Incidental Mutation 'R7342:Ms4a6d'
ID569969
Institutional Source Beutler Lab
Gene Symbol Ms4a6d
Ensembl Gene ENSMUSG00000024679
Gene Namemembrane-spanning 4-domains, subfamily A, member 6D
SynonymsMs4a11
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.061) question?
Stock #R7342 (G1)
Quality Score225.009
Status Not validated
Chromosome19
Chromosomal Location11586604-11604849 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) G to A at 11590073 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Stop codon at position 155 (Q155*)
Ref Sequence ENSEMBL: ENSMUSP00000025582 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025582] [ENSMUST00000125291]
Predicted Effect probably null
Transcript: ENSMUST00000025582
AA Change: Q155*
SMART Domains Protein: ENSMUSP00000025582
Gene: ENSMUSG00000024679
AA Change: Q155*

DomainStartEndE-ValueType
Pfam:CD20 47 207 2.8e-42 PFAM
low complexity region 222 235 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000125291
AA Change: Q47*
SMART Domains Protein: ENSMUSP00000115142
Gene: ENSMUSG00000024679
AA Change: Q47*

DomainStartEndE-ValueType
Pfam:CD20 1 99 3.7e-15 PFAM
low complexity region 114 127 N/A INTRINSIC
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the membrane-spanning 4A gene family. Members of this nascent protein family are characterized by common structural features and similar intron/exon splice boundaries and display unique expression patterns among hematopoietic cells and nonlymphoid tissues. The gene encoding this protein is localized to 11q12.1, among a cluster of family members. Alternative splicing of this gene results in several transcript variants that encode different protein isoforms. [provided by RefSeq, Oct 2011]
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aarsd1 T G 11: 101,417,192 T28P probably benign Het
Abcc1 C A 16: 14,465,169 R1170S probably damaging Het
Adam8 T C 7: 139,986,391 N568S probably benign Het
Arhgap17 T C 7: 123,327,244 R65G probably damaging Het
Arid4b A C 13: 14,136,219 I136L probably benign Het
Ash1l G T 3: 88,965,997 G29V possibly damaging Het
Atp6v0a2 A G 5: 124,646,736 T320A probably damaging Het
B4gat1 G A 19: 5,039,658 V228M probably benign Het
Calcr T A 6: 3,691,536 H450L probably benign Het
Cand1 A T 10: 119,211,787 N599K possibly damaging Het
Cel A T 2: 28,560,637 Y125* probably null Het
Cfi T A 3: 129,875,132 N602K probably damaging Het
Clstn1 G A 4: 149,629,430 A190T probably damaging Het
Cmklr1 C T 5: 113,614,293 V216M probably benign Het
Cntnap5a A G 1: 116,060,122 T128A probably benign Het
Creld2 A G 15: 88,826,407 T342A probably benign Het
Ctbp2 T C 7: 133,014,312 E298G probably damaging Het
Ctsh A T 9: 90,074,987 E307V probably benign Het
Cxcl10 T A 5: 92,348,170 D36V probably benign Het
Dgkb A G 12: 38,100,433 T73A probably benign Het
Dnah3 T G 7: 120,029,985 E1449A probably damaging Het
Dpp6 T C 5: 27,714,554 M683T probably benign Het
Foxn4 C A 5: 114,258,699 W241L probably damaging Het
Gif A T 19: 11,763,223 H407L probably benign Het
Gosr1 T C 11: 76,730,207 I219V probably benign Het
Gtf2f2 T C 14: 75,906,877 D179G probably damaging Het
Ighg2b A G 12: 113,306,430 Y323H Het
Itpr2 A T 6: 146,327,187 H1303Q probably damaging Het
Kif1b A C 4: 149,214,090 Y1040D possibly damaging Het
