Incidental Mutation 'IGL02234:Mid2'
ID 285839
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mid2
Ensembl Gene ENSMUSG00000000266
Gene Name midline 2
Synonyms FXY2, Trim1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.166) question?
Stock # IGL02234
Quality Score
Status
Chromosome X
Chromosomal Location 139565348-139668464 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 139664418 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 646 (S646P)
Ref Sequence ENSEMBL: ENSMUSP00000108612 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112988] [ENSMUST00000112990] [ENSMUST00000112993]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000112988
AA Change: S646P

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000108612
Gene: ENSMUSG00000000266
AA Change: S646P

DomainStartEndE-ValueType
RING 10 59 2.53e-6 SMART
BBOX 114 164 1.96e-3 SMART
BBOX 170 212 1.09e-10 SMART
BBC 219 345 1.81e-33 SMART
FN3 382 502 2.28e-5 SMART
SPRY 568 686 1.4e-32 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000112990
AA Change: S616P

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000108614
Gene: ENSMUSG00000000266
AA Change: S616P

DomainStartEndE-ValueType
RING 10 59 2.53e-6 SMART
BBOX 114 164 1.96e-3 SMART
BBOX 170 212 1.09e-10 SMART
BBC 219 345 1.81e-33 SMART
FN3 382 472 1.4e-5 SMART
SPRY 538 656 1.4e-32 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000112993
AA Change: S616P

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000108617
Gene: ENSMUSG00000000266
AA Change: S616P

DomainStartEndE-ValueType
RING 10 59 2.53e-6 SMART
BBOX 114 164 1.96e-3 SMART
BBOX 170 212 1.09e-10 SMART
BBC 219 345 1.81e-33 SMART
FN3 382 472 1.4e-5 SMART
SPRY 538 656 1.4e-32 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein localizes to microtubular structures in the cytoplasm. Alternate splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Feb 2009]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m C T 6: 121,645,179 (GRCm39) T1010M possibly damaging Het
Atr A G 9: 95,829,303 (GRCm39) probably benign Het
Cdc42bpa A T 1: 179,978,756 (GRCm39) K1585* probably null Het
Cdh19 T C 1: 110,859,956 (GRCm39) D175G probably damaging Het
Celsr3 G T 9: 108,707,159 (GRCm39) R1214L probably benign Het
Chchd1 T C 14: 20,753,478 (GRCm39) probably null Het
Col4a1 T C 8: 11,266,713 (GRCm39) K1165E probably damaging Het
Col6a4 A G 9: 105,890,631 (GRCm39) F1888L possibly damaging Het
Csmd3 C A 15: 47,811,512 (GRCm39) R1193L probably damaging Het
Cyp2d11 T A 15: 82,274,340 (GRCm39) H347L probably benign Het
Cyp4f13 A G 17: 33,143,748 (GRCm39) probably benign Het
Dop1b T C 16: 93,549,039 (GRCm39) V193A probably benign Het
Dus4l T C 12: 31,691,495 (GRCm39) probably benign Het
Epc1 G A 18: 6,439,938 (GRCm39) H79Y probably damaging Het
Gm12588 T A 11: 121,799,151 (GRCm39) Het
Gpr107 T C 2: 31,067,845 (GRCm39) Y222H probably damaging Het
Gzmn C T 14: 56,406,464 (GRCm39) probably null Het
Helq A G 5: 100,944,336 (GRCm39) I258T possibly damaging Het
Hsp90ab1 T C 17: 45,880,661 (GRCm39) K137R probably benign Het
Htr1f T A 16: 64,746,430 (GRCm39) R287S probably damaging Het
Il20ra A C 10: 19,625,018 (GRCm39) D99A probably damaging Het
Lpp C T 16: 24,580,895 (GRCm39) R204W probably damaging Het
Mboat7 A G 7: 3,694,350 (GRCm39) Y34H probably damaging Het
Msh6 T C 17: 88,294,229 (GRCm39) S995P probably damaging Het
Mtmr10 A G 7: 63,949,350 (GRCm39) I108V probably benign Het
Muc6 G A 7: 141,226,842 (GRCm39) T1395M probably benign Het
Nlrp4f A G 13: 65,342,302 (GRCm39) F448L probably damaging Het
Odc1 C A 12: 17,598,621 (GRCm39) D220E possibly damaging Het
Or8k33 T C 2: 86,383,610 (GRCm39) N286S probably damaging Het
Pax7 A G 4: 139,555,901 (GRCm39) I189T probably damaging Het
Pcdh12 T A 18: 38,416,588 (GRCm39) H179L probably damaging Het
Pcdh15 A T 10: 74,467,694 (GRCm39) M1836L probably benign Het
Psmc5 T C 11: 106,153,836 (GRCm39) V390A probably benign Het
Ror2 C T 13: 53,264,764 (GRCm39) S764N probably damaging Het
Rpgrip1 A G 14: 52,368,766 (GRCm39) probably benign Het
Sema5a C T 15: 32,679,318 (GRCm39) R866C probably damaging Het
Stox2 A G 8: 47,646,647 (GRCm39) F271S probably damaging Het
Tpgs2 T C 18: 25,282,301 (GRCm39) probably null Het
Ttll8 T A 15: 88,798,252 (GRCm39) I828F possibly damaging Het
Vmn1r7 T C 6: 57,001,537 (GRCm39) Y241C probably damaging Het
Zfp318 C T 17: 46,707,736 (GRCm39) R265* probably null Het
Other mutations in Mid2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02072:Mid2 APN X 139,637,201 (GRCm39) missense probably damaging 1.00
IGL02367:Mid2 APN X 139,637,245 (GRCm39) missense probably damaging 1.00
R0738:Mid2 UTSW X 139,664,425 (GRCm39) missense probably damaging 1.00
R4789:Mid2 UTSW X 139,578,981 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16