Incidental Mutation 'IGL02409:Ms4a7'
ID 292220
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ms4a7
Ensembl Gene ENSMUSG00000024672
Gene Name membrane-spanning 4-domains, subfamily A, member 7
Synonyms 9130422I10Rik, CD20l4, A430103C15Rik, CFFMA
Accession Numbers
Essential gene? Probably non essential (E-score: 0.049) question?
Stock # IGL02409
Quality Score
Status
Chromosome 19
Chromosomal Location 11298403-11313510 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 11301807 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 62 (Y62*)
Ref Sequence ENSEMBL: ENSMUSP00000124911 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025574] [ENSMUST00000056035] [ENSMUST00000067532] [ENSMUST00000159269]
AlphaFold E9Q9V5
Predicted Effect probably null
Transcript: ENSMUST00000025574
AA Change: Y205*
SMART Domains Protein: ENSMUSP00000025574
Gene: ENSMUSG00000024672
AA Change: Y205*

DomainStartEndE-ValueType
Pfam:CD20 80 237 4.6e-36 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000056035
AA Change: Y153*
SMART Domains Protein: ENSMUSP00000054830
Gene: ENSMUSG00000024672
AA Change: Y153*

DomainStartEndE-ValueType
transmembrane domain 53 72 N/A INTRINSIC
Pfam:CD20 92 185 3.2e-14 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000067532
AA Change: Y172*
SMART Domains Protein: ENSMUSP00000064534
Gene: ENSMUSG00000024672
AA Change: Y172*

DomainStartEndE-ValueType
Pfam:CD20 47 204 4.9e-32 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000159269
AA Change: Y62*
SMART Domains Protein: ENSMUSP00000124911
Gene: ENSMUSG00000024672
AA Change: Y62*

DomainStartEndE-ValueType
Pfam:CD20 1 100 1.4e-14 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162785
Coding Region Coverage
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aqp4 T A 18: 15,532,782 (GRCm39) M104L probably benign Het
Cdkn1a T C 17: 29,317,428 (GRCm39) V16A probably benign Het
Celsr2 C A 3: 108,321,271 (GRCm39) V514F probably damaging Het
Cmklr2 T A 1: 63,222,875 (GRCm39) N120I probably damaging Het
Cmya5 T C 13: 93,226,706 (GRCm39) N2794S probably damaging Het
Dnmt1 T C 9: 20,837,793 (GRCm39) T281A probably benign Het
Dock2 A T 11: 34,451,204 (GRCm39) N840K probably benign Het
Dscam T C 16: 96,621,088 (GRCm39) N540S possibly damaging Het
Elavl1 A T 8: 4,339,838 (GRCm39) I248N possibly damaging Het
Fam120a A G 13: 49,120,835 (GRCm39) V157A probably benign Het
Fcrl2 G A 3: 87,160,030 (GRCm39) P408L probably benign Het
Grin2b T A 6: 136,020,906 (GRCm39) M132L possibly damaging Het
Herc2 T A 7: 55,870,217 (GRCm39) probably null Het
Lrp1b T G 2: 41,335,208 (GRCm39) K778T possibly damaging Het
Mapk10 T A 5: 103,076,096 (GRCm39) E389D possibly damaging Het
Muc5b A G 7: 141,415,075 (GRCm39) T2674A possibly damaging Het
Nbeal1 T C 1: 60,368,494 (GRCm39) L2613P probably benign Het
Ncapg2 A T 12: 116,384,337 (GRCm39) Y266F probably damaging Het
Or10a3m A G 7: 108,313,366 (GRCm39) I269V probably benign Het
Or14j6 T C 17: 38,214,679 (GRCm39) Y81H probably damaging Het
Or1j14 T A 2: 36,418,165 (GRCm39) V247E probably damaging Het
Or4c110 C T 2: 88,832,254 (GRCm39) C126Y possibly damaging Het
Pkd1 T A 17: 24,792,597 (GRCm39) I1428N probably benign Het
Ppil4 T C 10: 7,674,328 (GRCm39) probably benign Het
Rev3l T C 10: 39,697,144 (GRCm39) V547A possibly damaging Het
Rgsl1 T C 1: 153,701,989 (GRCm39) K155R possibly damaging Het
Skap2 T C 6: 51,884,938 (GRCm39) D234G possibly damaging Het
Sult2a4 C T 7: 13,718,844 (GRCm39) W133* probably null Het
Tbc1d2b C T 9: 90,104,405 (GRCm39) S579N probably benign Het
Tdrkh T A 3: 94,337,919 (GRCm39) probably benign Het
Thumpd2 A T 17: 81,340,117 (GRCm39) F377L probably damaging Het
Tmem132d T C 5: 127,861,952 (GRCm39) D723G probably damaging Het
Tnfrsf23 A T 7: 143,222,308 (GRCm39) L168Q probably damaging Het
Ttn T C 2: 76,784,974 (GRCm39) T818A unknown Het
Uox A T 3: 146,330,381 (GRCm39) D130V probably benign Het
Vmn2r45 T C 7: 8,488,727 (GRCm39) Y101C probably benign Het
Wdr1 C T 5: 38,688,453 (GRCm39) D161N 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
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
R6990:Ms4a7 UTSW 19 11,310,605 (GRCm39) missense probably damaging 0.99
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
Posted On 2015-04-16