Lbr C T 1: 181,825,621 probably null Het
Lrp2 A G 2: 69,479,290 V2755A possibly damaging Het
Lrp6 G T 6: 134,450,818 P1604T probably damaging Het
Lrrcc1 T A 3: 14,554,371 C606S probably benign Het
Macf1 T C 4: 123,382,124 E6217G probably damaging Het
Myo9b T C 8: 71,355,774 V1687A probably damaging Het
Naip2 A T 13: 100,189,356 F15I probably benign Het
Neb A T 2: 52,281,667 S1605T probably damaging Het
Nuak1 T C 10: 84,374,967 E419G probably damaging Het
Olfr307 G A 7: 86,336,087 T103I probably benign Het
Olfr896-ps1 A G 9: 38,292,278 Y111C probably damaging Het
Paip2b T A 6: 83,814,826 S25C probably damaging Het
Pgbd5 G A 8: 124,433,970 R53C probably benign Het
Plin4 T C 17: 56,104,608 T808A probably benign Het
Pramef6 A T 4: 143,896,950 I218K probably benign Het
Prex2 A G 1: 11,162,325 D872G probably benign Het
Ptf1a A G 2: 19,447,166 *325W probably null Het
Ptprg T C 14: 12,237,151 V1390A possibly damaging Het
Rhpn2 A G 7: 35,334,346 T2A probably damaging Het
Rpl18a T C 8: 70,895,398 N214D unknown Het
Scp2 T A 4: 108,091,321 Y197F probably benign Het
Sftpb G A 6: 72,309,875 R254H probably benign Het
Slc17a9 T C 2: 180,736,762 L246P probably damaging Het
Slc38a9 G T 13: 112,669,591 probably benign Het
Slc4a1ap C T 5: 31,536,290 L523F possibly damaging Het
Spats2l C A 1: 57,885,947 T168K possibly damaging Het
Sstr1 A G 12: 58,213,670 S360G possibly damaging Het
Taf1b A T 12: 24,558,344 K581* probably null Het
Tfip11 T A 5: 112,327,972 M1K probably null Het
Tgoln1 G C 6: 72,616,278 T73R probably benign Het
Ttc23l G A 15: 10,551,497 H48Y probably benign Het
Uggt2 T A 14: 118,994,972 H1489L possibly damaging Het
Unc13b T C 4: 43,258,703 L1346P probably damaging Het
Vmac T C 17: 56,715,644 E122G probably benign Het
Vmn2r125 T C 4: 156,350,843 V172A probably damaging Het
Zfp54 A G 17: 21,427,752 probably benign Het
Other mutations in Ms4a6d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00495:Ms4a6d APN 19 11601885 missense probably damaging 0.99
IGL01638:Ms4a6d APN 19 11587168 missense probably damaging 0.99
IGL01799:Ms4a6d APN 19 11590135 missense probably damaging 1.00
IGL02304:Ms4a6d APN 19 11603141 splice site probably benign
R1873:Ms4a6d UTSW 19 11601859 missense probably damaging 1.00
R1993:Ms4a6d UTSW 19 11590159 missense probably damaging 1.00
R2443:Ms4a6d UTSW 19 11590193 missense possibly damaging 0.93
R2900:Ms4a6d UTSW 19 11590144 missense probably damaging 1.00
R5288:Ms4a6d UTSW 19 11587136 missense possibly damaging 0.78
R6251:Ms4a6d UTSW 19 11587140 missense probably damaging 0.99
R7339:Ms4a6d UTSW 19 11590073 nonsense probably null
R7340:Ms4a6d UTSW 19 11590073 nonsense probably null
R7341:Ms4a6d UTSW 19 11590073 nonsense probably null
R7347:Ms4a6d UTSW 19 11590073 nonsense probably null
R7348:Ms4a6d UTSW 19 11590073 nonsense probably null
R7350:Ms4a6d UTSW 19 11590073 nonsense probably null
R7368:Ms4a6d UTSW 19 11590073 nonsense probably null
R7393:Ms4a6d UTSW 19 11590073 nonsense probably null
R7394:Ms4a6d UTSW 19 11590073 nonsense probably null
R8020:Ms4a6d UTSW 19 11590108 missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TGAACAGAGTTTTGAATCAGGGAAC -3'
(R):5'- GCAGACACTAGAGGGCATTG -3'

Sequencing Primer
(F):5'- TCAGGGAACAGAAGAAATATGCTGTC -3'
(R):5'- CAAGCAGCTGGGCCTATTATAGTG -3'
Posted On2019-09-13