Incidental Mutation 'IGL00432:Mmd'
ID 6029
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mmd
Ensembl Gene ENSMUSG00000003948
Gene Name monocyte to macrophage differentiation-associated
Synonyms 1200017E07Rik, Paqr11, 1810073C06Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.089) question?
Stock # IGL00432
Quality Score
Status
Chromosome 11
Chromosomal Location 90140282-90169415 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 90155360 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 101 (R101W)
Ref Sequence ENSEMBL: ENSMUSP00000103519 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004050] [ENSMUST00000107887]
AlphaFold Q9CQY7
Predicted Effect probably damaging
Transcript: ENSMUST00000004050
AA Change: R101W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000004050
Gene: ENSMUSG00000003948
AA Change: R101W

DomainStartEndE-ValueType
low complexity region 1 14 N/A INTRINSIC
Pfam:HlyIII 24 220 9.9e-21 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000107887
AA Change: R101W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103519
Gene: ENSMUSG00000003948
AA Change: R101W

DomainStartEndE-ValueType
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
Coding Region Coverage
Validation Efficiency
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AA986860 A T 1: 130,670,573 (GRCm39) Q265L possibly damaging Het
Akr1c18 T A 13: 4,187,232 (GRCm39) H168L probably damaging Het
Arid3b A G 9: 57,741,207 (GRCm39) S80P possibly damaging Het
Barhl2 C T 5: 106,603,365 (GRCm39) A265T possibly damaging Het
Brd1 A C 15: 88,614,361 (GRCm39) V178G probably benign Het
Brd2 C T 17: 34,333,397 (GRCm39) R26Q probably damaging Het
Ddr2 T C 1: 169,825,527 (GRCm39) M358V probably benign Het
Dnajc14 A G 10: 128,642,201 (GRCm39) D41G probably damaging Het
Erap1 T G 13: 74,821,778 (GRCm39) V711G probably benign Het
Gchfr A G 2: 119,000,229 (GRCm39) R37G probably damaging Het
Gm20518 T A 16: 17,676,362 (GRCm39) N136I probably damaging Het
Grm6 A T 11: 50,754,124 (GRCm39) probably benign Het
Hydin T A 8: 111,327,884 (GRCm39) V4797E probably damaging Het
Iws1 C A 18: 32,217,741 (GRCm39) N448K probably benign Het
Lin7c T C 2: 109,726,798 (GRCm39) probably benign Het
Lrrc40 T A 3: 157,754,087 (GRCm39) L196Q probably damaging Het
Lrrtm2 C T 18: 35,346,321 (GRCm39) G327D probably benign Het
Masp1 C T 16: 23,332,601 (GRCm39) C78Y probably damaging Het
Myo1d A G 11: 80,492,566 (GRCm39) Y730H probably benign Het
Pcdh15 A G 10: 74,126,914 (GRCm39) probably benign Het
Pglyrp4 G A 3: 90,646,335 (GRCm39) V290M probably damaging Het
Plxna2 G A 1: 194,326,404 (GRCm39) V113I probably benign Het
Prkch T A 12: 73,749,363 (GRCm39) probably benign Het
Rabgef1 G T 5: 130,237,565 (GRCm39) E213* probably null Het
Rdh16f2 T A 10: 127,702,533 (GRCm39) C37S probably damaging Het
Reln A G 5: 22,215,125 (GRCm39) Y1109H probably damaging Het
Scn7a A T 2: 66,572,326 (GRCm39) L215* probably null Het
Slc25a33 A T 4: 149,829,376 (GRCm39) L261H probably damaging Het
Slc28a3 A T 13: 58,717,225 (GRCm39) probably null Het
Slc38a6 T C 12: 73,398,577 (GRCm39) I369T probably benign Het
Tgm4 A T 9: 122,891,447 (GRCm39) probably benign Het
Tnr A G 1: 159,688,815 (GRCm39) I426V probably benign Het
Vmn1r216 A G 13: 23,283,574 (GRCm39) I86V probably benign Het
Wwc1 G A 11: 35,735,029 (GRCm39) P949S possibly damaging Het
Zfp326 A T 5: 106,044,399 (GRCm39) I286F probably damaging Het
Other mutations in Mmd
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01300:Mmd APN 11 90,140,537 (GRCm39) start codon destroyed probably null
IGL03412:Mmd APN 11 90,148,429 (GRCm39) critical splice donor site probably null
R0052:Mmd UTSW 11 90,150,824 (GRCm39) splice site probably benign
R0052:Mmd UTSW 11 90,150,824 (GRCm39) splice site probably benign
R1342:Mmd UTSW 11 90,167,676 (GRCm39) missense probably benign 0.03
R3084:Mmd UTSW 11 90,156,911 (GRCm39) missense probably damaging 1.00
R6969:Mmd UTSW 11 90,148,362 (GRCm39) missense probably damaging 1.00
R7079:Mmd UTSW 11 90,158,325 (GRCm39) splice site probably null
R7626:Mmd UTSW 11 90,148,378 (GRCm39) missense probably damaging 0.98
R7638:Mmd UTSW 11 90,167,583 (GRCm39) missense possibly damaging 0.80
R7734:Mmd UTSW 11 90,167,579 (GRCm39) missense probably damaging 1.00
R7838:Mmd UTSW 11 90,158,433 (GRCm39) missense probably benign 0.38
R9697:Mmd UTSW 11 90,167,579 (GRCm39) missense probably damaging 1.00
Z1177:Mmd UTSW 11 90,150,714 (GRCm39) missense probably damaging 0.98
Posted On 2012-04-20