Incidental Mutation 'IGL02072:Mid2'
ID 185860
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 # IGL02072
Quality Score
Status
Chromosome X
Chromosomal Location 139565348-139668464 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 139637201 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 258 (H258Q)
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: H258Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000108612
Gene: ENSMUSG00000000266
AA Change: H258Q

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 benign
Transcript: ENSMUST00000112990
AA Change: H258Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000108614
Gene: ENSMUSG00000000266
AA Change: H258Q

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 benign
Transcript: ENSMUST00000112993
AA Change: H258Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000108617
Gene: ENSMUSG00000000266
AA Change: H258Q

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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930595D18Rik T A 12: 111,128,254 (GRCm39) probably benign Het
Atm A G 9: 53,371,096 (GRCm39) S2251P probably benign Het
C1qtnf6 T A 15: 78,411,551 (GRCm39) K42* probably null Het
Ddx20 A T 3: 105,587,943 (GRCm39) V379E probably damaging Het
Dnah7a A T 1: 53,644,986 (GRCm39) W1017R probably damaging Het
Eif2s1 T A 12: 78,926,788 (GRCm39) N179K probably benign Het
Exosc9 A T 3: 36,608,821 (GRCm39) N140I probably damaging Het
Fancg A C 4: 43,007,062 (GRCm39) H238Q probably benign Het
Fyttd1 A G 16: 32,721,031 (GRCm39) I110V probably damaging Het
G6pd2 A T 5: 61,966,753 (GRCm39) D176V probably damaging Het
Gm5114 A G 7: 39,060,826 (GRCm39) S8P probably benign Het
Hoxa1 T A 6: 52,133,878 (GRCm39) M283L probably damaging Het
Hspbp1 A T 7: 4,680,720 (GRCm39) L252H probably damaging Het
Itgb2l A T 16: 96,231,808 (GRCm39) D319E probably benign Het
Kdm6a A G X: 18,120,528 (GRCm39) T737A probably benign Het
Kmt2c A T 5: 25,610,430 (GRCm39) D225E possibly damaging Het
Lamb2 T A 9: 108,359,107 (GRCm39) Y274* probably null Het
Lratd2 A G 15: 60,695,302 (GRCm39) L148P probably damaging Het
Mamdc4 A G 2: 25,458,351 (GRCm39) L353P probably damaging Het
Msh3 A C 13: 92,436,803 (GRCm39) N502K probably damaging Het
Nalcn T C 14: 123,560,770 (GRCm39) H769R probably benign Het
Nfx1 A G 4: 41,016,119 (GRCm39) I894V probably benign Het
Notch3 G A 17: 32,366,048 (GRCm39) Q1018* probably null Het
Oas1e A G 5: 120,929,846 (GRCm39) probably null Het
Or4f14d A T 2: 111,960,426 (GRCm39) H243Q probably damaging Het
Or7g34 A G 9: 19,478,245 (GRCm39) I145T probably benign Het
Plekha4 T A 7: 45,187,722 (GRCm39) F265I probably benign Het
Rnf123 G A 9: 107,945,501 (GRCm39) R390* probably null Het
Slc9a3 T C 13: 74,313,978 (GRCm39) I762T probably benign Het
Spag1 C A 15: 36,190,658 (GRCm39) P158Q probably damaging Het
Spout1 G A 2: 30,067,938 (GRCm39) Q26* probably null Het
Sulf1 T C 1: 12,918,432 (GRCm39) Y50H probably damaging Het
Sytl5 C T X: 9,829,825 (GRCm39) probably benign Het
Tcof1 T C 18: 60,964,637 (GRCm39) E663G possibly damaging Het
Tmc3 A G 7: 83,265,148 (GRCm39) I681V probably benign Het
Tnfsf4 G T 1: 161,244,860 (GRCm39) C183F probably damaging Het
Ubqln3 A T 7: 103,790,506 (GRCm39) L528Q possibly damaging Het
Upf3a A C 8: 13,848,368 (GRCm39) Q388P probably damaging Het
Vrk1 T C 12: 106,009,144 (GRCm39) V70A probably benign Het
Other mutations in Mid2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02234:Mid2 APN X 139,664,418 (GRCm39) missense probably damaging 0.99
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 2014-05-07