Incidental Mutation 'IGL03115:Samd3'
| ID |
419379 |
| 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 # |
IGL03115
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
26105605-26148070 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 26147606 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 427
(T427M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151558
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040219]
[ENSMUST00000060716]
[ENSMUST00000105519]
[ENSMUST00000174766]
[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: T427M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000057805
Gene: ENSMUSG00000051354
AA Change: T427M
| 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 |
probably benign
Transcript: ENSMUST00000174766
|
| SMART Domains |
Protein: ENSMUSP00000133479
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 |
noncoding transcript
Transcript: ENSMUST00000218585
|
| Predicted Effect |
silent
Transcript: ENSMUST00000219738
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000220219
AA Change: T427M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamdec1 |
T |
A |
14: 68,808,802 (GRCm39) |
H302L |
probably damaging |
Het |
| Adamts12 |
T |
A |
15: 11,263,422 (GRCm39) |
C595S |
probably damaging |
Het |
| Arid2 |
G |
A |
15: 96,268,154 (GRCm39) |
V756I |
probably damaging |
Het |
| Asah1 |
A |
T |
8: 41,813,336 (GRCm39) |
W26R |
possibly damaging |
Het |
| Brinp1 |
C |
T |
4: 68,822,973 (GRCm39) |
|
probably null |
Het |
| Cers2 |
A |
G |
3: 95,228,663 (GRCm39) |
D162G |
probably damaging |
Het |
| Clasp1 |
G |
T |
1: 118,429,053 (GRCm39) |
E106* |
probably null |
Het |
| Col12a1 |
T |
C |
9: 79,588,719 (GRCm39) |
E1132G |
probably damaging |
Het |
| Dhdds |
G |
T |
4: 133,710,182 (GRCm39) |
H196N |
probably benign |
Het |
| Eps8 |
T |
C |
6: 137,504,379 (GRCm39) |
D118G |
probably damaging |
Het |
| Fmo9 |
A |
G |
1: 166,505,220 (GRCm39) |
S7P |
probably damaging |
Het |
| Gamt |
A |
G |
10: 80,094,272 (GRCm39) |
L197P |
probably damaging |
Het |
| Grb7 |
A |
G |
11: 98,341,945 (GRCm39) |
I82V |
probably damaging |
Het |
| Hectd2 |
T |
C |
19: 36,577,121 (GRCm39) |
|
probably null |
Het |
| Ilk |
T |
C |
7: 105,389,542 (GRCm39) |
V83A |
probably damaging |
Het |
| Kif21a |
T |
A |
15: 90,869,598 (GRCm39) |
I418F |
probably damaging |
Het |
| Kndc1 |
A |
G |
7: 139,501,425 (GRCm39) |
I905V |
probably benign |
Het |
| Lyl1 |
C |
T |
8: 85,429,300 (GRCm39) |
P3L |
possibly damaging |
Het |
| Morc3 |
T |
C |
16: 93,667,971 (GRCm39) |
I710T |
probably damaging |
Het |
| Nefm |
T |
C |
14: 68,357,728 (GRCm39) |
|
probably benign |
Het |
| Or10d5 |
T |
C |
9: 39,862,040 (GRCm39) |
E9G |
probably damaging |
Het |
| Or2f2 |
A |
G |
6: 42,767,599 (GRCm39) |
T209A |
probably benign |
Het |
| Or8g23 |
C |
A |
9: 38,971,259 (GRCm39) |
R234S |
probably damaging |
Het |
| Pard6g |
T |
G |
18: 80,123,068 (GRCm39) |
L34W |
probably damaging |
Het |
| Patj |
C |
T |
4: 98,332,040 (GRCm39) |
S562L |
probably damaging |
Het |
| Pcsk4 |
A |
G |
10: 80,164,883 (GRCm39) |
I61T |
probably damaging |
Het |
| Pcsk7 |
T |
A |
9: 45,825,670 (GRCm39) |
H300Q |
probably damaging |
Het |
| Pip5kl1 |
A |
G |
2: 32,470,033 (GRCm39) |
D288G |
probably damaging |
Het |
| Plxnb2 |
T |
A |
15: 89,046,641 (GRCm39) |
|
probably benign |
Het |
| Poldip2 |
T |
C |
11: 78,411,970 (GRCm39) |
|
probably benign |
Het |
| Ralgapa2 |
T |
C |
2: 146,266,734 (GRCm39) |
Y614C |
probably damaging |
Het |
| Rarres1 |
C |
A |
3: 67,403,145 (GRCm39) |
|
probably null |
Het |
| Skap1 |
A |
G |
11: 96,593,446 (GRCm39) |
I98V |
probably benign |
Het |
| Skint11 |
T |
C |
4: 114,101,820 (GRCm39) |
S87P |
probably damaging |
Het |
| Slc22a22 |
T |
G |
15: 57,126,670 (GRCm39) |
E133A |
probably damaging |
Het |
| Slc23a2 |
T |
C |
2: 131,933,185 (GRCm39) |
Y91C |
probably damaging |
Het |
| Slc6a20b |
T |
A |
9: 123,426,403 (GRCm39) |
E494V |
possibly damaging |
Het |
| Slco1a4 |
A |
T |
6: 141,765,329 (GRCm39) |
D304E |
probably benign |
Het |
| Slco1a4 |
A |
C |
6: 141,763,585 (GRCm39) |
M377R |
probably damaging |
Het |
| Srpk2 |
T |
C |
5: 23,729,616 (GRCm39) |
|
probably null |
Het |
| Supt3 |
T |
G |
17: 45,352,114 (GRCm39) |
C271W |
probably damaging |
Het |
| Taar7d |
C |
A |
10: 23,903,539 (GRCm39) |
F140L |
probably benign |
Het |
| Tmbim7 |
T |
C |
5: 3,729,158 (GRCm39) |
*225Q |
probably null |
Het |
| Tpst1 |
T |
C |
5: 130,130,752 (GRCm39) |
I74T |
probably damaging |
Het |
| Utp3 |
T |
C |
5: 88,703,179 (GRCm39) |
V236A |
possibly damaging |
Het |
| Vmn2r55 |
A |
T |
7: 12,404,558 (GRCm39) |
F282I |
probably damaging |
Het |
| Vwa5b1 |
A |
T |
4: 138,327,460 (GRCm39) |
I372N |
possibly damaging |
Het |
| Wtip |
C |
T |
7: 33,824,958 (GRCm39) |
A209T |
probably damaging |
Het |
| Zbbx |
T |
C |
3: 74,985,867 (GRCm39) |
D395G |
probably benign |
Het |
| Zfp273 |
A |
T |
13: 67,973,769 (GRCm39) |
H299L |
probably damaging |
Het |
| Zfp459 |
G |
A |
13: 67,556,796 (GRCm39) |
R96* |
probably null |
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 |
|
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 |
2016-08-02 |
Incidental Mutation