Incidental Mutation 'IGL02367:Mid2'
ID 290770
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 # IGL02367
Quality Score
Status
Chromosome X
Chromosomal Location 139565348-139668464 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 139637245 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 273 (I273N)
Ref Sequence ENSEMBL: ENSMUSP00000108617 (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: I273N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000108612
Gene: ENSMUSG00000000266
AA Change: I273N

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 probably damaging
Transcript: ENSMUST00000112990
AA Change: I273N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000108614
Gene: ENSMUSG00000000266
AA Change: I273N

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 probably damaging
Transcript: ENSMUST00000112993
AA Change: I273N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000108617
Gene: ENSMUSG00000000266
AA Change: I273N

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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik T C 15: 81,949,748 (GRCm39) L1215P probably benign Het
Angptl7 T C 4: 148,584,601 (GRCm39) N49S possibly damaging Het
Asns A G 6: 7,685,411 (GRCm39) probably benign Het
Atr T A 9: 95,781,194 (GRCm39) Y1419* probably null Het
Bptf A T 11: 106,964,178 (GRCm39) I1672N probably benign Het
Cgas G A 9: 78,341,667 (GRCm39) T370I probably benign Het
Chd1 A G 17: 17,610,315 (GRCm39) T490A probably damaging Het
Cyfip2 A T 11: 46,167,732 (GRCm39) C223* probably null Het
Ddr1 G A 17: 35,994,372 (GRCm39) A801V probably damaging Het
Dnah12 T C 14: 26,430,316 (GRCm39) V308A probably benign Het
Dync2h1 A G 9: 7,158,926 (GRCm39) V703A probably damaging Het
Fgd3 A G 13: 49,440,802 (GRCm39) F210L probably damaging Het
Gm6526 T G 14: 43,988,262 (GRCm39) V171G probably damaging Het
Grin3a A G 4: 49,702,805 (GRCm39) Y894H probably damaging Het
Grm3 C A 5: 9,561,660 (GRCm39) C730F probably damaging Het
Habp4 C A 13: 64,321,905 (GRCm39) P181T probably damaging Het
Hdac4 A G 1: 91,886,171 (GRCm39) probably benign Het
Ints5 A G 19: 8,872,959 (GRCm39) D306G probably benign Het
Ndufs2 A T 1: 171,066,934 (GRCm39) Y114* probably null Het
Neu4 G T 1: 93,952,213 (GRCm39) R194L probably damaging Het
Ntng1 A T 3: 110,042,829 (GRCm39) probably null Het
Nub1 A G 5: 24,894,392 (GRCm39) M1V probably null Het
Olfml2a A G 2: 38,844,680 (GRCm39) T379A probably benign Het
Or9e1 A T 11: 58,732,338 (GRCm39) I133F probably benign Het
Pex3 G T 10: 13,400,643 (GRCm39) Q303K probably benign Het
Pmp2 A T 3: 10,247,560 (GRCm39) I43N probably damaging Het
Pnliprp1 T A 19: 58,726,601 (GRCm39) D319E probably benign Het
Rap1gap2 A T 11: 74,288,181 (GRCm39) probably null Het
Rpl15-ps6 T C 15: 52,341,368 (GRCm39) noncoding transcript Het
Rwdd3 A G 3: 120,952,679 (GRCm39) V104A probably damaging Het
Sbf1 A T 15: 89,191,775 (GRCm39) V157E probably damaging Het
Slc4a11 T A 2: 130,526,879 (GRCm39) I750F probably damaging Het
Tcea1 G A 1: 4,948,356 (GRCm39) probably null Het
Ush2a A T 1: 188,516,943 (GRCm39) M3218L probably benign Het
Utp20 G A 10: 88,607,715 (GRCm39) probably benign Het
Zfp493 T A 13: 67,935,089 (GRCm39) Y347* probably null Het
Zswim6 T C 13: 107,880,637 (GRCm39) noncoding transcript Het
Other mutations in Mid2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02072:Mid2 APN X 139,637,201 (GRCm39) missense probably damaging 1.00
IGL02234:Mid2 APN X 139,664,418 (GRCm39) missense probably damaging 0.99
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