Incidental Mutation 'R4329:Marchf6'
ID 397273
Institutional Source Beutler Lab
Gene Symbol Marchf6
Ensembl Gene ENSMUSG00000039100
Gene Name membrane associated ring-CH-type finger 6
Synonyms March6, F830029L24Rik
MMRRC Submission 041663-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.414) question?
Stock # R4329 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 31456045-31531172 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 31498887 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 137 (E137K)
Ref Sequence ENSEMBL: ENSMUSP00000087694 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090227]
AlphaFold Q6ZQ89
Predicted Effect probably benign
Transcript: ENSMUST00000090227
AA Change: E137K

PolyPhen 2 Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000087694
Gene: ENSMUSG00000039100
AA Change: E137K

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: ENSMUST00000226207
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228122
Meta Mutation Damage Score 0.0693 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 96% (68/71)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900026A02Rik C A 5: 113,243,455 (GRCm39) probably null Het
Adamts15 T C 9: 30,815,814 (GRCm39) S681G probably benign Het
Ampd2 C A 3: 107,985,103 (GRCm39) probably benign Het
Ang2 A T 14: 51,433,325 (GRCm39) I19N possibly damaging Het
Brd10 G T 19: 29,720,961 (GRCm39) T688K probably benign Het
Cacna1s A C 1: 136,046,771 (GRCm39) D1819A probably benign Het
Cand2 C A 6: 115,776,949 (GRCm39) H1112Q possibly damaging Het
Catsperd T A 17: 56,961,517 (GRCm39) I413K possibly damaging Het
Ccdc142 T A 6: 83,083,997 (GRCm39) probably benign Het
Cd55 A T 1: 130,380,220 (GRCm39) C253S probably damaging Het
Celsr3 C T 9: 108,723,248 (GRCm39) R2847C probably benign Het
Cep290 C T 10: 100,373,530 (GRCm39) S1270L probably damaging Het
Chka T C 19: 3,925,803 (GRCm39) probably benign Het
Cntnap5b T A 1: 99,999,888 (GRCm39) D215E probably damaging Het
Col13a1 T C 10: 61,699,758 (GRCm39) T476A unknown Het
Cspg4 T C 9: 56,799,749 (GRCm39) F1539L probably damaging Het
Cwf19l2 A T 9: 3,458,878 (GRCm39) I776F probably damaging Het
Dchs1 A T 7: 105,402,966 (GRCm39) I3192N probably damaging Het
Dnah7c T A 1: 46,688,441 (GRCm39) D1870E probably benign Het
Drc1 A T 5: 30,513,002 (GRCm39) I359L probably benign Het
Esp1 A G 17: 41,039,768 (GRCm39) M18V probably benign Het
Exoc1 T A 5: 76,715,822 (GRCm39) F789L probably damaging Het
Fbxw22 T A 9: 109,213,111 (GRCm39) T279S probably damaging Het
Frem1 G A 4: 82,904,774 (GRCm39) A880V probably benign Het
Gm29514 A G 1: 146,296,429 (GRCm39) noncoding transcript Het
Grm7 T C 6: 110,891,325 (GRCm39) L186P probably damaging Het
Ipo8 A T 6: 148,701,662 (GRCm39) probably benign Het
Klk4 A G 7: 43,533,830 (GRCm39) D202G probably damaging Het
Mpp3 T C 11: 101,914,337 (GRCm39) probably benign Het
Mroh2b T A 15: 4,960,861 (GRCm39) Y808N probably damaging Het
Myom1 C T 17: 71,343,348 (GRCm39) L182F probably damaging Het
Nova1 A T 12: 46,767,615 (GRCm39) I102N unknown Het
Or7g34 T A 9: 19,478,318 (GRCm39) M121L possibly damaging Het
Pak3 T C X: 142,516,205 (GRCm39) probably null Het
Palm G A 10: 79,643,520 (GRCm39) G83S probably benign Het
Patl2 C T 2: 121,958,018 (GRCm39) S80N probably benign Het
Pcdhb9 A T 18: 37,534,875 (GRCm39) S290C probably benign Het
Pcdhb9 G T 18: 37,534,876 (GRCm39) S290I probably benign Het
Pdgfrb A T 18: 61,204,792 (GRCm39) I551F possibly damaging Het
Pkmyt1 T A 17: 23,951,709 (GRCm39) Y88N probably damaging Het
Pnkp T C 7: 44,508,018 (GRCm39) S114P probably benign Het
Rdm1 T A 11: 101,521,734 (GRCm39) V92E probably damaging Het
Sema4d T C 13: 51,857,340 (GRCm39) R631G probably benign Het
Sin3a T C 9: 57,002,642 (GRCm39) L178P probably damaging Het
Skint9 A C 4: 112,249,062 (GRCm39) L122R probably damaging Het
Slc16a13 T C 11: 70,108,723 (GRCm39) N369S probably benign Het
Strada A G 11: 106,077,999 (GRCm39) probably benign Het
Tnxb C A 17: 34,912,838 (GRCm39) S1784Y probably damaging Het
Trpc2 T C 7: 101,736,727 (GRCm39) V318A probably damaging Het
Ttc3 G A 16: 94,267,820 (GRCm39) R1589H probably damaging Het
Ttyh1 A T 7: 4,133,580 (GRCm39) D295V probably damaging Het
Unc5b A G 10: 60,618,969 (GRCm39) Y58H probably damaging Het
Xylt1 G A 7: 117,255,684 (GRCm39) G752D probably damaging Het
Yipf7 A T 5: 69,678,465 (GRCm39) L55Q probably damaging Het
Zfp827 G A 8: 79,916,463 (GRCm39) probably benign Het
Zfta A G 19: 7,398,591 (GRCm39) 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
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'- ACCTCATTTTGGTGGTGTCCAG -3'
(R):5'- TTAGCCATGCTAAAAGAATAGGGTG -3'

Sequencing Primer
(F):5'- TGTCCAGCAGCATTGAAGG -3'
(R):5'- CCATGCTAAAAGAATAGGGTGGATAG -3'
Posted On 2016-07-05