Incidental Mutation 'IGL03224:Teddm1a'
ID 413732
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Teddm1a
Ensembl Gene ENSMUSG00000047053
Gene Name transmembrane epididymal protein 1A
Synonyms e9-1, Teddm1, Epdd1
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.486) question?
Stock # IGL03224
Quality Score
Status
Chromosome 1
Chromosomal Location 153767488-153768804 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 153767763 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Phenylalanine at position 76 (V76F)
Ref Sequence ENSEMBL: ENSMUSP00000062098 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050660] [ENSMUST00000123490]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000050660
AA Change: V76F

PolyPhen 2 Score 0.765 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000062098
Gene: ENSMUSG00000047053
AA Change: V76F

DomainStartEndE-ValueType
transmembrane domain 12 31 N/A INTRINSIC
transmembrane domain 54 76 N/A INTRINSIC
Pfam:DUF716 126 246 9.4e-28 PFAM
low complexity region 282 293 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000123490
SMART Domains Protein: ENSMUSP00000115023
Gene: ENSMUSG00000045968

DomainStartEndE-ValueType
Pfam:DUF716 71 195 6.1e-36 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194459
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ash1l T C 3: 88,942,575 (GRCm39) probably benign Het
Capn10 T G 1: 92,867,046 (GRCm39) V92G probably damaging Het
Cntn2 A G 1: 132,450,780 (GRCm39) C532R probably damaging Het
Csf1r T C 18: 61,245,134 (GRCm39) F233L probably damaging Het
Cts6 T C 13: 61,349,547 (GRCm39) D82G probably damaging Het
Cym T C 3: 107,126,048 (GRCm39) S72G possibly damaging Het
Cyp4a29 T A 4: 115,104,247 (GRCm39) M105K probably damaging Het
Dhx35 T C 2: 158,699,052 (GRCm39) probably benign Het
Dnah5 C A 15: 28,459,300 (GRCm39) D4506E probably damaging Het
Dok5 T C 2: 170,674,807 (GRCm39) F139L possibly damaging Het
Dync2h1 T C 9: 7,076,235 (GRCm39) D2974G probably benign Het
Frem3 C T 8: 81,340,092 (GRCm39) T795I probably damaging Het
Ints6l A G X: 55,543,287 (GRCm39) T525A probably damaging Het
Lrp1b T C 2: 41,361,043 (GRCm39) T587A possibly damaging Het
Meikin A G 11: 54,289,286 (GRCm39) M220V probably benign Het
Mmp12 T A 9: 7,350,002 (GRCm39) probably benign Het
Mpp7 T C 18: 7,403,269 (GRCm39) D347G probably benign Het
Myo3b A G 2: 70,180,283 (GRCm39) Y1190C probably benign Het
Myo5c A G 9: 75,185,525 (GRCm39) K963E probably benign Het
Nipbl T C 15: 8,322,569 (GRCm39) D2614G probably damaging Het
Ppp1r3f A G X: 7,426,821 (GRCm39) V480A probably benign Het
Prkcb A T 7: 122,116,147 (GRCm39) K209* probably null Het
Rasgef1a A G 6: 118,066,767 (GRCm39) probably benign Het
Ryr3 A T 2: 112,784,681 (GRCm39) C233* probably null Het
Scn8a A G 15: 100,933,520 (GRCm39) R1534G probably damaging Het
Slitrk3 A T 3: 72,957,263 (GRCm39) L503H possibly damaging Het
Spag17 A G 3: 99,918,156 (GRCm39) K380E possibly damaging Het
Spata31d1a A G 13: 59,848,840 (GRCm39) V1096A possibly damaging Het
Synrg C T 11: 83,930,492 (GRCm39) T1278M possibly damaging Het
Troap A G 15: 98,979,758 (GRCm39) T365A probably benign Het
Vps35l A G 7: 118,391,776 (GRCm39) probably benign Het
Other mutations in Teddm1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02394:Teddm1a APN 1 153,767,545 (GRCm39) missense probably benign 0.02
R0279:Teddm1a UTSW 1 153,768,369 (GRCm39) missense probably damaging 1.00
R1108:Teddm1a UTSW 1 153,768,066 (GRCm39) missense probably damaging 1.00
R3036:Teddm1a UTSW 1 153,767,656 (GRCm39) missense probably benign
R4393:Teddm1a UTSW 1 153,768,192 (GRCm39) missense probably damaging 1.00
R4686:Teddm1a UTSW 1 153,768,196 (GRCm39) missense probably damaging 1.00
R4855:Teddm1a UTSW 1 153,768,382 (GRCm39) missense probably benign 0.05
R4967:Teddm1a UTSW 1 153,767,979 (GRCm39) nonsense probably null
R5260:Teddm1a UTSW 1 153,767,646 (GRCm39) missense probably benign 0.01
R6114:Teddm1a UTSW 1 153,767,614 (GRCm39) missense probably damaging 1.00
R6559:Teddm1a UTSW 1 153,768,111 (GRCm39) missense probably benign
R7030:Teddm1a UTSW 1 153,768,369 (GRCm39) missense probably damaging 1.00
Z1088:Teddm1a UTSW 1 153,767,772 (GRCm39) missense probably benign 0.12
Posted On 2016-08-02