Incidental Mutation 'R6990:Ms4a7'
ID 543221
Institutional Source Beutler Lab
Gene Symbol Ms4a7
Ensembl Gene ENSMUSG00000024672
Gene Name membrane-spanning 4-domains, subfamily A, member 7
Synonyms 9130422I10Rik, CD20l4, A430103C15Rik, CFFMA
MMRRC Submission 045096-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.049) question?
Stock # R6990 (G1)
Quality Score 225.009
Status Not validated
Chromosome 19
Chromosomal Location 11298403-11313510 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 11310605 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 38 (L38Q)
Ref Sequence ENSEMBL: ENSMUSP00000054830 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025574] [ENSMUST00000056035] [ENSMUST00000067532]
AlphaFold E9Q9V5
Predicted Effect probably benign
Transcript: ENSMUST00000025574
AA Change: L71Q

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000025574
Gene: ENSMUSG00000024672
AA Change: L71Q

DomainStartEndE-ValueType
Pfam:CD20 80 237 4.6e-36 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000056035
AA Change: L38Q

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000054830
Gene: ENSMUSG00000024672
AA Change: L38Q

DomainStartEndE-ValueType
transmembrane domain 53 72 N/A INTRINSIC
Pfam:CD20 92 185 3.2e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000067532
AA Change: L38Q

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000064534
Gene: ENSMUSG00000024672
AA Change: L38Q

DomainStartEndE-ValueType
Pfam:CD20 47 204 4.9e-32 PFAM
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 the membrane-spanning 4A gene family, members of which are characterized by common structural features and similar intron/exon splice boundaries and display unique expression patterns in hematopoietic cells and nonlymphoid tissues. This family member is associated with mature cellular function in the monocytic lineage, and it may be a component of a receptor complex involved in signal transduction. This gene is localized to 11q12, in a cluster of other family members. At least four alternatively spliced transcript variants encoding two distinct isoforms have been observed. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610008E11Rik T G 10: 78,902,925 (GRCm39) T464P probably damaging Het
Abca16 A G 7: 120,126,950 (GRCm39) I1214V probably benign Het
Arap2 A G 5: 62,833,860 (GRCm39) F869S probably damaging Het
Astn2 G T 4: 65,910,540 (GRCm39) H431N possibly damaging Het
Bap1 A G 14: 30,977,608 (GRCm39) T308A probably benign Het
Bcr G A 10: 74,966,868 (GRCm39) E492K possibly damaging Het
Bltp3b A G 10: 89,641,979 (GRCm39) D1050G probably benign Het
Camta1 A G 4: 151,229,501 (GRCm39) F444L probably damaging Het
Chd7 A T 4: 8,844,525 (GRCm39) T1545S probably benign Het
Dnmt1 A T 9: 20,827,110 (GRCm39) Y877* probably null Het
Fam13b A G 18: 34,630,500 (GRCm39) V86A possibly damaging Het
Gm11562 T A 11: 99,510,817 (GRCm39) R128W unknown Het
Krt86 A G 15: 101,371,714 (GRCm39) I95V probably benign Het
Mroh2b A G 15: 4,942,284 (GRCm39) T349A possibly damaging Het
Myo1h T C 5: 114,468,221 (GRCm39) S339P probably damaging Het
Nf2 T C 11: 4,749,944 (GRCm39) I46V probably benign Het
Nr1h4 T C 10: 89,290,792 (GRCm39) D416G probably benign Het
Oga G A 19: 45,755,915 (GRCm39) A576V probably benign Het
Or11l3 T C 11: 58,516,284 (GRCm39) E196G probably damaging Het
Or4p18 A G 2: 88,232,639 (GRCm39) M213T probably benign Het
Pde1c C G 6: 56,419,020 (GRCm39) E87Q possibly damaging Het
Peg10 T TCCA 6: 4,756,451 (GRCm39) probably benign Het
Pga5 A T 19: 10,646,779 (GRCm39) D317E probably benign Het
Pira2 T A 7: 3,844,067 (GRCm39) K568N probably damaging Het
Ppp2cb A G 8: 34,109,161 (GRCm39) D290G probably benign Het
Sall4 T C 2: 168,596,990 (GRCm39) K617E probably damaging Het
Slc7a14 G A 3: 31,277,728 (GRCm39) P626S possibly damaging Het
Speer4b A T 5: 27,702,076 (GRCm39) L228* probably null Het
Spns2 T C 11: 72,380,447 (GRCm39) T59A probably benign Het
Tbc1d5 A T 17: 51,275,260 (GRCm39) N78K probably benign Het
Tmem63a T C 1: 180,788,686 (GRCm39) V341A probably benign Het
Trpt1 A G 19: 6,975,683 (GRCm39) T146A probably benign Het
Tyrp1 T C 4: 80,753,674 (GRCm39) C122R probably damaging Het
Uchl1 A G 5: 66,839,818 (GRCm39) E120G possibly damaging Het
Ucn3 C T 13: 3,991,295 (GRCm39) R119Q possibly damaging Het
Vmn2r2 T G 3: 64,024,608 (GRCm39) I658L probably benign Het
Vmn2r96 T A 17: 18,804,082 (GRCm39) V444E probably benign Het
Wdr54 A C 6: 83,132,629 (GRCm39) probably null Het
Xcr1 A G 9: 123,685,300 (GRCm39) L154P probably benign Het
Zbtb26 T C 2: 37,326,557 (GRCm39) K160E probably benign Het
Zfp157 T G 5: 138,454,772 (GRCm39) Y323* probably null Het
Zfp850 A T 7: 27,689,801 (GRCm39) F136I probably benign Het
Other mutations in Ms4a7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00233:Ms4a7 APN 19 11,299,724 (GRCm39) missense probably damaging 0.98
IGL01845:Ms4a7 APN 19 11,299,751 (GRCm39) missense possibly damaging 0.86
IGL02409:Ms4a7 APN 19 11,301,807 (GRCm39) nonsense probably null
R1851:Ms4a7 UTSW 19 11,301,788 (GRCm39) missense probably benign 0.08
R5426:Ms4a7 UTSW 19 11,303,166 (GRCm39) splice site probably null
R5468:Ms4a7 UTSW 19 11,299,778 (GRCm39) missense probably benign 0.39
R6267:Ms4a7 UTSW 19 11,310,659 (GRCm39) missense possibly damaging 0.88
R6756:Ms4a7 UTSW 19 11,301,889 (GRCm39) missense possibly damaging 0.93
R7260:Ms4a7 UTSW 19 11,299,710 (GRCm39) missense probably damaging 1.00
R7272:Ms4a7 UTSW 19 11,310,642 (GRCm39) nonsense probably null
R7397:Ms4a7 UTSW 19 11,298,916 (GRCm39) missense probably benign 0.16
R7678:Ms4a7 UTSW 19 11,301,868 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- GTGTTCTGGTGGAAAAGCAC -3'
(R):5'- GTCAAACCCTGGGGACTAAC -3'

Sequencing Primer
(F):5'- TTATTTTAAATGAAGGCCCAAGGAGG -3'
(R):5'- ACTAACTGAGTCCATTGCCTC -3'
Posted On 2018-11-28