Incidental Mutation 'R7397:Ms4a7'
ID 573941
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 045479-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.049) question?
Stock # R7397 (G1)
Quality Score 185.009
Status Validated
Chromosome 19
Chromosomal Location 11298403-11313510 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 11298916 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Asparagine at position 257 (H257N)
Ref Sequence ENSEMBL: ENSMUSP00000025574 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025574] [ENSMUST00000056035] [ENSMUST00000067532] [ENSMUST00000159269]
AlphaFold E9Q9V5
Predicted Effect probably benign
Transcript: ENSMUST00000025574
AA Change: H257N

PolyPhen 2 Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000025574
Gene: ENSMUSG00000024672
AA Change: H257N

DomainStartEndE-ValueType
Pfam:CD20 80 237 4.6e-36 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000056035
AA Change: H205N

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000054830
Gene: ENSMUSG00000024672
AA Change: H205N

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: H224N

PolyPhen 2 Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000064534
Gene: ENSMUSG00000024672
AA Change: H224N

DomainStartEndE-ValueType
Pfam:CD20 47 204 4.9e-32 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000159269
AA Change: H120N

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000124911
Gene: ENSMUSG00000024672
AA Change: H120N

DomainStartEndE-ValueType
Pfam:CD20 1 100 1.4e-14 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (77/77)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6430550D23Rik T C 2: 155,845,848 (GRCm39) H3R unknown Het
Adam18 T A 8: 25,136,321 (GRCm39) E400V possibly damaging Het
Ak5 A T 3: 152,183,989 (GRCm39) F473I probably damaging Het
Arhgef10l G A 4: 140,290,115 (GRCm39) P486S probably damaging Het
Asphd1 T A 7: 126,548,001 (GRCm39) R101W possibly damaging Het
Bhlha15 G A 5: 144,128,223 (GRCm39) E112K probably damaging Het
C4b A T 17: 34,961,364 (GRCm39) D198E possibly damaging Het
Carmil1 G T 13: 24,228,294 (GRCm39) P961T probably damaging Het
Catsperb T C 12: 101,554,282 (GRCm39) S659P possibly damaging Het
Cdh3 C T 8: 107,263,241 (GRCm39) R97* probably null Het
Cep192 T C 18: 67,989,268 (GRCm39) I1805T probably damaging Het
Cep250 T G 2: 155,823,331 (GRCm39) L995R probably damaging Het
Cfap276 T A 3: 108,450,864 (GRCm39) I102N probably benign Het
Cfap53 T C 18: 74,416,294 (GRCm39) V9A possibly damaging Het
Chd5 A G 4: 152,452,469 (GRCm39) K809E possibly damaging Het
Csmd3 T C 15: 47,559,130 (GRCm39) T1467A Het
Ctla2a T A 13: 61,083,463 (GRCm39) R60S probably damaging Het
Cts6 A T 13: 61,350,014 (GRCm39) D22E possibly damaging Het
Ctsll3 T A 13: 60,948,532 (GRCm39) E109V probably benign Het
Dgka G A 10: 128,556,594 (GRCm39) P701S possibly damaging Het
Dnhd1 A T 7: 105,354,504 (GRCm39) I3089F possibly damaging Het
Dock2 T A 11: 34,609,816 (GRCm39) D208V probably benign Het
Fnbp1l G T 3: 122,338,286 (GRCm39) Q520K probably benign Het
Foxc1 A G 13: 31,991,618 (GRCm39) D143G probably damaging Het
Fsip2 G A 2: 82,815,601 (GRCm39) R3778Q possibly damaging Het
Gbp10 G A 5: 105,384,015 (GRCm39) probably benign Het
Gm4871 A T 5: 144,969,508 (GRCm39) C4S probably damaging Het
Gpt C A 15: 76,582,717 (GRCm39) T294K probably benign Het
Hsd17b4 G T 18: 50,279,491 (GRCm39) G157C probably damaging Het
