Incidental Mutation 'IGL00479:Marchf6'
ID 13603
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Marchf6
Ensembl Gene ENSMUSG00000039100
Gene Name membrane associated ring-CH-type finger 6
Synonyms March6, F830029L24Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.414) question?
Stock # IGL00479
Quality Score
Status
Chromosome 15
Chromosomal Location 31456045-31531172 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 31475909 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 649 (I649T)
Ref Sequence ENSEMBL: ENSMUSP00000087694 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090227]
AlphaFold Q6ZQ89
Predicted Effect probably benign
Transcript: ENSMUST00000090227
AA Change: I649T

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000087694
Gene: ENSMUSG00000039100
AA Change: I649T

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: ENSMUST00000226868
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agrn A C 4: 156,255,029 (GRCm39) probably benign Het
Antkmt A G 17: 26,010,418 (GRCm39) Y104H probably damaging Het
Arid4a A G 12: 71,119,367 (GRCm39) K651E probably damaging Het
Atpaf2 A T 11: 60,300,410 (GRCm39) probably null Het
Cd177 G T 7: 24,457,440 (GRCm39) S200R probably benign Het
Cd209g A T 8: 4,185,622 (GRCm39) T19S probably benign Het
Cxcr4 A G 1: 128,516,792 (GRCm39) W290R probably damaging Het
D930020B18Rik T C 10: 121,521,489 (GRCm39) L491P probably damaging Het
Dnah7a T C 1: 53,458,843 (GRCm39) D3765G probably damaging Het
Dpy19l4 T G 4: 11,290,411 (GRCm39) M327L probably benign Het
Eya3 G A 4: 132,431,709 (GRCm39) G314D probably damaging Het
Fmo1 G A 1: 162,657,632 (GRCm39) T503I probably benign Het
Galnt3 A G 2: 65,925,628 (GRCm39) S370P probably damaging Het
Gm5431 A T 11: 48,786,241 (GRCm39) S45T probably benign Het
Gnai3 A G 3: 108,023,073 (GRCm39) probably benign Het
Gpat2 A G 2: 127,276,381 (GRCm39) E637G probably damaging Het
Gpr84 T C 15: 103,217,834 (GRCm39) Y81C probably damaging Het
Hnmt A T 2: 23,893,896 (GRCm39) Y199* probably null Het
Homer1 G T 13: 93,483,156 (GRCm39) R81L probably damaging Het
Hspa4 A T 11: 53,171,544 (GRCm39) probably null Het
Mcm8 A G 2: 132,659,094 (GRCm39) N26S probably benign Het
Mgat5 T C 1: 127,315,204 (GRCm39) L310P probably damaging Het
Pah T C 10: 87,414,755 (GRCm39) L369P probably benign Het
Parp4 A C 14: 56,853,917 (GRCm39) K844N possibly damaging Het
Tlr5 A G 1: 182,801,394 (GRCm39) T233A probably benign Het
Tsnaxip1 A G 8: 106,568,055 (GRCm39) T274A probably benign Het
Wdr48 A G 9: 119,734,456 (GRCm39) Y125C probably damaging Het
Other mutations in Marchf6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00902:Marchf6 APN 15 31,485,124 (GRCm39) missense probably damaging 1.00
IGL02352:Marchf6 APN 15 31,509,905 (GRCm39) missense probably damaging 1.00
IGL02359:Marchf6 APN 15 31,509,905 (GRCm39) missense probably damaging 1.00
IGL02565:Marchf6 APN 15 31,490,712 (GRCm39) splice site probably benign
IGL02735:Marchf6 APN 15 31,486,266 (GRCm39) missense probably benign 0.00
IGL02808:Marchf6 APN 15 31,478,552 (GRCm39) missense probably benign 0.32
IGL03122:Marchf6 APN 15 31,478,439 (GRCm39) critical splice donor site probably null
