Incidental Mutation 'R4991:Samd4'
ID |
386218 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Samd4
|
Ensembl Gene |
ENSMUSG00000021838 |
Gene Name |
sterile alpha motif domain containing 4 |
Synonyms |
Smaug, 1700111L17Rik, 1700024G08Rik, 4933436G17Rik, sunk |
MMRRC Submission |
042585-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.784)
|
Stock # |
R4991 (G1)
|
Quality Score |
148 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
47120414-47343274 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 47311467 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Cysteine
at position 262
(S262C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153846
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022386]
[ENSMUST00000100672]
[ENSMUST00000125113]
[ENSMUST00000125688]
[ENSMUST00000137543]
[ENSMUST00000228404]
|
AlphaFold |
Q8CBY1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000022386
AA Change: S451C
PolyPhen 2
Score 0.280 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000022386 Gene: ENSMUSG00000021838 AA Change: S451C
Domain | Start | End | E-Value | Type |
low complexity region
|
82 |
95 |
N/A |
INTRINSIC |
low complexity region
|
292 |
305 |
N/A |
INTRINSIC |
SAM
|
320 |
383 |
1.4e-7 |
SMART |
low complexity region
|
445 |
463 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000100672
AA Change: S363C
PolyPhen 2
Score 0.632 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000098237 Gene: ENSMUSG00000021838 AA Change: S363C
Domain | Start | End | E-Value | Type |
low complexity region
|
82 |
95 |
N/A |
INTRINSIC |
SAM
|
232 |
295 |
2.75e-6 |
SMART |
low complexity region
|
357 |
375 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000125113
AA Change: S350C
PolyPhen 2
Score 0.280 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000122833 Gene: ENSMUSG00000021838 AA Change: S350C
Domain | Start | End | E-Value | Type |
low complexity region
|
191 |
204 |
N/A |
INTRINSIC |
SAM
|
219 |
282 |
1.4e-7 |
SMART |
low complexity region
|
344 |
362 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000125688
AA Change: S42C
PolyPhen 2
Score 0.280 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000115569 Gene: ENSMUSG00000021838 AA Change: S42C
Domain | Start | End | E-Value | Type |
low complexity region
|
36 |
54 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000137543
AA Change: S363C
PolyPhen 2
Score 0.632 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000114621 Gene: ENSMUSG00000021838 AA Change: S363C
Domain | Start | End | E-Value | Type |
low complexity region
|
82 |
95 |
N/A |
INTRINSIC |
SAM
|
232 |
295 |
2.75e-6 |
SMART |
low complexity region
|
357 |
375 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000227848
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000228404
AA Change: S262C
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.7%
- 20x: 90.0%
|
Validation Efficiency |
