Incidental Mutation 'R1247:Samd4'
ID |
152173 |
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 |
039314-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.784)
|
Stock # |
R1247 (G1)
|
Quality Score |
160 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
47120414-47343274 bp(+) (GRCm39) |
Type of Mutation |
small insertion (1 aa in frame mutation) |
DNA Base Change (assembly) |
G to GAAA
at 47325215 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
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
|
SMART Domains |
Protein: ENSMUSP00000022386 Gene: ENSMUSG00000021838
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 |
probably benign
Transcript: ENSMUST00000100672
|
SMART Domains |
Protein: ENSMUSP00000098237 Gene: ENSMUSG00000021838
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
|
SMART Domains |
Protein: ENSMUSP00000122833 Gene: ENSMUSG00000021838
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
|
SMART Domains |
Protein: ENSMUSP00000115569 Gene: ENSMUSG00000021838
Domain | Start | End | E-Value | Type |
low complexity region
|
36 |
54 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130046
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000137543
|
SMART Domains |
Protein: ENSMUSP00000114621 Gene: ENSMUSG00000021838
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: ENSMUST00000228404
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000227848
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.5%
|
Validation Efficiency |
|
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: 10 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930527J03Rik |
ACCC |
ACC |
1: 178,276,503 (GRCm38) |
|
noncoding transcript |
Het |
Brca2 |
C |
A |
5: 150,464,739 (GRCm39) |
A1501D |
probably damaging |
Het |
Ctbp2 |
G |
C |
7: 132,596,918 (GRCm39) |
R722G |
probably benign |
Het |
Cyp3a44 |
A |
G |
5: 145,728,477 (GRCm39) |
F249S |
probably damaging |
Het |
Huwe1 |
G |
C |
X: 150,684,566 (GRCm39) |
S2199T |
probably benign |
Het |
Pds5b |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
5: 150,698,819 (GRCm39) |
|
probably benign |
Het |
Slc35e1 |
T |
C |
8: 73,246,415 (GRCm39) |
|
probably benign |
Het |
Sox15 |
T |
C |
11: 69,547,320 (GRCm39) |
F190S |
probably benign |
Het |
Syne2 |
G |
A |
12: 76,014,264 (GRCm39) |
A3153T |
probably benign |
Het |
Tbr1 |
C |
T |
2: 61,641,962 (GRCm39) |
P409L |
possibly damaging |
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 |
47,301,785 (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 |
R4991:Samd4
|
UTSW |
14 |
47,311,467 (GRCm39) |
missense |
probably damaging |
0.97 |
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'- AGACCCACAGGTTGGACTAGACAAG -3'
(R):5'- GCTGGTTGGAGCTGACAAATCCAC -3'
Sequencing Primer
(F):5'- atttgagtgctgccccc -3'
(R):5'- ACTGGTGCCCAGGAGAC -3'
|
Posted On |
2014-01-29 |