Incidental Mutation 'R9474:Muc20'
ID 715671
Institutional Source Beutler Lab
Gene Symbol Muc20
Ensembl Gene ENSMUSG00000035638
Gene Name mucin 20
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.073) question?
Stock # R9474 (G1)
Quality Score 225.009
Status Not validated
Chromosome 16
Chromosomal Location 32597793-32617805 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 32614453 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 308 (E308G)
Ref Sequence ENSEMBL: ENSMUSP00000110769 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041123] [ENSMUST00000115116]
AlphaFold Q8BUE7
Predicted Effect probably damaging
Transcript: ENSMUST00000041123
AA Change: E308G

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000041221
Gene: ENSMUSG00000035638
AA Change: E308G

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 damaging
Transcript: ENSMUST00000115116
AA Change: E308G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110769
Gene: ENSMUSG00000035638
AA Change: E308G

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610008E11Rik C A 10: 78,903,565 (GRCm39) K250N probably damaging Het
Adam5 A T 8: 25,237,540 (GRCm39) D623E possibly damaging Het
Akt3 T C 1: 176,852,952 (GRCm39) Y473C probably damaging Het
Ankib1 A G 5: 3,805,617 (GRCm39) Y217H probably damaging Het
Clca4b T A 3: 144,616,927 (GRCm39) T908S probably benign Het
Clec7a G A 6: 129,440,126 (GRCm39) Q160* probably null Het
Cntnap4 T A 8: 113,460,103 (GRCm39) I152N probably damaging Het
Ctdspl C T 9: 118,866,445 (GRCm39) A179V probably damaging Het
Ddx43 T C 9: 78,313,668 (GRCm39) S200P probably damaging Het
Dip2c A G 13: 9,544,963 (GRCm39) D84G unknown Het
Dmbt1 G A 7: 130,675,987 (GRCm39) R625H unknown Het
Dusp9 TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG X: 72,684,217 (GRCm39) probably benign Het
E2f7 C T 10: 110,603,050 (GRCm39) T355I probably damaging Het
E2f7 C A 10: 110,614,918 (GRCm39) L541M probably damaging Het
Elovl5 T A 9: 77,890,007 (GRCm39) S273T possibly damaging Het
Emc1 T A 4: 139,093,705 (GRCm39) L605Q probably damaging Het
Fras1 T A 5: 96,887,124 (GRCm39) D2635E probably benign Het
Gabrb1 G A 5: 72,265,690 (GRCm39) G195E probably damaging Het
Galm A G 17: 80,457,561 (GRCm39) D199G possibly damaging Het
Galntl6 T G 8: 58,230,359 (GRCm39) S20R probably damaging Het
Grb14 T G 2: 64,768,744 (GRCm39) Y189S probably damaging Het
Hk2 T A 6: 82,705,895 (GRCm39) I803F probably damaging Het
Hmcn1 G A 1: 150,506,471 (GRCm39) R3779W probably damaging Het
Hmgcr A C 13: 96,796,403 (GRCm39) M260R probably damaging Het
Hsbp1l1 T A 18: 80,276,639 (GRCm39) K68N possibly damaging Het
Inhba A C 13: 16,192,263 (GRCm39) E128A probably benign Het
Itpr3 G A 17: 27,337,651 (GRCm39) probably benign Het
Klhl3 G A 13: 58,167,273 (GRCm39) P364S probably damaging Het
Lhpp T C 7: 132,243,312 (GRCm39) L176P probably damaging Het
Lrp1b C A 2: 40,491,599 (GRCm39) A223S probably damaging Het
Lrp3 A G 7: 34,903,489 (GRCm39) F286L probably damaging Het
Lrrc7 T C 3: 157,841,028 (GRCm39) T1337A probably benign Het
