Incidental Mutation 'IGL02735:March6'
ID305611
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol March6
Ensembl Gene ENSMUSG00000039100
Gene Namemembrane-associated ring finger (C3HC4) 6
SynonymsF830029L24Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.491) question?
Stock #IGL02735
Quality Score
Status
Chromosome15
Chromosomal Location31455891-31531053 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 31486120 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 362 (S362P)
Ref Sequence ENSEMBL: ENSMUSP00000087694 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090227]
Predicted Effect probably benign
Transcript: ENSMUST00000090227
AA Change: S362P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000087694
Gene: ENSMUSG00000039100
AA Change: S362P

DomainStartEndE-ValueType
RINGv 8 56 1.13e-21 SMART
transmembrane domain 92 114 N/A INTRINSIC
transmembrane domain 141 163 N/A INTRINSIC
low complexity region 223 259 N/A INTRINSIC
transmembrane domain 290 312 N/A INTRINSIC
transmembrane domain 332 354 N/A INTRINSIC
transmembrane domain 367 389 N/A INTRINSIC
transmembrane domain 420 442 N/A INTRINSIC
transmembrane domain 480 502 N/A INTRINSIC
transmembrane domain 522 540 N/A INTRINSIC
low complexity region 574 599 N/A INTRINSIC
transmembrane domain 633 655 N/A INTRINSIC
transmembrane domain 675 697 N/A INTRINSIC
transmembrane domain 720 742 N/A INTRINSIC
transmembrane domain 762 784 N/A INTRINSIC
transmembrane domain 805 827 N/A INTRINSIC
transmembrane domain 847 866 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227757
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a family of membrane-associated E3 ubiquitin ligases containing RING-CH-type zinc finger motifs. Ubiquitination of type II deiodinase by the encoded protein is an important regulatory step in thyroid hormone signalling. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik A G 5: 99,229,377 S404P probably damaging Het
A930011G23Rik G A 5: 99,229,382 P402L probably damaging Het
Acss1 A T 2: 150,638,467 V228E probably damaging Het
Ampd1 T A 3: 103,085,377 M145K probably damaging Het
Ankhd1 G A 18: 36,648,546 S2217N probably benign Het
Asph T A 4: 9,598,759 D211V probably damaging Het
C87414 G A 5: 93,638,644 P89S possibly damaging Het
Cd55b A T 1: 130,388,676 W379R probably damaging Het
Derl3 A G 10: 75,895,116 T201A probably damaging Het
Efcab6 A G 15: 83,899,697 L1008P probably damaging Het
Eif4g3 A G 4: 138,126,211 I363V probably benign Het
Heatr5a A G 12: 51,915,021 F1058L probably damaging Het
Hmcn1 A T 1: 150,646,832 M3439K probably benign Het
Ift140 C A 17: 25,034,035 probably benign Het
Itgad A G 7: 128,193,716 Y832C probably damaging Het
Itgb2 T A 10: 77,549,999 D265E possibly damaging Het
Kif19a A T 11: 114,785,567 E449V probably damaging Het
Krt40 T C 11: 99,538,635 E291G probably damaging Het
Lama2 T C 10: 27,104,128 N1897S probably damaging Het
Lepr A G 4: 101,782,638 Y767C probably damaging Het
Lrrtm4 A G 6: 80,809,050 H546R probably benign Het
Med12l A G 3: 59,093,646 Y734C probably damaging Het
Mrps18a C T 17: 46,122,799 R74C probably damaging Het
Mvk A G 5: 114,450,819 E174G probably benign Het
Naip2 A G 13: 100,160,214 S1105P probably damaging Het
Nrxn3 A G 12: 89,254,854 M468V probably benign Het
Obscn T C 11: 59,093,349 E1760G probably damaging Het
Pcsk5 C A 19: 17,675,468 G285W probably damaging Het
Pgpep1l A G 7: 68,236,973 I196T probably benign Het
Phf14 T C 6: 11,987,612 M630T probably benign Het
Plod2 T C 9: 92,595,389 probably benign Het
