Incidental Mutation 'IGL02526:Them6'
ID297116
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Them6
Ensembl Gene ENSMUSG00000056665
Gene Namethioesterase superfamily member 6
Synonyms4930572J05Rik
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL02526
Quality Score
Status
Chromosome15
Chromosomal Location74721204-74724639 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 74721655 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Serine at position 121 (T121S)
Ref Sequence ENSEMBL: ENSMUSP00000069692 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023265] [ENSMUST00000070923] [ENSMUST00000190433]
Predicted Effect probably benign
Transcript: ENSMUST00000023265
SMART Domains Protein: ENSMUSP00000023265
Gene: ENSMUSG00000022598

DomainStartEndE-ValueType
LU 21 107 7.4e-9 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000070923
AA Change: T121S

PolyPhen 2 Score 0.750 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000069692
Gene: ENSMUSG00000056665
AA Change: T121S

DomainStartEndE-ValueType
transmembrane domain 4 26 N/A INTRINSIC
Pfam:4HBT_2 54 185 5.8e-26 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188070
Predicted Effect probably benign
Transcript: ENSMUST00000190433
SMART Domains Protein: ENSMUSP00000141013
Gene: ENSMUSG00000022596

DomainStartEndE-ValueType
low complexity region 3 15 N/A INTRINSIC
LU 23 109 6.93e-2 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad10 A G 5: 121,646,860 V231A probably damaging Het
Aff4 T C 11: 53,406,682 probably benign Het
Ano2 G A 6: 125,872,751 probably null Het
Aspm A G 1: 139,489,719 E2818G probably benign Het
Atp2a3 C A 11: 72,975,339 H262N probably benign Het
Caprin1 T C 2: 103,775,603 probably benign Het
Clca2 T C 3: 145,088,018 H292R probably benign Het
Dnah11 G A 12: 118,179,618 T430M possibly damaging Het
Fgd6 A G 10: 94,100,511 N902S probably benign Het
Grm3 A G 5: 9,589,847 I66T probably damaging Het
H13 T A 2: 152,688,682 F158L probably damaging Het
Kcnb2 A G 1: 15,710,755 E617G probably damaging Het
Kcnh7 T C 2: 62,850,437 S269G possibly damaging Het
Krit1 T A 5: 3,822,103 I376N probably damaging Het
Lonrf2 T A 1: 38,800,710 M435L probably benign Het
Map2 A T 1: 66,380,717 D69V possibly damaging Het
Mon1b G T 8: 113,638,823 R261L possibly damaging Het
Myh3 C T 11: 67,087,545 P453S probably benign Het
Olfr557 T A 7: 102,699,084 V282D possibly damaging Het
Pi4k2b T C 5: 52,767,739 F442L probably damaging Het
Pla2g12b T A 10: 59,416,453 C49S probably damaging Het
Polr2a C T 11: 69,739,467 R1258Q probably benign Het
Prmt8 A C 6: 127,711,823 S195A probably damaging Het
Pwp1 T A 10: 85,882,103 probably null Het
Rxfp1 C A 3: 79,670,846 probably null Het
Skor1 A T 9: 63,145,877 M270K probably damaging Het
Slc12a4 T C 8: 105,949,806 N495D possibly damaging Het
Slc26a3 T C 12: 31,457,096 V350A probably damaging Het
Slc44a4 T A 17: 34,928,487 V430D probably damaging Het
Slit2 C A 5: 48,304,223 C1537* probably null Het
Tas2r135 A T 6: 42,406,280 H251L probably damaging Het
Tbr1 T C 2: 61,811,698 F436L probably benign Het
Tmem145 G A 7: 25,308,232 M221I probably benign Het
Trrap T C 5: 144,824,550 V2300A probably benign Het
Usf3 C A 16: 44,220,311 A1718D possibly damaging Het
Usp10 C A 8: 119,948,775 S511Y probably damaging Het
Wdr38 A T 2: 38,998,412 N7I probably damaging Het
Wnt9a T C 11: 59,328,505 F119S probably damaging Het
Zc3h7b G A 15: 81,793,137 G880S probably benign Het
Other mutations in Them6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01954:Them6 APN 15 74721689 missense probably damaging 1.00
R2035:Them6 UTSW 15 74721675 missense probably damaging 1.00
R3806:Them6 UTSW 15 74721518 missense probably damaging 0.97
R4937:Them6 UTSW 15 74721518 missense probably damaging 1.00
R5642:Them6 UTSW 15 74721805 missense probably null 0.99
R7539:Them6 UTSW 15 74723500 missense probably damaging 0.97
R7780:Them6 UTSW 15 74721578 missense probably benign 0.05
Z1088:Them6 UTSW 15 74721569 missense probably benign 0.12
Posted On2015-04-16