Magi2 A G 5: 20,400,019 (GRCm39) D17G probably benign Het
Map3k21 T C 8: 126,650,903 (GRCm39) S302P probably damaging Het
Matcap2 T C 9: 22,343,015 (GRCm39) M303T probably damaging Het
Mbtd1 A G 11: 93,816,511 (GRCm39) D386G probably benign Het
Mfsd2b A T 12: 4,916,820 (GRCm39) D306E possibly damaging Het
Myh13 G A 11: 67,255,712 (GRCm39) S34N Het
Nebl C A 2: 17,374,421 (GRCm39) G894* probably null Het
Nelfa A G 5: 34,056,095 (GRCm39) Y523H probably damaging Het
Ninj1 A G 13: 49,341,076 (GRCm39) D13G probably benign Het
Ninl A T 2: 150,782,726 (GRCm39) S170T probably benign Het
Nlrp4c G A 7: 6,068,626 (GRCm39) V176M possibly damaging Het
Nobox G A 6: 43,284,115 (GRCm39) R144C probably damaging Het
Oas1a G A 5: 121,037,317 (GRCm39) L237F probably damaging Het
Or4a81 A C 2: 89,619,506 (GRCm39) Y63* probably null Het
Or52z15 A T 7: 103,332,477 (GRCm39) Y184F probably damaging Het
Or5w20 T C 2: 87,726,693 (GRCm39) M50T probably benign Het
Or6z1 A G 7: 6,505,150 (GRCm39) L25P probably benign Het
Or7c70 T C 10: 78,682,891 (GRCm39) N286S probably damaging Het
Or8h9 A G 2: 86,789,757 (GRCm39) M15T probably benign Het
Orai1 A G 5: 123,167,301 (GRCm39) N158S probably damaging Het
Pa2g4 C A 10: 128,398,967 (GRCm39) V121L probably benign Het
Pclo T C 5: 14,571,250 (GRCm39) S212P possibly damaging Het
Plce1 G A 19: 38,766,337 (GRCm39) E2121K possibly damaging Het
Plg A G 17: 12,622,024 (GRCm39) Y448C probably damaging Het
Plppr4 A T 3: 117,116,866 (GRCm39) N330K probably damaging Het
Pou2f2 A G 7: 24,794,247 (GRCm39) L373S probably benign Het
Rnpep A G 1: 135,211,341 (GRCm39) F136L probably benign Het
Rp1 A G 1: 4,162,838 (GRCm39) probably null Het
Shank1 G A 7: 43,962,342 (GRCm39) S71N unknown Het
Slc5a4a GCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGC GCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGC 10: 75,986,238 (GRCm39) probably benign Het
Slc5a5 T C 8: 71,337,596 (GRCm39) D574G probably benign Het
Slc7a15 T A 12: 8,588,794 (GRCm39) N251I probably damaging Het
Speer4a3 A T 5: 26,158,136 (GRCm39) I72N probably damaging Het
Susd4 T C 1: 182,719,665 (GRCm39) S427P probably benign Het
Tarbp1 T A 8: 127,155,779 (GRCm39) T1320S probably benign Het
Tbpl2 C T 2: 23,984,650 (GRCm39) V166I probably benign Het
Thbs1 T C 2: 117,950,518 (GRCm39) probably null Het
Tnfsf13b A G 8: 10,081,648 (GRCm39) Y270C probably damaging Het
Vps11 G T 9: 44,260,290 (GRCm39) C857* probably null Het
Vsig10 G A 5: 117,463,104 (GRCm39) R110H probably benign Het
Wee2 T A 6: 40,432,044 (GRCm39) Y204* probably null Het
Zfpm2 T A 15: 40,966,867 (GRCm39) S1117R probably damaging Het
Zscan5b A G 7: 6,234,472 (GRCm39) N166S probably benign 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
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
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'- TGAAGGCAACCAACCCCTTG -3'
(R):5'- GACCATCTCACCTATTGAATTGACC -3'

Sequencing Primer
(F):5'- AACCCCTTGGCTGGAGTTG -3'
(R):5'- TTTCCACTGTAACGGAGACCAG -3'
Posted On 2022-06-15