Incidental Mutation 'IGL01373:Ms4a6b'
ID84086
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ms4a6b
Ensembl Gene ENSMUSG00000024677
Gene Namemembrane-spanning 4-domains, subfamily A, member 6B
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01373
Quality Score
Status
Chromosome19
Chromosomal Location11516512-11531256 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 11529507 bp
ZygosityHeterozygous
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]
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: 119,711,419 R510* probably null Het
Adamts12 A T 15: 11,310,730 E1024D probably benign Het
Aff2 T A X: 69,867,729 D1239E possibly damaging Het
Agps T C 2: 75,852,784 V151A probably benign Het
Cables1 A T 18: 11,888,764 R276S probably damaging Het
Cep72 A G 13: 74,059,459 S64P probably damaging Het
Cmah A T 13: 24,430,549 D159V probably damaging Het
Cox6a1 C A 5: 115,345,839 probably benign Het
Cpxm1 T C 2: 130,394,135 E369G probably damaging Het
Dnah6 A G 6: 73,074,748 L3021P probably benign Het
Esyt1 T C 10: 128,518,941 E530G possibly damaging Het
Fancd2 A G 6: 113,553,752 I449V probably benign Het
Fbxw24 C T 9: 109,623,633 G98D probably damaging Het
Folh1 T C 7: 86,746,142 I361V probably benign Het
Gm12666 A G 4: 92,191,625 V42A probably damaging Het
Gpr19 T A 6: 134,870,321 H41L possibly damaging Het
Kcnq4 A G 4: 120,717,032 V143A probably damaging Het
Lmcd1 A G 6: 112,310,625 I91V probably benign Het
Lpin3 G T 2: 160,903,729 D651Y probably damaging Het
Mxd4 G A 5: 34,184,346 probably benign Het
Nxnl2 T C 13: 51,171,452 F44L probably damaging Het
Olfr698 T C 7: 106,752,446 probably benign Het
Olfr744 T A 14: 50,618,612 I130N probably damaging Het
Pcdhb20 A T 18: 37,506,568 R716W probably benign Het
Pcx T A 19: 4,620,235 probably null Het
Plekhf1 T C 7: 38,221,797 T116A probably benign Het
Psmb2 G T 4: 126,687,092 R93L probably damaging Het
Pstpip2 T A 18: 77,835,216 L42* probably null Het
Ptpn22 A T 3: 103,886,204 D557V probably damaging Het
Rbbp5 G A 1: 132,492,601 V191I probably benign Het
Rgs1 T A 1: 144,245,378 D185V probably damaging Het
Selenoh A G 2: 84,670,594 probably benign Het
Slc6a5 C T 7: 49,917,733 P312S probably benign Het
Snapc1 T A 12: 73,964,680 M40K probably benign Het
Sptbn2 T G 19: 4,745,972 Y1726* probably null Het
Syne2 T C 12: 75,987,107 I3710T probably damaging Het
Tdrd9 G A 12: 112,040,434 V911M probably damaging Het
Tex9 A T 9: 72,480,754 D134E possibly damaging Het
Ttc41 G T 10: 86,775,957 C1063F possibly damaging Het
Usp38 C A 8: 80,990,018 A496S possibly damaging Het
Vmn2r13 T A 5: 109,156,702 Y621F probably damaging Het
Vmn2r67 T A 7: 85,136,626 M724L probably benign Het
Other mutations in Ms4a6b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00336:Ms4a6b APN 19 11529490 missense possibly damaging 0.72
IGL03258:Ms4a6b APN 19 11521708 missense probably damaging 1.00
R0443:Ms4a6b UTSW 19 11521680 missense possibly damaging 0.95
R0616:Ms4a6b UTSW 19 11526898 critical splice donor site probably null
R1649:Ms4a6b UTSW 19 11520442 missense possibly damaging 0.94
R1826:Ms4a6b UTSW 19 11523934 missense probably damaging 1.00
R3964:Ms4a6b UTSW 19 11521734 missense probably benign 0.01
R3966:Ms4a6b UTSW 19 11521734 missense probably benign 0.01
R5380:Ms4a6b UTSW 19 11521680 missense probably damaging 1.00
R5862:Ms4a6b UTSW 19 11521803 missense probably benign 0.13
R5922:Ms4a6b UTSW 19 11520379 missense possibly damaging 0.94
R6048:Ms4a6b UTSW 19 11520370 missense possibly damaging 0.62
R6120:Ms4a6b UTSW 19 11521695 missense probably benign 0.24
R6371:Ms4a6b UTSW 19 11520364 missense probably damaging 1.00
R7057:Ms4a6b UTSW 19 11526889 missense possibly damaging 0.79
R7253:Ms4a6b UTSW 19 11520396 missense probably benign 0.26
R7516:Ms4a6b UTSW 19 11529543 missense probably benign
R7543:Ms4a6b UTSW 19 11521791 missense not run
R7645:Ms4a6b UTSW 19 11523940 missense probably damaging 1.00
Z1176:Ms4a6b UTSW 19 11529486 critical splice acceptor site probably null
Z1177:Ms4a6b UTSW 19 11520423 missense probably benign 0.31
Posted On2013-11-11