Incidental Mutation 'IGL01813:Samd7'
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ID154307
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: 0.117) question?
Stock #IGL01813
Quality Score
Status
Chromosome3
Chromosomal Location30746293-30767174 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 30754286 bp
ZygosityHeterozygous
Amino Acid Change Proline to Serine at position 83 (P83S)
Ref Sequence ENSEMBL: ENSMUSP00000133333 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000108262] [ENSMUST00000172593] [ENSMUST00000174395]
Predicted Effect probably benign
Transcript: ENSMUST00000108262
AA Change: P83S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000103897
Gene: ENSMUSG00000051860
AA Change: P83S

DomainStartEndE-ValueType
SAM 321 388 2.12e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000172593
AA Change: P83S

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik G A 3: 36,928,520 S778N possibly damaging Het
Abcb11 T A 2: 69,287,592 probably benign Het
Adgrb2 T C 4: 130,012,566 V929A probably benign Het
Aldh2 T C 5: 121,572,073 I400V probably benign Het
Atxn2l T C 7: 126,500,253 D84G probably damaging Het
Avpr1a T A 10: 122,449,011 N69K probably damaging Het
BC022687 C T 12: 112,815,559 T272M probably damaging Het
BC034090 G A 1: 155,226,339 Q60* probably null Het
Bub3 T C 7: 131,568,633 S295P probably benign Het
Cacna1b T C 2: 24,609,890 S161G probably damaging Het
Col6a4 T A 9: 106,077,253 S296C probably damaging Het
Cyp4f15 G A 17: 32,686,157 R38H probably benign Het
Dync2h1 T C 9: 7,122,799 I2052M probably damaging Het
Gm11627 T C 11: 102,578,808 probably benign Het
Jmjd8 A T 17: 25,829,238 probably null Het
Kmt2c A G 5: 25,290,804 V629A possibly damaging Het
Kremen1 T C 11: 5,199,667 T335A probably benign Het
Olfr109 A G 17: 37,466,758 E184G probably damaging Het
Olfr282 A G 15: 98,437,649 Y60C possibly damaging Het
Oosp2 T C 19: 11,651,483 T85A probably benign Het
Pex5l T C 3: 33,082,055 E5G probably benign Het
Pigk A T 3: 152,742,519 Q173L probably damaging Het
Pik3c2g T A 6: 139,622,409 N174K possibly damaging Het
Plb1 C T 5: 32,329,085 H893Y probably damaging Het
Pus7 T C 5: 23,760,304 probably benign Het
R3hdm1 G A 1: 128,175,233 probably null Het
Supt5 T A 7: 28,323,975 Y293F probably damaging Het
Tbc1d30 T C 10: 121,267,051 D692G probably benign Het
Tmpo G A 10: 91,163,242 R228C probably benign Het
Tnn A T 1: 160,088,438 H1236Q probably damaging Het
Ubr3 T C 2: 69,951,570 I667T probably benign Het
Vmn1r183 T A 7: 24,055,560 F263I probably benign Het
Other mutations in Samd7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01550:Samd7 APN 3 30765250 missense probably damaging 1.00
IGL02884:Samd7 APN 3 30756173 missense probably damaging 1.00
IGL03018:Samd7 APN 3 30762145 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
Posted On2014-02-04