Incidental Mutation 'R6583:Samd11'
| ID |
524220 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Samd11
|
| Ensembl Gene |
ENSMUSG00000096351 |
| Gene Name |
sterile alpha motif domain containing 11 |
| Synonyms |
mr-s |
| MMRRC Submission |
044707-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.132)
|
| Stock # |
R6583 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
156331423-156340717 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 156332591 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 446
(N446I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151442
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000179543]
[ENSMUST00000179886]
[ENSMUST00000179919]
[ENSMUST00000217934]
[ENSMUST00000218788]
[ENSMUST00000220228]
[ENSMUST00000219393]
|
| 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 |
possibly damaging
Transcript: ENSMUST00000179919
AA Change: N456I
PolyPhen 2
Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000136611
Gene: ENSMUSG00000096351
AA Change: N456I
| 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 |
possibly damaging
Transcript: ENSMUST00000217934
AA Change: N446I
PolyPhen 2
Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218230
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000218788
AA Change: N446I
PolyPhen 2
Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219310
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219866
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220030
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220228
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219393
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ank2 |
A |
C |
3: 126,810,613 (GRCm39) |
I491S |
probably damaging |
Het |
| Armc12 |
A |
T |
17: 28,757,588 (GRCm39) |
Q240L |
probably null |
Het |
| Cntnap5c |
C |
T |
17: 58,637,272 (GRCm39) |
P1050S |
probably damaging |
Het |
| Col4a3 |
C |
A |
1: 82,619,197 (GRCm39) |
A42E |
unknown |
Het |
| D630003M21Rik |
A |
G |
2: 158,062,436 (GRCm39) |
V28A |
probably damaging |
Het |
| Dbf4 |
A |
G |
5: 8,448,143 (GRCm39) |
S355P |
probably damaging |
Het |
| Dnah6 |
A |
G |
6: 73,150,516 (GRCm39) |
V749A |
probably benign |
Het |
| Exoc4 |
T |
C |
6: 33,792,688 (GRCm39) |
L606P |
probably damaging |
Het |
| Fggy |
T |
C |
4: 95,489,210 (GRCm39) |
S109P |
probably benign |
Het |
| Gdf7 |
T |
A |
12: 8,351,758 (GRCm39) |
Q59L |
unknown |
Het |
| M6pr |
T |
C |
6: 122,290,349 (GRCm39) |
V104A |
probably damaging |
Het |
| Macf1 |
A |
T |
4: 123,364,739 (GRCm39) |
|
probably null |
Het |
| Micu2 |
T |
C |
14: 58,181,127 (GRCm39) |
K169R |
probably damaging |
Het |
| Mthfd1l |
A |
G |
10: 3,997,937 (GRCm39) |
D636G |
probably damaging |
Het |
| Myo1c |
C |
T |
11: 75,562,461 (GRCm39) |
P918S |
probably benign |
Het |
| Nfib |
T |
G |
4: 82,416,708 (GRCm39) |
D125A |
probably damaging |
Het |
| Nuf2 |
T |
C |
1: 169,332,117 (GRCm39) |
T393A |
probably benign |
Het |
| Or8b49 |
G |
A |
9: 38,506,260 (GRCm39) |
V248I |
possibly damaging |
Het |
| Paox |
T |
A |
7: 139,706,291 (GRCm39) |
N70K |
probably damaging |
Het |
| Pnma8b |
A |
G |
7: 16,679,844 (GRCm39) |
N276S |
probably damaging |
Het |
| Ralgds |
G |
A |
2: 28,423,656 (GRCm39) |
A32T |
probably damaging |
Het |
| Soat1 |
T |
C |
1: 156,294,062 (GRCm39) |
|
probably null |
Het |
| Tmem87a |
A |
T |
2: 120,205,958 (GRCm39) |
V339E |
possibly damaging |
Het |
| Tmprss13 |
G |
T |
9: 45,256,603 (GRCm39) |
C516F |
probably damaging |
Het |
| Vmn2r69 |
T |
C |
7: 85,059,017 (GRCm39) |
T515A |
probably benign |
Het |
| Xrcc5 |
T |
C |
1: 72,351,752 (GRCm39) |
|
probably null |
Het |
| Ywhaz |
T |
C |
15: 36,791,166 (GRCm39) |
Y19C |
probably damaging |
Het |
| Zfp964 |
G |
T |
8: 70,115,633 (GRCm39) |
D78Y |
probably damaging |
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 |
|
R4249:Samd11
|
UTSW |
4 |
156,334,943 (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 |
|
|
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'- CTTGGCCACCTACAAAGAGACG -3'
(R):5'- ATGTCTGCAACTTCGTGGG -3'
Sequencing Primer
(F):5'- CGAAGCTGGGTGAATACCTGC -3'
(R):5'- AGGTCCCTAGGGTTCTGGC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation