Incidental Mutation 'IGL03170:Tro'
ID 411816
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tro
Ensembl Gene ENSMUSG00000025272
Gene Name trophinin
Synonyms Tnn, magphinin, magphinin-alpha, magphinin-beta 2, magphinin-gamma, trophinin-2, necdin and trophinin like, Maged3l, Maged3, Trol
Accession Numbers
Essential gene? Probably non essential (E-score: 0.097) question?
Stock # IGL03170
Quality Score
Status
Chromosome X
Chromosomal Location 149428300-149440579 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 149438556 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 34 (S34P)
Ref Sequence ENSEMBL: ENSMUSP00000116905 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087253] [ENSMUST00000087258] [ENSMUST00000112709] [ENSMUST00000148604] [ENSMUST00000151403] [ENSMUST00000163450] [ENSMUST00000163969] [ENSMUST00000164071]
AlphaFold Q6DIC6
Predicted Effect unknown
Transcript: ENSMUST00000087253
AA Change: S34P
SMART Domains Protein: ENSMUSP00000084508
Gene: ENSMUSG00000025272
AA Change: S34P

DomainStartEndE-ValueType
low complexity region 16 30 N/A INTRINSIC
low complexity region 48 55 N/A INTRINSIC
internal_repeat_2 62 105 5.33e-6 PROSPERO
internal_repeat_1 95 280 8.68e-15 PROSPERO
internal_repeat_2 120 164 5.33e-6 PROSPERO
internal_repeat_1 275 441 8.68e-15 PROSPERO
low complexity region 445 471 N/A INTRINSIC
low complexity region 491 501 N/A INTRINSIC
low complexity region 526 542 N/A INTRINSIC
Pfam:MAGE 596 765 8e-60 PFAM
SCOP:d1gt91_ 780 951 9e-3 SMART
Predicted Effect unknown
Transcript: ENSMUST00000087258
AA Change: S34P
SMART Domains Protein: ENSMUSP00000084513
Gene: ENSMUSG00000025272
AA Change: S34P

DomainStartEndE-ValueType
low complexity region 16 30 N/A INTRINSIC
low complexity region 48 55 N/A INTRINSIC
internal_repeat_3 62 105 6.04e-6 PROSPERO
internal_repeat_2 95 280 2.73e-15 PROSPERO
internal_repeat_3 120 164 6.04e-6 PROSPERO
internal_repeat_2 275 441 2.73e-15 PROSPERO
low complexity region 445 471 N/A INTRINSIC
low complexity region 491 501 N/A INTRINSIC
low complexity region 526 542 N/A INTRINSIC
Pfam:MAGE 596 765 1.6e-58 PFAM
low complexity region 794 810 N/A INTRINSIC
low complexity region 891 1028 N/A INTRINSIC
low complexity region 1057 1073 N/A INTRINSIC
low complexity region 1087 1108 N/A INTRINSIC
low complexity region 1110 1142 N/A INTRINSIC
low complexity region 1144 1155 N/A INTRINSIC
low complexity region 1157 1175 N/A INTRINSIC
internal_repeat_1 1176 1361 9.97e-23 PROSPERO
low complexity region 1393 1409 N/A INTRINSIC
internal_repeat_1 1540 1728 9.97e-23 PROSPERO
low complexity region 1764 1786 N/A INTRINSIC
low complexity region 1790 1815 N/A INTRINSIC
low complexity region 1821 1836 N/A INTRINSIC
low complexity region 1870 1910 N/A INTRINSIC
low complexity region 1915 1931 N/A INTRINSIC
low complexity region 1962 2085 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000112709
AA Change: S34P
SMART Domains Protein: ENSMUSP00000108329
Gene: ENSMUSG00000025272
AA Change: S34P

DomainStartEndE-ValueType
low complexity region 16 30 N/A INTRINSIC
low complexity region 48 55 N/A INTRINSIC
internal_repeat_3 62 105 6.04e-6 PROSPERO
internal_repeat_2 95 280 2.73e-15 PROSPERO
internal_repeat_3 120 164 6.04e-6 PROSPERO
internal_repeat_2 275 441 2.73e-15 PROSPERO
low complexity region 445 471 N/A INTRINSIC
low complexity region 491 501 N/A INTRINSIC
low complexity region 526 542 N/A INTRINSIC
MAGE 596 765 2.03e-90 SMART
low complexity region 794 810 N/A INTRINSIC
low complexity region 891 1028 N/A INTRINSIC
low complexity region 1057 1073 N/A INTRINSIC
low complexity region 1087 1108 N/A INTRINSIC
low complexity region 1110 1142 N/A INTRINSIC
low complexity region 1144 1155 N/A INTRINSIC
low complexity region 1157 1175 N/A INTRINSIC
internal_repeat_1 1176 1361 9.97e-23 PROSPERO
low complexity region 1393 1409 N/A INTRINSIC
internal_repeat_1 1540 1728 9.97e-23 PROSPERO
low complexity region 1764 1786 N/A INTRINSIC
low complexity region 1790 1815 N/A INTRINSIC
low complexity region 1821 1836 N/A INTRINSIC
low complexity region 1870 1910 N/A INTRINSIC
low complexity region 1915 1931 N/A INTRINSIC
low complexity region 1962 2085 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000148604
AA Change: S34P

PolyPhen 2 Score 0.360 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000116905
Gene: ENSMUSG00000025272
AA Change: S34P

DomainStartEndE-ValueType
low complexity region 16 30 N/A INTRINSIC
low complexity region 48 55 N/A INTRINSIC
internal_repeat_1 95 280 5.1e-9 PROSPERO
internal_repeat_1 275 441 5.1e-9 PROSPERO
low complexity region 445 471 N/A INTRINSIC
low complexity region 491 501 N/A INTRINSIC
low complexity region 526 542 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000151403
AA Change: S34P
SMART Domains Protein: ENSMUSP00000120457
Gene: ENSMUSG00000025272
AA Change: S34P

DomainStartEndE-ValueType
low complexity region 16 30 N/A INTRINSIC
low complexity region 48 55 N/A INTRINSIC
internal_repeat_1 95 280 6.85e-11 PROSPERO
internal_repeat_1 275 441 6.85e-11 PROSPERO
low complexity region 445 471 N/A INTRINSIC
low complexity region 491 501 N/A INTRINSIC
low complexity region 526 542 N/A INTRINSIC
Pfam:MAGE 596 765 6.3e-60 PFAM
low complexity region 794 808 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000163450
Predicted Effect unknown
Transcript: ENSMUST00000163969
AA Change: S34P
SMART Domains Protein: ENSMUSP00000126054
Gene: ENSMUSG00000025272
AA Change: S34P

DomainStartEndE-ValueType
low complexity region 16 30 N/A INTRINSIC
low complexity region 48 55 N/A INTRINSIC
internal_repeat_1 95 280 5.6e-10 PROSPERO
internal_repeat_1 275 441 5.6e-10 PROSPERO
low complexity region 445 471 N/A INTRINSIC
low complexity region 491 501 N/A INTRINSIC
low complexity region 526 542 N/A INTRINSIC
Pfam:MAGE 596 765 5.9e-60 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000165192
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169450
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171775
Predicted Effect probably benign
Transcript: ENSMUST00000164071
SMART Domains Protein: ENSMUSP00000126042
Gene: ENSMUSG00000025272