Iars1 G A 13: 49,882,153 (GRCm39) E1066K probably benign Het
Ifih1 G A 2: 62,453,832 (GRCm39) T260I possibly damaging Het
Ighv5-8 TATATATATATATATATATATA TATATATATATATATATATATATA 12: 113,618,565 (GRCm39) probably null Het
Ipcef1 T A 10: 6,922,244 (GRCm39) *338R probably null Het
Kif20a A G 18: 34,760,729 (GRCm39) T166A probably damaging Het
Map3k1 G A 13: 111,891,742 (GRCm39) A1171V probably damaging Het
Map3k21 T C 8: 126,661,855 (GRCm39) F484S probably damaging Het
Mbnl1 A T 3: 60,523,051 (GRCm39) Q180L probably benign Het
Mmp2 T C 8: 93,562,755 (GRCm39) F331L possibly damaging Het
Mtbp T A 15: 55,432,547 (GRCm39) S285T probably benign Het
Mtrex A T 13: 113,058,220 (GRCm39) D70E probably benign Het
Myo1c A G 11: 75,562,068 (GRCm39) N852S probably benign Het
Myom3 T A 4: 135,510,429 (GRCm39) F574Y probably damaging Het
Nbeal2 A G 9: 110,457,100 (GRCm39) I2322T possibly damaging Het
Nlrp10 A G 7: 108,523,899 (GRCm39) L527P probably damaging Het
Nudt16l2 A T 9: 105,021,621 (GRCm39) W142R probably damaging Het
Nxnl1 C T 8: 72,019,105 (GRCm39) G40D probably damaging Het
Or52n1 C T 7: 104,382,815 (GRCm39) C252Y possibly damaging Het
Or5af1 C T 11: 58,722,115 (GRCm39) T45M probably benign Het
Otof A T 5: 30,533,051 (GRCm39) W1564R probably damaging Het
Pcdhga7 A G 18: 37,850,327 (GRCm39) Y778C probably benign Het
Pcnx2 C T 8: 126,617,624 (GRCm39) probably null Het
Pdpr T A 8: 111,839,385 (GRCm39) N169K possibly damaging Het
Pkd1l2 C A 8: 117,762,641 (GRCm39) V1379F possibly damaging Het
Ppp4r1 T G 17: 66,144,786 (GRCm39) I801S probably benign Het
Ppp4r4 A T 12: 103,579,065 (GRCm39) probably null Het
Prl2c5 A G 13: 13,366,327 (GRCm39) D202G probably benign Het
Rap1gap2 T C 11: 74,305,237 (GRCm39) T323A probably benign Het
Rapgef4 T C 2: 72,036,010 (GRCm39) M501T probably benign Het
Rbm6 A G 9: 107,729,718 (GRCm39) M310T probably benign Het
Rdh1 A T 10: 127,596,047 (GRCm39) I81F probably benign Het
Rock1 C T 18: 10,097,599 (GRCm39) A730T possibly damaging Het
Rsl1 C T 13: 67,330,101 (GRCm39) T183I possibly damaging Het
Scyl3 T C 1: 163,778,487 (GRCm39) probably null Het
Snap29 T C 16: 17,237,236 (GRCm39) F116L probably damaging Het
Syt5 A T 7: 4,545,395 (GRCm39) probably null Het
Tat T C 8: 110,724,200 (GRCm39) L363P probably damaging Het
Ttn A G 2: 76,601,316 (GRCm39) V18719A possibly damaging Het
Ube2e2 T A 14: 18,630,339 (GRCm38) D107V probably damaging Het
Vmn1r64 A G 7: 5,887,013 (GRCm39) S177P possibly damaging Het
Vmn1r91 A T 7: 19,835,695 (GRCm39) T205S possibly damaging Het
Vmn2r124 T C 17: 18,282,947 (GRCm39) W214R probably damaging Het
Vmn2r25 A T 6: 123,800,498 (GRCm39) F615I probably damaging Het
Vmn2r91 G T 17: 18,356,060 (GRCm39) V576L probably benign Het
Vsig10l A C 7: 43,117,431 (GRCm39) T573P probably damaging Het
Wdr93 A G 7: 79,416,172 (GRCm39) Q276R probably null Het
Zc3h7b T C 15: 81,653,354 (GRCm39) V86A possibly damaging Het
Zeb1 T A 18: 5,761,394 (GRCm39) Y231N probably damaging Het
Zfp407 T C 18: 84,579,944 (GRCm39) K390E possibly damaging Het
Zfp764l1 C T 7: 126,992,496 (GRCm39) C38Y probably null 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
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
R7678:Ms4a7 UTSW 19 11,301,868 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- TGCTGACTCGGACTTTAGGAAATG -3'
(R):5'- TGCTTGGACATTGTTGCAACC -3'

Sequencing Primer
(F):5'- GACTCGGACTTTAGGAAATGATTTTC -3'
(R):5'- GGACATTGTTGCAACCATATATTATG -3'
Posted On 2019-09-13