95% (73/77) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Sterile alpha motifs (SAMs) in proteins such as SAMD4A are part of an RNA-binding domain that functions as a posttranscriptional regulator by binding to an RNA sequence motif known as the Smaug recognition element, which was named after the Drosophila Smaug protein (Baez and Boccaccio, 2005 [PubMed 16221671]).[supplied by OMIM, Mar 2008] PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit leaness, myopathy and altered glucose metabolism. Mice homozygous for a spontaneous mutation exhibit kyphosis, abnormal gait, and decreased cortical bone thickness. [provided by MGI curators]
|
Allele List at MGI |
ll alleles(1) : Gene trapped(1) |
Other mutations in this stock |
Total: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy4 |
G |
T |
14: 56,010,922 (GRCm39) |
T665K |
probably benign |
Het |
Adgrf3 |
C |
T |
5: 30,404,146 (GRCm39) |
V369M |
probably benign |
Het |
Als2 |
T |
C |
1: 59,246,927 (GRCm39) |
K571E |
probably benign |
Het |
Amer3 |
A |
C |
1: 34,627,822 (GRCm39) |
D687A |
probably benign |
Het |
Asb14 |
T |
C |
14: 26,637,015 (GRCm39) |
S586P |
probably damaging |
Het |
Catspere2 |
A |
C |
1: 177,925,987 (GRCm39) |
I218L |
probably benign |
Het |
Chmp4b |
A |
G |
2: 154,534,545 (GRCm39) |
E187G |
probably benign |
Het |
Cox6b2 |
T |
C |
7: 4,755,160 (GRCm39) |
D38G |
probably damaging |
Het |
Cpm |
G |
A |
10: 117,504,008 (GRCm39) |
C138Y |
probably damaging |
Het |
Csmd3 |
G |
T |
15: 47,864,874 (GRCm39) |
P785Q |
probably damaging |
Het |
Cstf1 |
A |
G |
2: 172,219,720 (GRCm39) |
Y277C |
probably damaging |
Het |
Cstf2t |
T |
A |
19: 31,061,983 (GRCm39) |
N506K |
probably damaging |
Het |
Dmpk |
C |
G |
7: 18,821,944 (GRCm39) |
L301V |
probably benign |
Het |
Ebf2 |
A |
T |
14: 67,627,106 (GRCm39) |
T265S |
possibly damaging |
Het |
Elmo1 |
T |
C |
13: 20,526,689 (GRCm39) |
F413S |
probably damaging |
Het |
Fbp1 |
C |
T |
13: 63,012,888 (GRCm39) |
V102I |
probably benign |
Het |
Gm19684 |
A |
G |
17: 36,438,364 (GRCm39) |
|
probably benign |
Het |
Gm29106 |
T |
C |
1: 118,106,121 (GRCm39) |
M37T |
probably benign |
Het |
Grem2 |
A |
G |
1: 174,664,379 (GRCm39) |
C157R |
probably damaging |
Het |
Hdac5 |
T |
A |
11: 102,096,450 (GRCm39) |
E252D |
probably damaging |
Het |
Ifitm3 |
A |
T |
7: 140,590,372 (GRCm39) |
F63I |
probably damaging |
Het |
Igkv4-80 |
A |
C |
6: 68,993,649 (GRCm39) |
S81A |
probably benign |
Het |
Irx4 |
G |
T |
13: 73,413,626 (GRCm39) |
R32L |
probably benign |
Het |
Itgb1bp1 |
C |
T |
12: 21,324,849 (GRCm39) |
G69D |
probably damaging |
Het |
Kcnh3 |
A |
G |
15: 99,130,637 (GRCm39) |
D418G |
probably benign |
Het |
Kif1a |
T |
C |
1: 93,006,530 (GRCm39) |
T46A |
probably benign |
Het |
Klk1b26 |
T |
A |
7: 43,665,673 (GRCm39) |
|
probably null |
Het |
Lca5l |
T |
C |
16: 95,960,932 (GRCm39) |
E510G |
possibly damaging |
Het |
Lrriq1 |
A |
G |
10: 103,036,420 (GRCm39) |
I911T |
probably damaging |
Het |
Mios |
T |
G |
6: 8,215,847 (GRCm39) |
S348A |
probably benign |
Het |
Mog |
T |
C |
17: 37,328,381 (GRCm39) |
|
probably null |
Het |
Mtmr7 |
A |
G |
8: 41,007,386 (GRCm39) |
S516P |
probably damaging |
Het |
