Incidental Mutation 'R0443:Ms4a6b'
ID 39296
Institutional Source Beutler Lab
Gene Symbol Ms4a6b
Ensembl Gene ENSMUSG00000024677
Gene Name membrane-spanning 4-domains, subfamily A, member 6B
Synonyms
MMRRC Submission 038644-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0443 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 11495923-11507767 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 11499044 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 53 (I53V)
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: I53V

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000025580
Gene: ENSMUSG00000024677
AA Change: I53V

DomainStartEndE-ValueType
Pfam:CD20 47 204 2.8e-43 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159587
Predicted Effect possibly damaging
Transcript: ENSMUST00000161157
AA Change: I53V

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000125519
Gene: ENSMUSG00000024677
AA Change: I53V

DomainStartEndE-ValueType
Pfam:CD20 47 117 8e-20 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000161283
AA Change: I4V

PolyPhen 2 Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000124277
Gene: ENSMUSG00000024677
AA Change: I4V

DomainStartEndE-ValueType
Pfam:CD20 1 69 9.2e-20 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000163078
AA Change: I53V

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000124685
Gene: ENSMUSG00000024677
AA Change: I53V

DomainStartEndE-ValueType
Pfam:CD20 47 204 4.2e-41 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189628
Meta Mutation Damage Score 0.0893 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.3%
  • 20x: 95.6%
Validation Efficiency 96% (52/54)
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr3b G T 5: 26,053,409 (GRCm39) R246L probably damaging Het
Adam18 T C 8: 25,119,653 (GRCm39) probably null Het
Ankhd1 A G 18: 36,777,652 (GRCm39) S1612G possibly damaging Het
Caskin1 C T 17: 24,724,374 (GRCm39) A1054V probably damaging Het
Casz1 T C 4: 149,033,368 (GRCm39) V1380A possibly damaging Het
Ccn2 T C 10: 24,471,701 (GRCm39) probably benign Het
Cnot6l T G 5: 96,239,604 (GRCm39) probably benign Het
Crat T C 2: 30,293,640 (GRCm39) probably benign Het
Cux2 C T 5: 122,025,500 (GRCm39) R56H possibly damaging Het
Dst A G 1: 34,333,631 (GRCm39) probably null Het
Dync2h1 G T 9: 7,167,244 (GRCm39) probably null Het
Epg5 T C 18: 77,999,118 (GRCm39) probably benign Het
Ergic3 G A 2: 155,858,707 (GRCm39) V278M probably benign Het
Fam20b A T 1: 156,509,023 (GRCm39) D396E probably benign Het
Gapvd1 A G 2: 34,594,633 (GRCm39) probably benign Het
Golga1 A T 2: 38,908,453 (GRCm39) S749T probably damaging Het
Gsdma2 C T 11: 98,548,514 (GRCm39) T255I probably damaging Het
Itga1 T A 13: 115,128,996 (GRCm39) D554V probably benign Het
Itgam C T 7: 127,680,806 (GRCm39) A245V probably damaging Het
Kcnk15 A G 2: 163,700,243 (GRCm39) T161A probably benign Het
Map3k19 A T 1: 127,750,152 (GRCm39) N1066K probably benign Het
Mtf1 C T 4: 124,718,075 (GRCm39) probably benign Het
Neb T C 2: 52,051,489 (GRCm39) probably null Het
Nop9 A G 14: 55,991,205 (GRCm39) S621G probably benign Het
Or1e19 A G 11: 73,316,581 (GRCm39) V76A probably damaging Het
Or5p60 A G 7: 107,724,023 (GRCm39) V149A probably benign Het
Or9a2 T A 6: 41,748,829 (GRCm39) I135F possibly damaging Het
Pacs1 A T 19: 5,322,611 (GRCm39) Y102* probably null Het
Pcdhb10 A C 18: 37,545,485 (GRCm39) D187A probably damaging Het
Pih1d2 A G 9: 50,532,403 (GRCm39) R170G possibly damaging Het
Pikfyve A G 1: 65,235,865 (GRCm39) H179R probably damaging Het
Pknox1 A G 17: 31,811,193 (GRCm39) S156G probably damaging Het
Prkcz T A 4: 155,353,597 (GRCm39) D250V probably damaging Het
Psg16 T A 7: 16,829,088 (GRCm39) I224N probably benign Het
Ro60 A G 1: 143,641,661 (GRCm39) probably benign Het
Slc25a40 T A 5: 8,497,348 (GRCm39) S229T probably benign Het
Slc43a2 T C 11: 75,435,493 (GRCm39) probably benign Het
Snrnp40 C G 4: 130,271,836 (GRCm39) probably null Het
Tas2r129 G T 6: 132,928,159 (GRCm39) C32F probably benign Het
Tfap2d C T 1: 19,174,591 (GRCm39) R15C possibly damaging Het
Tonsl T C 15: 76,523,884 (GRCm39) S39G probably benign Het
Trpc2 A G 7: 101,742,727 (GRCm39) probably benign Het
Ttc17 A G 2: 94,208,439 (GRCm39) F144S probably benign Het
Twnk G T 19: 44,996,578 (GRCm39) G337V possibly damaging Het
Uvssa A G 5: 33,546,168 (GRCm39) R180G possibly damaging Het
Vmn1r197 T A 13: 22,512,241 (GRCm39) I54K possibly damaging Het
Vmn1r71 G A 7: 10,482,238 (GRCm39) T84I probably benign Het
Zbtb49 T C 5: 38,358,174 (GRCm39) E693G 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
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
Predicted Primers PCR Primer
(F):5'- TGTTACCCATGCACTCACGTTCAG -3'
(R):5'- GCAGCTAGGTGAAAACTCCCTTCTC -3'

Sequencing Primer
(F):5'- TAAAGGTGACCCGAGGCTC -3'
(R):5'- GGTGAAAACTCCCTTCTCTCTCC -3'
Posted On 2013-05-23