Incidental Mutation 'IGL01813:BC022687'
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ID154325
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol BC022687
Ensembl Gene ENSMUSG00000037594
Gene NamecDNA sequence BC022687
SynonymsFlj20080, C130001I08Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.066) question?
Stock #IGL01813
Quality Score
Status
Chromosome12
Chromosomal Location112808937-112816252 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 112815559 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Methionine at position 272 (T272M)
Ref Sequence ENSEMBL: ENSMUSP00000137263 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037014] [ENSMUST00000062092] [ENSMUST00000177808] [ENSMUST00000220899]
Predicted Effect probably damaging
Transcript: ENSMUST00000037014
AA Change: T272M

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000038002
Gene: ENSMUSG00000037594
AA Change: T272M

DomainStartEndE-ValueType
Pfam:Clathrin_bdg 189 268 3.1e-40 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000062092
SMART Domains Protein: ENSMUSP00000058901
Gene: ENSMUSG00000047832

DomainStartEndE-ValueType
Pfam:SERTA 33 70 9.1e-22 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000177808
AA Change: T272M

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000137263
Gene: ENSMUSG00000037594
AA Change: T272M

DomainStartEndE-ValueType
Pfam:Clathrin_bdg 188 268 3.8e-34 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000220899
Coding Region Coverage
Validation Efficiency
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
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
Samd7 C T 3: 30,754,286 P83S probably benign 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 BC022687
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01668:BC022687 APN 12 112809644 missense probably damaging 0.99
IGL03090:BC022687 APN 12 112815720 unclassified probably null
IGL03225:BC022687 APN 12 112815591 missense probably damaging 0.98
R1239:BC022687 UTSW 12 112809503 missense probably benign 0.15
R6123:BC022687 UTSW 12 112810910 missense probably damaging 0.99
R6756:BC022687 UTSW 12 112812200 missense probably damaging 0.99
R6975:BC022687 UTSW 12 112809597 missense possibly damaging 0.93
R7211:BC022687 UTSW 12 112811012 critical splice donor site probably null
Posted On2014-02-04