Incidental Mutation 'R4249:Samd11'
| ID |
320523 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Samd11
|
| Ensembl Gene |
ENSMUSG00000096351 |
| Gene Name |
sterile alpha motif domain containing 11 |
| Synonyms |
mr-s |
| MMRRC Submission |
041065-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.132)
|
| Stock # |
R4249 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
156331423-156340717 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 156334943 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 102
(R102C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151817
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000179543]
[ENSMUST00000179886]
[ENSMUST00000179919]
[ENSMUST00000217934]
[ENSMUST00000218788]
[ENSMUST00000219393]
[ENSMUST00000220228]
|
| AlphaFold |
Q1RNF8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000179543
|
| SMART Domains |
Protein: ENSMUSP00000137253
Gene: ENSMUSG00000095567
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
58 |
N/A |
INTRINSIC |
|
low complexity region
|
97 |
114 |
N/A |
INTRINSIC |
|
low complexity region
|
121 |
139 |
N/A |
INTRINSIC |
|
Pfam:Noc2
|
331 |
626 |
1.8e-128 |
PFAM |
|
low complexity region
|
651 |
675 |
N/A |
INTRINSIC |
|
low complexity region
|
701 |
723 |
N/A |
INTRINSIC |
|
low complexity region
|
738 |
750 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000179886
|
| SMART Domains |
Protein: ENSMUSP00000137183
Gene: ENSMUSG00000095567
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Noc2
|
172 |
470 |
1.2e-117 |
PFAM |
|
low complexity region
|
494 |
518 |
N/A |
INTRINSIC |
|
low complexity region
|
544 |
566 |
N/A |
INTRINSIC |
|
low complexity region
|
581 |
593 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000179919
AA Change: R112C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000136611
Gene: ENSMUSG00000096351
AA Change: R112C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
277 |
295 |
N/A |
INTRINSIC |
|
low complexity region
|
365 |
385 |
N/A |
INTRINSIC |
|
low complexity region
|
401 |
410 |
N/A |
INTRINSIC |
|
SAM
|
411 |
478 |
1.82e-6 |
SMART |
|
low complexity region
|
486 |
503 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217800
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000217934
AA Change: R102C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218230
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000218788
AA Change: R102C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000219393
AA Change: R102C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219310
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219866
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220030
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220228
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700062C07Rik |
A |
G |
18: 24,606,013 (GRCm39) |
N36S |
possibly damaging |
Het |
| Ankrd39 |
A |
G |
1: 36,586,236 (GRCm39) |
S11P |
probably benign |
Het |
| Aox1 |
A |
G |
1: 58,338,978 (GRCm39) |
S324G |
probably benign |
Het |
| Atl3 |
T |
C |
19: 7,509,703 (GRCm39) |
V477A |
probably benign |
Het |
| Bcar1 |
T |
C |
8: 112,447,525 (GRCm39) |
T151A |
probably benign |
Het |
| Cdc42bpg |
A |
G |
19: 6,365,296 (GRCm39) |
T718A |
possibly damaging |
Het |
| Col9a1 |
C |
T |
1: 24,283,462 (GRCm39) |
R843C |
probably damaging |
Het |
| Dnah12 |
T |
A |
14: 26,430,341 (GRCm39) |
D316E |
possibly damaging |
Het |
| Fat2 |
A |
G |
11: 55,175,127 (GRCm39) |
V1862A |
probably damaging |
Het |
| Fbxw5 |
C |
A |
2: 25,393,472 (GRCm39) |
N233K |
probably damaging |
Het |
| Fcer2a |
A |
G |
8: 3,738,831 (GRCm39) |
F75L |
probably benign |
Het |
| Fhod3 |
A |
G |
18: 25,123,123 (GRCm39) |
K271R |
probably null |
Het |
| Gimd1 |
T |
C |
3: 132,350,169 (GRCm39) |
V144A |
possibly damaging |
Het |
| Glt1d1 |
T |
C |
5: 127,768,176 (GRCm39) |
|
probably null |
Het |
| Hecw2 |
C |
T |
1: 53,871,804 (GRCm39) |
V1381M |
probably damaging |
Het |
| Kansl1l |
C |
T |
