Incidental Mutation 'R1084:Ms4a8a'
ID 84979
Institutional Source Beutler Lab
Gene Symbol Ms4a8a
Ensembl Gene ENSMUSG00000024730
Gene Name membrane-spanning 4-domains, subfamily A, member 8A
Synonyms 2010004L09Rik, CD20L5, Ms4a8
MMRRC Submission 039170-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R1084 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 11044835-11058466 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 11053726 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 127 (I127F)
Ref Sequence ENSEMBL: ENSMUSP00000025636 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025636]
AlphaFold Q99N10
Predicted Effect probably damaging
Transcript: ENSMUST00000025636
AA Change: I127F

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000025636
Gene: ENSMUSG00000024730
AA Change: I127F

DomainStartEndE-ValueType
Pfam:CD20 109 247 3.7e-22 PFAM
low complexity region 266 284 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187859
Meta Mutation Damage Score 0.3489 question?
Coding Region Coverage
  • 1x: 99.7%
  • 3x: 99.0%
  • 10x: 97.3%
  • 20x: 93.7%
Validation Efficiency 100% (39/39)
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 this protein family are characterized by common structural features and similar intron/exon splice boundaries and display unique expression patterns among hematopoietic cells and nonlymphoid tissues. The gene encoding this protein is localized to 11q12.3, among a cluster of family members. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1bg T A 15: 60,790,004 (GRCm39) probably benign Het
Abcg4 C T 9: 44,188,766 (GRCm39) V476M probably benign Het
Arhgap9 A G 10: 127,163,797 (GRCm39) S478G probably damaging Het
Blvra A G 2: 126,922,573 (GRCm39) T3A probably benign Het
Crygb C T 1: 65,119,654 (GRCm39) D109N possibly damaging Het
Cyp3a59 A T 5: 146,033,484 (GRCm39) T207S probably benign Het
Cyp4b1 A G 4: 115,497,509 (GRCm39) V163A probably benign Het
Dmxl2 A T 9: 54,323,717 (GRCm39) S1222R probably damaging Het
Dna2 C T 10: 62,784,966 (GRCm39) R28W probably benign Het
Dnah5 G A 15: 28,343,598 (GRCm39) V2333I probably benign Het
Eral1 C T 11: 77,965,324 (GRCm39) V364M probably damaging Het
Fat4 T C 3: 39,033,974 (GRCm39) V2542A possibly damaging Het
Glcci1 C T 6: 8,573,221 (GRCm39) Q50* probably null Het
Heg1 A G 16: 33,527,367 (GRCm39) D109G probably benign Het
Lama1 C A 17: 68,111,464 (GRCm39) S2238R probably benign Het
Ltbp1 G A 17: 75,666,420 (GRCm39) W1053* probably null Het
Ly6f T C 15: 75,140,622 (GRCm39) L15P probably damaging Het
Mapk8 T A 14: 33,110,760 (GRCm39) K290* probably null Het
Mbd1 A G 18: 74,402,603 (GRCm39) Y35C probably damaging Het
Mcf2l T C 8: 13,052,645 (GRCm39) V503A possibly damaging Het
Morc2a A G 11: 3,600,454 (GRCm39) probably benign Het
Myo1d T C 11: 80,575,221 (GRCm39) Y165C probably damaging Het
Ocel1 G T 8: 71,824,632 (GRCm39) probably null Het
Plekhh2 C T 17: 84,878,554 (GRCm39) T603M probably damaging Het
Rab6b C T 9: 103,039,834 (GRCm39) T128M probably damaging Het
Scel G T 14: 103,802,279 (GRCm39) probably null Het
Sec23a A T 12: 59,031,921 (GRCm39) N436K probably damaging Het
Sec24a A G 11: 51,604,408 (GRCm39) L736P probably damaging Het
Sf3b1 C G 1: 55,058,554 (GRCm39) E12Q possibly damaging Het
Sulf1 AAGGGA AAGGGAGGGA 1: 12,906,388 (GRCm39) probably null Het
Tex15 A G 8: 34,067,032 (GRCm39) E2154G probably benign Het
Tnrc18 A G 5: 142,750,522 (GRCm39) probably null Het
Tpr A G 1: 150,317,912 (GRCm39) Q2140R probably benign Het
Zfp142 T C 1: 74,610,985 (GRCm39) R834G probably benign Het
Zfp276 G A 8: 123,981,462 (GRCm39) R3Q probably damaging Het
Zscan4d A T 7: 10,898,932 (GRCm39) L115Q probably damaging Het
Other mutations in Ms4a8a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00949:Ms4a8a APN 19 11,056,808 (GRCm39) missense probably benign 0.34
IGL00975:Ms4a8a APN 19 11,048,151 (GRCm39) missense probably damaging 1.00
H8786:Ms4a8a UTSW 19 11,053,725 (GRCm39) missense possibly damaging 0.61
R1586:Ms4a8a UTSW 19 11,053,696 (GRCm39) missense possibly damaging 0.89
R1699:Ms4a8a UTSW 19 11,053,761 (GRCm39) missense probably damaging 1.00
R5227:Ms4a8a UTSW 19 11,045,780 (GRCm39) missense probably damaging 0.99
R5510:Ms4a8a UTSW 19 11,056,828 (GRCm39) missense probably benign
R6116:Ms4a8a UTSW 19 11,058,436 (GRCm39) missense unknown
R6819:Ms4a8a UTSW 19 11,053,743 (GRCm39) missense probably damaging 1.00
R7470:Ms4a8a UTSW 19 11,053,714 (GRCm39) missense possibly damaging 0.92
R7876:Ms4a8a UTSW 19 11,056,848 (GRCm39) missense probably damaging 1.00
R9633:Ms4a8a UTSW 19 11,056,956 (GRCm39) missense probably benign 0.36
RF022:Ms4a8a UTSW 19 11,053,689 (GRCm39) missense possibly damaging 0.89
Z1176:Ms4a8a UTSW 19 11,048,124 (GRCm39) missense possibly damaging 0.75
Predicted Primers PCR Primer
(F):5'- TTGGGCAAGCACCTCCAGATTC -3'
(R):5'- ACATGCTAAAGTGCAGAGACACCATT -3'

Sequencing Primer
(F):5'- GATTCCCAAACAGCTTGGC -3'
(R):5'- GTGCAGAGACACCATTTCTATG -3'
Posted On 2013-11-18