Incidental Mutation 'IGL01373:Ms4a6b'
ID 84086
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ms4a6b
Ensembl Gene ENSMUSG00000024677
Gene Name membrane-spanning 4-domains, subfamily A, member 6B
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01373
Quality Score
Status
Chromosome 19
Chromosomal Location 11495923-11507767 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 11506871 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 220 (H220L)
Ref Sequence ENSEMBL: ENSMUSP00000124685 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025580] [ENSMUST00000161157] [ENSMUST00000161283] [ENSMUST00000163078]
AlphaFold Q99N09
Predicted Effect possibly damaging
Transcript: ENSMUST00000025580
AA Change: H220L

PolyPhen 2 Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000025580
Gene: ENSMUSG00000024677
AA Change: H220L

DomainStartEndE-ValueType
Pfam:CD20 47 204 2.8e-43 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000161157
SMART Domains Protein: ENSMUSP00000125519
Gene: ENSMUSG00000024677

DomainStartEndE-ValueType
Pfam:CD20 47 117 8e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000161283
SMART Domains Protein: ENSMUSP00000124277
Gene: ENSMUSG00000024677

DomainStartEndE-ValueType
Pfam:CD20 1 69 9.2e-20 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000163078
AA Change: H220L

PolyPhen 2 Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000124685
Gene: ENSMUSG00000024677
AA Change: H220L

DomainStartEndE-ValueType
Pfam:CD20 47 204 4.2e-41 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm4 C T 7: 119,310,642 (GRCm39) R510* probably null Het
Adamts12 A T 15: 11,310,816 (GRCm39) E1024D probably benign Het
Aff2 T A X: 68,911,335 (GRCm39) D1239E possibly damaging Het
Agps T C 2: 75,683,128 (GRCm39) V151A probably benign Het
Cables1 A T 18: 12,021,821 (GRCm39) R276S probably damaging Het
Cep72 A G 13: 74,207,578 (GRCm39) S64P probably damaging Het
Cmah A T 13: 24,614,532 (GRCm39) D159V probably damaging Het
Cox6a1 C A 5: 115,483,898 (GRCm39) probably benign Het
Cpxm1 T C 2: 130,236,055 (GRCm39) E369G probably damaging Het
Dnah6 A G 6: 73,051,731 (GRCm39) L3021P probably benign Het
Esyt1 T C 10: 128,354,810 (GRCm39) E530G possibly damaging Het
Fancd2 A G 6: 113,530,713 (GRCm39) I449V probably benign Het
Fbxw24 C T 9: 109,452,701 (GRCm39) G98D probably damaging Het
Folh1 T C 7: 86,395,350 (GRCm39) I361V probably benign Het
Gpr19 T A 6: 134,847,284 (GRCm39) H41L possibly damaging Het
Kcnq4 A G 4: 120,574,229 (GRCm39) V143A probably damaging Het
Larp7-ps A G 4: 92,079,862 (GRCm39) V42A probably damaging Het
Lmcd1 A G 6: 112,287,586 (GRCm39) I91V probably benign Het
Lpin3 G T 2: 160,745,649 (GRCm39) D651Y probably damaging Het
Mxd4 G A 5: 34,341,690 (GRCm39) probably benign Het
Nxnl2 T C 13: 51,325,488 (GRCm39) F44L probably damaging Het
Or11g2 T A 14: 50,856,069 (GRCm39) I130N probably damaging Het
Or2ag16 T C 7: 106,351,653 (GRCm39) probably benign Het
Pcdhb20 A T 18: 37,639,621 (GRCm39) R716W probably benign Het
Pcx T A 19: 4,670,263 (GRCm39) probably null Het
Plekhf1 T C 7: 37,921,221 (GRCm39) T116A probably benign Het
Psmb2 G T 4: 126,580,885 (GRCm39) R93L probably damaging Het
Pstpip2 T A 18: 77,922,916 (GRCm39) L42* probably null Het
Ptpn22 A T 3: 103,793,520 (GRCm39) D557V probably damaging Het
Rbbp5 G A 1: 132,420,339 (GRCm39) V191I probably benign Het
Rgs1 T A 1: 144,121,116 (GRCm39) D185V probably damaging Het
Selenoh A G 2: 84,500,938 (GRCm39) probably benign Het
Slc6a5 C T 7: 49,567,481 (GRCm39) P312S probably benign Het
Snapc1 T A 12: 74,011,454 (GRCm39) M40K probably benign Het
Sptbn2 T G 19: 4,796,000 (GRCm39) Y1726* probably null Het
Syne2 T C 12: 76,033,881 (GRCm39) I3710T probably damaging Het
Tdrd9 G A 12: 112,006,868 (GRCm39) V911M probably damaging Het
Tex9 A T 9: 72,388,036 (GRCm39) D134E possibly damaging Het
Ttc41 G T 10: 86,611,821 (GRCm39) C1063F possibly damaging Het
Usp38 C A 8: 81,716,647 (GRCm39) A496S possibly damaging Het
Vmn2r13 T A 5: 109,304,568 (GRCm39) Y621F probably damaging Het
Vmn2r67 T A 7: 84,785,834 (GRCm39) M724L probably benign Het
Other mutations in Ms4a6b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00336:Ms4a6b APN 19 11,506,854 (GRCm39) missense possibly damaging 0.72
IGL03258:Ms4a6b APN 19 11,499,072 (GRCm39) missense probably damaging 1.00
R0443:Ms4a6b UTSW 19 11,499,044 (GRCm39) missense possibly damaging 0.95
R0616:Ms4a6b UTSW 19 11,504,262 (GRCm39) critical splice donor site probably null
R1649:Ms4a6b UTSW 19 11,497,806 (GRCm39) missense possibly damaging 0.94
R1826:Ms4a6b UTSW 19 11,501,298 (GRCm39) missense probably damaging 1.00
R3964:Ms4a6b UTSW 19 11,499,098 (GRCm39) missense probably benign 0.01
R3966:Ms4a6b UTSW 19 11,499,098 (GRCm39) missense probably benign 0.01
R5380:Ms4a6b UTSW 19 11,499,044 (GRCm39) missense probably damaging 1.00
R5862:Ms4a6b UTSW 19 11,499,167 (GRCm39) missense probably benign 0.13
R5922:Ms4a6b UTSW 19 11,497,743 (GRCm39) missense possibly damaging 0.94
R6048:Ms4a6b UTSW 19 11,497,734 (GRCm39) missense possibly damaging 0.62
R6120:Ms4a6b UTSW 19 11,499,059 (GRCm39) missense probably benign 0.24
R6371:Ms4a6b UTSW 19 11,497,728 (GRCm39) missense probably damaging 1.00
R7057:Ms4a6b UTSW 19 11,504,253 (GRCm39) missense possibly damaging 0.79
R7253:Ms4a6b UTSW 19 11,497,760 (GRCm39) missense probably benign 0.26
R7516:Ms4a6b UTSW 19 11,506,907 (GRCm39) missense probably benign
R7543:Ms4a6b UTSW 19 11,499,155 (GRCm39) missense not run
R7645:Ms4a6b UTSW 19 11,501,304 (GRCm39) missense probably damaging 1.00
R9687:Ms4a6b UTSW 19 11,497,806 (GRCm39) missense possibly damaging 0.94
Z1176:Ms4a6b UTSW 19 11,506,850 (GRCm39) critical splice acceptor site probably null
Z1177:Ms4a6b UTSW 19 11,497,787 (GRCm39) missense probably benign 0.31
Posted On 2013-11-11