Incidental Mutation 'IGL00771:Teddm1b'
ID11016
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Teddm1b
Ensembl Gene ENSMUSG00000043282
Gene Nametransmembrane epididymal protein 1B
SynonymsGm5531
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.288) question?
Stock #IGL00771
Quality Score
Status
Chromosome1
Chromosomal Location153874345-153876871 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 153874594 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Serine at position 50 (C50S)
Ref Sequence ENSEMBL: ENSMUSP00000058437 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055314] [ENSMUST00000123490]
Predicted Effect possibly damaging
Transcript: ENSMUST00000055314
AA Change: C50S

PolyPhen 2 Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000058437
Gene: ENSMUSG00000043282
AA Change: C50S

DomainStartEndE-ValueType
transmembrane domain 10 32 N/A INTRINSIC
transmembrane domain 53 75 N/A INTRINSIC
transmembrane domain 99 121 N/A INTRINSIC
Pfam:DUF716 127 247 3.6e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000123490
SMART Domains Protein: ENSMUSP00000115023
Gene: ENSMUSG00000045968

DomainStartEndE-ValueType
Pfam:DUF716 71 195 6.1e-36 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9830107B12Rik A G 17: 48,145,684 L28S possibly damaging Het
Abca13 T A 11: 9,290,870 L911Q probably damaging Het
Armc9 C A 1: 86,199,835 probably null Het
Asxl2 A G 12: 3,474,560 H196R probably damaging Het
Atm T C 9: 53,493,054 D1329G probably benign Het
Cds2 T C 2: 132,304,352 probably benign Het
Cep295 A T 9: 15,322,565 C2184S probably damaging Het
Cpeb2 T C 5: 43,237,547 F623L possibly damaging Het
Dmd G A X: 83,908,372 probably null Het
F11r T A 1: 171,462,942 probably null Het
Gbp3 C T 3: 142,565,244 probably benign Het
Gpc4 A G X: 52,074,650 S119P possibly damaging Het
H2-M10.2 A G 17: 36,286,396 L9P probably damaging Het
Ica1l T C 1: 60,013,947 D144G probably damaging Het
Jaml A G 9: 45,093,807 K124E possibly damaging Het
Lamc2 T C 1: 153,130,056 N950S probably benign Het
Ltbp1 A T 17: 75,362,516 D1099V probably damaging Het
Mlxipl C T 5: 135,132,778 T517I probably damaging Het
Nbeal1 C T 1: 60,235,353 R308C probably benign Het
Nlrp1a A T 11: 71,122,741 L561* probably null Het
Prom1 A T 5: 44,029,776 probably benign Het
Ptprc T A 1: 138,113,677 E148V probably benign Het
Rap1gap T C 4: 137,716,524 V224A probably damaging Het
Slc7a6 T C 8: 106,179,240 S35P probably benign Het
Snx17 C T 5: 31,197,335 R314C probably damaging Het
Spats2l T C 1: 57,943,072 L371P probably damaging Het
Spsb1 C T 4: 149,907,107 M1I probably null Het
Sv2a G A 3: 96,193,284 V661I probably benign Het
Taar7b T A 10: 24,000,198 V87E probably benign Het
Tcf7l2 G A 19: 55,917,421 V292I probably damaging Het
Trmt10a A G 3: 138,150,455 D159G probably benign Het
Urod T C 4: 116,990,384 N336S probably damaging Het
Usp8 A G 2: 126,725,433 probably null Het
Zfp182 A G X: 21,030,657 Y467H probably damaging Het
Other mutations in Teddm1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00909:Teddm1b APN 1 153874645 missense probably damaging 0.99
IGL02601:Teddm1b APN 1 153874616 missense probably damaging 0.99
R0551:Teddm1b UTSW 1 153875344 missense possibly damaging 0.66
R0815:Teddm1b UTSW 1 153874892 missense possibly damaging 0.83
R3441:Teddm1b UTSW 1 153875261 missense probably benign 0.00
R6220:Teddm1b UTSW 1 153875201 nonsense probably null
R6351:Teddm1b UTSW 1 153874759 missense probably benign 0.01
R6900:Teddm1b UTSW 1 153875210 missense probably benign 0.03
R7135:Teddm1b UTSW 1 153875166 missense probably damaging 1.00
R7171:Teddm1b UTSW 1 153874933 missense probably damaging 0.98
Posted On2012-12-06