Incidental Mutation 'R7135:Teddm1b'
ID 552970
Institutional Source Beutler Lab
Gene Symbol Teddm1b
Ensembl Gene ENSMUSG00000043282
Gene Name transmembrane epididymal protein 1B
Synonyms Gm5531
MMRRC Submission 045247-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.129) question?
Stock # R7135 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 153750091-153752617 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 153750912 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 240 (L240F)
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: L240F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000058437
Gene: ENSMUSG00000043282
AA Change: L240F

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (83/83)
Allele List at MGI
Other mutations in this stock
Total: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars2 T A 17: 45,819,887 (GRCm39) Y221* probably null Het
AC166344.1 T A 14: 43,158,245 (GRCm39) F97I Het
Ankmy2 T C 12: 36,246,311 (GRCm39) S412P probably benign Het
Ap1s3 T C 1: 79,586,919 (GRCm39) T144A probably benign Het
Armh2 T C 13: 24,925,489 (GRCm39) S78P probably benign Het
Asb3 T A 11: 30,948,501 (GRCm39) L59* probably null Het
Asxl3 G T 18: 22,650,758 (GRCm39) G916* probably null Het
Asxl3 G C 18: 22,650,759 (GRCm39) G916A probably damaging Het
Birc2 A C 9: 7,818,762 (GRCm39) F610V probably damaging Het
Camk4 G A 18: 33,240,996 (GRCm39) probably null Het
Ccdc162 A G 10: 41,549,855 (GRCm39) S343P probably benign Het
Ccnk T A 12: 108,152,734 (GRCm39) L17Q probably damaging Het
Cd59b G A 2: 103,914,792 (GRCm39) W63* probably null Het
Chrm3 C T 13: 9,927,837 (GRCm39) V400I probably benign Het
Crb1 C A 1: 139,171,105 (GRCm39) V762F probably damaging Het
Cspp1 C T 1: 10,159,161 (GRCm39) T529I possibly damaging Het
Cttnbp2 A G 6: 18,448,446 (GRCm39) I71T possibly damaging Het
Cyb561 C A 11: 105,826,393 (GRCm39) G90V probably damaging Het
Cyld T A 8: 89,471,520 (GRCm39) D804E possibly damaging Het
Ddx31 G A 2: 28,738,318 (GRCm39) V160I probably benign Het
Dgkg T C 16: 22,319,132 (GRCm39) D643G probably damaging Het
Dnah12 G A 14: 26,500,869 (GRCm39) probably null Het
Dnah12 T G 14: 26,523,370 (GRCm39) I1953S probably damaging Het
Dnah7b T C 1: 46,178,870 (GRCm39) W848R probably damaging Het
Dnah7c C T 1: 46,572,368 (GRCm39) T947M probably damaging Het
Dnmt3c C A 2: 153,556,872 (GRCm39) probably null Het
Dsp A T 13: 38,363,049 (GRCm39) Y443F probably damaging Het
Espl1 T A 15: 102,227,959 (GRCm39) C1603* probably null Het
Faiml G T 9: 99,116,496 (GRCm39) R65S probably benign Het
Gfpt2 T C 11: 49,695,782 (GRCm39) I4T probably damaging Het
Gm10376 T A 14: 42,867,950 (GRCm39) M179L probably benign Het
Gm4302 T A 10: 100,177,589 (GRCm39) M291K unknown Het
Gnb1l T A 16: 18,363,918 (GRCm39) D154E probably benign Het
Igkv10-94 T C 6: 68,681,727 (GRCm39) R38G possibly damaging Het
Inmt A T 6: 55,148,013 (GRCm39) Y205* probably null Het
Krba1 A G 6: 48,393,233 (GRCm39) Q1049R probably benign Het
Lpxn T A 19: 12,810,683 (GRCm39) C376S probably damaging Het
Lrrc52 T A 1: 167,294,019 (GRCm39) I89F probably damaging Het
Map9 A T 3: 82,270,765 (GRCm39) T110S probably benign Het
Mccc1 T C 3: 36,049,967 (GRCm39) Y75C probably damaging Het