Nat8f4 |
T |
C |
6: 85,878,122 (GRCm39) |
K134E |
probably benign |
Het |
Nbeal2 |
C |
T |
9: 110,467,835 (GRCm39) |
C451Y |
probably damaging |
Het |
Nkx2-1 |
T |
C |
12: 56,581,724 (GRCm39) |
Y41C |
possibly damaging |
Het |
Nmnat1 |
G |
A |
4: 149,553,584 (GRCm39) |
T176M |
possibly damaging |
Het |
Nrxn3 |
T |
A |
12: 89,227,244 (GRCm39) |
I293N |
probably damaging |
Het |
Or5af2 |
T |
C |
11: 58,708,544 (GRCm39) |
S237P |
probably damaging |
Het |
Or5b97 |
T |
G |
19: 12,878,815 (GRCm39) |
T110P |
probably damaging |
Het |
Or5m8 |
A |
G |
2: 85,822,631 (GRCm39) |
M157V |
probably damaging |
Het |
Osgin1 |
A |
G |
8: 120,172,028 (GRCm39) |
E274G |
probably damaging |
Het |
Otof |
G |
A |
5: 30,551,525 (GRCm39) |
R343W |
probably damaging |
Het |
Pcdha9 |
A |
T |
18: 37,131,398 (GRCm39) |
I156F |
probably damaging |
Het |
Pcsk4 |
A |
G |
10: 80,161,215 (GRCm39) |
I233T |
possibly damaging |
Het |
Pira12 |
T |
G |
7: 3,898,571 (GRCm39) |
Q292H |
probably benign |
Het |
Snap91 |
T |
C |
9: 86,672,207 (GRCm39) |
|
probably null |
Het |
Spata31d1a |
T |
C |
13: 59,850,965 (GRCm39) |
N388D |
probably benign |
Het |
St3gal4 |
A |
G |
9: 34,964,432 (GRCm39) |
V190A |
possibly damaging |
Het |
Sv2b |
T |
C |
7: 74,767,470 (GRCm39) |
N642S |
possibly damaging |
Het |
Svil |
T |
A |
18: 5,056,810 (GRCm39) |
I561K |
probably benign |
Het |
Tmem201 |
A |
T |
4: 149,812,612 (GRCm39) |
Y235N |
possibly damaging |
Het |
Tpx2 |
T |
C |
2: 152,711,644 (GRCm39) |
S60P |
probably benign |
Het |
Trpa1 |
T |
C |
1: 14,980,970 (GRCm39) |
Y144C |
probably benign |
Het |
U90926 |
G |
A |
5: 92,357,879 (GRCm39) |
P91S |
probably benign |
Het |
Utp20 |
G |
T |
10: 88,582,796 (GRCm39) |
H2780Q |
probably benign |
Het |
Vmn1r215 |
T |
G |
13: 23,260,697 (GRCm39) |
F246V |
probably damaging |
Het |
Vmn2r72 |
A |
G |
7: 85,400,338 (GRCm39) |
L237S |
probably damaging |
Het |
Washc5 |
A |
G |
15: 59,215,929 (GRCm39) |
S817P |
probably damaging |
Het |
Zbtb24 |
A |
G |
10: 41,332,614 (GRCm39) |
|
probably null |
Het |
Zfp212 |
G |
A |
6: 47,903,796 (GRCm39) |
R127H |
probably damaging |
Het |
Zfp268 |
C |
A |
4: 145,348,904 (GRCm39) |
Q114K |
probably benign |
Het |
Zfp740 |
G |
T |
15: 102,116,714 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Samd4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00557:Samd4
|
APN |
14 |
47,290,355 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01413:Samd4
|
APN |
14 |
47,254,249 (GRCm39) |
missense |
probably benign |
0.01 |
supermodel
|
UTSW |
14 |
47,253,794 (GRCm39) |
missense |
probably damaging |
1.00 |
B6584:Samd4
|
UTSW |
14 |
47,253,794 (GRCm39) |
missense |
probably damaging |
1.00 |
G1Funyon:Samd4
|
UTSW |
14 |
47,254,135 (GRCm39) |
missense |
probably benign |
|
G4846:Samd4
|
UTSW |
14 |
47,253,776 (GRCm39) |
missense |
probably damaging |
1.00 |
R0096:Samd4
|
UTSW |
14 |
47,301,754 (GRCm39) |
missense |
possibly damaging |
0.88 |
R0122:Samd4
|
UTSW |
14 |
47,254,017 (GRCm39) |
missense |
probably benign |
0.44 |
R0562:Samd4
|
UTSW |
14 |
