Incidental Mutation 'IGL01845:Ms4a7'
ID 178205
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: 0.048) question?
Stock # IGL01845
Quality Score
Status
Chromosome 19
Chromosomal Location 11298403-11313510 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 11299751 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold E9Q9V5
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: 15,164,380 (GRCm39) L169P probably damaging Het
4933405L10Rik C A 8: 106,435,567 (GRCm39) A75E probably benign Het
Abca1 A G 4: 53,090,297 (GRCm39) L384P probably damaging Het
Acox2 C A 14: 8,251,617 (GRCm38) M293I probably damaging Het
Acp6 A G 3: 97,081,123 (GRCm39) S288G probably benign Het
Arhgef12 T A 9: 42,934,137 (GRCm39) H127L possibly damaging Het
Arid2 T G 15: 96,254,678 (GRCm39) F175V probably damaging Het
Ccdc15 G A 9: 37,226,532 (GRCm39) Q468* probably null Het
Ccdc93 T C 1: 121,390,859 (GRCm39) I277T probably damaging Het
Cdh8 T C 8: 99,825,586 (GRCm39) probably benign Het
Cdipt T C 7: 126,578,725 (GRCm39) S145P possibly damaging Het
Cfap206 T C 4: 34,719,610 (GRCm39) N268S possibly damaging Het
Clcn3 A T 8: 61,366,129 (GRCm39) N814K probably benign Het
Col6a3 T C 1: 90,724,293 (GRCm39) D2019G probably damaging Het
Corin C A 5: 72,511,282 (GRCm39) G432C probably damaging Het
Crppa A G 12: 36,597,918 (GRCm39) R350G probably benign Het
Cyld C T 8: 89,432,403 (GRCm39) Q134* probably null Het
Dhh C A 15: 98,795,864 (GRCm39) R97L probably damaging Het
Dnah5 T C 15: 28,449,315 (GRCm39) V4239A probably benign Het
Dock2 T C 11: 34,599,692 (GRCm39) I296V probably benign Het
Gabbr1 T C 17: 37,359,306 (GRCm39) probably benign Het
Gbp10 T C 5: 105,367,815 (GRCm39) probably null Het
Itgam T A 7: 127,711,644 (GRCm39) L753Q probably damaging Het
Kbtbd12 A G 6: 88,590,922 (GRCm39) V430A probably benign Het
Kdm4a A G 4: 118,017,656 (GRCm39) V470A possibly damaging Het
Larp1b A T 3: 40,924,960 (GRCm39) T146S probably benign Het
Lrrfip2 T A 9: 111,028,728 (GRCm39) probably benign Het
Mier2 A T 10: 79,385,418 (GRCm39) C137S possibly damaging Het
Morc3 A G 16: 93,657,455 (GRCm39) Y393C probably damaging Het
Msl1 A G 11: 98,696,191 (GRCm39) probably null Het
Myh2 A G 11: 67,083,860 (GRCm39) E1546G probably benign Het
Nlgn2 A G 11: 69,716,675 (GRCm39) L622P possibly damaging Het
Oga T A 19: 45,756,301 (GRCm39) E447D probably benign Het
Or10q3 A G 19: 11,847,888 (GRCm39) S231P probably benign Het
Or1e33 A G 11: 73,738,298 (GRCm39) Y218H probably damaging Het
Or1j11 A C 2: 36,312,105 (GRCm39) K232Q probably benign Het
Or56b1b T A 7: 108,164,343 (GRCm39) I220L possibly damaging Het
Or5k17 T C 16: 58,746,929 (GRCm39) M2V probably benign Het
Phf20 C A 2: 156,118,577 (GRCm39) S427* probably null Het
Pirt G A 11: 66,816,794 (GRCm39) S35N probably damaging Het
Prss28 C A 17: 25,529,011 (GRCm39) N117K possibly damaging Het
Rbbp8nl A G 2: 179,925,104 (GRCm39) C34R probably damaging Het
Rtn3 A T 19: 7,435,241 (GRCm39) D231E probably damaging Het
Sema5a T C 15: 32,474,514 (GRCm39) probably benign Het
Sh3bp2 T A 5: 34,713,347 (GRCm39) L196Q probably damaging Het
Slc26a9 G T 1: 131,685,256 (GRCm39) D325Y probably damaging Het
Slc4a1 A G 11: 102,244,729 (GRCm39) V622A probably benign Het
Thbd A G 2: 148,249,016 (GRCm39) V284A probably benign Het
Tmc5 T C 7: 118,251,733 (GRCm39) F609L possibly damaging Het
Tnr T C 1: 159,695,576 (GRCm39) probably benign Het
Ttc17 A T 2: 94,163,177 (GRCm39) Y881* probably null Het
Ttc41 A T 10: 86,612,488 (GRCm39) T1254S probably benign Het
Ttn C T 2: 76,640,347 (GRCm39) D13754N probably damaging Het
Vmn2r16 T A 5: 109,511,762 (GRCm39) F656L probably damaging Het
Wdr19 A G 5: 65,382,709 (GRCm39) I478V probably damaging Het
Zan T C 5: 137,379,116 (GRCm39) probably benign Het
Zp2 T A 7: 119,737,414 (GRCm39) D258V probably damaging Het
Other mutations in Ms4a7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00233:Ms4a7 APN 19 11,299,724 (GRCm39) missense probably damaging 0.98
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
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 2014-05-07