1: 66,812,637 (GRCm39) |
D459N |
probably damaging |
Het |
| Lmtk3 |
G |
A |
7: 45,443,486 (GRCm39) |
C723Y |
possibly damaging |
Het |
| Muc4 |
T |
C |
16: 32,576,200 (GRCm39) |
|
probably benign |
Het |
| Myom1 |
T |
A |
17: 71,399,135 (GRCm39) |
V999E |
probably damaging |
Het |
| Nckap5 |
A |
G |
1: 125,955,376 (GRCm39) |
L460P |
probably benign |
Het |
| Or12d17 |
T |
C |
17: 37,777,715 (GRCm39) |
M206T |
probably damaging |
Het |
| Phf13 |
A |
T |
4: 152,076,552 (GRCm39) |
N213K |
probably damaging |
Het |
| Phldb3 |
T |
C |
7: 24,326,745 (GRCm39) |
I591T |
probably damaging |
Het |
| Pik3cb |
T |
C |
9: 98,983,229 (GRCm39) |
|
probably null |
Het |
| Pkd1l1 |
C |
T |
11: 8,815,543 (GRCm39) |
R1456K |
possibly damaging |
Het |
| Plekhh2 |
A |
G |
17: 84,893,765 (GRCm39) |
E860G |
possibly damaging |
Het |
| Resf1 |
T |
A |
6: 149,227,041 (GRCm39) |
M29K |
possibly damaging |
Het |
| Rest |
A |
G |
5: 77,429,959 (GRCm39) |
T793A |
probably benign |
Het |
| Ropn1 |
C |
T |
16: 34,498,826 (GRCm39) |
Q205* |
probably null |
Het |
| Sacs |
A |
C |
14: 61,440,906 (GRCm39) |
K984T |
probably benign |
Het |
| Satl1 |
A |
G |
X: 111,316,033 (GRCm39) |
S141P |
probably benign |
Het |
| Shank1 |
C |
A |
7: 43,969,160 (GRCm39) |
H352N |
unknown |
Het |
| Slc22a27 |
A |
T |
19: 7,903,244 (GRCm39) |
I162K |
possibly damaging |
Het |
| Snx8 |
A |
G |
5: 140,341,800 (GRCm39) |
L121P |
probably damaging |
Het |
| Sumf1 |
A |
C |
6: 108,131,974 (GRCm39) |
V156G |
probably damaging |
Het |
| Tln1 |
A |
T |
4: 43,536,104 (GRCm39) |
V2027E |
probably damaging |
Het |
| Trdn |
A |
G |
10: 33,326,994 (GRCm39) |
I594M |
probably benign |
Het |
| Trim5 |
C |
G |
7: 103,926,022 (GRCm39) |
E180Q |
possibly damaging |
Het |
| Tsen2 |
A |
G |
6: 115,524,785 (GRCm39) |
|
probably benign |
Het |
| Tubb1 |
A |
T |
2: 174,297,526 (GRCm39) |
E45V |
probably null |
Het |
| Vmn2r67 |
T |
A |
7: 84,799,722 (GRCm39) |
|
probably null |
Het |
| Zcchc14 |
CTGATGGTGGTGGTGATGGTGGTGG |
CTGATGGTGGTGG |
8: 122,331,031 (GRCm39) |
|
probably benign |
Het |
| Zfp160 |
T |
A |
17: 21,246,000 (GRCm39) |
F183L |
probably benign |
Het |
|
| Other mutations in Samd11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R1921:Samd11
|
UTSW |
4 |
156,333,166 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3710:Samd11
|
UTSW |
4 |
156,334,952 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4169:Samd11
|
UTSW |
4 |
156,332,203 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4586:Samd11
|
UTSW |
4 |
156,333,889 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4735:Samd11
|
UTSW |
4 |
156,333,230 (GRCm39) |
missense |
probably benign |
|
|
R4794:Samd11
|
UTSW |
4 |
156,333,922 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6481:Samd11
|
UTSW |
4 |
156,333,535 (GRCm39) |
splice site |
probably null |
|
|
R6583:Samd11
|
UTSW |
4 |
156,332,591 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7165:Samd11
|
UTSW |
4 |
156,336,747 (GRCm39) |
missense |
probably benign |
|
|
R7357:Samd11
|
UTSW |
4 |
156,340,067 (GRCm39) |
splice site |
probably null |
|
|
R7402:Samd11
|
UTSW |
4 |
156,333,230 (GRCm39) |
missense |
probably benign |
|
|
R7426:Samd11
|
UTSW |
4 |
156,333,857 (GRCm39) |
missense |
probably benign |
|
|
R7645:Samd11
|
UTSW |
4 |
156,340,243 (GRCm39) |
start gained |
probably benign |
|
|
R7761:Samd11
|
UTSW |
4 |
156,332,282 (GRCm39) |
missense |
probably benign |
|
|
R8413:Samd11
|
UTSW |
4 |
156,333,730 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8716:Samd11
|
UTSW |
4 |
156,333,727 (GRCm39) |
missense |
probably benign |
0.31 |
|
R8814:Samd11
|
UTSW |
4 |
156,332,341 (GRCm39) |
missense |
probably benign |
0.19 |
|
R8822:Samd11
|
UTSW |
4 |
156,336,764 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCTTCTCAAGTAACAAGCATAGC -3'
(R):5'- AAGCAAAGTGCCTTCCCTGC -3'
Sequencing Primer
(F):5'- TCTCAAGTAACAAGCATAGCATGTGG -3'
(R):5'- GCTGATCCTCTAGCCTGTGACAC -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation