Incidental Mutation 'IGL03122:March6'
ID410030
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 essential (E-score: 0.525) question?
Stock #IGL03122
Quality Score
Status
Chromosome15
Chromosomal Location31455891-31531053 bp(-) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 31478293 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000087694 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090227]
Predicted Effect probably null
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5430419D17Rik A G 7: 131,196,514 Q84R possibly damaging Het
Adgrg7 G A 16: 56,770,362 probably benign Het
Afap1l1 T C 18: 61,733,831 D719G probably benign Het
Amph C T 13: 19,102,943 T274M probably damaging Het
Atp2c2 T A 8: 119,742,675 D396E possibly damaging Het
Atpaf1 T C 4: 115,791,278 I164T probably damaging Het
Avpr1b C A 1: 131,600,519 P260Q probably damaging Het
Cacna1a T C 8: 84,462,676 probably benign Het
Cald1 A G 6: 34,765,028 I449V probably damaging Het
Ccdc24 A G 4: 117,871,745 probably null Het
Cenpk C A 13: 104,242,377 Q134K probably damaging Het
Clasp1 A G 1: 118,510,277 N373D probably damaging Het
Col7a1 T A 9: 108,961,683 S1042T unknown Het
Cry2 G A 2: 92,413,295 R439C probably damaging Het
Dip2a G T 10: 76,275,046 D1138E probably benign Het
Dlgap3 T C 4: 127,195,225 S205P possibly damaging Het
Echdc2 T A 4: 108,165,580 S18T probably benign Het
Efcab2 T A 1: 178,437,477 V36E probably damaging Het
Galk1 A T 11: 116,010,239 probably null Het
Hoxc11 A T 15: 102,954,955 N144Y probably damaging Het
Ift140 T A 17: 25,086,910 C824S probably damaging Het
Inf2 A G 12: 112,604,229 S401G probably benign Het
Kcnn1 T G 8: 70,855,080 D106A probably damaging Het
Lama4 A G 10: 39,067,963 N754S probably benign Het
Nlrp1b A C 11: 71,181,833 C395G probably benign Het
Olfr136 T C 17: 38,335,301 V48A probably benign Het
Olfr1500 A G 19: 13,827,650 S249P possibly damaging Het
Olfr194 T C 16: 59,119,438 M211V probably benign Het
Olfr730 A T 14: 50,187,004 M71K probably damaging Het
Scel A G 14: 103,599,406 R477G possibly damaging Het
Sdk2 A G 11: 113,842,068 S984P probably damaging Het
Slc4a7 C T 14: 14,782,040 probably benign Het
Tas2r103 A G 6: 133,036,909 S65P probably damaging Het
Tnip2 T C 5: 34,503,751 E119G possibly damaging Het
Zgrf1 T A 3: 127,588,133 L310M 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
IGL02565:March6 APN 15 31490566 splice site probably benign
IGL02735:March6 APN 15 31486120 missense probably benign 0.00
IGL02808:March6 APN 15 31478406 missense probably benign 0.32
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 On2016-08-02