Incidental Mutation 'IGL02397:Samd3'
| ID |
291705 |
| 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: 0.194)
|
| Stock # |
IGL02397
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
26105605-26148070 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 26109474 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 134
(Y134F)
|
| 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 benign
Transcript: ENSMUST00000060716
AA Change: Y107F
PolyPhen 2
Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000057805
Gene: ENSMUSG00000051354
AA Change: Y107F
| Domain | Start | End | E-Value | Type |
|---|
|
SAM
|
1 |
66 |
3e-7 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164660
AA Change: Y107F
PolyPhen 2
Score 0.342 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000129054
Gene: ENSMUSG00000051354
AA Change: Y107F
| Domain | Start | End | E-Value | Type |
|---|
|
SAM
|
1 |
66 |
3e-7 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000218301
AA Change: Y134F
PolyPhen 2
Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219318
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220219
AA Change: Y107F
PolyPhen 2
Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
A |
G |
6: 121,623,834 (GRCm39) |
N400S |
probably benign |
Het |
| Adam12 |
T |
A |
7: 133,511,548 (GRCm39) |
|
probably benign |
Het |
| Adam5 |
T |
C |
8: 25,234,149 (GRCm39) |
|
probably benign |
Het |
| Amn |
A |
T |
12: 111,240,913 (GRCm39) |
Y139F |
possibly damaging |
Het |
| Ano10 |
C |
A |
9: 122,090,458 (GRCm39) |
R285L |
probably damaging |
Het |
| Atad2b |
A |
G |
12: 5,024,046 (GRCm39) |
Y57C |
probably damaging |
Het |
| Brd8 |
T |
C |
18: 34,737,926 (GRCm39) |
K786R |
probably damaging |
Het |
| Cacna2d1 |
T |
C |
5: 16,525,162 (GRCm39) |
|
probably benign |
Het |
| Card9 |
C |
T |
2: 26,242,341 (GRCm39) |
D532N |
probably damaging |
Het |
| Cd22 |
T |
C |
7: 30,577,050 (GRCm39) |
T86A |
probably benign |
Het |
| Cebpz |
A |
T |
17: 79,230,690 (GRCm39) |
D842E |
possibly damaging |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Cspp1 |
A |
G |
1: 10,178,690 (GRCm39) |
N713S |
possibly damaging |
Het |
| Eml5 |
T |
C |
12: 98,756,933 (GRCm39) |
T1899A |
probably benign |
Het |
| Fpgs |
T |
C |
2: 32,575,801 (GRCm39) |
T381A |
probably damaging |
Het |
| Frmd7 |
G |
A |
X: 49,984,775 (GRCm39) |
T465I |
possibly damaging |
Het |
| Gm9837 |
A |
T |
11: 53,360,987 (GRCm39) |
|
probably benign |
Het |
| Hectd3 |
C |
A |
4: 116,860,333 (GRCm39) |
A816D |
possibly damaging |
Het |
| Itpripl2 |
A |
G |
7: 118,089,519 (GRCm39) |
W347R |
probably damaging |
Het |
| Kcnc3 |
A |
G |
7: 44,245,218 (GRCm39) |
T503A |
probably damaging |
Het |
| Mmadhc |
T |
C |
2: 50,178,992 (GRCm39) |
E142G |
possibly damaging |
Het |
| Nabp2 |
T |
A |
10: 128,244,192 (GRCm39) |
N138I |
possibly damaging |
Het |
| Obscn |
A |
G |
11: 58,967,725 (GRCm39) |
V2902A |
possibly damaging |
Het |
| Rbm8a2 |
T |
C |
1: 175,806,204 (GRCm39) |
D91G |
probably damaging |
Het |
| Slc11a2 |
A |
G |
15: 100,299,530 (GRCm39) |
F58S |
probably damaging |
Het |
| Slitrk4 |
T |
C |
X: 63,316,290 (GRCm39) |
T126A |
probably damaging |
Het |
| Sspo |
C |
A |
6: 48,438,572 (GRCm39) |
P1547T |
probably benign |
Het |
| Tecta |
T |
C |
9: 42,306,294 (GRCm39) |
S45G |
probably damaging |
Het |
| Tenm3 |
T |
C |
8: 48,689,729 (GRCm39) |
T1937A |
possibly damaging |
Het |
| Tmem214 |
G |
A |
5: 31,030,090 (GRCm39) |
A296T |
probably benign |
Het |
| Trmt1l |
T |
A |
1: 151,315,282 (GRCm39) |
I156N |
probably damaging |
Het |
| Vmn1r71 |
C |
T |
7: 10,482,199 (GRCm39) |
R163Q |
probably benign |
Het |
| Ythdf2 |
C |
T |
4: 131,938,757 (GRCm39) |
G13D |
probably damaging |
Het |
| Zbtb7c |
A |
T |
18: 76,270,047 (GRCm39) |
Y45F |
possibly damaging |
Het |
| Zfc3h1 |
G |
A |
10: 115,243,890 (GRCm39) |
M740I |
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 |
|
IGL02211:Samd3
|
APN |
10 |
26,109,455 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
Incidental Mutation