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) question?
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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