Incidental Mutation 'IGL01466:Samd14'
ID88119
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: 0.174) question?
Stock #IGL01466
Quality Score
Status
Chromosome11
Chromosomal Location95009879-95026087 bp(+) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) G to T at 95023255 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: ENSMUST00000126730
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128512
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acr A G 15: 89,573,994 N293D probably benign Het
Ankrd49 A G 9: 14,781,349 L173P probably damaging Het
Ccdc152 A G 15: 3,293,847 probably benign Het
Cdh3 G T 8: 106,536,595 R92L possibly damaging Het
Dnajc10 A T 2: 80,321,287 R137S probably benign Het
Dusp27 T G 1: 166,100,504 D513A probably damaging Het
Htra2 A G 6: 83,054,323 L35P probably damaging Het
Il23r A T 6: 67,426,642 M425K probably benign Het
Nfkb2 G T 19: 46,308,016 R241L probably damaging Het
Nup205 A G 6: 35,199,959 D630G probably benign Het
Olfr344 T A 2: 36,568,742 L48H probably damaging Het
Peli2 T C 14: 48,256,457 Y379H probably damaging Het
Plekhg6 G T 6: 125,372,624 probably benign Het
Setd7 A T 3: 51,521,309 *367R probably null Het
Slc26a8 A G 17: 28,654,948 V355A probably benign Het
Slc46a2 T A 4: 59,911,926 K429* probably null Het
Tspan32 T C 7: 143,014,954 probably benign Het
Unc80 T C 1: 66,622,486 V1690A probably benign Het
Ush2a C A 1: 188,911,622 Q4394K probably benign Het
Zfp277 C A 12: 40,378,826 G174V probably benign Het
Other mutations in Samd14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01071:Samd14 APN 11 95021468 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
Posted On2013-11-18