Poldip2 G A 11: 78,512,336 A9T probably benign Het
Pou2f1 A G 1: 165,875,827 S718P probably damaging Het
Ptpre A T 7: 135,667,567 Y246F probably damaging Het
Pudp T C 18: 50,568,332 H110R probably benign Het
Scaf4 C T 16: 90,245,515 G646E unknown Het
Sec16a T A 2: 26,428,137 probably benign Het
Serpina5 A G 12: 104,103,857 T338A probably benign Het
Shisa5 T G 9: 109,056,012 F118V probably damaging Het
Slc6a21 G A 7: 45,286,637 probably benign Het
Sprtn T A 8: 124,903,387 V473E probably benign Het
Styxl1 A G 5: 135,759,142 I165T probably damaging Het
Tal2 T A 4: 53,785,906 I29N probably damaging Het
Tas2r134 T C 2: 51,627,827 I106T probably damaging Het
Tmem259 G A 10: 79,979,139 T217I probably damaging Het
Trpc6 T C 9: 8,655,338 I723T probably damaging Het
Vmn1r211 A T 13: 22,852,248 V83D probably damaging Het
Vmn2r103 G T 17: 19,812,248 M761I probably benign Het
Ybey A T 10: 76,468,326 I14N probably damaging Het
Other mutations in March6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00479:March6 APN 15 31475763 missense probably benign 0.00
IGL00902:March6 APN 15 31484978 missense probably damaging 1.00
IGL02352:March6 APN 15 31509759 missense probably damaging 1.00
IGL02359:March6 APN 15 31509759 missense probably damaging 1.00
IGL02565:March6 APN 15 31490566 splice site probably benign
IGL02808:March6 APN 15 31478406 missense probably benign 0.32
IGL03122:March6 APN 15 31478293 critical splice donor site probably null
IGL03235:March6 APN 15 31485995 missense probably damaging 1.00
IGL03238:March6 APN 15 31461941 critical splice donor site probably benign
IGL03263:March6 APN 15 31486362 missense probably benign 0.01
R0003:March6 UTSW 15 31469532 splice site probably benign
R0056:March6 UTSW 15 31467734 missense possibly damaging 0.68
R0115:March6 UTSW 15 31475812 missense probably benign
R0126:March6 UTSW 15 31462005 missense probably benign 0.00
R0148:March6 UTSW 15 31490612 missense probably damaging 0.99
R0744:March6 UTSW 15 31480291 missense probably benign 0.00
R0833:March6 UTSW 15 31480291 missense probably benign 0.00
R1205:March6 UTSW 15 31469673 missense probably benign 0.01
R1339:March6 UTSW 15 31486402 missense probably benign 0.12
R1485:March6 UTSW 15 31498693 missense probably damaging 0.96
R1885:March6 UTSW 15 31502806 missense probably benign 0.00
R1889:March6 UTSW 15 31459193 missense possibly damaging 0.86
R1984:March6 UTSW 15 31469646 missense probably damaging 0.99
R2007:March6 UTSW 15 31461941 critical splice donor site probably null
R2046:March6 UTSW 15 31486434 missense probably benign 0.01
R2135:March6 UTSW 15 31509764 nonsense probably null
R3116:March6 UTSW 15 31486119 missense probably benign 0.00
R3710:March6 UTSW 15 31509826 splice site probably benign
R3715:March6 UTSW 15 31465259 missense probably benign 0.00
R3749:March6 UTSW 15 31462014 missense probably benign 0.00
R3944:March6 UTSW 15 31488814 missense probably benign 0.00
R4327:March6 UTSW 15 31498741 missense probably benign 0.17
R4329:March6 UTSW 15 31498741 missense probably benign 0.17
R5001:March6 UTSW 15 31465322 missense probably damaging 0.98
R5149:March6 UTSW 15 31461994 missense possibly damaging 0.53
R5654:March6 UTSW 15 31485936 missense probably damaging 1.00
R6163:March6 UTSW 15 31465351 missense probably benign
R6172:March6 UTSW 15 31482867 missense possibly damaging 0.86
R6381:March6 UTSW 15 31467692 missense probably benign 0.01
R6888:March6 UTSW 15 31459233 missense probably benign 0.00
R7347:March6 UTSW 15 31486359 missense probably benign 0.00
Posted On2015-04-16