Incidental Mutation 'R6669:Muc20'
ID 528072
Institutional Source Beutler Lab
Gene Symbol Muc20
Ensembl Gene ENSMUSG00000035638
Gene Name mucin 20
Synonyms
MMRRC Submission 044789-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.073) question?
Stock # R6669 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 32597793-32617805 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 32614307 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 357 (T357A)
Ref Sequence ENSEMBL: ENSMUSP00000041221 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041123] [ENSMUST00000115116]
AlphaFold Q8BUE7
Predicted Effect possibly damaging
Transcript: ENSMUST00000041123
AA Change: T357A

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000041221
Gene: ENSMUSG00000035638
AA Change: T357A

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
low complexity region 97 113 N/A INTRINSIC
internal_repeat_1 114 146 3.3e-8 PROSPERO
internal_repeat_1 138 170 3.3e-8 PROSPERO
internal_repeat_2 144 161 5.26e-5 PROSPERO
low complexity region 171 204 N/A INTRINSIC
low complexity region 210 227 N/A INTRINSIC
internal_repeat_2 228 245 5.26e-5 PROSPERO
low complexity region 324 351 N/A INTRINSIC
low complexity region 376 385 N/A INTRINSIC
low complexity region 516 550 N/A INTRINSIC
low complexity region 574 593 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000115116
AA Change: T357A

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000110769
Gene: ENSMUSG00000035638
AA Change: T357A

