Incidental Mutation 'IGL01413:Samd4'
ID80121
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Samd4
Ensembl Gene ENSMUSG00000021838
Gene Namesterile alpha motif domain containing 4
Synonyms4933436G17Rik, 1700024G08Rik, Smaug, 1700111L17Rik
Accession Numbers

Genbank: NM_001037221, NM_028966, NM_001163433

Is this an essential gene? Probably essential (E-score: 0.842) question?
Stock #IGL01413
Quality Score
Status
Chromosome14
Chromosomal Location46882854-47105815 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 47016792 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 137 (T137A)
Ref Sequence ENSEMBL: ENSMUSP00000153846 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022386] [ENSMUST00000100672] [ENSMUST00000125113] [ENSMUST00000137543] [ENSMUST00000228404]
Predicted Effect probably benign
Transcript: ENSMUST00000022386
AA Change: T238A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000022386
Gene: ENSMUSG00000021838
AA Change: T238A

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
AA Change: T238A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000098237
Gene: ENSMUSG00000021838
AA Change: T238A

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: T137A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000122833
Gene: ENSMUSG00000021838
AA Change: T137A

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: ENSMUST00000137543
AA Change: T238A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000114621
Gene: ENSMUSG00000021838
AA Change: T238A

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
AA Change: T137A

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
Coding Region Coverage
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010300C02Rik G A 1: 37,612,306 A1160V possibly damaging Het
Acaa2 A T 18: 74,805,944 probably benign Het
Adgrl1 T A 8: 83,929,857 I268N probably damaging Het
Asic1 T A 15: 99,672,117 N106K probably damaging Het
Ass1 A G 2: 31,476,922 Y11C probably damaging Het
Casc1 A T 6: 145,175,086 M669K probably damaging Het
Cd44 T C 2: 102,814,287 E448G probably damaging Het
Cdca2 A G 14: 67,677,894 S639P probably damaging Het
Cfap221 T A 1: 119,985,071 H91L possibly damaging Het
Cmtr1 T C 17: 29,697,982 S618P probably benign Het
Cnga4 A T 7: 105,404,962 M46L probably benign Het
Col4a4 C T 1: 82,471,248 G1207E unknown Het
Cthrc1 T A 15: 39,080,499 L58Q possibly damaging Het
Cyb561a3 T A 19: 10,585,246 H83Q probably damaging Het
Dlgap1 C A 17: 70,516,074 A18E probably benign Het
Dnah2 G A 11: 69,432,964 L3707F probably damaging Het
Duox1 A G 2: 122,320,710 N289D probably benign Het
Fbrsl1 T A 5: 110,378,248 E443D probably damaging Het
Fgfr1 T A 8: 25,562,223 C288* probably null Het
Gabbr1 A G 17: 37,062,706 N498S possibly damaging Het
Gja10 T C 4: 32,602,070 K105E probably damaging Het
Glra4 C T X: 136,762,744 R352H probably benign Het
Gm13088 A T 4: 143,655,317 F270I probably benign Het
Gm19402 G T 10: 77,690,489 probably benign Het
Hadha T A 5: 30,141,027 M200L probably benign Het
Hoxc9 T A 15: 102,984,000 M215K probably damaging Het
Huwe1 A T X: 151,882,680 Q1231L possibly damaging Het
Ifi214 T A 1: 173,529,429 N36I probably damaging Het
Il17ra A G 6: 120,475,581 N242D probably benign Het
Il1rl1 A T 1: 40,446,169 K260N possibly damaging Het
Lhx6 C A 2: 36,103,516 A57S probably benign Het
Mdh2 T A 5: 135,786,025 I116N probably damaging Het
Met T C 6: 17,558,896 probably benign Het
Mgam A G 6: 40,661,277 D387G probably damaging Het
Myo3a T C 2: 22,297,600 S287P probably benign Het
Nol8 T G 13: 49,659,952 N140K possibly damaging Het
Nrap C A 19: 56,389,391 A56S probably damaging Het
Nuggc A G 14: 65,638,581 T548A probably benign Het
Olfr418 T A 1: 173,270,708 C178S probably damaging Het
Olfr94 A T 17: 37,197,663 F102I possibly damaging Het
Pcdh11x A G X: 120,399,585 T242A probably benign Het
Pcdhb8 A G 18: 37,355,976 N236D probably damaging Het
Pdzph1 T C 17: 58,879,152 I1215V possibly damaging Het
Plekha8 C T 6: 54,622,276 T265I probably benign Het
