Incidental Mutation 'R1889:Marchf6'
ID 209854
Institutional Source Beutler Lab
Gene Symbol Marchf6
Ensembl Gene ENSMUSG00000039100
Gene Name membrane associated ring-CH-type finger 6
Synonyms March6, F830029L24Rik
MMRRC Submission 039910-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.414) question?
Stock # R1889 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 31456045-31531172 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 31459339 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 909 (E909G)
Ref Sequence ENSEMBL: ENSMUSP00000087694 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090227]
AlphaFold Q6ZQ89
Predicted Effect possibly damaging
Transcript: ENSMUST00000090227
AA Change: E909G

PolyPhen 2 Score 0.855 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000087694
Gene: ENSMUSG00000039100
AA Change: E909G

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: ENSMUST00000227135
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228386
Meta Mutation Damage Score 0.1946 question?
Coding Region Coverage
  • 1x: 97.1%
  • 3x: 96.2%
  • 10x: 93.6%
  • 20x: 88.0%
Validation Efficiency 97% (103/106)
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: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930579C12Rik A G 9: 89,034,815 (GRCm39) noncoding transcript Het
9130008F23Rik T C 17: 41,191,193 (GRCm39) R79G probably damaging Het
Aco1 A T 4: 40,164,607 (GRCm39) probably null Het
Acp6 C T 3: 97,073,201 (GRCm39) R81W probably damaging Het
Agbl1 A C 7: 76,239,129 (GRCm39) Y543S probably damaging Het
Anapc7 T C 5: 122,571,539 (GRCm39) W205R probably damaging Het
Ap1g2 T A 14: 55,338,886 (GRCm39) M532L probably damaging Het
Appl1 A G 14: 26,647,470 (GRCm39) probably benign Het
Arhgef19 T C 4: 140,976,624 (GRCm39) F462S probably damaging Het
Astn1 A G 1: 158,332,886 (GRCm39) probably null Het
AU015836 T C X: 93,012,985 (GRCm39) probably benign Het
Cacna1c C T 6: 118,589,586 (GRCm39) R1446H probably damaging Het
Cadm2 T C 16: 66,679,683 (GRCm39) D50G probably damaging Het
Ccdc81 G A 7: 89,531,502 (GRCm39) Q324* probably null Het
Cd300lf A G 11: 115,011,206 (GRCm39) V178A probably benign Het
Cdt1 T C 8: 123,298,791 (GRCm39) V476A possibly damaging Het
Cenpj A G 14: 56,796,182 (GRCm39) V225A probably benign Het
Cep295 T C 9: 15,243,399 (GRCm39) T1686A possibly damaging Het
Cfap54 A G 10: 92,870,572 (GRCm39) S684P possibly damaging Het
Clip1 C A 5: 123,791,559 (GRCm39) V204F probably damaging Het
Cnpy4 A G 5: 138,191,102 (GRCm39) E226G probably benign Het
Col6a3 T A 1: 90,731,433 (GRCm39) M1000L probably benign Het
Cpsf1 T C 15: 76,486,356 (GRCm39) M335V probably benign Het
Dnmt3b C A 2: 153,518,679 (GRCm39) A614E probably benign Het
Dpm1 C T 2: 168,059,655 (GRCm39) R147Q possibly damaging Het
Dpp7 G T 2: 25,243,691 (GRCm39) probably null Het
Engase T C 11: 118,369,759 (GRCm39) F57S probably damaging Het
Epb41l5 T C 1: 119,476,902 (GRCm39) D718G possibly damaging Het
Fam20a T C 11: 109,564,380 (GRCm39) K458E probably benign Het
Fbxo44 C G 4: 148,240,726 (GRCm39) R220S probably damaging Het
Gkn2 T A 6: 87,355,137 (GRCm39) Y115* probably null Het
Gtdc1 A G 2: 44,481,926 (GRCm39) S246P probably damaging Het
H2-Q2 A G 17: 35,564,152 (GRCm39) D302G probably benign Het
Herc2 C T 7: 55,839,561 (GRCm39) S3357L possibly damaging Het
Herc6 T A 6: 57,639,060 (GRCm39) Y840* probably null Het
