Incidental Mutation 'R4893:Muc20'
ID 377435
Institutional Source Beutler Lab
Gene Symbol Muc20
Ensembl Gene ENSMUSG00000035638
Gene Name mucin 20
Synonyms
MMRRC Submission 042498-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.073) question?
Stock # R4893 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 32597793-32617805 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 32615042 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 112 (T112A)
Ref Sequence ENSEMBL: ENSMUSP00000110769 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041123] [ENSMUST00000115116]
AlphaFold Q8BUE7
Predicted Effect possibly damaging
Transcript: ENSMUST00000041123
AA Change: T112A

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000041221
Gene: ENSMUSG00000035638
AA Change: T112A

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 possibly damaging
Transcript: ENSMUST00000115116
AA Change: T112A

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000110769
Gene: ENSMUSG00000035638
AA Change: T112A

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
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.8%
Validation Efficiency
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030J22Rik A G 8: 117,697,904 (GRCm39) I401T probably damaging Het
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
Acss1 C A 2: 150,471,786 (GRCm39) V323F probably damaging Het
Adgrf3 T G 5: 30,405,476 (GRCm39) D286A probably benign Het
Akap5 T C 12: 76,376,743 (GRCm39) V718A probably damaging Het
Ankk1 A G 9: 49,326,983 (GRCm39) V732A probably benign Het
Antxr2 T A 5: 98,151,931 (GRCm39) D180V probably damaging Het
Arfgef2 T G 2: 166,708,876 (GRCm39) F1063V probably benign Het
Ascl5 A T 1: 135,978,917 (GRCm39) I126F probably damaging Het
Aspm T A 1: 139,417,577 (GRCm39) probably null Het
Atf6b T C 17: 34,867,586 (GRCm39) S100P probably damaging Het
Baz2a C A 10: 127,959,284 (GRCm39) H1266Q possibly damaging Het
Cdh4 A T 2: 179,489,212 (GRCm39) probably benign Het
Celsr3 C G 9: 108,726,620 (GRCm39) S3283C probably damaging Het
Clca4b C T 3: 144,630,934 (GRCm39) V309M possibly damaging Het
Cnbd2 T C 2: 156,207,104 (GRCm39) Y436H probably damaging Het
Csnk1a1 T C 18: 61,718,372 (GRCm39) probably benign Het
Cstf1 C T 2: 172,222,444 (GRCm39) R401C probably damaging Het
Cul3 A G 1: 80,266,567 (GRCm39) I117T probably damaging Het
Dlgap3 A G 4: 127,088,776 (GRCm39) D124G probably damaging Het
Dnah12 A G 14: 26,431,325 (GRCm39) D381G possibly damaging Het
Dtna T C 18: 23,702,724 (GRCm39) L85P probably damaging Het
Ephb2 A G 4: 136,387,064 (GRCm39) I722T probably damaging Het
Epn3 A T 11: 94,382,822 (GRCm39) F421I probably damaging Het
Fam83f T A 15: 80,576,156 (GRCm39) L269H probably damaging Het
Fhip2a T A 19: 57,370,188 (GRCm39) H477Q probably benign Het
Gata4 G A 14: 63,439,045 (GRCm39) A139V probably benign Het
Glce T C 9: 61,975,777 (GRCm39) D241G probably benign Het
Gm17728 A T 17: 9,641,063 (GRCm39) I58F probably benign Het
Inhba A T 13: 16,201,134 (GRCm39) D232V possibly damaging Het
Itgb2l C A 16: 96,229,021 (GRCm39) R394L probably benign Het
Klhl14 T C 18: 21,690,992 (GRCm39) Y486C probably damaging Het
Krt1 A G 15: 101,758,555 (GRCm39) I203T probably damaging Het
Lims2 T C 18: 32,074,864 (GRCm39) probably null Het
Lrrc31 T G 3: 30,733,446 (GRCm39) I423L probably benign Het
Map7d1 C T 4: 126,127,015 (GRCm39) D732N unknown Het
Mau2 A T 8: 70,483,290 (GRCm39) probably null Het
Mbtps1 G A 8: 120,244,932 (GRCm39) R840W probably damaging Het
Morn3 T C 5: 123,175,745 (GRCm39) I214M probably damaging Het
Mrpl44 A G 1: 79,755,582 (GRCm39) K63E probably damaging Het
Myo6 T A 9: 80,136,159 (GRCm39) L94Q probably damaging Het
Nos1 C A 5: 118,090,942 (GRCm39) T1423K possibly damaging Het
Or2l13 A G 16: 19,305,653 (GRCm39) T22A probably benign Het
Or2t1 T C 14: 14,328,852 (GRCm38) V247A probably damaging Het
Pdzd2 T C 15: 12,385,429 (GRCm39) T1114A probably benign Het
Pgm2 T C 5: 64,263,283 (GRCm39) V310A probably benign Het
Pi4ka T C 16: 17,194,900 (GRCm39) E166G probably benign Het
Pign A T 1: 105,574,436 (GRCm39) D303E probably damaging Het
Pik3c3 G T 18: 30,415,053 (GRCm39) V149L probably benign Het
Pkd1l3 A T 8: 110,365,026 (GRCm39) Y1126F probably benign Het
Pkd2l1 T A 19: 44,142,210 (GRCm39) Q516L probably benign Het
Pnliprp2 C A 19: 58,759,853 (GRCm39) Q355K probably benign Het
Pnpla7 T A 2: 24,943,688 (GRCm39) Y1314* probably null Het
Ppp1r1b A G 11: 98,246,170 (GRCm39) T51A possibly damaging Het
Prkcd A T 14: 30,321,382 (GRCm39) S544T probably damaging Het
Pusl1 G A 4: 155,973,998 (GRCm39) T252I probably benign Het
Rnf44 A G 13: 54,829,745 (GRCm39) probably null Het
Slc24a2 A T 4: 87,145,145 (GRCm39) V303E probably damaging Het
Slc28a2 T A 2: 122,285,697 (GRCm39) probably null Het
Sox8 T C 17: 25,787,963 (GRCm39) D162G probably damaging Het
Spag1 T C 15: 36,197,992 (GRCm39) probably null Het
Taar6 T C 10: 23,861,298 (GRCm39) I83V probably benign Het
Tes T A 6: 17,104,595 (GRCm39) C359S probably damaging Het
Vmn2r4 A T 3: 64,313,676 (GRCm39) L435H probably damaging Het
Zfhx3 G T 8: 109,683,639 (GRCm39) D3693Y unknown Het
Zfp931 G A 2: 177,709,996 (GRCm39) P130L probably damaging Het
Zfr T G 15: 12,136,628 (GRCm39) V95G unknown Het
Zw10 A G 9: 48,985,325 (GRCm39) E587G possibly 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
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
R6669:Muc20 UTSW 16 32,614,307 (GRCm39) missense possibly damaging 0.94
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'- GTATCCAGGAATGATGGTGCAG -3'
(R):5'- GGTGACAACCAACAACATGG -3'

Sequencing Primer
(F):5'- CAGGAGAAGTGGTCTGGGTACTC -3'
(R):5'- TTCACTCAAAGGGACAGGC -3'
Posted On 2016-03-17