Incidental Mutation 'IGL03018:Samd7'
ID407965
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Samd7
Ensembl Gene ENSMUSG00000051860
Gene Namesterile alpha motif domain containing 7
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.108) question?
Stock #IGL03018
Quality Score
Status
Chromosome3
Chromosomal Location30746293-30767174 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 30762145 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Glutamic Acid at position 347 (K347E)
Ref Sequence ENSEMBL: ENSMUSP00000103897 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000108262] [ENSMUST00000172593] [ENSMUST00000174395]
Predicted Effect probably damaging
Transcript: ENSMUST00000108262
AA Change: K347E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103897
Gene: ENSMUSG00000051860
AA Change: K347E

DomainStartEndE-ValueType
SAM 321 388 2.12e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000172593
Predicted Effect probably benign
Transcript: ENSMUST00000174395
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192872
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous knockout reduces the sensitivity of the retinal rods to low-to-moderate flash luminescence. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a T A 5: 8,702,451 V474E probably damaging Het
Casc1 A G 6: 145,183,305 F394S probably damaging Het
Cpsf6 A T 10: 117,367,956 D30E probably benign Het
Edem1 T C 6: 108,829,142 F135L probably damaging Het
Elf3 C T 1: 135,256,065 E239K possibly damaging Het
Farp1 C T 14: 121,102,169 A53V probably benign Het
Gli3 T A 13: 15,660,132 L400Q probably damaging Het
Gm7257 A G 9: 36,433,427 T84A possibly damaging Het
Gtf2i T A 5: 134,289,335 I109F possibly damaging Het
Lat2 A T 5: 134,602,591 I191N probably damaging Het
Mtf1 G A 4: 124,838,663 A505T probably benign Het
Naa30 G T 14: 49,173,240 E208D probably benign Het
Nlrp5 T C 7: 23,417,747 Y299H probably benign Het
Npc1 T A 18: 12,214,379 N195Y probably damaging Het
Olfr1101 T G 2: 86,989,005 Y57S probably damaging Het
Olfr1182 T C 2: 88,446,819 N40D probably damaging Het
Olfr453 A G 6: 42,744,814 Y259C probably damaging Het
Olfr830 T C 9: 18,876,227 M300T probably benign Het
Olfr832 A T 9: 18,944,881 I78F probably damaging Het
Pcdh9 G A 14: 93,015,576 A1217V probably null Het
Pdhb C T 14: 8,171,537 probably benign Het
Pknox2 A G 9: 36,954,697 Y75H probably damaging Het
Ptprn2 T C 12: 117,211,943 S748P probably damaging Het
Ranbp6 A G 19: 29,811,389 V521A probably damaging Het
Selenom A G 11: 3,516,508 D63G probably damaging Het
Sema6d T C 2: 124,659,600 V487A possibly damaging Het
Tapt1 A T 5: 44,204,324 M109K probably damaging Het
Trib1 T C 15: 59,654,484 F301S probably damaging Het
Tspyl1 T C 10: 34,283,116 V279A probably damaging Het
Ubr2 C T 17: 46,954,046 V1184I possibly damaging Het
Urb1 T C 16: 90,788,156 I526V probably benign Het
Vtcn1 A G 3: 100,883,910 D88G probably damaging Het
Yod1 T G 1: 130,718,958 L191V probably benign Het
Other mutations in Samd7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01550:Samd7 APN 3 30765250 missense probably damaging 1.00
IGL01813:Samd7 APN 3 30754286 missense probably benign 0.00
IGL02884:Samd7 APN 3 30756173 missense probably damaging 1.00
IGL03263:Samd7 APN 3 30762153 missense probably damaging 1.00
R0244:Samd7 UTSW 3 30751073 missense probably benign 0.41
R0638:Samd7 UTSW 3 30756521 missense probably benign 0.01
R1490:Samd7 UTSW 3 30758353 missense probably benign 0.01
R2099:Samd7 UTSW 3 30756560 missense probably benign 0.00
R3725:Samd7 UTSW 3 30751134 missense possibly damaging 0.46
R5557:Samd7 UTSW 3 30756620 missense probably benign 0.21
R5899:Samd7 UTSW 3 30756734 missense probably benign 0.00
R6088:Samd7 UTSW 3 30756483 missense probably benign 0.00
R6985:Samd7 UTSW 3 30751123 missense probably benign 0.02
R7066:Samd7 UTSW 3 30751123 missense probably benign 0.02
R7067:Samd7 UTSW 3 30751123 missense probably benign 0.02
R7073:Samd7 UTSW 3 30756482 missense probably benign 0.21
R8007:Samd7 UTSW 3 30758382 missense probably damaging 1.00
Posted On2016-08-02