Incidental Mutation 'R5356:Muc3a'
ID 424097
Institutional Source Beutler Lab
Gene Symbol Muc3a
Ensembl Gene ENSMUSG00000094840
Gene Name mucin 3A, cell surface associated
Synonyms A630081J09Rik
MMRRC Submission 042935-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5356 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 137243270-137246852 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 137245021 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 151 (I151V)
Ref Sequence ENSEMBL: ENSMUSP00000136061 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000179412]
AlphaFold Q3U5A2
Predicted Effect probably benign
Transcript: ENSMUST00000179412
AA Change: I151V

PolyPhen 2 Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000136061
Gene: ENSMUSG00000094840
AA Change: I151V

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: I149V
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.8%
Validation Efficiency
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adad1 C T 3: 37,119,405 (GRCm39) T162I probably damaging Het
Adam22 C A 5: 8,140,182 (GRCm39) G202W probably damaging Het
Amn1 T C 6: 149,068,392 (GRCm39) I205M possibly damaging Het
Ankrd50 A C 3: 38,510,334 (GRCm39) S678A probably damaging Het
Atg13 G A 2: 91,522,811 (GRCm39) R78* probably null Het
Bmper T G 9: 23,285,157 (GRCm39) F235L probably benign Het
Btn2a2 C T 13: 23,667,045 (GRCm39) V187I probably benign Het
Cabs1 G A 5: 88,127,492 (GRCm39) V48I probably benign Het
Cacnb3 A G 15: 98,539,498 (GRCm39) I212V probably damaging Het
Cdc45 C T 16: 18,614,647 (GRCm39) R205H probably damaging Het
Cep162 T C 9: 87,088,948 (GRCm39) E978G probably damaging Het
Cmya5 A T 13: 93,199,993 (GRCm39) L3445Q probably damaging Het
Cntrl T A 2: 35,038,911 (GRCm39) L1067* probably null Het
Cyp20a1 G A 1: 60,418,546 (GRCm39) V329I probably benign Het
Cyp2d11 A T 15: 82,274,712 (GRCm39) N288K probably benign Het
D430041D05Rik T G 2: 104,085,754 (GRCm39) T932P probably damaging Het
Dlk1 T A 12: 109,421,447 (GRCm39) C54S probably damaging Het
Dusp29 G A 14: 21,727,091 (GRCm39) R186W probably benign Het
Entpd6 T A 2: 150,612,303 (GRCm39) F416L probably damaging Het
Evx1 A G 6: 52,293,602 (GRCm39) T257A probably benign Het
Fpr-rs3 A T 17: 20,844,596 (GRCm39) S182T probably damaging Het
Glra3 A T 8: 56,393,936 (GRCm39) I16F probably benign Het
Gm11437 C A 11: 84,043,513 (GRCm39) L259F possibly damaging Het
Gorasp1 A T 9: 119,757,024 (GRCm39) L386Q probably damaging Het
Gpsm1 T C 2: 26,230,574 (GRCm39) V508A possibly damaging Het
Gstm1 T A 3: 107,920,052 (GRCm39) I180F probably benign Het
Hc T C 2: 34,885,007 (GRCm39) D1400G probably benign Het
Lrp2 A G 2: 69,295,052 (GRCm39) V3422A possibly damaging Het
Map3k4 A G 17: 12,466,195 (GRCm39) V1128A possibly damaging Het
Mboat2 G C 12: 25,007,572 (GRCm39) V363L probably benign Het
Mgat3 A G 15: 80,095,811 (GRCm39) I213V possibly damaging Het
Mgat3 A G 15: 80,096,655 (GRCm39) N494S probably damaging Het
Mtf2 A T 5: 108,254,476 (GRCm39) T426S possibly damaging Het
Myh6 T C 14: 55,191,219 (GRCm39) E874G probably damaging Het
Myo15a G A 11: 60,389,192 (GRCm39) G2030R probably damaging Het
Ncdn T C 4: 126,641,021 (GRCm39) Y493C probably damaging Het
Ncoa6 A G 2: 155,263,112 (GRCm39) F441L probably damaging Het
Ndc80 A T 17: 71,828,103 (GRCm39) S75T possibly damaging Het
Nf1 T C 11: 79,364,282 (GRCm39) F1571L possibly damaging Het
Nherf2 A G 17: 24,860,945 (GRCm39) V88A probably damaging Het
Nme8 A G 13: 19,836,469 (GRCm39) F236L probably damaging Het
Nsmce4a C A 7: 130,138,778 (GRCm39) V289L probably damaging Het
Ntrk2 A T 13: 59,208,056 (GRCm39) D634V probably damaging Het
Pcsk6 G C 7: 65,620,340 (GRCm39) E479Q probably damaging Het
Pkd1 A G 17: 24,812,551 (GRCm39) Q3828R probably damaging Het
Ptov1 T A 7: 44,514,089 (GRCm39) T295S probably damaging Het
Ptprf A G 4: 118,083,535 (GRCm39) M824T probably benign Het
Rbm6 T A 9: 107,729,865 (GRCm39) H129L probably damaging Het
Rbm8a2 A G 1: 175,806,255 (GRCm39) I74T possibly damaging Het
Ret A G 6: 118,174,079 (GRCm39) S6P possibly damaging Het
Rspo3 A T 10: 29,376,064 (GRCm39) C70* probably null Het
Sike1 C A 3: 102,909,106 (GRCm39) A202D possibly damaging Het
Slco4c1 G T 1: 96,759,835 (GRCm39) P499H probably damaging Het
Smg1 A G 7: 117,794,356 (GRCm39) probably benign Het
Tmem135 A G 7: 88,954,723 (GRCm39) V98A probably benign Het
Tor4a T A 2: 25,085,918 (GRCm39) probably null Het
Txlna A G 4: 129,524,166 (GRCm39) F397S probably damaging Het
Tyk2 A G 9: 21,027,040 (GRCm39) I581T probably benign Het
Unc13a C T 8: 72,115,158 (GRCm39) D164N probably benign Het
Vwa3b T C 1: 37,153,664 (GRCm39) I502T probably damaging Het
Xrcc6 A G 15: 81,913,419 (GRCm39) T6A probably benign Het
Zfp524 T C 7: 5,021,432 (GRCm39) V320A probably benign Het
Other mutations in Muc3a
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1500:Muc3a UTSW 5 137,244,958 (GRCm39) splice site probably benign
R1536:Muc3a UTSW 5 137,244,538 (GRCm39) missense unknown
R5076:Muc3a UTSW 5 137,244,997 (GRCm39) missense probably damaging 0.99
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'- TGGTCTGGGAATCTCCACTC -3'
(R):5'- TTCCACAGACACGTACTGGG -3'

Sequencing Primer
(F):5'- TCTGGGAATCTCCACTCCTGGG -3'
(R):5'- AGGCCCACGCTGTGAGTTG -3'
Posted On 2016-08-04