Incidental Mutation 'R5736:Samd3'
ID |
451708 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Samd3
|
Ensembl Gene |
ENSMUSG00000051354 |
Gene Name |
sterile alpha motif domain containing 3 |
Synonyms |
LOC268288 |
MMRRC Submission |
043194-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.177)
|
Stock # |
R5736 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
26105605-26148070 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 26146070 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 365
(I365T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151558
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040219]
[ENSMUST00000060716]
[ENSMUST00000105519]
[ENSMUST00000220219]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000040219
|
SMART Domains |
Protein: ENSMUSP00000037619 Gene: ENSMUSG00000039089
Domain | Start | End | E-Value | Type |
low complexity region
|
154 |
166 |
N/A |
INTRINSIC |
low complexity region
|
204 |
214 |
N/A |
INTRINSIC |
MBT
|
232 |
332 |
3.75e-48 |
SMART |
MBT
|
340 |
439 |
3.67e-42 |
SMART |
MBT
|
448 |
543 |
7.5e-48 |
SMART |
low complexity region
|
604 |
615 |
N/A |
INTRINSIC |
low complexity region
|
662 |
770 |
N/A |
INTRINSIC |
SAM
|
808 |
875 |
2.49e-13 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000060716
AA Change: I365T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000057805 Gene: ENSMUSG00000051354 AA Change: I365T
Domain | Start | End | E-Value | Type |
SAM
|
1 |
66 |
3e-7 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000105519
|
SMART Domains |
Protein: ENSMUSP00000101158 Gene: ENSMUSG00000039089
Domain | Start | End | E-Value | Type |
low complexity region
|
129 |
141 |
N/A |
INTRINSIC |
low complexity region
|
179 |
189 |
N/A |
INTRINSIC |
MBT
|
207 |
307 |
3.75e-48 |
SMART |
MBT
|
315 |
414 |
3.67e-42 |
SMART |
MBT
|
423 |
518 |
7.5e-48 |
SMART |
low complexity region
|
579 |
590 |
N/A |
INTRINSIC |
low complexity region
|
637 |
745 |
N/A |
INTRINSIC |
SAM
|
783 |
850 |
2.49e-13 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218585
|
Predicted Effect |
unknown
Transcript: ENSMUST00000219738
AA Change: I38T
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000220219
AA Change: I365T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 96.5%
- 20x: 93.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A630095N17Rik |
G |
A |
1: 75,197,211 (GRCm39) |
|
probably benign |
Het |
Akt1 |
G |
A |
12: 112,623,284 (GRCm39) |
R367C |
probably benign |
Het |
Arl8a |
T |
A |
1: 135,082,458 (GRCm39) |
S150T |
probably benign |
Het |
B020004C17Rik |
A |
T |
14: 57,254,823 (GRCm39) |
T216S |
possibly damaging |
Het |
Casz1 |
G |
A |
4: 149,013,867 (GRCm39) |
V144I |
probably benign |
Het |
Cd274 |
G |
T |
19: 29,359,940 (GRCm39) |
L248F |
probably benign |
Het |
Crisp4 |
T |
C |
1: 18,185,939 (GRCm39) |
T266A |
probably benign |
Het |
Dlx6 |
A |
T |
6: 6,863,660 (GRCm39) |
H94L |
probably damaging |
Het |
Exoc1 |
A |
G |
5: 76,685,615 (GRCm39) |
N109S |
possibly damaging |
Het |
Grik2 |
T |
C |
10: 49,280,506 (GRCm39) |
E128G |
probably damaging |
Het |
Hs3st4 |
G |
A |
7: 123,996,662 (GRCm39) |
E443K |
probably damaging |
Het |
Ihh |
T |
C |
1: 74,985,286 (GRCm39) |
T400A |
probably benign |
Het |
Lamb1 |
T |
A |
12: 31,352,664 (GRCm39) |
C806* |
probably null |
Het |
Lrrn1 |
T |
C |
6: 107,544,345 (GRCm39) |
S48P |
probably damaging |
Het |
Lsm11 |
T |
C |
11: 45,835,594 (GRCm39) |
N49S |
possibly damaging |
Het |
Map3k11 |
C |
T |
19: 5,746,739 (GRCm39) |
A507V |
probably damaging |
Het |
Mill2 |
A |
T |
7: 18,592,174 (GRCm39) |
Q265L |
probably benign |
Het |
Odad2 |
T |
C |
18: 7,268,416 (GRCm39) |
T368A |
probably benign |
Het |
Or4s2b |
T |
C |
2: 88,508,985 (GRCm39) |
M255T |
probably benign |
Het |
Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
Peg10 |
T |
A |
6: 4,754,423 (GRCm39) |
L68Q |
probably benign |
Het |
Phka2 |
ACC |
AC |
X: 159,342,862 (GRCm39) |
|
probably null |
Het |
Prkag2 |
A |
T |
5: 25,083,720 (GRCm39) |
Y88N |
probably damaging |
Het |
Prmt5 |
A |
C |
14: 54,752,297 (GRCm39) |
D166E |
probably null |
Het |
Robo4 |
A |
T |
9: 37,316,093 (GRCm39) |
T366S |
possibly damaging |
Het |
Sdf2l1 |
A |
T |
16: 16,949,571 (GRCm39) |
C92S |
probably damaging |
Het |
Serpinb6e |
A |
G |
13: 34,016,753 (GRCm39) |
F327L |
probably damaging |
Het |
Slc17a6 |
G |
A |
7: 51,294,841 (GRCm39) |
V183I |
possibly damaging |
Het |
Slc6a11 |
T |
C |
6: 114,139,123 (GRCm39) |
S244P |
probably damaging |
Het |
Slc6a5 |
A |
G |
7: 49,609,102 (GRCm39) |
D769G |
probably benign |
Het |
Slc7a14 |
A |
T |
3: 31,278,059 (GRCm39) |
D515E |
probably benign |
Het |
Slco2a1 |
A |
T |
9: 102,945,029 (GRCm39) |
S135C |
probably benign |
Het |
Spidr |
A |
T |
16: 15,715,162 (GRCm39) |
D801E |
probably damaging |
Het |
Spta1 |
T |
C |
1: 174,041,821 (GRCm39) |
|
probably null |
Het |
Tmem71 |
C |
T |
15: 66,404,496 (GRCm39) |
V264I |
probably benign |
Het |
Zfp563 |
G |
T |
17: 33,323,960 (GRCm39) |
R185L |
possibly damaging |
Het |
Zfp941 |
G |
A |
7: 140,392,973 (GRCm39) |
P129S |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GCTGAGCTACTAATAACTCGGG -3'
(R):5'- TCTGGAGTTGCGGAAATGC -3'
Sequencing Primer
(F):5'- ACTCGGGGATAGATCATGTCATTC -3'
(R):5'- TTGCGGAAATGCTGGAAATGGC -3'
|
Posted On |
2017-01-03 |