Incidental Mutation 'IGL00336:Ms4a6b'
ID 5683
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
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00336
Quality Score
Status
Chromosome 19
Chromosomal Location 11516512-11531256 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 11529490 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 214 (N214K)
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: N214K

PolyPhen 2 Score 0.724 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000025580
Gene: ENSMUSG00000024677
AA Change: N214K

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: N214K

PolyPhen 2 Score 0.724 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000124685
Gene: ENSMUSG00000024677
AA Change: N214K

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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010111I01Rik A T 13: 63,015,423 D86V possibly damaging Het
A430033K04Rik A G 5: 138,647,104 Y417C probably damaging Het
Adam28 T A 14: 68,622,120 H548L possibly damaging Het
AF529169 T C 9: 89,603,143 D67G probably damaging Het
Agbl3 A T 6: 34,846,836 D812V probably damaging Het
Aox1 T A 1: 58,059,044 L305Q probably damaging Het
Arhgef38 A G 3: 133,132,051 V706A probably benign Het
Arl15 A G 13: 114,154,752 I171V probably benign Het
Cacna1s C A 1: 136,084,273 Y237* probably null Het
Ccnt1 T C 15: 98,565,109 T61A possibly damaging Het
Col25a1 T A 3: 130,181,784 probably benign Het
Col4a1 T A 8: 11,240,077 probably benign Het
Dcun1d1 T C 3: 35,916,306 E130G possibly damaging Het
Dnah7b G A 1: 46,142,149 M1065I probably benign Het
Ephb2 T G 4: 136,657,484 K872T probably damaging Het
Fga G A 3: 83,031,674 G452D probably damaging Het
Flrt1 T A 19: 7,096,912 N90I probably damaging Het
Fut10 T A 8: 31,195,291 probably null Het
Gm4553 T C 7: 142,165,227 S155G unknown Het
Gpr137b T C 13: 13,374,415 probably benign Het
Gprc5d G A 6: 135,116,490 Q140* probably null Het
Ifi27l2b T C 12: 103,451,217 K237R unknown Het
Ipo8 A T 6: 148,782,786 M836K possibly damaging Het
Kcnq4 G A 4: 120,698,016 Q657* probably null Het
Lama1 A T 17: 67,813,948 H2693L probably benign Het
Lrrc23 A G 6: 124,778,926 W40R probably damaging Het
Morn2 C A 17: 80,295,504 probably benign Het
Nags A T 11: 102,149,066 S527C probably damaging Het
Ndst1 C T 18: 60,707,956 G218D probably damaging Het
Olfr1097 C T 2: 86,890,245 C310Y probably benign Het
Olfr1442 T A 19: 12,674,560 Y118* probably null Het
Olfr16 G A 1: 172,957,478 V228M probably benign Het
Oxa1l G T 14: 54,363,345 G92* probably null Het
Parp16 A T 9: 65,229,963 E157V probably damaging Het
Pcdh17 A T 14: 84,447,544 I484F probably damaging Het
Pex16 A G 2: 92,379,235 R263G probably benign Het
Pkd1l3 G A 8: 109,630,237 E765K possibly damaging Het
Plce1 T C 19: 38,651,906 V532A probably damaging Het
Polq A G 16: 37,065,247 probably benign Het
Pramel5 T C 4: 144,271,621 T351A probably damaging Het
Prokr1 A T 6: 87,588,611 I84N probably damaging Het
Prss30 A T 17: 23,973,721 S162T probably benign Het
Ranbp2 A G 10: 58,451,984 K25E probably damaging Het
Rapsn A G 2: 91,035,860 T22A probably damaging Het
Rhoj G T 12: 75,308,906 G9V probably damaging Het
Rnf213 A G 11: 119,449,343 R3467G probably benign Het
Rreb1 C A 13: 37,929,646 S327* probably null Het
Scn5a G A 9: 119,486,224 P1806L probably damaging Het
Sema6a C A 18: 47,289,975 probably null Het
Stag3 G A 5: 138,297,659 E416K probably benign Het
Stpg1 T A 4: 135,529,545 S216T possibly damaging Het
Tfeb C A 17: 47,791,664 N426K probably benign Het
Trp53bp1 G T 2: 121,256,579 Q199K possibly damaging Het
Ubr4 A G 4: 139,428,566 D2234G probably damaging Het
Ush1c T G 7: 46,196,770 Q866P probably benign Het
Vdr T A 15: 97,884,854 D29V probably damaging Het
Vps13c T C 9: 67,945,942 V2439A probably benign Het
Xirp2 T C 2: 67,512,598 S1728P possibly damaging Het
Zfp9 A G 6: 118,464,475 S409P probably damaging Het
Other mutations in Ms4a6b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01373:Ms4a6b APN 19 11529507 missense possibly damaging 0.71
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 On 2012-04-20