Incidental Mutation 'IGL03222:Muc13'
ID 413669
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Muc13
Ensembl Gene ENSMUSG00000022824
Gene Name mucin 13, epithelial transmembrane
Synonyms 114/A10, Ly64
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.062) question?
Stock # IGL03222
Quality Score
Status
Chromosome 16
Chromosomal Location 33794037-33819934 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 33798965 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 28 (S28P)
Ref Sequence ENSEMBL: ENSMUSP00000110696 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023520] [ENSMUST00000115044]
AlphaFold P19467
Predicted Effect unknown
Transcript: ENSMUST00000023520
AA Change: S28P
SMART Domains Protein: ENSMUSP00000023520
Gene: ENSMUSG00000022824
AA Change: S28P

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 unknown
Transcript: ENSMUST00000115044
AA Change: S28P
SMART Domains Protein: ENSMUSP00000110696
Gene: ENSMUSG00000022824
AA Change: S28P

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 noncoding transcript
Transcript: ENSMUST00000159501
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162677
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163077
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: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921511C20Rik A G X: 127,395,470 D344G probably benign Het
Aqr A T 2: 114,121,256 L877Q probably damaging Het
Ctr9 T C 7: 111,043,050 Y328H probably benign Het
Ebf2 A G 14: 67,411,992 probably null Het
Ebpl A G 14: 61,342,233 probably benign Het
Efcab5 A T 11: 77,137,367 D515E probably benign Het
Gon4l A G 3: 88,895,643 N1187S possibly damaging Het
Hmces A G 6: 87,925,692 R172G probably damaging Het
Ighv14-2 T C 12: 113,994,494 D109G possibly damaging Het
Kcnn1 C T 8: 70,848,199 R423H probably damaging Het
Olfr495 A T 7: 108,395,186 D22V possibly damaging Het
Olfr862 G T 9: 19,884,199 Y35* probably null Het
Polg T C 7: 79,454,656 T824A probably damaging Het
Rapgef2 A T 3: 79,087,995 V782D probably damaging Het
Rin2 T A 2: 145,860,195 C270* probably null Het
Sdk2 C A 11: 113,838,431 V1107L probably benign Het
Sema5a T A 15: 32,628,158 V539E probably benign Het
Tiam2 T C 17: 3,438,708 S764P probably damaging Het
Tnfrsf11a A G 1: 105,821,490 Y211C probably damaging Het
Ttn T C 2: 76,755,739 T21883A probably damaging Het
Xkr5 T C 8: 18,937,299 T117A probably damaging Het
Xkr9 T A 1: 13,701,281 Y340* probably null 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
IGL02549:Muc13 APN 16 33807969 missense probably damaging 1.00
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
R8087:Muc13 UTSW 16 33799027 missense unknown
R8392:Muc13 UTSW 16 33799419 missense unknown
R8803:Muc13 UTSW 16 33812917 critical splice donor site probably benign
R8851:Muc13 UTSW 16 33810903 missense probably benign 0.25
Z1176:Muc13 UTSW 16 33799087 missense unknown
Z1176:Muc13 UTSW 16 33815850 missense possibly damaging 0.87
Posted On 2016-08-02