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
low complexity region 97 113 N/A INTRINSIC
internal_repeat_1 114 146 2.16e-8 PROSPERO
internal_repeat_1 138 170 2.16e-8 PROSPERO
internal_repeat_2 144 161 4e-5 PROSPERO
low complexity region 171 204 N/A INTRINSIC
low complexity region 210 227 N/A INTRINSIC
internal_repeat_2 228 245 4e-5 PROSPERO
low complexity region 324 351 N/A INTRINSIC
low complexity region 376 385 N/A INTRINSIC
low complexity region 516 550 N/A INTRINSIC
low complexity region 574 593 N/A INTRINSIC
low complexity region 662 679 N/A INTRINSIC
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.8%
  • 20x: 93.5%
Validation Efficiency 97% (33/34)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the mucin protein family. Mucins are high molecular weight glycoproteins secreted by many epithelial tissues to form an insoluble mucous barrier. The C-terminus of this family member associates with the multifunctional docking site of the MET proto-oncogene and suppresses activation of some downstream MET signaling cascades. The protein features a mucin tandem repeat domain that varies between two and six copies in most individuals. Multiple variants encoding different isoforms have been found for this gene. A related pseudogene, which is also located on chromosome 3, has been identified. [provided by RefSeq, Apr 2014]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ascc3 A G 10: 50,716,469 (GRCm39) I1952V probably benign Het
Atg2b T C 12: 105,637,788 (GRCm39) E142G possibly damaging Het
Bbc3 G T 7: 16,047,641 (GRCm39) A122S possibly damaging Het
Cenpu T C 8: 47,029,319 (GRCm39) S191P probably damaging Het
Clic3 G T 2: 25,347,779 (GRCm39) R48L possibly damaging Het
Cmya5 T C 13: 93,229,767 (GRCm39) K1774E probably benign Het
Cnst T A 1: 179,432,638 (GRCm39) probably null Het
Cyfip1 T A 7: 55,549,809 (GRCm39) S657T probably damaging Het
Dock10 T C 1: 80,570,572 (GRCm39) Y322C probably damaging Het
Epn2 C T 11: 61,410,384 (GRCm39) V550I probably benign Het
Evc2 C T 5: 37,535,722 (GRCm39) P466S possibly damaging Het
Fancd2 C T 6: 113,570,288 (GRCm39) T1413I probably benign Het
Gpat2 G C 2: 127,273,838 (GRCm39) G294R possibly damaging Het
Herc4 T A 10: 63,121,847 (GRCm39) W400R probably benign Het
Kcna7 T C 7: 45,058,988 (GRCm39) V425A probably damaging Het
Klhl3 A T 13: 58,158,966 (GRCm39) D564E probably benign Het
Man2b2 T C 5: 36,967,702 (GRCm39) I889V probably benign Het
Mcm3ap A G 10: 76,343,171 (GRCm39) I1688V probably damaging Het
Mocos T A 18: 24,799,467 (GRCm39) F234I probably damaging Het
Ncoa6 T G 2: 155,241,613 (GRCm39) probably null Het
Nlk C A 11: 78,477,892 (GRCm39) G284* probably null Het
Nrxn1 T A 17: 90,366,991 (GRCm39) T12S probably damaging Het
Nrxn2 A G 19: 6,531,221 (GRCm39) Y627C probably damaging Het
Ntn1 T C 11: 68,276,576 (GRCm39) N124S probably benign Het
Pdzd7 T A 19: 45,025,190 (GRCm39) Q435L possibly damaging Het
Rsf1 GCGGCGGCG GCGGCGGCGTCGGCGGCG 7: 97,229,132 (GRCm39) probably benign Het
Slc30a10 G A 1: 185,196,625 (GRCm39) R429Q probably benign Het
Tox4 T C 14: 52,524,213 (GRCm39) Y116H probably damaging Het
Trpv5 G A 6: 41,634,976 (GRCm39) A451V probably damaging Het
Ube3a T C 7: 58,926,605 (GRCm39) V482A probably benign Het
Vcan A T 13: 89,852,850 (GRCm39) D703E probably benign Het
Xirp2 C A 2: 67,343,699 (GRCm39) A1980E possibly damaging Het
Xrcc1 T C 7: 24,246,762 (GRCm39) V10A probably damaging Het
Other mutations in Muc20
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01953:Muc20 APN 16 32,614,073 (GRCm39) missense probably benign 0.10
IGL02016:Muc20 APN 16 32,617,722 (GRCm39) missense possibly damaging 0.46
IGL02092:Muc20 APN 16 32,614,642 (GRCm39) missense probably damaging 0.99
IGL02415:Muc20 APN 16 32,615,051 (GRCm39) missense unknown
R6669_muc20_072 UTSW 16 32,614,307 (GRCm39) missense possibly damaging 0.94
R0552:Muc20 UTSW 16 32,614,300 (GRCm39) missense probably damaging 0.98
R0629:Muc20 UTSW 16 32,613,791 (GRCm39) missense possibly damaging 0.66
R0669:Muc20 UTSW 16 32,614,850 (GRCm39) missense unknown
R0725:Muc20 UTSW 16 32,613,858 (GRCm39) missense probably benign 0.05
R1676:Muc20 UTSW 16 32,614,649 (GRCm39) missense probably damaging 1.00
R1771:Muc20 UTSW 16 32,614,222 (GRCm39) missense probably damaging 0.97
R1778:Muc20 UTSW 16 32,614,511 (GRCm39) missense possibly damaging 0.49
R1967:Muc20 UTSW 16 32,614,612 (GRCm39) missense probably benign 0.03
R2104:Muc20 UTSW 16 32,614,547 (GRCm39) missense probably damaging 0.99
R3054:Muc20 UTSW 16 32,599,403 (GRCm39) missense probably benign 0.18
R4704:Muc20 UTSW 16 32,599,448 (GRCm39) missense possibly damaging 0.70
R4893:Muc20 UTSW 16 32,615,042 (GRCm39) missense possibly damaging 0.66
R4986:Muc20 UTSW 16 32,598,009 (GRCm39) intron probably benign
R5191:Muc20 UTSW 16 32,614,846 (GRCm39) missense unknown
R5195:Muc20 UTSW 16 32,614,846 (GRCm39) missense unknown
R5875:Muc20 UTSW 16 32,614,189 (GRCm39) missense possibly damaging 0.93
R5931:Muc20 UTSW 16 32,614,944 (GRCm39) missense possibly damaging 0.81
R6434:Muc20 UTSW 16 32,615,176 (GRCm39) missense probably benign 0.01
R6523:Muc20 UTSW 16 32,613,820 (GRCm39) missense possibly damaging 0.90
R6580:Muc20 UTSW 16 32,613,859 (GRCm39) missense possibly damaging 0.77
R7028:Muc20 UTSW 16 32,614,616 (GRCm39) missense probably benign 0.03
R7681:Muc20 UTSW 16 32,613,989 (GRCm39) missense probably benign 0.34
R7722:Muc20 UTSW 16 32,617,756 (GRCm39) missense probably benign 0.00
R8678:Muc20 UTSW 16 32,617,789 (GRCm39) start gained probably benign
R8730:Muc20 UTSW 16 32,599,490 (GRCm39) missense probably benign 0.03
R8838:Muc20 UTSW 16 32,613,829 (GRCm39) missense possibly damaging 0.64
R9017:Muc20 UTSW 16 32,614,840 (GRCm39) missense unknown
R9230:Muc20 UTSW 16 32,613,584 (GRCm39) missense probably damaging 1.00
R9368:Muc20 UTSW 16 32,614,471 (GRCm39) missense possibly damaging 0.69
R9474:Muc20 UTSW 16 32,614,453 (GRCm39) missense probably damaging 1.00
R9486:Muc20 UTSW 16 32,615,248 (GRCm39) missense possibly damaging 0.92
R9603:Muc20 UTSW 16 32,615,155 (GRCm39) missense probably damaging 0.97
R9710:Muc20 UTSW 16 32,615,266 (GRCm39) missense possibly damaging 0.92
W0251:Muc20 UTSW 16 32,614,223 (GRCm39) missense possibly damaging 0.91
X0011:Muc20 UTSW 16 32,613,622 (GRCm39) missense possibly damaging 0.79
Predicted Primers PCR Primer
(F):5'- AGCAGTTGACAGGATCCCAG -3'
(R):5'- ACCCTTTGTACCGATGACAG -3'

Sequencing Primer
(F):5'- CAGGATCCCAGATAAGCTTGTGGTC -3'
(R):5'- CTTTGTACCGATGACAGCTCTGAAG -3'
Posted On 2018-07-24