) |
H15R |
probably damaging |
Het |
Or2ak4 |
G |
T |
11: 58,649,196 (GRCm39) |
S235I |
possibly damaging |
Het |
Or52h7 |
A |
T |
7: 104,214,333 (GRCm39) |
K302* |
probably null |
Het |
Pde4b |
T |
G |
4: 102,448,019 (GRCm39) |
|
probably benign |
Het |
Pgrmc2 |
A |
G |
3: 41,037,068 (GRCm39) |
V121A |
probably damaging |
Het |
Ptges3 |
T |
C |
10: 127,911,927 (GRCm39) |
|
probably benign |
Het |
Ranbp2 |
T |
C |
10: 58,314,064 (GRCm39) |
S1595P |
probably benign |
Het |
Rhbdf2 |
A |
G |
11: 116,491,261 (GRCm39) |
F625L |
possibly damaging |
Het |
Rhpn1 |
T |
C |
15: 75,582,905 (GRCm39) |
S281P |
possibly damaging |
Het |
Septin5 |
T |
C |
16: 18,443,629 (GRCm39) |
K51E |
probably damaging |
Het |
Serpina7 |
G |
A |
X: 137,982,062 (GRCm39) |
T185I |
probably damaging |
Het |
Slc25a25 |
A |
G |
2: 32,307,452 (GRCm39) |
V303A |
probably damaging |
Het |
Slc5a4b |
A |
T |
10: 75,896,297 (GRCm39) |
|
probably benign |
Het |
Srpk3 |
A |
T |
X: 72,818,754 (GRCm39) |
H114L |
probably benign |
Het |
Sybu |
T |
G |
15: 44,536,862 (GRCm39) |
Q360P |
probably damaging |
Het |
Vmn1r179 |
A |
T |
7: 23,628,630 (GRCm39) |
I274F |
probably benign |
Het |
Wdsub1 |
G |
T |
2: 59,689,080 (GRCm39) |
R381S |
probably damaging |
Het |
Wscd1 |
G |
A |
11: 71,679,801 (GRCm39) |
R558H |
probably damaging |
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 |
IGL00754:Samd3
|
APN |
10 |
26,120,425 (GRCm39) |
missense |
probably benign |
0.19 |
IGL01672:Samd3
|
APN |
10 |
26,146,067 (GRCm39) |
missense |
possibly damaging |
0.94 |
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 |
2015-04-16 |