Incidental Mutation 'IGL03172:Samd3'
ID 411861
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 # IGL03172
Quality Score
Status
Chromosome 10
Chromosomal Location 26105605-26148070 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 26106064 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 14 (V14E)
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 damaging
Transcript: ENSMUST00000060716
AA Change: V14E

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000057805
Gene: ENSMUSG00000051354
AA Change: V14E

DomainStartEndE-ValueType
SAM 1 66 3e-7 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000164660
AA Change: V14E

PolyPhen 2 Score 0.818 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000129054
Gene: ENSMUSG00000051354
AA Change: V14E

DomainStartEndE-ValueType
SAM 1 66 3e-7 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000218301
AA Change: V41E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219318
Predicted Effect probably damaging
Transcript: ENSMUST00000220219
AA Change: V14E

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930111J21Rik1 T C 11: 48,839,003 (GRCm39) H528R probably damaging Het
A530053G22Rik A T 6: 60,379,047 (GRCm39) noncoding transcript Het
Aagab A G 9: 63,542,676 (GRCm39) probably benign Het
Aknad1 A T 3: 108,688,519 (GRCm39) I616F possibly damaging Het
Ap2a1 A C 7: 44,553,479 (GRCm39) D629E probably benign Het
Apc2 C A 10: 80,149,220 (GRCm39) Q1425K probably damaging Het
Asf1b A C 8: 84,694,542 (GRCm39) H102P probably benign Het
Celf6 C T 9: 59,489,565 (GRCm39) A90V probably damaging Het
Chrna2 A T 14: 66,379,688 (GRCm39) Q9L probably benign Het
Csnk1g3 A G 18: 54,086,356 (GRCm39) I420M possibly damaging Het
Eml3 T C 19: 8,916,543 (GRCm39) probably benign Het
Epn3 T C 11: 94,382,456 (GRCm39) N508S possibly damaging Het
Fam120a T C 13: 49,063,812 (GRCm39) Y608C probably damaging Het
Fbn1 A C 2: 125,162,888 (GRCm39) C2133G possibly damaging Het
Fhl5 A G 4: 25,211,309 (GRCm39) F128L probably damaging Het
Fn1 T C 1: 71,680,421 (GRCm39) N428S probably damaging Het
Fxr2 T C 11: 69,540,665 (GRCm39) probably null Het
Gabrp T C 11: 33,504,388 (GRCm39) Y309C probably damaging Het
Golga2 A G 2: 32,182,168 (GRCm39) I50V probably benign Het
Ifi203 C T 1: 173,764,158 (GRCm39) G105R possibly damaging Het
Itgav A T 2: 83,596,190 (GRCm39) Q201L possibly damaging Het
Jade2 T C 11: 51,716,198 (GRCm39) T336A probably damaging Het
Kdm4b A G 17: 56,708,649 (GRCm39) D996G probably damaging Het
Me2 A G 18: 73,903,797 (GRCm39) I557T probably benign Het
Memo1 A C 17: 74,551,996 (GRCm39) L100R probably damaging Het
Mrps2 A G 2: 28,359,818 (GRCm39) N225S probably damaging Het
Ndufa2 A G 18: 36,877,278 (GRCm39) probably null Het
Or2g7 G T 17: 38,378,275 (GRCm39) C71F probably damaging Het
Or7g19 G A 9: 18,856,757 (GRCm39) S271N probably benign Het
Pak5 G T 2: 135,940,310 (GRCm39) Y501* probably null Het
Pot1b A T 17: 56,002,206 (GRCm39) F123I possibly damaging Het
Rev3l T C 10: 39,700,786 (GRCm39) V1761A probably benign Het
Slc4a8 G A 15: 100,697,598 (GRCm39) A605T probably benign Het
Smgc A T 15: 91,744,642 (GRCm39) D333V probably damaging Het
Spata4 A G 8: 55,055,440 (GRCm39) I147V probably benign Het
Ttc23l G A 15: 10,537,652 (GRCm39) S206L probably benign Het
Vmn2r73 G A 7: 85,507,495 (GRCm39) H606Y probably benign Het
Vsig8 A G 1: 172,387,916 (GRCm39) N2S probably damaging Het
Wdr17 A C 8: 55,114,515 (GRCm39) I667R probably damaging Het
Yif1b A G 7: 28,937,873 (GRCm39) probably null Het
Zbtb5 A T 4: 44,994,003 (GRCm39) H460Q possibly damaging Het
Zdhhc21 G A 4: 82,724,564 (GRCm39) probably benign Het
Zfp944 A T 17: 22,559,018 (GRCm39) H76Q probably damaging Het
Zkscan1 A G 5: 138,092,264 (GRCm39) Q146R probably benign Het
Other mutations in Samd3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00532:Samd3 APN 10 26,127,744 (GRCm39) missense probably damaging 1.00
IGL00754:Samd3 APN 10 26,120,425 (GRCm39) missense probably benign 0.19
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
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 2016-08-02