Incidental Mutation 'IGL00909:Teddm1b'
ID26618
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 #IGL00909
Quality Score
Status
Chromosome1
Chromosomal Location153874345-153876871 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 153874645 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 67 (S67P)
Ref Sequence ENSEMBL: ENSMUSP00000058437 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055314] [ENSMUST00000123490]
Predicted Effect probably damaging
Transcript: ENSMUST00000055314
AA Change: S67P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000058437
Gene: ENSMUSG00000043282
AA Change: S67P

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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931429L15Rik T A 9: 46,308,952 D94V possibly damaging Het
9330182L06Rik A T 5: 9,380,282 D64V probably damaging Het
Adamts20 T C 15: 94,379,813 Y256C probably damaging Het
Ampd1 A C 3: 103,088,428 D218A probably benign Het
Arcn1 T C 9: 44,751,354 N332D probably damaging Het
Arpp21 T A 9: 112,176,123 I219F probably damaging Het
Bicra A T 7: 15,996,577 D5E possibly damaging Het
Birc2 A C 9: 7,833,665 W272G probably damaging Het
Cd2ap A T 17: 42,830,114 probably benign Het
Celsr1 G A 15: 85,922,235 R974W probably damaging Het
Col4a2 A C 8: 11,448,167 T1659P possibly damaging Het
Coq9 C T 8: 94,851,902 L215F possibly damaging Het
Cped1 A G 6: 22,122,427 probably benign Het
Gga3 T A 11: 115,591,741 R105W probably damaging Het
Gm996 A G 2: 25,579,407 L164P probably damaging Het
Hmcn1 C T 1: 150,638,869 R3584Q probably benign Het
Hs6st3 T A 14: 119,139,034 L207Q probably damaging Het
Ift43 A G 12: 86,162,033 E141G probably damaging Het
Mrps31 T G 8: 22,427,825 F287V probably damaging Het
Naca A G 10: 128,041,682 probably benign Het
Nrf1 C T 6: 30,098,478 T135M probably damaging Het
Olfr510 A G 7: 108,667,700 I95V possibly damaging Het
Pfas A T 11: 69,003,814 Y8* probably null Het
Ppip5k1 G A 2: 121,347,358 R323W probably damaging Het
Rasal1 A G 5: 120,664,807 E376G probably damaging Het
Rfc1 A G 5: 65,279,699 L546P probably benign Het
Rheb A T 5: 24,807,075 I129N probably damaging Het
Scpep1 A T 11: 88,952,477 F52I probably damaging Het
Six2 A T 17: 85,687,891 L21Q probably damaging Het
Slit1 G T 19: 41,602,255 T1326K possibly damaging Het
Spata2l T C 8: 123,233,977 D191G possibly damaging Het
Susd4 C A 1: 182,891,987 A389D probably damaging Het
Tcaf2 A T 6: 42,624,576 F850I probably damaging Het
Tiparp T A 3: 65,532,109 V100D probably damaging Het
Zdhhc14 A G 17: 5,752,792 H390R probably benign Het
Other mutations in Teddm1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00771:Teddm1b APN 1 153874594 missense possibly damaging 0.65
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 On2013-04-17