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) question?
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

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 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

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
AA Change: S350C

PolyPhen 2 Score 0.280 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000122833
Gene: ENSMUSG00000021838
AA Change: S350C

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
AA Change: S42C

PolyPhen 2 Score 0.280 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000115569
Gene: ENSMUSG00000021838
AA Change: S42C

DomainStartEndE-ValueType
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

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: 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 question?
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
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 47,325,215 (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