IGL03235:Marchf6 APN 15 31,486,141 (GRCm39) missense probably damaging 1.00
IGL03238:Marchf6 APN 15 31,462,087 (GRCm39) critical splice donor site probably benign
IGL03263:Marchf6 APN 15 31,486,508 (GRCm39) missense probably benign 0.01
ideation UTSW 15 31,482,650 (GRCm39) missense possibly damaging 0.95
R0003:Marchf6 UTSW 15 31,469,678 (GRCm39) splice site probably benign
R0056:Marchf6 UTSW 15 31,467,880 (GRCm39) missense possibly damaging 0.68
R0115:Marchf6 UTSW 15 31,475,958 (GRCm39) missense probably benign
R0126:Marchf6 UTSW 15 31,462,151 (GRCm39) missense probably benign 0.00
R0148:Marchf6 UTSW 15 31,490,758 (GRCm39) missense probably damaging 0.99
R0744:Marchf6 UTSW 15 31,480,437 (GRCm39) missense probably benign 0.00
R0833:Marchf6 UTSW 15 31,480,437 (GRCm39) missense probably benign 0.00
R1205:Marchf6 UTSW 15 31,469,819 (GRCm39) missense probably benign 0.01
R1339:Marchf6 UTSW 15 31,486,548 (GRCm39) missense probably benign 0.12
R1485:Marchf6 UTSW 15 31,498,839 (GRCm39) missense probably damaging 0.96
R1885:Marchf6 UTSW 15 31,502,952 (GRCm39) missense probably benign 0.00
R1889:Marchf6 UTSW 15 31,459,339 (GRCm39) missense possibly damaging 0.86
R1984:Marchf6 UTSW 15 31,469,792 (GRCm39) missense probably damaging 0.99
R2007:Marchf6 UTSW 15 31,462,087 (GRCm39) critical splice donor site probably null
R2046:Marchf6 UTSW 15 31,486,580 (GRCm39) missense probably benign 0.01
R2135:Marchf6 UTSW 15 31,509,910 (GRCm39) nonsense probably null
R3116:Marchf6 UTSW 15 31,486,265 (GRCm39) missense probably benign 0.00
R3710:Marchf6 UTSW 15 31,509,972 (GRCm39) splice site probably benign
R3715:Marchf6 UTSW 15 31,465,405 (GRCm39) missense probably benign 0.00
R3749:Marchf6 UTSW 15 31,462,160 (GRCm39) missense probably benign 0.00
R3944:Marchf6 UTSW 15 31,488,960 (GRCm39) missense probably benign 0.00
R4327:Marchf6 UTSW 15 31,498,887 (GRCm39) missense probably benign 0.17
R4329:Marchf6 UTSW 15 31,498,887 (GRCm39) missense probably benign 0.17
R5001:Marchf6 UTSW 15 31,465,468 (GRCm39) missense probably damaging 0.98
R5149:Marchf6 UTSW 15 31,462,140 (GRCm39) missense possibly damaging 0.53
R5654:Marchf6 UTSW 15 31,486,082 (GRCm39) missense probably damaging 1.00
R6163:Marchf6 UTSW 15 31,465,497 (GRCm39) missense probably benign
R6172:Marchf6 UTSW 15 31,483,013 (GRCm39) missense possibly damaging 0.86
R6381:Marchf6 UTSW 15 31,467,838 (GRCm39) missense probably benign 0.01
R6888:Marchf6 UTSW 15 31,459,379 (GRCm39) missense probably benign 0.00
R7347:Marchf6 UTSW 15 31,486,505 (GRCm39) missense probably benign 0.00
R8029:Marchf6 UTSW 15 31,496,148 (GRCm39) critical splice donor site probably null
R8316:Marchf6 UTSW 15 31,482,650 (GRCm39) missense possibly damaging 0.95
R8342:Marchf6 UTSW 15 31,494,262 (GRCm39) missense possibly damaging 0.91
R8431:Marchf6 UTSW 15 31,505,892 (GRCm39) nonsense probably null
R8437:Marchf6 UTSW 15 31,482,695 (GRCm39) missense possibly damaging 0.69
R8554:Marchf6 UTSW 15 31,482,976 (GRCm39) missense probably damaging 1.00
R8893:Marchf6 UTSW 15 31,498,850 (GRCm39) missense probably damaging 1.00
R9523:Marchf6 UTSW 15 31,498,845 (GRCm39) missense probably benign 0.00
Posted On 2012-12-06