Incidental Mutation 'IGL00782:Samd1'
ID13905
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Samd1
Ensembl Gene ENSMUSG00000079003
Gene Namesterile alpha motif domain containing 1
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.902) question?
Stock #IGL00782
Quality Score
Status
Chromosome8
Chromosomal Location83997672-84000409 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 83999617 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Serine at position 464 (F464S)
Ref Sequence ENSEMBL: ENSMUSP00000092853 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005606] [ENSMUST00000060357] [ENSMUST00000095228] [ENSMUST00000172548] [ENSMUST00000174570] [ENSMUST00000211558]
Predicted Effect probably benign
Transcript: ENSMUST00000005606
SMART Domains Protein: ENSMUSP00000005606
Gene: ENSMUSG00000005469

DomainStartEndE-ValueType
S_TKc 44 298 2e-107 SMART
S_TK_X 299 344 3.7e-10 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000060357
SMART Domains Protein: ENSMUSP00000062468
Gene: ENSMUSG00000046408

DomainStartEndE-ValueType
low complexity region 11 27 N/A INTRINSIC
Pfam:DUF3314 122 278 3.2e-67 PFAM
low complexity region 282 301 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000095228
AA Change: F464S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000092853
Gene: ENSMUSG00000079003
AA Change: F464S

DomainStartEndE-ValueType
low complexity region 2 29 N/A INTRINSIC
low complexity region 100 230 N/A INTRINSIC
low complexity region 256 277 N/A INTRINSIC
low complexity region 278 301 N/A INTRINSIC
low complexity region 302 323 N/A INTRINSIC
low complexity region 402 423 N/A INTRINSIC
SAM 440 506 2.91e-5 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140120
Predicted Effect probably benign
Transcript: ENSMUST00000172548
SMART Domains Protein: ENSMUSP00000134671
Gene: ENSMUSG00000046408

DomainStartEndE-ValueType
low complexity region 11 27 N/A INTRINSIC
Pfam:DUF3314 120 277 3.8e-75 PFAM
low complexity region 281 300 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000174570
SMART Domains Protein: ENSMUSP00000134486
Gene: ENSMUSG00000046408

DomainStartEndE-ValueType
low complexity region 11 27 N/A INTRINSIC
Pfam:DUF3314 120 243 2.6e-55 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209606
Predicted Effect unknown
Transcript: ENSMUST00000210523
AA Change: F213S
Predicted Effect probably benign
Transcript: ENSMUST00000211558
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 17 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm2 A T 7: 119,573,168 E78V probably damaging Het
Atxn7 A G 14: 14,096,218 I508V possibly damaging Het
Cecr2 A G 6: 120,761,621 N1075S probably benign Het
Clcn3 A G 8: 60,922,792 I689T probably damaging Het
Cntnap3 T C 13: 64,745,805 probably benign Het
Defb11 T C 8: 21,905,494 I56V probably benign Het
Ercc5 A G 1: 44,163,935 N244S probably damaging Het
Gabrg3 A G 7: 57,381,667 S42P probably damaging Het
Hcrtr2 A T 9: 76,230,497 probably benign Het
Jcad T C 18: 4,675,073 L945S probably benign Het
Lrp2 T C 2: 69,501,645 M1589V probably benign Het
Prkg1 C T 19: 30,578,753 probably benign Het
Slc35b3 A G 13: 38,943,140 S213P possibly damaging Het
Taar1 A G 10: 23,920,446 N14S probably benign Het
Tinf2 A G 14: 55,680,464 probably null Het
Utrn T C 10: 12,652,811 N2140S probably benign Het
Zfp780b T C 7: 27,964,761 D123G probably benign Het
Other mutations in Samd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0738:Samd1 UTSW 8 83998996 unclassified probably benign
R2507:Samd1 UTSW 8 83998996 unclassified probably benign
R3890:Samd1 UTSW 8 83997732 unclassified probably benign
R4794:Samd1 UTSW 8 83999717 missense probably damaging 1.00
R4911:Samd1 UTSW 8 83998989 unclassified probably benign
R5261:Samd1 UTSW 8 83998996 unclassified probably benign
R6766:Samd1 UTSW 8 83999732 missense possibly damaging 0.80
Z1088:Samd1 UTSW 8 83998996 unclassified probably benign
Posted On2012-12-06