Incidental Mutation 'IGL02601:Teddm1b'
ID 300078
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Teddm1b
Ensembl Gene ENSMUSG00000043282
Gene Name transmembrane epididymal protein 1B
Synonyms Gm5531
Accession Numbers
Essential gene? Probably non essential (E-score: 0.129) question?
Stock # IGL02601
Quality Score
Status
Chromosome 1
Chromosomal Location 153750091-153752617 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 153750362 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 57 (Y57C)
Ref Sequence ENSEMBL: ENSMUSP00000058437 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055314] [ENSMUST00000123490]
AlphaFold Q8CC62
Predicted Effect probably damaging
Transcript: ENSMUST00000055314
AA Change: Y57C

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000058437
Gene: ENSMUSG00000043282
AA Change: Y57C

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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adap1 C T 5: 139,293,541 (GRCm39) V57M probably damaging Het
Agap3 A G 5: 24,688,369 (GRCm39) K23E possibly damaging Het
Anln A T 9: 22,249,331 (GRCm39) I132K probably damaging Het
Anxa4 T C 6: 86,737,683 (GRCm39) T13A probably benign Het
Bdp1 A T 13: 100,235,022 (GRCm39) Y191N possibly damaging Het
Carm1 G A 9: 21,498,204 (GRCm39) V403M probably damaging Het
Cbx7 A G 15: 79,807,671 (GRCm39) probably null Het
Chd8 A C 14: 52,451,757 (GRCm39) N16K possibly damaging Het
Crtc3 A T 7: 80,242,315 (GRCm39) D499E probably damaging Het
Cul3 A G 1: 80,249,432 (GRCm39) probably benign Het
D430041D05Rik T C 2: 104,060,631 (GRCm39) D1421G probably damaging Het
Fgb T A 3: 82,952,367 (GRCm39) E167D probably benign Het
Gimap6 T A 6: 48,679,409 (GRCm39) Q209L probably damaging Het
Gm3604 G A 13: 62,517,990 (GRCm39) H123Y possibly damaging Het
Gm5884 A T 6: 128,622,749 (GRCm39) noncoding transcript Het
Lyst G A 13: 13,835,541 (GRCm39) C1741Y probably benign Het
Obox3 T C 7: 15,360,848 (GRCm39) E97G probably damaging Het
Obsl1 T C 1: 75,466,264 (GRCm39) H1488R probably benign Het
Or4e1 A T 14: 52,700,802 (GRCm39) Y221* probably null Het
Or6c75 A G 10: 129,337,723 (GRCm39) *323W probably null Het
Pak5 T A 2: 135,958,855 (GRCm39) K78* probably null Het
Paqr9 A G 9: 95,442,877 (GRCm39) N289S probably damaging Het
Pde3b G A 7: 114,122,577 (GRCm39) R715H probably damaging Het
Pglyrp2 T C 17: 32,634,835 (GRCm39) H509R probably benign Het
Pik3ap1 A C 19: 41,290,881 (GRCm39) N550K probably benign Het
Pon3 A G 6: 5,221,671 (GRCm39) Y320H probably damaging Het
Ptprt T A 2: 161,608,227 (GRCm39) T690S probably benign Het
Ptprz1 T A 6: 23,000,686 (GRCm39) D925E probably benign Het
Rag1 T C 2: 101,473,018 (GRCm39) D708G probably damaging Het
Rbm12 C T 2: 155,937,480 (GRCm39) probably benign Het
Rbmy1b A G Y: 3,774,885 (GRCm39) I27M probably benign Het
Rfx2 G A 17: 57,092,354 (GRCm39) H315Y possibly damaging Het
Rnf123 G A 9: 107,945,501 (GRCm39) R390* probably null Het
Sis T C 3: 72,820,543 (GRCm39) N1407S probably benign Het
Slco1c1 T A 6: 141,490,555 (GRCm39) L261Q probably damaging Het
Sox30 T G 11: 45,875,589 (GRCm39) L447R possibly damaging Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Ssu72 A G 4: 155,789,882 (GRCm39) N15S possibly damaging Het
Stat4 C T 1: 52,137,574 (GRCm39) S455F probably damaging Het
Stk4 T A 2: 163,928,462 (GRCm39) L97Q probably damaging Het
Sulf1 A T 1: 12,856,869 (GRCm39) N40I probably damaging Het
Sympk G A 7: 18,782,794 (GRCm39) V877I probably benign Het
Taar7b A T 10: 23,876,204 (GRCm39) H123L probably damaging Het
Tep1 A T 14: 51,070,935 (GRCm39) C2121* probably null Het
Tnfsf11 T A 14: 78,537,385 (GRCm39) R93* probably null Het
Tspan12 A C 6: 21,835,378 (GRCm39) probably benign Het
Tyrp1 A G 4: 80,759,012 (GRCm39) E295G probably null Het
Vps4a T C 8: 107,769,693 (GRCm39) I334T probably damaging Het
Zfhx3 T C 8: 109,583,462 (GRCm39) S1110P probably damaging Het
Zfp507 A G 7: 35,491,136 (GRCm39) S716P probably damaging Het
Other mutations in Teddm1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00771:Teddm1b APN 1 153,750,340 (GRCm39) missense possibly damaging 0.65
IGL00909:Teddm1b APN 1 153,750,391 (GRCm39) missense probably damaging 0.99
R0551:Teddm1b UTSW 1 153,751,090 (GRCm39) missense possibly damaging 0.66
R0815:Teddm1b UTSW 1 153,750,638 (GRCm39) missense possibly damaging 0.83
R3441:Teddm1b UTSW 1 153,751,007 (GRCm39) missense probably benign 0.00
R6220:Teddm1b UTSW 1 153,750,947 (GRCm39) nonsense probably null
R6351:Teddm1b UTSW 1 153,750,505 (GRCm39) missense probably benign 0.01
R6900:Teddm1b UTSW 1 153,750,956 (GRCm39) missense probably benign 0.03
R7135:Teddm1b UTSW 1 153,750,912 (GRCm39) missense probably damaging 1.00
R7171:Teddm1b UTSW 1 153,750,679 (GRCm39) missense probably damaging 0.98
R8552:Teddm1b UTSW 1 153,750,194 (GRCm39) start codon destroyed probably null 0.02
R9622:Teddm1b UTSW 1 153,750,620 (GRCm39) missense
Posted On 2015-04-16