Incidental Mutation 'IGL02885:Samd3'
| ID |
362987 |
| 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 # |
IGL02885
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
26105605-26148070 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 26147762 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Lysine
at position 479
(R479K)
|
| 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 benign
Transcript: ENSMUST00000060716
AA Change: R479K
PolyPhen 2
Score 0.428 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000057805
Gene: ENSMUSG00000051354
AA Change: R479K
| 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 |
probably benign
Transcript: ENSMUST00000219738
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220219
AA Change: R479K
PolyPhen 2
Score 0.428 (Sensitivity: 0.89; Specificity: 0.90)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930407I10Rik |
A |
G |
15: 81,948,152 (GRCm39) |
N683S |
probably benign |
Het |
| Ahi1 |
T |
A |
10: 20,931,012 (GRCm39) |
F46I |
possibly damaging |
Het |
| Als2 |
C |
T |
1: 59,206,650 (GRCm39) |
V1598I |
probably benign |
Het |
| Arid1b |
A |
T |
17: 5,392,428 (GRCm39) |
D1986V |
probably damaging |
Het |
| Bhlhe41 |
T |
A |
6: 145,810,989 (GRCm39) |
D2V |
probably damaging |
Het |
| Borcs6 |
A |
G |
11: 68,951,072 (GRCm39) |
D150G |
possibly damaging |
Het |
| Ccdc88a |
G |
T |
11: 29,398,050 (GRCm39) |
R261L |
probably damaging |
Het |
| Ccne2 |
T |
A |
4: 11,198,723 (GRCm39) |
|
probably benign |
Het |
| Cenpk |
A |
G |
13: 104,385,903 (GRCm39) |
D266G |
probably damaging |
Het |
| Ces2b |
T |
C |
8: 105,561,563 (GRCm39) |
V219A |
probably damaging |
Het |
| Cpa1 |
A |
G |
6: 30,645,169 (GRCm39) |
R382G |
probably damaging |
Het |
| Cplx4 |
G |
T |
18: 66,089,984 (GRCm39) |
T145N |
probably damaging |
Het |
| Cyp19a1 |
T |
C |
9: 54,079,102 (GRCm39) |
I269V |
probably benign |
Het |
| Dennd3 |
A |
G |
15: 73,440,545 (GRCm39) |
Y1192C |
probably benign |
Het |
| Dpp6 |
T |
C |
5: 27,923,471 (GRCm39) |
Y694H |
probably damaging |
Het |
| Eea1 |
C |
A |
10: 95,877,346 (GRCm39) |
N1353K |
probably benign |
Het |
| Fam111a |
T |
A |
19: 12,561,488 (GRCm39) |
|
probably null |
Het |
| Fat1 |
T |
C |
8: 45,442,204 (GRCm39) |
S1169P |
probably benign |
Het |
| Frk |
G |
T |
10: 34,360,067 (GRCm39) |
A23S |
probably benign |
Het |
| Fyb2 |
T |
C |
4: 104,861,118 (GRCm39) |
V594A |
probably damaging |
Het |
| Gtpbp3 |
C |
A |
8: 71,942,064 (GRCm39) |
|
probably benign |
Het |
| Hoxa5 |
G |
T |
6: 52,179,688 (GRCm39) |
A229D |
probably damaging |
Het |
| Ift25 |
G |
A |
4: 107,130,866 (GRCm39) |
C52Y |
possibly damaging |
Het |
| Igf2r |
A |
T |
17: 12,913,007 (GRCm39) |
F1780L |
possibly damaging |
Het |
| Jade2 |
A |
T |
11: 51,722,123 (GRCm39) |
D143E |
probably damaging |
Het |
| Kdm1a |
T |
C |
4: 136,279,846 (GRCm39) |
I719V |
probably benign |
Het |
| Lama1 |
G |
A |
17: 68,111,531 (GRCm39) |
G2261R |
probably damaging |
Het |
| Lmx1b |
G |
T |
2: 33,457,216 (GRCm39) |
Q206K |
probably benign |
Het |
| Lrrtm4 |
G |
A |
6: 79,998,786 (GRCm39) |
G66D |
probably damaging |
Het |
| Myg1 |
G |
T |
15: 102,240,594 (GRCm39) |
G90C |
probably damaging |
Het |
| Nbea |
C |
T |
3: 55,539,407 (GRCm39) |
V2785I |
probably benign |
Het |
| Ncr1 |
C |
A |
7: 4,341,225 (GRCm39) |
P35Q |
probably damaging |
Het |
| Nos1 |
T |
A |
5: 118,033,855 (GRCm39) |
C326S |
probably damaging |
Het |
| Or12j2 |
T |
C |
7: 139,916,072 (GRCm39) |
F99S |
possibly damaging |
Het |
| Or3a1 |
G |
T |
11: 74,225,519 (GRCm39) |
H179Q |
possibly damaging |
Het |
| Or52r1 |
A |
T |
7: 102,537,243 (GRCm39) |
V39E |
possibly damaging |
Het |
| Pde4d |
A |
G |
13: 110,084,795 (GRCm39) |
Y520C |
probably damaging |
Het |
| Ppm1d |
A |
G |
11: 85,217,770 (GRCm39) |
M178V |
possibly damaging |
Het |
| Semp2l2b |
T |
A |
10: 21,943,057 (GRCm39) |
I308F |
possibly damaging |
Het |
| Serpinb6a |
A |
G |
13: 34,102,782 (GRCm39) |
V226A |
probably benign |
Het |
| Slc26a4 |
T |
C |
12: 31,575,475 (GRCm39) |
E737G |
probably benign |
Het |
| Slc34a3 |
A |
G |
2: 25,121,069 (GRCm39) |
C340R |
probably damaging |
Het |
| Spata31d1b |
C |
A |
13: 59,866,941 (GRCm39) |
|
probably benign |
Het |
| Trappc12 |
A |
G |
12: 28,797,013 (GRCm39) |
V173A |
probably benign |
Het |
| Vmn2r66 |
A |
T |
7: 84,644,723 (GRCm39) |
D562E |
probably benign |
Het |
| Zfp395 |
C |
T |
14: 65,633,344 (GRCm39) |
P451L |
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 |
|
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 |
2015-12-18 |
Incidental Mutation