Incidental Mutation 'R0052:Mmd'
Institutional Source Beutler Lab
Gene Symbol Mmd
Ensembl Gene ENSMUSG00000003948
Gene Namemonocyte to macrophage differentiation-associated
Synonyms1200017E07Rik, 1810073C06Rik
MMRRC Submission 038346-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.236) question?
Stock #R0052 (G1)
Quality Score
Status Validated
Chromosomal Location90249456-90278589 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) C to T at 90259998 bp
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000103519 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004050] [ENSMUST00000107887]
Predicted Effect probably benign
Transcript: ENSMUST00000004050
SMART Domains Protein: ENSMUSP00000004050
Gene: ENSMUSG00000003948

low complexity region 1 14 N/A INTRINSIC
Pfam:HlyIII 24 220 9.9e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107887
SMART Domains Protein: ENSMUSP00000103519
Gene: ENSMUSG00000003948

low complexity region 1 14 N/A INTRINSIC
Pfam:HlyIII 23 179 8.8e-35 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210131
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211334
Meta Mutation Damage Score 0.064 question?
Coding Region Coverage
  • 1x: 85.5%
  • 3x: 78.2%
  • 10x: 46.7%
  • 20x: 12.5%
Validation Efficiency 90% (62/69)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This protein is expressed by in vitro differentiated macrophages but not freshly isolated monocytes. Although sequence analysis identifies seven potential transmembrane domains, this protein has little homology to G-protein receptors and it has not been positively identified as a receptor. A suggested alternative function is that of an ion channel protein in maturing macrophages. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apba1 T C 19: 23,915,951 S438P possibly damaging Het
Atp2a1 A G 7: 126,457,897 probably benign Het
Bicd2 T A 13: 49,375,314 L184Q probably damaging Het
Bub1 G A 2: 127,809,039 T618I probably benign Het
Dsp A G 13: 38,197,364 D2096G possibly damaging Het
Eno4 A G 19: 58,968,553 D357G probably damaging Het
Fam214a A G 9: 75,018,983 probably benign Het
Fcrls A T 3: 87,256,778 I348N possibly damaging Het
Fgl2 A T 5: 21,375,349 S230C probably damaging Het
Ginm1 T A 10: 7,779,306 E57D possibly damaging Het
Itga9 T A 9: 118,636,549 I157N probably damaging Het
Kif21a T C 15: 90,970,857 E700G probably damaging Het
Morn3 T C 5: 123,046,663 Y38C probably damaging Het
Prex2 T A 1: 11,160,156 L802Q probably damaging Het
Psd3 A G 8: 67,882,979 probably null Het
Ralgds T A 2: 28,544,388 probably null Het
Rmdn2 A G 17: 79,650,331 E16G probably damaging Het
Slc17a3 C T 13: 23,855,858 S293F probably damaging Het
Slc4a4 A C 5: 89,156,336 H502P possibly damaging Het
Slco3a1 A T 7: 74,504,326 I166N probably benign Het
Snx5 A T 2: 144,259,192 probably null Het
Srgap1 T C 10: 121,800,827 D741G possibly damaging Het
St8sia2 G T 7: 73,943,290 Y339* probably null Het
Tdo2 T A 3: 81,967,025 N210I probably benign Het
Thada A T 17: 84,455,158 N104K probably damaging Het
Timm8b A T 9: 50,605,030 D61V possibly damaging Het
Trbv12-1 T C 6: 41,113,916 F74S possibly damaging Het
Tshz1 G A 18: 84,014,945 T446I possibly damaging Het
Ubap2l T C 3: 90,038,928 N123S possibly damaging Het
Usp12 A G 5: 146,739,104 V336A possibly damaging Het
Xrn2 T A 2: 147,040,965 probably benign Het
Zfp14 G T 7: 30,038,328 Q411K probably damaging Het
Other mutations in Mmd
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00432:Mmd APN 11 90264534 missense probably damaging 1.00
IGL01300:Mmd APN 11 90249711 start codon destroyed probably null
IGL03412:Mmd APN 11 90257603 critical splice donor site probably null
R0052:Mmd UTSW 11 90259998 splice site probably benign
R1342:Mmd UTSW 11 90276850 missense probably benign 0.03
R3084:Mmd UTSW 11 90266085 missense probably damaging 1.00
R6969:Mmd UTSW 11 90257536 missense probably damaging 1.00
Posted On2012-12-17