Incidental Mutation 'R0738:Mid2'
ID 70598
Institutional Source Beutler Lab
Gene Symbol Mid2
Ensembl Gene ENSMUSG00000000266
Gene Name midline 2
Synonyms FXY2, Trim1
MMRRC Submission 038919-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.166) question?
Stock # R0738 (G1)
Quality Score 222
Status Validated
Chromosome X
Chromosomal Location 139565348-139668464 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 139664425 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 618 (Y618C)
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: Y648C

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000108612
Gene: ENSMUSG00000000266
AA Change: Y648C

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: Y618C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000108614
Gene: ENSMUSG00000000266
AA Change: Y618C

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: Y618C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000108617
Gene: ENSMUSG00000000266
AA Change: Y618C

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
Meta Mutation Damage Score 0.8091 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.6%
  • 20x: 92.3%
Validation Efficiency 98% (46/47)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik A T 5: 99,388,812 (GRCm39) M189K probably benign Het
Ank1 A T 8: 23,604,130 (GRCm39) E964D probably damaging Het
Ankhd1 A G 18: 36,778,302 (GRCm39) probably benign Het
Cd9 G T 6: 125,439,103 (GRCm39) Q169K probably benign Het
Cdc42bpa T A 1: 179,827,027 (GRCm39) probably benign Het
Ch25h T C 19: 34,451,787 (GRCm39) N247S possibly damaging Het
Dctn1 T C 6: 83,167,089 (GRCm39) probably null Het
Defa22 C T 8: 21,652,391 (GRCm39) T19I probably benign Het
Dscam T C 16: 96,620,981 (GRCm39) N576D possibly damaging Het
Epha3 T C 16: 63,415,975 (GRCm39) M675V probably damaging Het
Fam241a C A 3: 127,664,442 (GRCm39) A120S possibly damaging Het
Fkbp8 T A 8: 70,982,320 (GRCm39) I86N probably damaging Het
Herc4 C T 10: 63,124,928 (GRCm39) P514L possibly damaging Het
Ide A T 19: 37,255,364 (GRCm39) L813* probably null Het
Igkv12-41 G A 6: 69,835,675 (GRCm39) Q26* probably null Het
Itsn2 T C 12: 4,685,681 (GRCm39) V483A probably benign Het
Kcp A T 6: 29,490,438 (GRCm39) I1002N probably benign Het
Lrfn5 G T 12: 61,887,378 (GRCm39) E389* probably null Het
Lrp6 G T 6: 134,519,008 (GRCm39) A19E probably benign Het
Mad1l1 A G 5: 140,286,315 (GRCm39) L228P probably damaging Het
Map2 T C 1: 66,464,348 (GRCm39) probably benign Het
Med13l T A 5: 118,889,698 (GRCm39) Y1820N probably damaging Het
Mgam A G 6: 40,731,869 (GRCm39) N735S probably benign Het
Mllt11 G A 3: 95,127,597 (GRCm39) Q58* probably null Het
Mttp A G 3: 137,809,074 (GRCm39) V678A probably damaging Het
Nfatc1 A G 18: 80,741,125 (GRCm39) S278P probably damaging Het
Ninj2 A G 6: 120,175,098 (GRCm39) probably benign Het
Nsd3 T A 8: 26,168,725 (GRCm39) probably null Het
Or5b102 A T 19: 13,041,102 (GRCm39) E109V probably damaging Het
Or8c17 T C 9: 38,180,421 (GRCm39) V204A possibly damaging Het
Pcdhb4 A G 18: 37,441,764 (GRCm39) N358S probably damaging Het
Plch1 T C 3: 63,609,974 (GRCm39) probably benign Het
Popdc3 T C 10: 45,191,354 (GRCm39) L155P probably damaging Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Rbm26 A T 14: 105,414,218 (GRCm39) I24N unknown Het
Rc3h2 T A 2: 37,295,386 (GRCm39) D210V probably damaging Het
Samd1 CGAGGAGGAGGAGGAGGAGGA CGAGGAGGAGGAGGAGGA 8: 84,725,625 (GRCm39) probably benign Het
Spopl T C 2: 23,427,533 (GRCm39) T200A probably benign Het
Tarbp1 A G 8: 127,165,540 (GRCm39) probably null Het
Thnsl1 T A 2: 21,218,173 (GRCm39) H121Q probably damaging Het
Tll1 T C 8: 64,554,984 (GRCm39) D233G probably damaging Het
Vmn2r27 A T 6: 124,200,661 (GRCm39) V432E possibly damaging Het
Wdr5 T C 2: 27,409,424 (GRCm39) S49P probably damaging Het
Zfyve26 A T 12: 79,342,308 (GRCm39) I46N probably damaging 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
IGL02367:Mid2 APN X 139,637,245 (GRCm39) missense probably damaging 1.00
R4789:Mid2 UTSW X 139,578,981 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGATTGGCAAGAATGCCTCTTCCTG -3'
(R):5'- GGTGGCACAAACCCAGACTATTCAG -3'

Sequencing Primer
(F):5'- GGGTCTTCTCTCGATGCAAC -3'
(R):5'- TCGAGTGCTTCCAATGGAC -3'
Posted On 2013-09-30