Incidental Mutation 'R6214:Ms4a6c'
ID 503637
Institutional Source Beutler Lab
Gene Symbol Ms4a6c
Ensembl Gene ENSMUSG00000079419
Gene Name membrane-spanning 4-domains, subfamily A, member 6C
Synonyms 2200009H22Rik, 2210417N07Rik
MMRRC Submission 044347-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.049) question?
Stock # R6214 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 11446730-11459556 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 11448500 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 11 (I11T)
Ref Sequence ENSEMBL: ENSMUSP00000132425 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000165310]
AlphaFold Q99N08
Predicted Effect possibly damaging
Transcript: ENSMUST00000165310
AA Change: I11T

PolyPhen 2 Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000132425
Gene: ENSMUSG00000079419
AA Change: I11T

DomainStartEndE-ValueType
Pfam:CD20 47 207 3.2e-46 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186054
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187462
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192201
Meta Mutation Damage Score 0.3727 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.8%
Validation Efficiency 97% (37/38)
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Asap3 A C 4: 135,968,736 (GRCm39) D727A possibly damaging Het
Aste1 A G 9: 105,274,056 (GRCm39) K38E probably damaging Het
Atp13a5 T C 16: 29,070,159 (GRCm39) Y909C probably damaging Het
Ccdc13 A G 9: 121,627,975 (GRCm39) probably benign Het
Cd79b C A 11: 106,203,267 (GRCm39) probably null Het
Chia1 T C 3: 106,029,761 (GRCm39) F132L probably damaging Het
Cntrl A G 2: 35,019,646 (GRCm39) E491G probably benign Het
Ctdnep1 T C 11: 69,880,334 (GRCm39) F206L probably damaging Het
Dido1 T C 2: 180,303,945 (GRCm39) K1320E probably damaging Het
Dmbt1 G T 7: 130,668,463 (GRCm39) C573F possibly damaging Het
Dmtn A G 14: 70,850,776 (GRCm39) I205T probably benign Het
Eif4g3 C T 4: 137,785,314 (GRCm39) H137Y probably damaging Het
Flg2 G T 3: 93,109,166 (GRCm39) C398F possibly damaging Het
Gabbr1 A G 17: 37,380,257 (GRCm39) D604G probably damaging Het
Glis2 T A 16: 4,428,197 (GRCm39) L83* probably null Het
Glra3 A G 8: 56,444,291 (GRCm39) probably null Het
Hipk3 T C 2: 104,264,086 (GRCm39) D804G probably damaging Het
Kcnd1 G C X: 7,690,148 (GRCm39) A23P probably damaging Homo
Lrrc9 A T 12: 72,506,627 (GRCm39) E301D probably damaging Het
Myo1d A T 11: 80,670,617 (GRCm39) M1K probably null Het
Nav3 A G 10: 109,688,426 (GRCm39) L617P probably damaging Het
Or8b3b A G 9: 38,584,510 (GRCm39) S90P probably benign Het
Pcsk7 A C 9: 45,821,674 (GRCm39) N156T possibly damaging Het
Pde4d C T 13: 110,085,967 (GRCm39) S515L probably damaging Het
Pira13 A G 7: 3,824,717 (GRCm39) I554T probably damaging Het
Prom2 A G 2: 127,381,695 (GRCm39) probably null Het
Rsf1 G GACGGCGGCA 7: 97,229,116 (GRCm39) probably benign Het
Scn3a T C 2: 65,325,380 (GRCm39) I1046V probably benign Het
Slc13a1 A T 6: 24,090,795 (GRCm39) Y541* probably null Het
Speer1d C T 5: 11,307,197 (GRCm39) T25I probably damaging Het
Spen C T 4: 141,206,423 (GRCm39) E735K unknown Het
Tm6sf2 T C 8: 70,525,724 (GRCm39) V27A possibly damaging Het
Trim21 A G 7: 102,208,646 (GRCm39) S358P probably damaging Het
Ttc21a A G 9: 119,795,838 (GRCm39) Y1224C probably damaging Het
Ttn T A 2: 76,710,552 (GRCm39) probably benign Het
Vmn2r99 A G 17: 19,602,820 (GRCm39) Q525R probably benign Het
Vsig10 G A 5: 117,481,989 (GRCm39) C393Y probably damaging Het
Ywhag A G 5: 135,939,928 (GRCm39) I222T probably damaging Het
Other mutations in Ms4a6c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00330:Ms4a6c APN 19 11,455,676 (GRCm39) missense probably benign 0.08
IGL02053:Ms4a6c APN 19 11,455,586 (GRCm39) missense probably benign 0.31
IGL02651:Ms4a6c APN 19 11,455,669 (GRCm39) missense possibly damaging 0.46
IGL02941:Ms4a6c APN 19 11,448,466 (GRCm39) utr 5 prime probably benign
R0962:Ms4a6c UTSW 19 11,448,506 (GRCm39) missense probably benign 0.01
R5434:Ms4a6c UTSW 19 11,448,588 (GRCm39) missense probably benign 0.01
R5592:Ms4a6c UTSW 19 11,458,496 (GRCm39) intron probably benign
R5592:Ms4a6c UTSW 19 11,457,641 (GRCm39) intron probably benign
R5594:Ms4a6c UTSW 19 11,455,537 (GRCm39) missense probably benign 0.38
R5945:Ms4a6c UTSW 19 11,457,863 (GRCm39) intron probably benign
R7349:Ms4a6c UTSW 19 11,455,555 (GRCm39) missense probably damaging 1.00
R7484:Ms4a6c UTSW 19 11,449,893 (GRCm39) critical splice donor site probably null
R8293:Ms4a6c UTSW 19 11,455,660 (GRCm39) missense probably benign
R9442:Ms4a6c UTSW 19 11,449,851 (GRCm39) missense probably benign 0.31
Predicted Primers PCR Primer
(F):5'- AATGGTGCACAGTCTGGGAG -3'
(R):5'- ACATAGAGCCTCACCCTCTG -3'

Sequencing Primer
(F):5'- TCTCTCTCTCTCAAACAAATAGGC -3'
(R):5'- CACCCTCTGCTCGCCAC -3'
Posted On 2018-02-27