Mff T A 1: 82,724,812 (GRCm39) L203* probably null Het
Micall1 C A 15: 78,993,624 (GRCm39) D47E unknown Het
Mink1 T C 11: 70,494,329 (GRCm39) F243S probably damaging Het
Mlycd C T 8: 120,129,216 (GRCm39) R228W probably damaging Het
Msr1 A T 8: 40,042,465 (GRCm39) V370E possibly damaging Het
Naip6 T C 13: 100,436,927 (GRCm39) E532G probably damaging Het
Nepn G A 10: 52,267,815 (GRCm39) C27Y probably damaging Het
Ninl T C 2: 150,797,524 (GRCm39) H592R probably benign Het
Nr4a2 A G 2: 57,002,261 (GRCm39) M64T possibly damaging Het
Oprm1 A T 10: 6,780,203 (GRCm39) I171F possibly damaging Het
Or4g16 T A 2: 111,137,365 (GRCm39) F272I probably benign Het
Or5p60 T C 7: 107,723,781 (GRCm39) K230E probably damaging Het
Pcbp1 A T 6: 86,502,488 (GRCm39) M137K possibly damaging Het
Pcf11 A T 7: 92,306,524 (GRCm39) S1215T probably benign Het
Pdlim5 A T 3: 142,017,683 (GRCm39) probably null Het
Pecam1 T C 11: 106,579,857 (GRCm39) I402V probably damaging Het
Pex12 T C 11: 83,188,468 (GRCm39) T176A probably benign Het
Phf3 T C 1: 30,870,190 (GRCm39) K286R possibly damaging Het
Pik3ap1 T A 19: 41,320,760 (GRCm39) D153V probably damaging Het
Pkhd1l1 T A 15: 44,448,374 (GRCm39) probably null Het
Plekhn1 A G 4: 156,307,792 (GRCm39) V378A probably benign Het
Pramel26 A T 4: 143,537,233 (GRCm39) L366Q probably damaging Het
Ptprm A T 17: 67,251,283 (GRCm39) D531E possibly damaging Het
Pum2 A T 12: 8,778,952 (GRCm39) Q508L possibly damaging Het
Rad54l A G 4: 115,963,027 (GRCm39) S324P probably damaging Het
Recql5 C T 11: 115,821,498 (GRCm39) probably null Het
Reln A T 5: 22,181,594 (GRCm39) V1763D possibly damaging Het
Rp1 T C 1: 4,418,391 (GRCm39) N907S possibly damaging Het
Scaf11 T A 15: 96,318,209 (GRCm39) N452Y possibly damaging Het
Scgb2b3 T A 7: 31,059,639 (GRCm39) H45L possibly damaging Het
Sim1 A G 10: 50,772,023 (GRCm39) T11A probably damaging Het
Slc5a12 T A 2: 110,447,059 (GRCm39) M189K possibly damaging Het
Slco2b1 C T 7: 99,344,270 (GRCm39) G10S probably null Het
Speer1j C T 5: 11,555,198 (GRCm39) P83S probably damaging Het
Stxbp3 A G 3: 108,708,071 (GRCm39) L410P probably damaging Het
Sugct T C 13: 17,476,594 (GRCm39) N297D probably benign Het
Syne1 A G 10: 5,183,409 (GRCm39) I4132T probably benign Het
Tlr5 C A 1: 182,803,088 (GRCm39) D797E possibly damaging Het
Tmprss13 G T 9: 45,249,643 (GRCm39) G327C probably damaging Het
Tnrc18 G T 5: 142,773,572 (GRCm39) A419D Het
Ttc28 T C 5: 111,427,873 (GRCm39) Y1790H probably damaging Het
Vmn1r125 T G 7: 21,006,327 (GRCm39) M75R probably damaging Het
Vwa3a T A 7: 120,372,253 (GRCm39) D276E possibly damaging Het
Wdfy3 C T 5: 102,063,303 (GRCm39) V1322M probably damaging Het
Wdr11 T C 7: 129,229,830 (GRCm39) S872P possibly damaging Het
Zc3h13 T C 14: 75,559,161 (GRCm39) S357P unknown 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
IGL02601:Teddm1b APN 1 153,750,362 (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
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
Predicted Primers PCR Primer
(F):5'- GGCTCCTGAAATGTTTCACCTC -3'
(R):5'- TATGTACCCAGGTTTCTAGGCC -3'

Sequencing Primer
(F):5'- CAGGATGATAGAGACCTTCCTGTTC -3'
(R):5'- AGGTTTCTAGGCCCTGTCACAG -3'
Posted On 2019-05-15