Incidental Mutation 'IGL03100:Muc15'
ID418677
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Muc15
Ensembl Gene ENSMUSG00000050808
Gene Namemucin 15
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.054) question?
Stock #IGL03100
Quality Score
Status
Chromosome2
Chromosomal Location110721340-110739527 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 110731594 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 125 (D125G)
Ref Sequence ENSEMBL: ENSMUSP00000106645 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090332] [ENSMUST00000099623] [ENSMUST00000111016] [ENSMUST00000111017] [ENSMUST00000140777]
Predicted Effect probably damaging
Transcript: ENSMUST00000090332
AA Change: D125G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000087805
Gene: ENSMUSG00000050808
AA Change: D125G

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:Mucin15 21 331 2.3e-155 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000099623
SMART Domains Protein: ENSMUSP00000097219
Gene: ENSMUSG00000074968

DomainStartEndE-ValueType
Pfam:Anoct_dimer 156 381 2.9e-70 PFAM
Pfam:Anoctamin 384 950 4.4e-138 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000111016
AA Change: D125G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000106645
Gene: ENSMUSG00000050808
AA Change: D125G

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
low complexity region 74 88 N/A INTRINSIC
low complexity region 93 108 N/A INTRINSIC
low complexity region 163 181 N/A INTRINSIC
transmembrane domain 235 257 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000111017
AA Change: D125G

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000106646
Gene: ENSMUSG00000050808
AA Change: D125G

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
low complexity region 74 88 N/A INTRINSIC
low complexity region 93 108 N/A INTRINSIC
low complexity region 163 181 N/A INTRINSIC
transmembrane domain 235 257 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000111019
SMART Domains Protein: ENSMUSP00000106648
Gene: ENSMUSG00000074968

DomainStartEndE-ValueType
Pfam:Anoctamin 384 627 6.3e-60 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000140777
SMART Domains Protein: ENSMUSP00000122387
Gene: ENSMUSG00000074968

DomainStartEndE-ValueType
Pfam:Anoctamin 40 141 5.7e-24 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,258,527 R233S probably benign Het
Abcc9 A T 6: 142,694,544 W73R probably damaging Het
Ago1 A G 4: 126,443,171 V247A probably benign Het
Anpep T A 7: 79,836,361 T538S probably benign Het
Asb14 A G 14: 26,903,372 K228R probably benign Het
Atp6v0d2 C T 4: 19,910,586 probably null Het
B3gat2 A T 1: 23,763,191 D186V probably damaging Het
Bmpr1a A T 14: 34,441,207 probably benign Het
Carmil3 A G 14: 55,494,718 D224G probably damaging Het
Cd6 T C 19: 10,792,939 M463V probably benign Het
Clasp1 T C 1: 118,467,896 I188T possibly damaging Het
Cldn17 G T 16: 88,506,601 A80E probably damaging Het
Clptm1l A G 13: 73,612,390 probably benign Het
Col6a5 A T 9: 105,937,313 V500E unknown Het
Ctdspl2 C T 2: 121,978,913 T115I probably benign Het
Dbh G T 2: 27,165,522 A3S probably benign Het
Fgd4 A G 16: 16,477,519 probably benign Het
Gm4952 T A 19: 12,624,719 probably null Het
Grik4 A G 9: 42,550,455 M551T probably damaging Het
Hecw2 T C 1: 53,831,656 I1389V probably damaging Het
Hkdc1 T C 10: 62,417,829 T58A probably benign Het
Kcnh2 T C 5: 24,322,684 K890R probably damaging Het
Kif24 T C 4: 41,394,446 H809R possibly damaging Het
Knl1 A G 2: 119,100,770 E1989G probably damaging Het
Ogdhl A T 14: 32,342,072 M632L probably benign Het
Prkdc T C 16: 15,713,635 I1374T probably benign Het
Psmd1 T A 1: 86,118,521 N670K possibly damaging Het
Ryr1 T C 7: 29,104,593 H590R probably damaging Het
Scara3 A C 14: 65,931,273 H298Q probably damaging Het
Sirt3 T C 7: 140,865,117 D256G probably damaging Het
Slc13a2 T C 11: 78,404,473 Q158R probably damaging Het
Slco5a1 T A 1: 12,879,280 T629S possibly damaging Het
Speer4f2 A G 5: 17,376,530 K157E probably damaging Het
Srsf1 T A 11: 88,049,128 D155E probably damaging Het
Tln2 C T 9: 67,295,737 R534H probably damaging Het
Ttn A G 2: 76,761,648 probably benign Het
Ube2m A G 7: 13,037,635 L32P probably benign Het
Wdr24 T A 17: 25,825,707 F179I possibly damaging Het
Zfp961 T C 8: 71,967,910 *69Q probably null Het
Other mutations in Muc15
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01978:Muc15 APN 2 110731596 missense probably benign 0.00
IGL02547:Muc15 APN 2 110731305 missense probably damaging 0.97
IGL02751:Muc15 APN 2 110731773 missense probably benign 0.14
IGL03188:Muc15 APN 2 110731699 missense probably benign 0.14
R0684:Muc15 UTSW 2 110733815 missense possibly damaging 0.95
R1472:Muc15 UTSW 2 110731560 missense probably damaging 1.00
R1582:Muc15 UTSW 2 110737472 missense probably benign 0.16
R1661:Muc15 UTSW 2 110733898 nonsense probably null
R1665:Muc15 UTSW 2 110733898 nonsense probably null
R1725:Muc15 UTSW 2 110731246 missense probably damaging 0.96
R1815:Muc15 UTSW 2 110731258 missense probably damaging 1.00
R1892:Muc15 UTSW 2 110737352 nonsense probably null
R2022:Muc15 UTSW 2 110731476 missense probably benign 0.00
R4546:Muc15 UTSW 2 110737499 missense probably damaging 0.97
R4953:Muc15 UTSW 2 110731272 missense probably damaging 0.99
R4984:Muc15 UTSW 2 110731573 missense probably damaging 1.00
R5858:Muc15 UTSW 2 110731798 missense probably damaging 1.00
R6046:Muc15 UTSW 2 110731441 nonsense probably null
R6695:Muc15 UTSW 2 110731271 missense probably damaging 1.00
R7468:Muc15 UTSW 2 110731517 missense probably benign 0.02
Posted On2016-08-02