Incidental Mutation 'R8554:Marchf6'
ID 660041
Institutional Source Beutler Lab
Gene Symbol Marchf6
Ensembl Gene ENSMUSG00000039100
Gene Name membrane associated ring-CH-type finger 6
Synonyms March6, F830029L24Rik
MMRRC Submission 068517-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.414) question?
Stock # R8554 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 31456045-31531172 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 31482976 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Tyrosine at position 476 (H476Y)
Ref Sequence ENSEMBL: ENSMUSP00000087694 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090227]
AlphaFold Q6ZQ89
Predicted Effect probably damaging
Transcript: ENSMUST00000090227
AA Change: H476Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000087694
Gene: ENSMUSG00000039100
AA Change: H476Y

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adtrp G A 13: 41,969,636 (GRCm39) T89I possibly damaging Het
Aopep T A 13: 63,444,711 (GRCm39) Y94N possibly damaging Het
Apc T C 18: 34,445,999 (GRCm39) V947A probably damaging Het
Apob A C 12: 8,037,830 (GRCm39) K334N probably damaging Het
Camk2d A T 3: 126,564,448 (GRCm39) Q119L possibly damaging Het
Ccdc60 A T 5: 116,328,171 (GRCm39) F98I probably damaging Het
Cd47 A G 16: 49,688,304 (GRCm39) T22A probably benign Het
Crat A G 2: 30,300,035 (GRCm39) V115A probably benign Het
Csmd3 T C 15: 47,507,538 (GRCm39) M2992V probably benign Het
Dsg4 T A 18: 20,586,100 (GRCm39) N263K probably damaging Het
Eln A C 5: 134,738,964 (GRCm39) probably benign Het
Ep300 A G 15: 81,523,228 (GRCm39) E1284G unknown Het
Fam193a T A 5: 34,633,115 (GRCm39) M122K probably benign Het
Fcgr1 A T 3: 96,199,788 (GRCm39) W40R probably damaging Het
Gm3486 T A 14: 41,209,119 (GRCm39) Q84L probably damaging Het
Golga2 G A 2: 32,183,357 (GRCm39) D80N probably damaging Het
Isg20 T C 7: 78,566,425 (GRCm39) Y125H probably benign Het
Kdf1 A G 4: 133,256,188 (GRCm39) I302V probably damaging Het
Kics2 T A 10: 121,575,960 (GRCm39) I27N probably benign Het
Krt33a T A 11: 99,903,209 (GRCm39) T278S possibly damaging Het
Lrp1b T A 2: 41,234,495 (GRCm39) Q1038L probably benign Het
Myom1 A G 17: 71,343,448 (GRCm39) E215G possibly damaging Het
Or2aa1 A T 11: 59,480,312 (GRCm39) L201Q possibly damaging Het
Or2h15 T A 17: 38,441,489 (GRCm39) Q198L probably damaging Het
Or4c122 T C 2: 89,079,595 (GRCm39) T148A possibly damaging Het
Pate11 A G 9: 36,387,788 (GRCm39) I25V probably benign Het
Pdlim2 T A 14: 70,408,698 (GRCm39) T173S probably benign Het
Pitpnb T C 5: 111,494,372 (GRCm39) M74T probably benign Het
Pou2f2 C A 7: 24,814,981 (GRCm39) probably benign Het
Rab35 A C 5: 115,783,690 (GRCm39) probably null Het
Rasef A T 4: 73,645,844 (GRCm39) D508E probably benign Het
Rev3l T C 10: 39,682,838 (GRCm39) S319P probably benign Het
Rftn1 G T 17: 50,354,408 (GRCm39) A318D probably damaging Het
Rgl3 A G 9: 21,900,159 (GRCm39) S44P probably benign Het
Rnf214 C A 9: 45,778,797 (GRCm39) probably null Het
Rpsa T C 9: 119,958,317 (GRCm39) V76A possibly damaging Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,229,130 (GRCm39) probably benign Het
Senp7 T C 16: 55,978,973 (GRCm39) V529A probably benign Het
Siglecg C T 7: 43,058,320 (GRCm39) S69L probably benign Het
Sos1 G T 17: 80,705,842 (GRCm39) T1243K probably damaging Het
Tent5a T C 9: 85,208,784 (GRCm39) D13G possibly damaging Het
Tlcd3a A G 11: 76,096,244 (GRCm39) H124R probably damaging Het
Tmc2 A G 2: 130,106,084 (GRCm39) T872A probably benign Het
Tnfrsf8 A C 4: 145,023,511 (GRCm39) C107W probably damaging Het
Tnn T C 1: 159,937,986 (GRCm39) Y913C probably damaging Het
Ttn T C 2: 76,568,376 (GRCm39) T19179A probably damaging Het
Usp42 T A 5: 143,706,137 (GRCm39) K294N probably damaging Het
Vmn1r123 T A 7: 20,896,971 (GRCm39) C288S probably benign Het
Vmn1r29 T A 6: 58,285,191 (GRCm39) *304K probably null Het
Vmn2r1 T C 3: 63,997,334 (GRCm39) I330T probably damaging Het
Vmn2r16 A G 5: 109,511,997 (GRCm39) I735V probably benign Het
Vmn2r65 T C 7: 84,595,960 (GRCm39) I241M probably benign Het
Other mutations in Marchf6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00479:Marchf6 APN 15 31,475,909 (GRCm39) missense probably benign 0.00
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
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
Predicted Primers PCR Primer
(F):5'- AGGCACAACCCTACTGTGAG -3'
(R):5'- TGTTTTCAGCCAGGTTTTCCAG -3'

Sequencing Primer
(F):5'- ACTTGGTAACTATGCTCCACAGG -3'
(R):5'- CAGCCAGGTTTTCCAGTTTATG -3'
Posted On 2021-01-18