Incidental Mutation 'IGL01071:Samd14'
ID52227
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Samd14
Ensembl Gene ENSMUSG00000047181
Gene Namesterile alpha motif domain containing 14
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.078) question?
Stock #IGL01071
Quality Score
Status
Chromosome11
Chromosomal Location95009879-95026087 bp(+) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) G to A at 95021468 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000123361 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038431] [ENSMUST00000055947] [ENSMUST00000124735]
Predicted Effect probably benign
Transcript: ENSMUST00000038431
SMART Domains Protein: ENSMUSP00000041447
Gene: ENSMUSG00000038967

DomainStartEndE-ValueType
Pfam:BCDHK_Adom3 30 192 3.8e-52 PFAM
HATPase_c 240 364 9.32e-14 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000055947
SMART Domains Protein: ENSMUSP00000062231
Gene: ENSMUSG00000047181

DomainStartEndE-ValueType
low complexity region 42 57 N/A INTRINSIC
low complexity region 138 153 N/A INTRINSIC
low complexity region 244 260 N/A INTRINSIC
low complexity region 276 289 N/A INTRINSIC
SAM 323 389 7.96e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000124735
SMART Domains Protein: ENSMUSP00000123361
Gene: ENSMUSG00000047181

DomainStartEndE-ValueType
SCOP:d1jj2w_ 21 62 1e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128512
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930544G11Rik A C 6: 65,953,153 D124A probably damaging Het
Arhgef17 C A 7: 100,885,700 V1137L probably damaging Het
Birc6 A T 17: 74,631,701 N2701Y probably damaging Het
Birc6 A G 17: 74,566,132 D462G possibly damaging Het
Cadps C T 14: 12,509,091 probably null Het
Camk2a T C 18: 60,980,156 probably null Het
Capn10 T A 1: 92,945,075 W508R probably damaging Het
Cntn3 A T 6: 102,420,251 probably null Het
Crisp4 A G 1: 18,137,007 V19A probably benign Het
Depdc1b A T 13: 108,357,441 Y121F probably benign Het
Dsg1b T A 18: 20,409,215 S926R probably damaging Het
Eml6 A G 11: 29,850,816 probably null Het
Fam208a T A 14: 27,442,622 probably null Het
Gm26938 A C 5: 139,808,473 V117G possibly damaging Het
Keg1 T A 19: 12,719,000 Y183N probably damaging Het
Mpi A T 9: 57,550,592 I109N probably damaging Het
Olfr1217 A G 2: 89,023,175 V276A probably benign Het
Olfr305 T C 7: 86,363,560 K259R possibly damaging Het
Olfr53 C T 7: 140,652,914 H312Y possibly damaging Het
Olfr530 C T 7: 140,373,185 A142T probably benign Het
Pcdhb20 A G 18: 37,504,685 E88G possibly damaging Het
Pde6b G A 5: 108,419,715 W290* probably null Het
Phf20 T A 2: 156,294,088 probably null Het
Pkd1l1 A T 11: 8,848,921 H1830Q probably benign Het
Proc T C 18: 32,123,717 D299G probably damaging Het
Psmd14 A G 2: 61,800,063 T306A probably benign Het
Rab32 G A 10: 10,557,847 A81V probably damaging Het
Sh3rf1 T A 8: 61,225,959 C12S probably damaging Het
Sipa1l3 C T 7: 29,324,220 V663M possibly damaging Het
Slc2a5 A G 4: 150,120,733 probably benign Het
Tbkbp1 T C 11: 97,149,562 I9V probably damaging Het
Trip10 C A 17: 57,254,332 R196S possibly damaging Het
Vav1 T C 17: 57,299,176 Y267H probably benign Het
Wdr1 T C 5: 38,530,067 K207R probably benign Het
Other mutations in Samd14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01466:Samd14 APN 11 95023255 unclassified probably benign
IGL02212:Samd14 APN 11 95023350 missense probably damaging 0.98
R1835:Samd14 UTSW 11 95023600 missense probably damaging 1.00
R2004:Samd14 UTSW 11 95023284 missense probably damaging 0.99
R2172:Samd14 UTSW 11 95014391 missense probably benign
R4584:Samd14 UTSW 11 95021535 splice site probably null
R5133:Samd14 UTSW 11 95021583 missense probably damaging 0.98
R6852:Samd14 UTSW 11 95021454 missense probably damaging 1.00
R7563:Samd14 UTSW 11 95021413 missense probably benign 0.03
R7923:Samd14 UTSW 11 95023458 critical splice acceptor site probably null
R8215:Samd14 UTSW 11 95014387 missense probably benign
Posted On2013-06-21