Incidental Mutation 'IGL00837:Muc13'
ID12134
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: 0.057) question?
Stock #IGL00837
Quality Score
Status
Chromosome16
Chromosomal Location33794037-33819934 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) A to T at 33807959 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Stop codon at position 360 (K360*)
Ref Sequence ENSEMBL: ENSMUSP00000110696 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023520] [ENSMUST00000115044]
Predicted Effect probably null
Transcript: ENSMUST00000023520
AA Change: K360*
SMART Domains Protein: ENSMUSP00000023520
Gene: ENSMUSG00000022824
AA Change: K360*

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 null
Transcript: ENSMUST00000115044
AA Change: K360*
SMART Domains Protein: ENSMUSP00000110696
Gene: ENSMUSG00000022824
AA Change: K360*

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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcyap1r1 T C 6: 55,461,620 probably benign Het
Adig T A 2: 158,502,789 F16Y possibly damaging Het
Alox12e T C 11: 70,321,054 T210A probably benign Het
Ankfy1 T A 11: 72,755,898 probably benign Het
Aoc1 T A 6: 48,908,664 I701N possibly damaging Het
Armc1 A C 3: 19,144,420 N125K probably benign Het
Bcl2a1c A T 9: 114,330,492 T113S probably benign Het
Cdh10 A T 15: 19,013,404 I697L probably benign Het
Cep350 A T 1: 155,953,391 S256T probably damaging Het
Chd6 T C 2: 161,042,079 N82S probably benign Het
Gart T C 16: 91,638,720 probably benign Het
Gtf3c6 A G 10: 40,254,474 probably benign Het
Igf1r T C 7: 68,201,352 probably benign Het
Mtmr6 T A 14: 60,280,217 Y92* probably null Het
Nfyc A G 4: 120,781,547 probably benign Het
Pole T A 5: 110,302,009 V774E possibly damaging Het
Rnf217 A G 10: 31,503,774 L484P probably damaging Het
Slc18a2 A T 19: 59,284,384 I373F probably benign Het
Slc5a9 A G 4: 111,893,690 probably benign Het
Tbc1d30 T C 10: 121,296,845 I205V probably damaging Het
Tfap2d A T 1: 19,119,206 D270V probably damaging Het
Tmem63c G A 12: 87,077,197 S483N probably benign Het
Tor1aip1 T A 1: 156,006,916 probably benign Het
Tsga10 A C 1: 37,801,911 probably benign Het
Ttc21b A T 2: 66,235,571 probably null Het
Wdr89 A T 12: 75,633,051 L143* probably null Het
Other mutations in Muc13
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL02549:Muc13 APN 16 33807969 missense probably damaging 1.00
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
Posted On2012-12-06