Incidental Mutation 'IGL02565:March6'
ID298815
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: 0.464) question?
Stock #IGL02565
Quality Score
Status
Chromosome15
Chromosomal Location31455891-31531053 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to C at 31490566 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000087694 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090227]
Predicted Effect probably benign
Transcript: ENSMUST00000090227
SMART Domains Protein: ENSMUSP00000087694
Gene: ENSMUSG00000039100

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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921511C20Rik T A X: 127,395,054 S205R probably benign Het
Adora3 A G 3: 105,907,812 T293A probably benign Het
App T C 16: 85,025,420 probably null Het
Asap1 A G 15: 64,129,165 probably benign Het
Brinp3 T A 1: 146,902,032 V739E probably damaging Het
Bsn A G 9: 108,113,288 V1755A probably damaging Het
Clmp A C 9: 40,772,415 D147A probably damaging Het
Cntn5 A T 9: 10,145,338 C122* probably null Het
Ctsb T G 14: 63,138,410 C198G probably null Het
Cyld A T 8: 88,741,291 R702S probably damaging Het
Cyp4v3 A G 8: 45,320,637 V165A possibly damaging Het
Dpy19l4 C A 4: 11,309,440 V59F probably benign Het
Eml1 A T 12: 108,506,520 T196S probably damaging Het
Fam111a T A 19: 12,586,954 D22E probably damaging Het
Gigyf2 A G 1: 87,442,136 H1150R probably damaging Het
Grk5 T G 19: 61,069,371 F170V probably damaging Het
Heatr5a A C 12: 51,951,099 V339G possibly damaging Het
Hgd T A 16: 37,615,387 D153E possibly damaging Het
Igdcc3 T A 9: 65,180,188 L336Q probably damaging Het
Jph2 T C 2: 163,397,345 E61G probably damaging Het
Ktn1 A T 14: 47,672,934 probably benign Het
Lrch3 T A 16: 33,005,714 D634E probably benign Het
Misp T A 10: 79,826,343 I198N probably benign Het
Mmp14 C T 14: 54,440,557 P545L probably benign Het
Mon1b G T 8: 113,638,823 R261L possibly damaging Het
Muc5b T C 7: 141,857,867 S1517P unknown Het
Nae1 A T 8: 104,511,209 N518K probably damaging Het
Pglyrp4 A T 3: 90,735,487 D225V probably benign Het
Pgpep1 A G 8: 70,652,469 I47T probably damaging Het
Pip5k1c C A 10: 81,317,321 probably null Het
Pitpnc1 G A 11: 107,296,233 T88I probably damaging Het
Poldip2 T C 11: 78,517,852 I181T probably damaging Het
Ppfia2 T C 10: 106,863,386 probably null Het
Rasal1 A G 5: 120,676,780 probably benign Het
Rbms1 A G 2: 60,759,779 Y305H probably benign Het
Rnf123 A C 9: 108,052,212 probably null Het
Sec14l3 G A 11: 4,076,237 probably benign Het
Slc2a10 A C 2: 165,515,080 D220A probably damaging Het
Slc38a8 T C 8: 119,485,561 T348A probably damaging Het
Slc4a5 T C 6: 83,299,505 V1104A probably benign Het
Snrpe T C 1: 133,608,966 probably benign Het
Th C A 7: 142,899,910 V18F probably damaging Het
Ttc30b A G 2: 75,937,903 Y169H probably benign Het
Ubqln5 G A 7: 104,129,072 Q182* probably null Het
Unc5c T C 3: 141,803,919 V646A probably damaging Het
Wasf1 A G 10: 40,936,132 N306D possibly 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
IGL02735:March6 APN 15 31486120 missense probably benign 0.00
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
R8029:March6 UTSW 15 31496002 critical splice donor site probably null
Posted On2015-04-16