Incidental Mutation 'IGL02590:Mid1'
ID 299713
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mid1
Ensembl Gene ENSMUSG00000035299
Gene Name midline 1
Synonyms Fxy, Trim18, 61B3-R, DXHXS1141
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02590
Quality Score
Status
Chromosome X
Chromosomal Location 168468178-168773794 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 168710019 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 5 (E5G)
Ref Sequence ENSEMBL: ENSMUSP00000126746 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036753] [ENSMUST00000078947] [ENSMUST00000112104] [ENSMUST00000112105] [ENSMUST00000112107] [ENSMUST00000163810] [ENSMUST00000171433]
AlphaFold O70583
Predicted Effect probably damaging
Transcript: ENSMUST00000036753
AA Change: E5G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000038765
Gene: ENSMUSG00000035299
AA Change: E5G

DomainStartEndE-ValueType
RING 10 59 4.41e-6 SMART
BBOX 114 164 2.8e-8 SMART
BBOX 170 212 9.8e-13 SMART
BBC 219 345 1.5e-16 SMART
FN3 381 485 1.53e-6 SMART
Pfam:PRY 499 548 7.3e-11 PFAM
SPRY 551 670 1.12e-31 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000078947
AA Change: E5G

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000077974
Gene: ENSMUSG00000035299
AA Change: E5G

DomainStartEndE-ValueType
RING 10 59 4.41e-6 SMART
BBOX 114 164 2.8e-8 SMART
BBC 181 307 1.47e-15 SMART
FN3 343 447 1.53e-6 SMART
Pfam:PRY 461 510 2.6e-11 PFAM
SPRY 513 632 1.12e-31 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000112104
AA Change: E5G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107732
Gene: ENSMUSG00000035299
AA Change: E5G

DomainStartEndE-ValueType
RING 10 59 4.41e-6 SMART
BBOX 114 164 2.8e-8 SMART
BBOX 170 212 9.8e-13 SMART
BBC 219 345 1.5e-16 SMART
FN3 381 485 1.53e-6 SMART
Pfam:PRY 499 548 7.3e-11 PFAM
SPRY 551 670 1.12e-31 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000112105
AA Change: E5G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107733
Gene: ENSMUSG00000035299
AA Change: E5G

DomainStartEndE-ValueType
RING 10 59 4.41e-6 SMART
BBOX 114 164 2.8e-8 SMART
BBOX 170 212 9.8e-13 SMART
BBC 219 345 1.5e-16 SMART
FN3 381 485 1.53e-6 SMART
Pfam:PRY 499 548 9.4e-12 PFAM
SPRY 551 670 1.12e-31 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000112107
SMART Domains Protein: ENSMUSP00000107735
Gene: ENSMUSG00000035299

DomainStartEndE-ValueType
BBC 13 139 5.05e-14 SMART
FN3 175 279 1.53e-6 SMART
Pfam:PRY 293 342 1.7e-11 PFAM
SPRY 345 464 1.12e-31 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149258
Predicted Effect probably damaging
Transcript: ENSMUST00000163810
AA Change: E5G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000128176
Gene: ENSMUSG00000035299
AA Change: E5G

DomainStartEndE-ValueType
RING 10 59 4.41e-6 SMART
BBOX 114 164 2.8e-8 SMART
BBOX 170 212 9.8e-13 SMART
BBC 219 345 1.5e-16 SMART
FN3 381 485 1.53e-6 SMART
Pfam:PRY 499 548 7.3e-11 PFAM
SPRY 551 670 1.12e-31 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000171433
AA Change: E5G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000126746
Gene: ENSMUSG00000035299
AA Change: E5G

