Incidental Mutation 'IGL02549:Muc13'
ID297994
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Muc13
Ensembl Gene ENSMUSG00000022824
Gene Namemucin 13, epithelial transmembrane
Synonyms114/A10, Ly64
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.074) question?
Stock #IGL02549
Quality Score
Status
Chromosome16
Chromosomal Location33794037-33819934 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 33807969 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Alanine at position 363 (E363A)
Ref Sequence ENSEMBL: ENSMUSP00000110696 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023520] [ENSMUST00000115044]
Predicted Effect probably damaging
Transcript: ENSMUST00000023520
AA Change: E363A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000023520
Gene: ENSMUSG00000022824
AA Change: E363A

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
EGF 236 273 4.63e-1 SMART
SEA 274 391 7.7e-29 SMART
internal_repeat_1 394 418 9.92e-6 PROSPERO
EGF_like 428 467 3.79e1 SMART
transmembrane domain 484 506 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000115044
AA Change: E363A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000110696
Gene: ENSMUSG00000022824
AA Change: E363A

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
EGF 236 273 4.63e-1 SMART
SEA 274 391 7.7e-29 SMART
internal_repeat_1 394 418 9.92e-6 PROSPERO
EGF_like 428 467 3.79e1 SMART
transmembrane domain 484 506 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Epithelial mucins, such as MUC13, are a family of secreted and cell surface glycoproteins expressed by ductal and glandular epithelial tissues (Williams et al., 2001 [PubMed 11278439]).[supplied by OMIM, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 T C 11: 110,102,053 E1595G probably damaging Het
Adnp2 G A 18: 80,129,118 A692V probably damaging Het
Als2cr12 T C 1: 58,659,282 T326A probably benign Het
Ankk1 A G 9: 49,418,693 S321P probably damaging Het
Ankrd11 T C 8: 122,891,293 Y1919C probably damaging Het
Atp10a A G 7: 58,819,733 T1111A probably benign Het
Avpr1a A T 10: 122,452,164 H359L possibly damaging Het
C1rl A T 6: 124,493,837 I35F possibly damaging Het
Casp8 G A 1: 58,833,766 C287Y probably benign Het
Ccdc88c A T 12: 100,928,932 S1437T probably benign Het
Cd200r1 C T 16: 44,789,978 P150S probably damaging Het
Col2a1 G A 15: 97,977,799 R1202C unknown Het
Copb1 A T 7: 114,246,797 D179E probably benign Het
Cyp2c29 C T 19: 39,309,785 T258I possibly damaging Het
Gemin5 T C 11: 58,134,803 Y991C probably damaging Het
Gm4978 T C 9: 69,450,359 probably benign Het
Gm7732 A T 17: 21,129,387 noncoding transcript Het
Gucy2f T C X: 142,160,204 I478V probably benign Het
Herc1 A G 9: 66,399,901 H1001R probably damaging Het
Igsf10 A G 3: 59,329,241 V1173A probably benign Het
Kansl1l T C 1: 66,801,968 T58A probably benign Het
Kcnk13 A T 12: 100,061,751 K362* probably null Het
Lama1 T G 17: 67,790,835 L1737V possibly damaging Het
Lama4 A G 10: 39,060,204 N625S probably benign Het
Loxl1 A T 9: 58,293,638 C514S probably damaging Het
Noxo1 G T 17: 24,700,171 G289V probably damaging Het
Nudt7 G T 8: 114,151,948 D239Y probably damaging Het
Polr3e G T 7: 120,939,759 V407F probably damaging Het
Pou5f2 T A 13: 78,025,590 L217Q probably damaging Het
R3hdm2 A G 10: 127,484,225 probably benign Het
Rab11fip3 A C 17: 25,994,320 N793K probably damaging Het
Ranbp3l A G 15: 8,968,441 R6G possibly damaging Het
Slco1a6 T A 6: 142,096,415 probably benign Het
Sspo A G 6: 48,451,773 E374G possibly damaging Het
Tg T C 15: 66,839,361 Y991H probably damaging Het
Tnc A G 4: 64,015,072 Y652H probably damaging Het
Trpc4 G A 3: 54,222,349 V179I possibly damaging Het
Xirp2 A G 2: 67,513,102 T1896A probably benign Het
Zfhx3 T C 8: 108,800,509 Y1013H probably damaging Het
Other mutations in Muc13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00837:Muc13 APN 16 33807959 nonsense probably null
IGL01561:Muc13 APN 16 33806041 missense possibly damaging 0.90
IGL02159:Muc13 APN 16 33799479 missense unknown
IGL02438:Muc13 APN 16 33807980 missense possibly damaging 0.77
IGL03222:Muc13 APN 16 33798965 missense unknown
R0006:Muc13 UTSW 16 33803148 missense probably damaging 0.99
R0734:Muc13 UTSW 16 33803082 missense probably damaging 0.99
R1869:Muc13 UTSW 16 33804600 missense probably damaging 1.00
R1940:Muc13 UTSW 16 33807911 missense probably benign 0.03
R1966:Muc13 UTSW 16 33814539 missense probably damaging 1.00
R2264:Muc13 UTSW 16 33808039 splice site probably null
R4254:Muc13 UTSW 16 33815851 missense probably benign 0.12
R5843:Muc13 UTSW 16 33806051 missense probably damaging 1.00
R6127:Muc13 UTSW 16 33798947 missense unknown
R7448:Muc13 UTSW 16 33814581 missense probably damaging 1.00
R7549:Muc13 UTSW 16 33799436 missense unknown
R7816:Muc13 UTSW 16 33799016 missense unknown
R7901:Muc13 UTSW 16 33815841 missense probably damaging 1.00
R7984:Muc13 UTSW 16 33815841 missense probably damaging 1.00
Z1176:Muc13 UTSW 16 33799087 missense unknown
Z1176:Muc13 UTSW 16 33815850 missense possibly damaging 0.87
Posted On2015-04-16