Incidental Mutation 'R7645:Ms4a6b'
ID 590510
Institutional Source Beutler Lab
Gene Symbol Ms4a6b
Ensembl Gene ENSMUSG00000024677
Gene Name membrane-spanning 4-domains, subfamily A, member 6B
Synonyms
MMRRC Submission 045701-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7645 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 11495923-11507767 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 11501304 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 105 (T105S)
Ref Sequence ENSEMBL: ENSMUSP00000025580 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025580] [ENSMUST00000161157] [ENSMUST00000161283] [ENSMUST00000163078]
AlphaFold Q99N09
Predicted Effect probably damaging
Transcript: ENSMUST00000025580
AA Change: T105S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000025580
Gene: ENSMUSG00000024677
AA Change: T105S

DomainStartEndE-ValueType
Pfam:CD20 47 204 2.8e-43 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000161157
AA Change: T105S

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000125519
Gene: ENSMUSG00000024677
AA Change: T105S

DomainStartEndE-ValueType
Pfam:CD20 47 117 8e-20 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000161283
AA Change: T56S

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000124277
Gene: ENSMUSG00000024677
AA Change: T56S

DomainStartEndE-ValueType
Pfam:CD20 1 69 9.2e-20 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000163078
AA Change: T105S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000124685
Gene: ENSMUSG00000024677
AA Change: T105S

DomainStartEndE-ValueType
Pfam:CD20 47 204 4.2e-41 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 98% (46/47)
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actbl2 T A 13: 111,392,789 (GRCm39) C375S probably benign Het
Adgrg3 A G 8: 95,761,392 (GRCm39) probably benign Het
Amn1 C T 6: 149,086,529 (GRCm39) M44I probably benign Het
Atg2b T C 12: 105,589,689 (GRCm39) Y1854C probably benign Het
Bcat2 T A 7: 45,237,387 (GRCm39) N290K probably benign Het
Ccdc39 T C 3: 33,879,318 (GRCm39) probably null Het
Cnot10 T C 9: 114,442,705 (GRCm39) S501G probably benign Het
Col6a6 A G 9: 105,644,397 (GRCm39) probably null Het
Coq2 A C 5: 100,808,116 (GRCm39) C228W probably damaging Het
Cpt2 A T 4: 107,764,171 (GRCm39) M531K possibly damaging Het
Dennd1a A G 2: 37,911,375 (GRCm39) L204P probably damaging Het
Dock9 C T 14: 121,835,075 (GRCm39) V1305M probably benign Het
Dusp16 A G 6: 134,702,888 (GRCm39) I201T probably damaging Het
Esco2 T C 14: 66,064,630 (GRCm39) D370G probably benign Het
Fbxl4 T C 4: 22,377,037 (GRCm39) S158P probably damaging Het
Fut10 A G 8: 31,726,232 (GRCm39) H329R possibly damaging Het
Gpr3 A G 4: 132,938,640 (GRCm39) W11R probably damaging Het
H2-M3 T A 17: 37,581,620 (GRCm39) I94N probably damaging Het
Krt7 T C 15: 101,310,524 (GRCm39) I57T probably damaging Het
Ltc4s T C 11: 50,129,373 (GRCm39) probably benign Het
Muc6 T C 7: 141,234,923 (GRCm39) H592R probably benign Het
Ncam1 T C 9: 49,476,303 (GRCm39) E262G probably benign Het
Or4x11 T A 2: 89,868,091 (GRCm39) I276K possibly damaging Het
Or5b108 T C 19: 13,168,937 (GRCm39) V302A probably benign Het
Plxnb1 T A 9: 108,943,480 (GRCm39) S1908T probably damaging Het
Polg2 A T 11: 106,666,419 (GRCm39) M242K probably benign Het
Polr3g T C 13: 81,842,563 (GRCm39) T151A unknown Het
Pramel51 T C 12: 88,143,028 (GRCm39) T392A probably damaging Het
Psmb8 T C 17: 34,419,186 (GRCm39) L160P possibly damaging Het
Rab5b G A 10: 128,517,260 (GRCm39) A176V possibly damaging Het
Rreb1 T C 13: 38,115,010 (GRCm39) C790R probably damaging Het
Rufy3 A G 5: 88,788,476 (GRCm39) T506A probably benign Het
Samd11 T C 4: 156,340,243 (GRCm39) probably benign Het
Slc12a2 T C 18: 58,029,450 (GRCm39) F279L possibly damaging Het
Slc49a4 T A 16: 35,554,438 (GRCm39) probably null Het
Son TCCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCAGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG TCCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG 16: 91,457,183 (GRCm39) probably benign Het
Srgn C T 10: 62,330,757 (GRCm39) W116* probably null Het
Svil A G 18: 5,099,663 (GRCm39) E1733G probably damaging Het
Tbc1d22a C T 15: 86,119,742 (GRCm39) P49S probably benign Het
Tbc1d9 A T 8: 83,969,182 (GRCm39) K490M probably damaging Het
Tcte1 A G 17: 45,845,915 (GRCm39) N173S probably benign Het
Tmco6 C T 18: 36,868,446 (GRCm39) R31W probably damaging Het
Ttn C A 2: 76,730,025 (GRCm39) A5155S unknown Het
Tyro3 T C 2: 119,647,387 (GRCm39) Y839H probably damaging Het
Zc3h12d A G 10: 7,743,340 (GRCm39) D370G probably benign Het
Zc3h7b T C 15: 81,664,803 (GRCm39) L554P probably damaging Het
Zfp352 C T 4: 90,113,014 (GRCm39) P385S probably benign Het
Other mutations in Ms4a6b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00336:Ms4a6b APN 19 11,506,854 (GRCm39) missense possibly damaging 0.72
IGL01373:Ms4a6b APN 19 11,506,871 (GRCm39) missense possibly damaging 0.71
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
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
Predicted Primers PCR Primer
(F):5'- TCTCTCCTTGTAGGTCAAAGC -3'
(R):5'- TGGTCTCAGACATCAGGCAC -3'

Sequencing Primer
(F):5'- CTCCTTGTAGGTCAAAGCATAGACTC -3'
(R):5'- GGTCTCAGACATCAGGCACACTATG -3'
Posted On 2019-10-24