Incidental Mutation 'R5195:Muc20'
ID 400168
Institutional Source Beutler Lab
Gene Symbol Muc20
Ensembl Gene ENSMUSG00000035638
Gene Name mucin 20
Synonyms
MMRRC Submission 042771-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.073) question?
Stock # R5195 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 32597793-32617805 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 32614846 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Leucine at position 177 (S177L)
Ref Sequence ENSEMBL: ENSMUSP00000110769 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041123] [ENSMUST00000115116]
AlphaFold Q8BUE7
Predicted Effect unknown
Transcript: ENSMUST00000041123
AA Change: S177L
SMART Domains Protein: ENSMUSP00000041221
Gene: ENSMUSG00000035638
AA Change: S177L

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 unknown
Transcript: ENSMUST00000115116
AA Change: S177L
SMART Domains Protein: ENSMUSP00000110769
Gene: ENSMUSG00000035638
AA Change: S177L

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 0.0869 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 97% (72/74)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apoo-ps T C 13: 107,551,053 (GRCm39) noncoding transcript Het
Arhgef40 T A 14: 52,227,269 (GRCm39) S438T possibly damaging Het
Barhl2 A G 5: 106,601,305 (GRCm39) L358P possibly damaging Het
Bicra G A 7: 15,713,878 (GRCm39) P775S possibly damaging Het
Ccdc78 T A 17: 26,008,962 (GRCm39) probably null Het
Ccnb1-ps T A 7: 41,755,522 (GRCm39) noncoding transcript Het
Cct6a A T 5: 129,871,718 (GRCm39) noncoding transcript Het
Cep120 T A 18: 53,854,770 (GRCm39) H455L probably damaging Het
Cobl C T 11: 12,203,565 (GRCm39) V964I probably benign Het
Cpt1a A T 19: 3,433,800 (GRCm39) I761F possibly damaging Het
Crk T A 11: 75,570,289 (GRCm39) Y14N probably damaging Het
Deup1 A T 9: 15,486,487 (GRCm39) Y398N possibly damaging Het
Efcab15 T C 11: 103,089,794 (GRCm39) Y381C probably damaging Het
Epha3 C T 16: 63,366,510 (GRCm39) G980D possibly damaging Het
Fanca A G 8: 124,030,684 (GRCm39) probably benign Het
Gbp4 T A 5: 105,267,398 (GRCm39) D507V probably benign Het
Gtf2i A T 5: 134,273,686 (GRCm39) L740* probably null Het
Hmgn2 C A 4: 133,694,597 (GRCm39) A8S probably benign Het
Hook2 A T 8: 85,721,405 (GRCm39) N252I probably damaging Het
Igkv19-93 T A 6: 68,713,510 (GRCm39) T39S probably damaging Het
Inpp5j A C 11: 3,449,889 (GRCm39) probably null Het
Insyn2a A T 7: 134,486,145 (GRCm39) F469I probably damaging Het
Kbtbd3 G C 9: 4,316,905 (GRCm39) E19Q possibly damaging Het
Kcns2 G A 15: 34,839,677 (GRCm39) A347T possibly damaging Het
Klhl31 A G 9: 77,557,572 (GRCm39) E96G possibly damaging Het
Kptn A G 7: 15,857,028 (GRCm39) Y172C probably damaging Het
Krt86 T A 15: 101,374,814 (GRCm39) M328K probably benign Het
Lama1 A G 17: 68,071,795 (GRCm39) D894G probably benign Het
Lars2 T C 9: 123,282,375 (GRCm39) V653A probably damaging Het
Lgr6 C T 1: 134,921,748 (GRCm39) A199T probably damaging Het
Lhcgr A T 17: 89,050,374 (GRCm39) V384D probably damaging Het
Malrd1 C T 2: 16,155,621 (GRCm39) T2010M unknown Het
Maml2 T A 9: 13,532,410 (GRCm39) N541K probably damaging Het
Med24 T C 11: 98,601,107 (GRCm39) K585R possibly damaging Het
Mylk T A 16: 34,799,585 (GRCm39) F1658L probably damaging Het
Obscn C T 11: 58,951,676 (GRCm39) V4392I possibly damaging Het
Or10d5 A G 9: 39,861,975 (GRCm39) S31P probably benign Het
Or11g2 T C 14: 50,856,243 (GRCm39) L188P probably damaging Het
Pcnx2 A T 8: 126,528,288 (GRCm39) F1311I possibly damaging Het
Pcsk1 T C 13: 75,274,974 (GRCm39) L521P probably damaging Het
Pde4a A G 9: 21,115,629 (GRCm39) T445A possibly damaging Het
Pgam5 A T 5: 110,413,854 (GRCm39) L103* probably null Het
Pkd2 G A 5: 104,634,547 (GRCm39) R526Q probably benign Het
Polr2a T C 11: 69,634,905 (GRCm39) Y618C probably damaging Het
Pramel16 T A 4: 143,677,450 (GRCm39) E43V probably damaging Het
Pramel5 T A 4: 143,998,311 (GRCm39) M311L probably benign Het
Rbbp8 T C 18: 11,855,208 (GRCm39) F478L probably benign Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Ryk T C 9: 102,744,812 (GRCm39) V122A probably benign Het
Sik3 G T 9: 46,120,142 (GRCm39) probably null Het
Slc22a30 G A 19: 8,321,757 (GRCm39) Q436* probably null Het
Slc35e4 T A 11: 3,862,872 (GRCm39) I106F possibly damaging Het
Slc41a3 T C 6: 90,610,653 (GRCm39) S172P probably damaging Het
Snrnp70 T A 7: 45,044,134 (GRCm39) K32N probably damaging Het
Spag17 T C 3: 100,008,704 (GRCm39) Y1945H probably benign Het
St7 A G 6: 17,743,636 (GRCm39) probably benign Het
Stab1 C A 14: 30,862,478 (GRCm39) probably benign Het
Taf13 G A 3: 108,488,390 (GRCm39) R91Q probably damaging Het
Tmem200a T C 10: 25,954,854 (GRCm39) probably benign Het
Tnc A T 4: 63,885,489 (GRCm39) L1871Q probably damaging Het
Toe1 T C 4: 116,661,852 (GRCm39) H439R probably damaging Het
Trpm1 T C 7: 63,887,441 (GRCm39) V893A possibly damaging Het
Ubr3 G A 2: 69,786,378 (GRCm39) A831T probably benign Het
Wdr89 C T 12: 75,680,062 (GRCm39) R64Q probably benign Het
Zbed5 G T 5: 129,931,019 (GRCm39) V323F probably benign Het
Zeb2 T C 2: 44,891,647 (GRCm39) R287G 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
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'- CCGTTACAGTGGAAATGGTTTG -3'
(R):5'- TCCTGCAGCATCATCCCTAG -3'

Sequencing Primer
(F):5'- GTCAATTCAATAGGTGAGATGGTC -3'
(R):5'- GCATCATCCCTAGAGGCCCAG -3'
Posted On 2016-07-06