Pou4f2 T A 8: 78,435,105 I290F probably damaging Het
Ptpn3 G A 4: 57,270,156 T2I probably damaging Het
Rab28 A T 5: 41,698,447 D68E probably damaging Het
Rbl1 T C 2: 157,152,892 probably null Het
Serpinb1b T G 13: 33,093,859 D358E probably damaging Het
Serpinb9c G A 13: 33,151,804 L222F probably damaging Het
Slc24a3 A G 2: 145,640,249 D609G probably damaging Het
Slc25a40 A C 5: 8,453,298 *338Y probably null Het
Spef2 T A 15: 9,676,290 I732L probably benign Het
Srrm2 T C 17: 23,816,025 probably benign Het
Ssx9 A G X: 8,749,453 E75G probably benign Het
Stmnd1 A T 13: 46,299,681 I278L probably benign Het
Strap C A 6: 137,745,504 probably benign Het
Supt16 C T 14: 52,177,032 E438K probably benign Het
Tcf4 A C 18: 69,655,019 E160D probably damaging Het
Themis3 A G 17: 66,556,097 Y289H probably benign Het
Tmem87a T C 2: 120,385,870 T180A probably benign Het
Trappc10 A G 10: 78,197,844 V963A possibly damaging Het
Trav19 G T 14: 53,845,615 C49F probably damaging Het
Trim30c A G 7: 104,382,334 S425P possibly damaging Het
Ubap1 A T 4: 41,387,333 R414S probably benign Het
Usp9x A G X: 13,151,340 S1696G probably benign Het
Vipas39 G A 12: 87,249,397 T274I probably benign Het
Vmn1r185 A T 7: 26,611,621 V153E probably damaging Het
Vmn2r124 A G 17: 18,062,565 T174A probably benign Het
Wdr59 T A 8: 111,501,074 S124C probably benign Het
Xirp2 A T 2: 67,509,926 D837V probably damaging Het
Zfp185 A G X: 73,018,391 D403G possibly damaging Het
Zfp516 A T 18: 82,987,670 K900* probably null Het
Other mutations in Samd4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00557:Samd4 APN 14 47052898 missense probably damaging 1.00
supermodel UTSW 14 47016337 missense probably damaging 1.00
B6584:Samd4 UTSW 14 47016337 missense probably damaging 1.00
G4846:Samd4 UTSW 14 47016319 missense probably damaging 1.00
R0096:Samd4 UTSW 14 47064297 missense possibly damaging 0.88
R0122:Samd4 UTSW 14 47016560 missense probably benign 0.44
R0562:Samd4 UTSW 14 47077509 missense probably damaging 1.00
R1247:Samd4 UTSW 14 47064328 critical splice donor site probably benign
R1247:Samd4 UTSW 14 47087758 small insertion probably benign
R1771:Samd4 UTSW 14 47089075 missense probably damaging 1.00
R1902:Samd4 UTSW 14 47074128 missense probably damaging 1.00
R1903:Samd4 UTSW 14 47074128 missense probably damaging 1.00
R2346:Samd4 UTSW 14 46884842 missense probably damaging 1.00
R4155:Samd4 UTSW 14 47052946 missense possibly damaging 0.74
R4498:Samd4 UTSW 14 47096109 missense probably damaging 1.00
R4510:Samd4 UTSW 14 47077585 missense probably benign 0.05
R4511:Samd4 UTSW 14 47077585 missense probably benign 0.05
R4658:Samd4 UTSW 14 47064246 missense probably damaging 1.00
R4871:Samd4 UTSW 14 47066463 missense probably damaging 1.00
R4991:Samd4 UTSW 14 47074010 missense probably damaging 0.97
R5432:Samd4 UTSW 14 47074062 missense probably benign 0.09
R5687:Samd4 UTSW 14 47016565 missense probably benign
R6035:Samd4 UTSW 14 47087872 missense probably damaging 1.00
R6035:Samd4 UTSW 14 47087872 missense probably damaging 1.00
R6254:Samd4 UTSW 14 47016631 missense probably damaging 1.00
R6366:Samd4 UTSW 14 47074150 critical splice donor site probably null
R6376:Samd4 UTSW 14 47052962 missense probably damaging 1.00
R6944:Samd4 UTSW 14 47016635 missense possibly damaging 0.94
R7035:Samd4 UTSW 14 47089163 synonymous silent
R7148:Samd4 UTSW 14 47016683 missense probably benign 0.09
R7467:Samd4 UTSW 14 47087856 missense probably benign 0.19
R7999:Samd4 UTSW 14 47064247 missense probably damaging 0.99
R8301:Samd4 UTSW 14 47016678 missense probably benign
R8306:Samd4 UTSW 14 46884917 missense probably damaging 1.00
R8351:Samd4 UTSW 14 47101431 missense probably damaging 1.00
R8451:Samd4 UTSW 14 47101431 missense probably damaging 1.00
X0018:Samd4 UTSW 14 47016696 missense possibly damaging 0.94
X0022:Samd4 UTSW 14 47074017 missense probably benign 0.45
Z0001:Samd4 UTSW 14 47016337 missense probably damaging 1.00
Posted On2013-11-05