Incidental Mutation 'R1536:Muc3a'
ID 169523
Institutional Source Beutler Lab
Gene Symbol Muc3a
Ensembl Gene ENSMUSG00000094840
Gene Name mucin 3A, cell surface associated
Synonyms A630081J09Rik
MMRRC Submission 039575-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1536 (G1)
Quality Score 222
Status Validated
Chromosome 5
Chromosomal Location 137243270-137246852 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 137244538 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 205 (S205T)
Ref Sequence ENSEMBL: ENSMUSP00000136061 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000179412]
AlphaFold Q3U5A2
Predicted Effect unknown
Transcript: ENSMUST00000179412
AA Change: S205T
SMART Domains Protein: ENSMUSP00000136061
Gene: ENSMUSG00000094840
AA Change: S205T

DomainStartEndE-ValueType
Blast:EGF_like 54 95 1e-22 BLAST
transmembrane domain 103 125 N/A INTRINSIC
low complexity region 198 218 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000196391
AA Change: S203T
Meta Mutation Damage Score 0.0869 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.3%
  • 20x: 89.5%
Validation Efficiency 98% (59/60)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The mucin genes encode epithelial glycoproteins, some of which are secreted and some membrane bound. Each of the genes contains at least one large domain of tandemly repeated sequence that encodes the peptide sequence rich in serine and/or threonine residues, which carries most of the O-linked glycosylation (Gendler and Spicer, 1995 [PubMed 7778880]).[supplied by OMIM, Aug 2008]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310003L06Rik A T 5: 88,118,524 (GRCm39) I3F probably benign Het
4930590J08Rik A G 6: 91,894,016 (GRCm39) N211S probably benign Het
A2ml1 A T 6: 128,524,196 (GRCm39) Y1145* probably null Het
Abca7 A G 10: 79,850,064 (GRCm39) D1972G probably benign Het
Adamts19 A T 18: 59,185,687 (GRCm39) D1187V probably damaging Het
Adcy6 G C 15: 98,497,888 (GRCm39) I421M probably damaging Het
Afap1 C A 5: 36,131,835 (GRCm39) H387Q probably damaging Het
Atp8b1 C T 18: 64,678,335 (GRCm39) V854M probably damaging Het
Auts2 C T 5: 131,516,302 (GRCm39) probably benign Het
Cbll1 T C 12: 31,537,855 (GRCm39) D300G probably damaging Het
Cd200r4 A T 16: 44,653,412 (GRCm39) T61S possibly damaging Het
Chmp4c G T 3: 10,454,744 (GRCm39) V207L probably benign Het
Cntn5 T C 9: 9,976,321 (GRCm39) T413A possibly damaging Het
Cox7a2 T A 9: 79,665,863 (GRCm39) probably null Het
Cwc27 A G 13: 104,933,814 (GRCm39) L236P probably damaging Het
Diaph1 A G 18: 38,029,146 (GRCm39) probably null Het
Dst T A 1: 34,299,453 (GRCm39) probably benign Het
Ear1 T A 14: 44,056,583 (GRCm39) H95L probably damaging Het
Enpp1 T A 10: 24,517,732 (GRCm39) H898L probably benign Het
Entpd5 G A 12: 84,429,069 (GRCm39) R321* probably null Het
Ercc6l2 C A 13: 63,972,685 (GRCm39) N177K possibly damaging Het
Ergic1 T C 17: 26,860,680 (GRCm39) probably null Het
Erich6 A T 3: 58,534,019 (GRCm39) I336N probably benign Het
Fmnl2 A G 2: 52,995,549 (GRCm39) E424G probably damaging Het
Galnt3 A T 2: 65,914,550 (GRCm39) D622E probably damaging Het
Gjd4 T A 18: 9,280,569 (GRCm39) T170S probably damaging Het
Gm5611 G A 9: 16,941,903 (GRCm39) noncoding transcript Het
Gpc5 T A 14: 115,636,662 (GRCm39) N448K probably benign Het
Klra3 G C 6: 130,310,107 (GRCm39) R138G probably benign Het
Maco1 A G 4: 134,531,818 (GRCm39) V617A probably damaging Het
Man2b2 T C 5: 36,978,271 (GRCm39) T338A probably benign Het
Mbtps1 A T 8: 120,272,864 (GRCm39) S94T probably benign Het
Nav2 C A 7: 49,195,682 (GRCm39) D1019E probably damaging Het
Neurl4 T A 11: 69,794,252 (GRCm39) L236* probably null Het
Or13c25 A G 4: 52,911,260 (GRCm39) V178A probably benign Het
Plcxd3 T C 15: 4,546,093 (GRCm39) probably benign Het
Pprc1 T C 19: 46,059,965 (GRCm39) probably benign Het
Prkaa2 T A 4: 104,932,647 (GRCm39) N67I probably damaging Het
Prom1 T A 5: 44,175,695 (GRCm39) Y508F probably benign Het
Prx A G 7: 27,216,683 (GRCm39) M534V probably damaging Het
Rps6kc1 C T 1: 190,603,965 (GRCm39) R219Q possibly damaging Het
Sbf2 T C 7: 109,977,250 (GRCm39) Y628C probably damaging Het
Slc1a2 A T 2: 102,607,855 (GRCm39) D501V probably benign Het
Spata31 A T 13: 65,069,196 (GRCm39) Q448L probably damaging Het
Stk35 T C 2: 129,653,155 (GRCm39) probably benign Het
Stxbp5 T A 10: 9,713,836 (GRCm39) R234S probably damaging Het
Tifab A G 13: 56,324,101 (GRCm39) V114A probably benign Het
Tiprl A G 1: 165,055,975 (GRCm39) M49T probably benign Het
Tlr12 A G 4: 128,511,545 (GRCm39) L235P possibly damaging Het
Trim43b A T 9: 88,967,411 (GRCm39) C407* probably null Het
Txndc17 C A 11: 72,098,533 (GRCm39) F28L probably damaging Het
Vmn2r27 T C 6: 124,177,649 (GRCm39) R452G probably damaging Het
Vmn2r3 T A 3: 64,182,538 (GRCm39) D387V probably damaging Het
Vps13b T C 15: 35,875,712 (GRCm39) I2699T probably damaging Het
Zfp944 G T 17: 22,558,697 (GRCm39) Y183* probably null Het
Other mutations in Muc3a
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1500:Muc3a UTSW 5 137,244,958 (GRCm39) splice site probably benign
R5076:Muc3a UTSW 5 137,244,997 (GRCm39) missense probably damaging 0.99
R5356:Muc3a UTSW 5 137,245,021 (GRCm39) missense probably benign 0.33
R6134:Muc3a UTSW 5 137,244,579 (GRCm39) missense probably damaging 0.99
R6491:Muc3a UTSW 5 137,246,591 (GRCm39) missense probably benign 0.00
R7524:Muc3a UTSW 5 137,245,020 (GRCm39) missense probably benign 0.08
R8181:Muc3a UTSW 5 137,244,535 (GRCm39) missense unknown
R9125:Muc3a UTSW 5 137,245,210 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGGAGATATAAGCCCTGCTACCCG -3'
(R):5'- GCCTTGGAGAAGGTGGATACCAAC -3'

Sequencing Primer
(F):5'- gcatcacacccatttcacag -3'
(R):5'- TACCAACATGATGGTGAGGTC -3'
Posted On 2014-04-13