47,314,966 (GRCm39) |
missense |
probably damaging |
1.00 |
R1247:Samd4
|
UTSW |
14 |
47,325,215 (GRCm39) |
small insertion |
probably benign |
|
R1247:Samd4
|
UTSW |
14 |
47,301,785 (GRCm39) |
critical splice donor site |
probably benign |
|
R1771:Samd4
|
UTSW |
14 |
47,326,532 (GRCm39) |
missense |
probably damaging |
1.00 |
R1902:Samd4
|
UTSW |
14 |
47,311,585 (GRCm39) |
missense |
probably damaging |
1.00 |
R1903:Samd4
|
UTSW |
14 |
47,311,585 (GRCm39) |
missense |
probably damaging |
1.00 |
R2346:Samd4
|
UTSW |
14 |
47,122,299 (GRCm39) |
missense |
probably damaging |
1.00 |
R4155:Samd4
|
UTSW |
14 |
47,290,403 (GRCm39) |
missense |
possibly damaging |
0.74 |
R4498:Samd4
|
UTSW |
14 |
47,333,566 (GRCm39) |
missense |
probably damaging |
1.00 |
R4510:Samd4
|
UTSW |
14 |
47,315,042 (GRCm39) |
missense |
probably benign |
0.05 |
R4511:Samd4
|
UTSW |
14 |
47,315,042 (GRCm39) |
missense |
probably benign |
0.05 |
R4658:Samd4
|
UTSW |
14 |
47,301,703 (GRCm39) |
missense |
probably damaging |
1.00 |
R4871:Samd4
|
UTSW |
14 |
47,303,920 (GRCm39) |
missense |
probably damaging |
1.00 |
R5432:Samd4
|
UTSW |
14 |
47,311,519 (GRCm39) |
missense |
probably benign |
0.09 |
R5687:Samd4
|
UTSW |
14 |
47,254,022 (GRCm39) |
missense |
probably benign |
|
R6035:Samd4
|
UTSW |
14 |
47,325,329 (GRCm39) |
missense |
probably damaging |
1.00 |
R6035:Samd4
|
UTSW |
14 |
47,325,329 (GRCm39) |
missense |
probably damaging |
1.00 |
R6254:Samd4
|
UTSW |
14 |
47,254,088 (GRCm39) |
missense |
probably damaging |
1.00 |
R6366:Samd4
|
UTSW |
14 |
47,311,607 (GRCm39) |
critical splice donor site |
probably null |
|
R6376:Samd4
|
UTSW |
14 |
47,290,419 (GRCm39) |
missense |
probably damaging |
1.00 |
R6944:Samd4
|
UTSW |
14 |
47,254,092 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7035:Samd4
|
UTSW |
14 |
47,326,620 (GRCm39) |
synonymous |
silent |
|
R7148:Samd4
|
UTSW |
14 |
47,254,140 (GRCm39) |
missense |
probably benign |
0.09 |
R7467:Samd4
|
UTSW |
14 |
47,325,313 (GRCm39) |
missense |
probably benign |
0.19 |
R7999:Samd4
|
UTSW |
14 |
47,301,704 (GRCm39) |
missense |
probably damaging |
0.99 |
R8301:Samd4
|
UTSW |
14 |
47,254,135 (GRCm39) |
missense |
probably benign |
|
R8306:Samd4
|
UTSW |
14 |
47,122,374 (GRCm39) |
missense |
probably damaging |
1.00 |
R8351:Samd4
|
UTSW |
14 |
47,338,888 (GRCm39) |
missense |
probably damaging |
1.00 |
R8451:Samd4
|
UTSW |
14 |
47,338,888 (GRCm39) |
missense |
probably damaging |
1.00 |
R9061:Samd4
|
UTSW |
14 |
47,301,728 (GRCm39) |
missense |
probably damaging |
1.00 |
R9103:Samd4
|
UTSW |
14 |
47,254,066 (GRCm39) |
missense |
probably benign |
0.04 |
X0018:Samd4
|
UTSW |
14 |
47,254,153 (GRCm39) |
missense |
possibly damaging |
0.94 |
X0022:Samd4
|
UTSW |
14 |
47,311,474 (GRCm39) |
missense |
probably benign |
0.45 |
Z0001:Samd4
|
UTSW |
14 |
47,253,794 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- ACCCAGGACATCATCGAAGG -3'
(R):5'- GGAAACTCATTCTACGCTCCC -3'
Sequencing Primer
(F):5'- CATCATCGAAGGGGGCAGC -3'
(R):5'- AGCCCTCAGGACTCTTGG -3'
|
Posted On |
2016-05-10 |