Incidental Mutation 'IGL01845:Ms4a7'
ID178205
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ms4a7
Ensembl Gene ENSMUSG00000024672
Gene Namemembrane-spanning 4-domains, subfamily A, member 7
Synonyms9130422I10Rik, CD20l4, CFFMA, A430103C15Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.063) question?
Stock #IGL01845
Quality Score
Status
Chromosome19
Chromosomal Location11321039-11336146 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 11322387 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 217 (M217K)
Ref Sequence ENSEMBL: ENSMUSP00000025574 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025574] [ENSMUST00000056035] [ENSMUST00000067532] [ENSMUST00000159269]
Predicted Effect possibly damaging
Transcript: ENSMUST00000025574
AA Change: M217K

PolyPhen 2 Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000025574
Gene: ENSMUSG00000024672
AA Change: M217K

DomainStartEndE-ValueType
Pfam:CD20 80 237 4.6e-36 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000056035
AA Change: M165K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000054830
Gene: ENSMUSG00000024672
AA Change: M165K

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: M184K

PolyPhen 2 Score 0.409 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000064534
Gene: ENSMUSG00000024672
AA Change: M184K

DomainStartEndE-ValueType
Pfam:CD20 47 204 4.9e-32 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000159269
AA Change: M80K

PolyPhen 2 Score 0.572 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000124911
Gene: ENSMUSG00000024672
AA Change: M80K

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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600012H06Rik T C 17: 14,944,118 L169P probably damaging Het
4933405L10Rik C A 8: 105,708,935 A75E probably benign Het
Abca1 A G 4: 53,090,297 L384P probably damaging Het
Acox2 C A 14: 8,251,617 M293I probably damaging Het
Acp6 A G 3: 97,173,807 S288G probably benign Het
Arhgef12 T A 9: 43,022,841 H127L possibly damaging Het
Arid2 T G 15: 96,356,797 F175V probably damaging Het
Ccdc15 G A 9: 37,315,236 Q468* probably null Het
Ccdc93 T C 1: 121,463,130 I277T probably damaging Het
Cdh8 T C 8: 99,098,954 probably benign Het
Cdipt T C 7: 126,979,553 S145P possibly damaging Het
Cfap206 T C 4: 34,719,610 N268S possibly damaging Het
Clcn3 A T 8: 60,913,095 N814K probably benign Het
Col6a3 T C 1: 90,796,571 D2019G probably damaging Het
Corin C A 5: 72,353,939 G432C probably damaging Het
Cyld C T 8: 88,705,775 Q134* probably null Het
Dhh C A 15: 98,897,983 R97L probably damaging Het
Dnah5 T C 15: 28,449,169 V4239A probably benign Het
Dock2 T C 11: 34,708,865 I296V probably benign Het
Gabbr1 T C 17: 37,048,414 probably benign Het
Gbp10 T C 5: 105,219,949 probably null Het
Ispd A G 12: 36,547,919 R350G probably benign Het
Itgam T A 7: 128,112,472 L753Q probably damaging Het
Kbtbd12 A G 6: 88,613,940 V430A probably benign Het
Kdm4a A G 4: 118,160,459 V470A possibly damaging Het
Larp1b A T 3: 40,970,525 T146S probably benign Het
Lrrfip2 T A 9: 111,199,660 probably benign Het
Mgea5 T A 19: 45,767,862 E447D probably benign Het
Mier2 A T 10: 79,549,584 C137S possibly damaging Het
Morc3 A G 16: 93,860,567 Y393C probably damaging Het
Msl1 A G 11: 98,805,365 probably null Het
Myh2 A G 11: 67,193,034 E1546G probably benign Het
Nlgn2 A G 11: 69,825,849 L622P possibly damaging Het
Olfr1419 A G 19: 11,870,524 S231P probably benign Het
Olfr181 T C 16: 58,926,566 M2V probably benign Het
Olfr339 A C 2: 36,422,093 K232Q probably benign Het
Olfr393 A G 11: 73,847,472 Y218H probably damaging Het
Olfr504 T A 7: 108,565,136 I220L possibly damaging Het
Phf20 C A 2: 156,276,657 S427* probably null Het
Pirt G A 11: 66,925,968 S35N probably damaging Het
Prss28 C A 17: 25,310,037 N117K possibly damaging Het
Rbbp8nl A G 2: 180,283,311 C34R probably damaging Het
Rtn3 A T 19: 7,457,876 D231E probably damaging Het
Sema5a T C 15: 32,474,368 probably benign Het
Sh3bp2 T A 5: 34,556,003 L196Q probably damaging Het
Slc26a9 G T 1: 131,757,518 D325Y probably damaging Het
Slc4a1 A G 11: 102,353,903 V622A probably benign Het
Thbd A G 2: 148,407,096 V284A probably benign Het
Tmc5 T C 7: 118,652,510 F609L possibly damaging Het
Tnr T C 1: 159,868,006 probably benign Het
Ttc17 A T 2: 94,332,832 Y881* probably null Het
Ttc41 A T 10: 86,776,624 T1254S probably benign Het
Ttn C T 2: 76,810,003 D13754N probably damaging Het
Vmn2r16 T A 5: 109,363,896 F656L probably damaging Het
Wdr19 A G 5: 65,225,366 I478V probably damaging Het
Zan T C 5: 137,380,854 probably benign Het
Zp2 T A 7: 120,138,191 D258V probably damaging Het
Other mutations in Ms4a7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00233:Ms4a7 APN 19 11322360 missense probably damaging 0.98
IGL02409:Ms4a7 APN 19 11324443 nonsense probably null
R1851:Ms4a7 UTSW 19 11324424 missense probably benign 0.08
R5426:Ms4a7 UTSW 19 11325802 splice site probably null
R5468:Ms4a7 UTSW 19 11322414 missense probably benign 0.39
R6267:Ms4a7 UTSW 19 11333295 missense possibly damaging 0.88
R6756:Ms4a7 UTSW 19 11324525 missense possibly damaging 0.93
R6990:Ms4a7 UTSW 19 11333241 missense probably damaging 0.99
R7260:Ms4a7 UTSW 19 11322346 missense probably damaging 1.00
R7272:Ms4a7 UTSW 19 11333278 nonsense probably null
R7397:Ms4a7 UTSW 19 11321552 missense probably benign 0.16
R7678:Ms4a7 UTSW 19 11324504 missense probably benign 0.03
Posted On2014-05-07