Incidental Mutation 'IGL03172:Samd3'
ID |
411861 |
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 # |
IGL03172
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
26105605-26148070 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 26106064 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 14
(V14E)
|
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 damaging
Transcript: ENSMUST00000060716
AA Change: V14E
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000057805 Gene: ENSMUSG00000051354 AA Change: V14E
Domain | Start | End | E-Value | Type |
SAM
|
1 |
66 |
3e-7 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000164660
AA Change: V14E
PolyPhen 2
Score 0.818 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000129054 Gene: ENSMUSG00000051354 AA Change: V14E
Domain | Start | End | E-Value | Type |
SAM
|
1 |
66 |
3e-7 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000218301
AA Change: V41E
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219318
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000220219
AA Change: V14E
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9930111J21Rik1 |
T |
C |
11: 48,839,003 (GRCm39) |
H528R |
probably damaging |
Het |
A530053G22Rik |
A |
T |
6: 60,379,047 (GRCm39) |
|
noncoding transcript |
Het |
Aagab |
A |
G |
9: 63,542,676 (GRCm39) |
|
probably benign |
Het |
Aknad1 |
A |
T |
3: 108,688,519 (GRCm39) |
I616F |
possibly damaging |
Het |
Ap2a1 |
A |
C |
7: 44,553,479 (GRCm39) |
D629E |
probably benign |
Het |
Apc2 |
C |
A |
10: 80,149,220 (GRCm39) |
Q1425K |
probably damaging |
Het |
Asf1b |
A |
C |
8: 84,694,542 (GRCm39) |
H102P |
probably benign |
Het |
Celf6 |
C |
T |
9: 59,489,565 (GRCm39) |
A90V |
probably damaging |
Het |
Chrna2 |
A |
T |
14: 66,379,688 (GRCm39) |
Q9L |
probably benign |
Het |
Csnk1g3 |
A |
G |
18: 54,086,356 (GRCm39) |
I420M |
possibly damaging |
Het |
Eml3 |
T |
C |
19: 8,916,543 (GRCm39) |
|
probably benign |
Het |
Epn3 |
T |
C |
11: 94,382,456 (GRCm39) |
N508S |
possibly damaging |
Het |
Fam120a |
T |
C |
13: 49,063,812 (GRCm39) |
Y608C |
probably damaging |
Het |
Fbn1 |
A |
C |
2: 125,162,888 (GRCm39) |
C2133G |
possibly damaging |
Het |
Fhl5 |
A |
G |
4: 25,211,309 (GRCm39) |
F128L |
probably damaging |
Het |
Fn1 |
T |
C |
1: 71,680,421 (GRCm39) |
N428S |
probably damaging |
Het |
Fxr2 |
T |
C |
11: 69,540,665 (GRCm39) |
|
probably null |
Het |
Gabrp |
T |
C |
11: 33,504,388 (GRCm39) |
Y309C |
probably damaging |
Het |
Golga2 |
A |
G |
2: 32,182,168 (GRCm39) |
I50V |
probably benign |
Het |
Ifi203 |
C |
T |
1: 173,764,158 (GRCm39) |
G105R |
possibly damaging |
Het |
Itgav |
A |
T |
2: 83,596,190 (GRCm39) |
Q201L |
possibly damaging |
Het |
Jade2 |
T |
C |
11: 51,716,198 (GRCm39) |
T336A |
probably damaging |
Het |
Kdm4b |
A |
G |
17: 56,708,649 (GRCm39) |
D996G |
probably damaging |
Het |
Me2 |
A |
G |
18: 73,903,797 (GRCm39) |
I557T |
probably benign |
Het |
Memo1 |
A |
C |
17: 74,551,996 (GRCm39) |
L100R |
probably damaging |
Het |
Mrps2 |
A |
G |
2: 28,359,818 (GRCm39) |
N225S |
probably damaging |
Het |
Ndufa2 |
A |
G |
18: 36,877,278 (GRCm39) |
|
probably null |
Het |
Or2g7 |
G |
T |
17: 38,378,275 (GRCm39) |
C71F |
probably damaging |
Het |
Or7g19 |
G |
A |
9: 18,856,757 (GRCm39) |
S271N |
probably benign |
Het |
Pak5 |
G |
T |
2: 135,940,310 (GRCm39) |
Y501* |
probably null |
Het |
Pot1b |
A |
T |
17: 56,002,206 (GRCm39) |
F123I |
possibly damaging |
Het |
Rev3l |
T |
C |
10: 39,700,786 (GRCm39) |
V1761A |
probably benign |
Het |
Slc4a8 |
G |
A |
15: 100,697,598 (GRCm39) |
A605T |
probably benign |
Het |
Smgc |
A |
T |
15: 91,744,642 (GRCm39) |
D333V |
probably damaging |
Het |
Spata4 |
A |
G |
8: 55,055,440 (GRCm39) |
I147V |
probably benign |
Het |
Ttc23l |
G |
A |
15: 10,537,652 (GRCm39) |
S206L |
probably benign |
Het |
Vmn2r73 |
G |
A |
7: 85,507,495 (GRCm39) |
H606Y |
probably benign |
Het |
Vsig8 |
A |
G |
1: 172,387,916 (GRCm39) |
N2S |
probably damaging |
Het |
Wdr17 |
A |
C |
8: 55,114,515 (GRCm39) |
I667R |
probably damaging |
Het |
Yif1b |
A |
G |
7: 28,937,873 (GRCm39) |
|
probably null |
Het |
Zbtb5 |
A |
T |
4: 44,994,003 (GRCm39) |
H460Q |
possibly damaging |
Het |
Zdhhc21 |
G |
A |
4: 82,724,564 (GRCm39) |
|
probably benign |
Het |
Zfp944 |
A |
T |
17: 22,559,018 (GRCm39) |
H76Q |
probably damaging |
Het |
Zkscan1 |
A |
G |
5: 138,092,264 (GRCm39) |
Q146R |
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 |
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 |
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 |
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 |
2016-08-02 |