DomainStartEndE-ValueType
Pfam:MAGE 54 223 7.1e-61 PFAM
low complexity region 252 266 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a membrane protein that mediates cell adhesion between trophoblastic cells and the epithelial cells of the endometrium. The encoded protein participates in cell signalling during embryo implantation, and may also be involved in cancer formation. This gene is located near several other closely related genes on chromosome X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2012]
PHENOTYPE: Homozygous female or hemizygous male mice on a mixed 129 and NIH black Swiss background are viable, fertile and elderly mice exhibit no disorders. On an inbred 129 background, homozygous female or hemizygous male mice show partial embryonic lethality between E3.5 and E8.5. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cand2 A G 6: 115,774,861 (GRCm39) D1023G probably damaging Het
Ccn1 C A 3: 145,355,514 (GRCm39) A12S probably benign Het
Cyp2c54 A G 19: 40,060,809 (GRCm39) probably null Het
Cyp4f37 C T 17: 32,844,093 (GRCm39) probably benign Het
Entpd2 T C 2: 25,289,493 (GRCm39) F325S probably damaging Het
Flnb T C 14: 7,818,261 (GRCm38) I37T possibly damaging Het
Gtpbp10 A G 5: 5,605,355 (GRCm39) V116A probably benign Het
H2-T9 C T 17: 36,439,605 (GRCm39) G125E probably damaging Het
Lrp1b T A 2: 40,587,456 (GRCm39) N164I unknown Het
Nle1 T A 11: 82,795,096 (GRCm39) T312S probably benign Het
Or10ab5 T C 7: 108,245,307 (GRCm39) I159V probably benign Het
Pim1 T A 17: 29,710,152 (GRCm39) L12Q possibly damaging Het
Plb1 G T 5: 32,442,246 (GRCm39) C246F probably damaging Het
Ppp4r4 T C 12: 103,557,033 (GRCm39) probably benign Het
Prl6a1 T A 13: 27,499,406 (GRCm39) V63D possibly damaging Het
Ptprz1 G A 6: 22,959,766 (GRCm39) A88T probably benign Het
Ranbp3l A T 15: 9,029,611 (GRCm39) E31V probably damaging Het
Relch C T 1: 105,663,680 (GRCm39) T943I probably damaging Het
Rgs9 G A 11: 109,150,681 (GRCm39) T209I probably benign Het
Smg8 A G 11: 86,977,434 (GRCm39) V49A probably damaging Het
Smim6 A T 11: 115,804,314 (GRCm39) T34S possibly damaging Het
Snw1 T G 12: 87,519,022 (GRCm39) T4P probably benign Het
Sod2 C A 17: 13,227,257 (GRCm39) H70Q probably benign Het
Tshr T A 12: 91,504,643 (GRCm39) M527K probably damaging Het
Uggt1 A C 1: 36,202,342 (GRCm39) V1085G probably damaging Het
Vmn1r21 A G 6: 57,820,847 (GRCm39) V199A probably damaging Het
Xkr9 T C 1: 13,771,036 (GRCm39) I184T possibly damaging Het
Zfp369 T C 13: 65,442,224 (GRCm39) S273P probably damaging Het
Zpld2 C T 4: 133,920,345 (GRCm39) V607I possibly damaging Het
Other mutations in Tro
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00772:Tro APN X 149,438,321 (GRCm39) missense probably benign 0.45
IGL00818:Tro APN X 149,431,357 (GRCm39) missense probably damaging 1.00
R0022:Tro UTSW X 149,430,508 (GRCm39) intron probably benign
R0049:Tro UTSW X 149,437,565 (GRCm39) missense possibly damaging 0.56
R1378:Tro UTSW X 149,438,567 (GRCm39) missense probably damaging 1.00
R2228:Tro UTSW X 149,438,477 (GRCm39) missense probably benign 0.17
R3080:Tro UTSW X 149,438,198 (GRCm39) missense probably benign 0.09
R3437:Tro UTSW X 149,429,252 (GRCm39) intron probably benign
R3715:Tro UTSW X 149,437,230 (GRCm39) missense probably damaging 1.00
R3783:Tro UTSW X 149,438,048 (GRCm39) missense possibly damaging 0.83
R3787:Tro UTSW X 149,438,048 (GRCm39) missense possibly damaging 0.83
R3840:Tro UTSW X 149,429,198 (GRCm39) intron probably benign
R4001:Tro UTSW X 149,438,198 (GRCm39) missense probably benign 0.09
R5449:Tro UTSW X 149,428,966 (GRCm39) intron probably benign
R7112:Tro UTSW X 149,428,852 (GRCm39) intron probably benign
R7909:Tro UTSW X 149,431,620 (GRCm39) intron probably benign
R8811:Tro UTSW X 149,438,555 (GRCm39) missense unknown
R8812:Tro UTSW X 149,438,555 (GRCm39) missense unknown
R8813:Tro UTSW X 149,438,555 (GRCm39) missense unknown
Posted On 2016-08-02