Incidental Mutation 'IGL00754:Samd3'
ID 13906
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Samd3
Ensembl Gene ENSMUSG00000051354
Gene Name sterile alpha motif domain containing 3
Synonyms LOC268288
Accession Numbers
Essential gene? Probably non essential (E-score: 0.177) question?
Stock # IGL00754
Quality Score
Status
Chromosome 10
Chromosomal Location 26105605-26148070 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 26120425 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 140 (T140A)
Ref Sequence ENSEMBL: ENSMUSP00000151558 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060716] [ENSMUST00000164660] [ENSMUST00000218301] [ENSMUST00000220219]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000060716
AA Change: T140A

PolyPhen 2 Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000057805
Gene: ENSMUSG00000051354
AA Change: T140A

DomainStartEndE-ValueType
SAM 1 66 3e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000164660
AA Change: T140A

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000129054
Gene: ENSMUSG00000051354
AA Change: T140A

DomainStartEndE-ValueType
SAM 1 66 3e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000218301
AA Change: T167A

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219318
Predicted Effect probably benign
Transcript: ENSMUST00000220219
AA Change: T140A

PolyPhen 2 Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahi1 G A 10: 20,848,040 (GRCm39) G483R probably damaging Het
Ano1 T C 7: 144,150,968 (GRCm39) I816V probably damaging Het
Aprt T C 8: 123,302,232 (GRCm39) Q77R probably benign Het
Bcas3 T A 11: 85,386,649 (GRCm39) probably benign Het
Casp8ap2 A G 4: 32,641,036 (GRCm39) M697V probably benign Het
Cgas G A 9: 78,342,770 (GRCm39) P344L probably damaging Het
Chrnd A C 1: 87,123,506 (GRCm39) E348A probably benign Het
Ctnnbl1 A T 2: 157,661,461 (GRCm39) S324C possibly damaging Het
Dgkb C A 12: 38,488,567 (GRCm39) N644K probably benign Het
Dnajc13 A T 9: 104,051,697 (GRCm39) L1720* probably null Het
Ehbp1 A G 11: 22,197,967 (GRCm39) probably benign Het
Eif1b G T 9: 120,323,686 (GRCm39) C94F probably benign Het
Fmnl3 G A 15: 99,220,551 (GRCm39) T577I probably damaging Het
Gm28042 G A 2: 119,860,837 (GRCm39) G96R probably damaging Het
Hcrtr1 A G 4: 130,031,026 (GRCm39) V86A probably damaging Het
Klrc3 A T 6: 129,618,389 (GRCm39) S131R probably damaging Het
Mboat4 A G 8: 34,591,708 (GRCm39) T382A probably benign Het
Oosp1 A T 19: 11,645,069 (GRCm39) H198Q possibly damaging Het
Parp14 T C 16: 35,659,741 (GRCm39) D1627G probably benign Het
Pdcd11 T A 19: 47,092,221 (GRCm39) F406I possibly damaging Het
Ppara T C 15: 85,661,843 (GRCm39) L28S probably damaging Het
Sf3b1 A G 1: 55,026,645 (GRCm39) F1255L probably damaging Het
Stard6 T A 18: 70,616,559 (GRCm39) S73T probably benign Het
Tnip2 T C 5: 34,656,643 (GRCm39) I221V probably benign Het
Ttn A G 2: 76,612,429 (GRCm39) I8859T possibly damaging Het
Ube3b T C 5: 114,553,348 (GRCm39) S907P possibly damaging Het
Utp25 G T 1: 192,797,309 (GRCm39) N514K probably damaging Het
Utrn A G 10: 12,539,236 (GRCm39) V1927A probably benign Het
Zfp945 T C 17: 23,070,931 (GRCm39) probably benign Het
Other mutations in Samd3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00532:Samd3 APN 10 26,127,744 (GRCm39) missense probably damaging 1.00
IGL01672:Samd3 APN 10 26,146,067 (GRCm39) missense possibly damaging 0.94
IGL02211:Samd3 APN 10 26,109,455 (GRCm39) missense probably damaging 1.00
IGL02397:Samd3 APN 10 26,109,474 (GRCm39) missense possibly damaging 0.85
IGL02755:Samd3 APN 10 26,120,475 (GRCm39) missense probably damaging 1.00
IGL02885:Samd3 APN 10 26,147,762 (GRCm39) missense probably benign 0.43
IGL03115:Samd3 APN 10 26,147,606 (GRCm39) missense probably damaging 1.00
IGL03157:Samd3 APN 10 26,139,740 (GRCm39) missense probably benign 0.05
IGL03172:Samd3 APN 10 26,106,064 (GRCm39) missense probably damaging 1.00
BB006:Samd3 UTSW 10 26,127,813 (GRCm39) missense probably damaging 1.00
BB016:Samd3 UTSW 10 26,127,813 (GRCm39) missense probably damaging 1.00
R0034:Samd3 UTSW 10 26,147,398 (GRCm39) splice site probably benign
R0081:Samd3 UTSW 10 26,147,399 (GRCm39) splice site probably benign
R0197:Samd3 UTSW 10 26,147,752 (GRCm39) missense possibly damaging 0.77
R0566:Samd3 UTSW 10 26,120,396 (GRCm39) missense possibly damaging 0.83
R0632:Samd3 UTSW 10 26,120,393 (GRCm39) missense possibly damaging 0.86
R0782:Samd3 UTSW 10 26,146,138 (GRCm39) missense probably damaging 0.97
R0834:Samd3 UTSW 10 26,147,725 (GRCm39) missense probably benign 0.01
R1106:Samd3 UTSW 10 26,147,689 (GRCm39) missense possibly damaging 0.57
R1844:Samd3 UTSW 10 26,127,672 (GRCm39) missense probably damaging 1.00
R1907:Samd3 UTSW 10 26,147,754 (GRCm39) nonsense probably null
R1929:Samd3 UTSW 10 26,139,884 (GRCm39) splice site probably benign
R2925:Samd3 UTSW 10 26,127,785 (GRCm39) missense probably benign 0.37
R5104:Samd3 UTSW 10 26,139,686 (GRCm39) missense possibly damaging 0.61
R5736:Samd3 UTSW 10 26,146,070 (GRCm39) missense probably damaging 1.00
R7120:Samd3 UTSW 10 26,106,864 (GRCm39) missense possibly damaging 0.77
R7437:Samd3 UTSW 10 26,146,004 (GRCm39) missense possibly damaging 0.78
R7510:Samd3 UTSW 10 26,106,006 (GRCm39) missense probably benign
R7599:Samd3 UTSW 10 26,139,711 (GRCm39) missense probably benign 0.00
R7801:Samd3 UTSW 10 26,139,770 (GRCm39) missense possibly damaging 0.57
R7806:Samd3 UTSW 10 26,120,425 (GRCm39) missense probably benign 0.19
R7820:Samd3 UTSW 10 26,109,416 (GRCm39) splice site probably null
R7929:Samd3 UTSW 10 26,127,813 (GRCm39) missense probably damaging 1.00
R8298:Samd3 UTSW 10 26,121,468 (GRCm39) missense probably damaging 1.00
R8979:Samd3 UTSW 10 26,120,428 (GRCm39) missense possibly damaging 0.93
R9381:Samd3 UTSW 10 26,147,643 (GRCm39) missense probably benign 0.08
Posted On 2012-12-06