DomainStartEndE-ValueType
RING 10 59 4.41e-6 SMART
BBOX 114 164 2.8e-8 SMART
BBOX 170 212 9.8e-13 SMART
BBC 219 345 1.5e-16 SMART
FN3 381 485 1.53e-6 SMART
Pfam:PRY 499 548 7.3e-11 PFAM
SPRY 551 670 1.12e-31 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, also known as the 'RING-B box-coiled coil' (RBCC) subgroup of RING finger proteins. 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. This protein forms homodimers which associate with microtubules in the cytoplasm. The protein is likely involved in the formation of multiprotein structures acting as anchor points to microtubules. Mutations in this gene have been associated with the X-linked form of Opitz syndrome, which is characterized by midline abnormalities such as cleft lip, laryngeal cleft, heart defects, hypospadias, and agenesis of the corpus callosum. This gene was also the first example of a gene subject to X inactivation in human while escaping it in mouse. Alternative promoter use, alternative splicing and alternative polyadenylation result in multiple transcript variants that have different tissue specificities. [provided by RefSeq, Dec 2016]
PHENOTYPE: Mice homozygous or hemizygous for disruptions in this gene have a normal phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl3 A G 4: 144,184,404 (GRCm39) F118S probably damaging Het
Adam5 T G 8: 25,234,151 (GRCm39) probably benign Het
Bok T C 1: 93,614,397 (GRCm39) probably benign Het
C1s1 C T 6: 124,508,235 (GRCm39) V585I possibly damaging Het
Chd2 C T 7: 73,102,948 (GRCm39) V1346I probably benign Het
Cyb5a A T 18: 84,889,732 (GRCm39) T54S probably benign Het
Dnah7b A T 1: 46,162,937 (GRCm39) T428S probably benign Het
Efhc1 T C 1: 21,037,608 (GRCm39) Y262H probably damaging Het
Fyb2 A T 4: 104,836,250 (GRCm39) I404F probably damaging Het
Glra2 T C X: 164,037,222 (GRCm39) N237S probably benign Het
Gypc A G 18: 32,663,060 (GRCm39) *96R probably null Het
Il15 T C 8: 83,069,912 (GRCm39) I51V probably benign Het
Itgb2 T C 10: 77,395,347 (GRCm39) C483R probably damaging Het
Kdr C T 5: 76,096,983 (GRCm39) D1272N probably benign Het
Kif14 C A 1: 136,423,742 (GRCm39) T969K probably benign Het
Klhl42 T C 6: 146,993,810 (GRCm39) S261P probably damaging Het
Lrp1 C A 10: 127,388,660 (GRCm39) G3263V probably damaging Het
Mmrn2 T A 14: 34,121,224 (GRCm39) L698* probably null Het
Myh14 T G 7: 44,273,503 (GRCm39) Q1393P probably damaging Het
Ncoa7 C T 10: 30,570,159 (GRCm39) E267K probably damaging Het
Obox5 T C 7: 15,491,517 (GRCm39) I19T possibly damaging Het
Or13a20 A G 7: 140,232,305 (GRCm39) probably null Het
Or8k22 A G 2: 86,163,344 (GRCm39) S119P possibly damaging Het
Pcnx1 A G 12: 82,041,752 (GRCm39) Y2128C probably damaging Het
Plcb1 A G 2: 135,136,784 (GRCm39) D293G probably benign Het
Prpf4b T C 13: 35,072,129 (GRCm39) probably benign Het
Psapl1 A T 5: 36,362,397 (GRCm39) T330S probably benign Het
Rap1gap A G 4: 137,447,611 (GRCm39) T453A probably damaging Het
Ric1 T A 19: 29,544,881 (GRCm39) probably benign Het
Robo1 A G 16: 72,840,020 (GRCm39) E1590G probably benign Het
Sorl1 C T 9: 41,957,857 (GRCm39) V596I probably benign Het
Tlr12 A G 4: 128,511,182 (GRCm39) I356T probably benign Het
Trav8d-2 T C 14: 53,279,906 (GRCm39) S8P possibly damaging Het
Tyms C A 5: 30,269,149 (GRCm39) V75L probably benign Het
Vmn1r230 T A 17: 21,067,172 (GRCm39) S120R probably damaging Het
Vmn2r84 T A 10: 130,227,356 (GRCm39) probably benign Het
Wdr27 C T 17: 15,138,041 (GRCm39) A388T possibly damaging Het
Other mutations in Mid1
AlleleSourceChrCoordTypePredicted EffectPPH Score
LCD18:Mid1 UTSW X 168,788,560 (GRCm39) unclassified probably benign
R1317:Mid1 UTSW X 168,769,090 (GRCm39) missense probably damaging 1.00
R1364:Mid1 UTSW X 168,769,090 (GRCm39) missense probably damaging 1.00
R1366:Mid1 UTSW X 168,769,090 (GRCm39) missense probably damaging 1.00
R4452:Mid1 UTSW X 168,710,421 (GRCm39) missense possibly damaging 0.62
R4678:Mid1 UTSW X 168,768,044 (GRCm39) missense possibly damaging 0.79
R7100:Mid1 UTSW X 168,768,073 (GRCm39) missense probably benign 0.43
R7554:Mid1 UTSW X 168,769,010 (GRCm39) missense possibly damaging 0.93
R8510:Mid1 UTSW X 168,768,019 (GRCm39) missense probably benign 0.03
R8979:Mid1 UTSW X 168,768,009 (GRCm39) missense probably benign
R8979:Mid1 UTSW X 168,768,003 (GRCm39) missense probably benign
R9322:Mid1 UTSW X 168,768,003 (GRCm39) missense probably benign
R9650:Mid1 UTSW X 168,768,003 (GRCm39) missense probably benign
Posted On 2015-04-16