Hoxa10 GGCTGCTGCTGCTGCTGCTG GGCTGCTGCTGCTGCTG 6: 52,211,472 (GRCm39) probably benign Het
Ift122 T C 6: 115,871,382 (GRCm39) probably null Het
Ilf3 T A 9: 21,316,063 (GRCm39) probably benign Het
Itgb2 A T 10: 77,384,457 (GRCm39) N193Y possibly damaging Het
Itgb5 T G 16: 33,730,839 (GRCm39) I65S probably damaging Het
Jpt2 T C 17: 25,179,585 (GRCm39) M1V probably null Het
Kcnt2 A T 1: 140,512,031 (GRCm39) H995L probably damaging Het
Kif20b T C 19: 34,918,608 (GRCm39) probably benign Het
Kif7 T C 7: 79,360,211 (GRCm39) Y342C probably damaging Het
Klhl21 T C 4: 152,099,877 (GRCm39) V529A possibly damaging Het
Klhl26 T C 8: 70,904,383 (GRCm39) D475G probably damaging Het
Lcor T C 19: 41,547,567 (GRCm39) Y384H probably damaging Het
Lrp1b A T 2: 40,809,179 (GRCm39) C2463* probably null Het
Mrc1 A T 2: 14,313,488 (GRCm39) probably null Het
Mtrex T C 13: 113,024,024 (GRCm39) N707S probably benign Het
Nipal4 T A 11: 46,041,560 (GRCm39) I212F probably damaging Het
Nup98 T A 7: 101,809,923 (GRCm39) T536S probably damaging Het
Nwd2 A G 5: 63,965,009 (GRCm39) E1531G possibly damaging Het
Nxpe2 T C 9: 48,237,914 (GRCm39) T114A probably damaging Het
Oosp1 C T 19: 11,645,158 (GRCm39) V169I possibly damaging Het
Opa1 T C 16: 29,444,403 (GRCm39) V863A possibly damaging Het
Or5ac22 T G 16: 59,135,326 (GRCm39) Y148S probably damaging Het
Pabpc4l A T 3: 46,400,798 (GRCm39) M282K probably benign Het
Parp14 G A 16: 35,677,130 (GRCm39) A946V probably benign Het
Pcnx3 T C 19: 5,722,684 (GRCm39) D1336G probably damaging Het
Phlpp1 T C 1: 106,246,580 (GRCm39) V590A possibly damaging Het
Rbck1 T A 2: 152,160,276 (GRCm39) T468S probably damaging Het
Ripor2 T A 13: 24,877,870 (GRCm39) I290N probably damaging Het
Rnf139 T C 15: 58,771,346 (GRCm39) L457P probably damaging Het
Rtn1 C A 12: 72,351,184 (GRCm39) A342S possibly damaging Het
Sema3d A G 5: 12,534,988 (GRCm39) probably null Het
Serpinb2 T A 1: 107,452,337 (GRCm39) V305D probably damaging Het
Sez6l2 T C 7: 126,552,668 (GRCm39) V148A probably damaging Het
Shank2 C A 7: 143,740,595 (GRCm39) S568* probably null Het
Slc10a4 T C 5: 73,169,490 (GRCm39) S372P possibly damaging Het
Slc10a5 T C 3: 10,400,550 (GRCm39) T37A probably benign Het
Slc14a1 T C 18: 78,152,912 (GRCm39) I276V possibly damaging Het
Slc6a20b G T 9: 123,461,269 (GRCm39) D52E probably benign Het
Slc6a5 T C 7: 49,601,182 (GRCm39) M661T probably benign Het
Ssh2 C G 11: 77,340,571 (GRCm39) D574E probably damaging Het
Steap4 G T 5: 8,025,892 (GRCm39) R151L probably damaging Het
Sun5 T A 2: 153,707,915 (GRCm39) I107L probably benign Het
Tacc1 C T 8: 25,665,269 (GRCm39) V488M probably damaging Het
Tgs1 A G 4: 3,614,928 (GRCm39) T829A probably benign Het
Tnxb A G 17: 34,914,799 (GRCm39) E1929G probably damaging Het
Tssc4 A C 7: 142,624,292 (GRCm39) Q200P probably damaging Het
Ttn A G 2: 76,588,876 (GRCm39) W21398R probably damaging Het
Usp50 C T 2: 126,619,818 (GRCm39) probably null Het
Usp9y A T Y: 1,448,829 (GRCm39) probably null Het
V1rd19 T A 7: 23,702,632 (GRCm39) F33I probably benign Het
Zfat T C 15: 67,973,388 (GRCm39) T1118A 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
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
Predicted Primers PCR Primer
(F):5'- AGCAGTGATGTCGGCAGATG -3'
(R):5'- CTCTAGCCTGCCTCTTGAAAG -3'

Sequencing Primer
(F):5'- TGTCGGCAGATGCAGGG -3'
(R):5'- GCCTCTTGAAAGGTTGCTAGTAAGC -3'
Posted On 2014-06-30