Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02415:Muc20'

292403

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Muc20

Ensembl Gene

ENSMUSG00000035638

Gene Name

mucin 20

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

IGL02415

Quality Score

Status

Chromosome

Chromosomal Location

32777419-32797435 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 32794681 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 109 (T109S)

Ref Sequence

ENSEMBL: ENSMUSP00000110769 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041123] [ENSMUST00000115116]

AlphaFold

Q8BUE7

Predicted Effect

unknown
Transcript: ENSMUST00000041123
AA Change: T109S

SMART Domains

Protein: ENSMUSP00000041221
Gene: ENSMUSG00000035638
AA Change: T109S

Domain	Start	End	E-Value	Type
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: T109S

SMART Domains

Protein: ENSMUSP00000110769
Gene: ENSMUSG00000035638
AA Change: T109S

Domain	Start	End	E-Value	Type
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

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110059G10Rik	T	C	9: 122,947,991	D124G	probably benign	Het
Adamts13	T	A	2: 26,989,283	I616N	possibly damaging	Het
Adamts3	T	C	5: 89,706,647		probably null	Het
Amy1	T	C	3: 113,563,585	I202V	probably benign	Het
Bdp1	G	A	13: 100,089,408	T322I	probably damaging	Het
Cep295	A	G	9: 15,353,020	L110S	probably damaging	Het
Cep72	T	C	13: 74,050,154	D369G	probably benign	Het
Chd3	A	T	11: 69,348,913		probably benign	Het
Ckmt2	G	A	13: 91,863,340		probably benign	Het
Cyp2s1	T	C	7: 25,808,137	T296A	probably damaging	Het
E2f5	T	A	3: 14,603,897	V283E	probably benign	Het
F5	A	G	1: 164,191,929	T658A	probably damaging	Het
Fam102b	A	G	3: 108,980,292	Y219H	probably damaging	Het
Gml	A	T	15: 74,816,440	Y59*	probably null	Het
Kmo	A	T	1: 175,649,323		probably benign	Het
Krt25	A	T	11: 99,322,572	I107N	probably damaging	Het
Llgl2	A	G	11: 115,853,285	M773V	probably damaging	Het
Lyst	G	A	13: 13,660,956	C1741Y	probably benign	Het
Med12	T	C	X: 101,281,790	V761A	probably damaging	Het
Mrpl19	T	C	6: 81,963,961	T150A	probably benign	Het
Muc2	G	T	7: 141,751,872	E646*	probably null	Het
Nr2f6	T	C	8: 71,374,512	T382A	probably benign	Het
Nrap	A	G	19: 56,382,309	I172T	probably damaging	Het
Olfr1434	A	G	19: 12,283,498	Y150C	probably benign	Het
Olfr911-ps1	T	C	9: 38,524,112	C127R	probably benign	Het
P3h1	A	T	4: 119,247,955	Q710L	probably benign	Het
Parvb	A	G	15: 84,292,815	H185R	probably damaging	Het
Pkhd1	T	C	1: 20,522,759	Y1710C	probably damaging	Het
Pkhd1	A	G	1: 20,414,421	I1970T	probably damaging	Het
Plxna2	C	A	1: 194,643,964	R69S	probably damaging	Het
Rad51ap2	A	G	12: 11,456,929	N284S	possibly damaging	Het
Reln	T	A	5: 21,971,951	S1906C	possibly damaging	Het
Rln1	T	C	19: 29,334,398	R67G	probably damaging	Het
Shcbp1	C	T	8: 4,754,239	V224I	possibly damaging	Het
Slc13a4	A	G	6: 35,283,237		probably null	Het
Stx6	A	G	1: 155,193,313	E195G	possibly damaging	Het
Sult2b1	G	T	7: 45,742,085	D90E	possibly damaging	Het
Taok1	A	G	11: 77,540,240		probably benign	Het
Tbx15	A	T	3: 99,352,510	M566L	probably benign	Het
Tcaf1	C	T	6: 42,686,650	A99T	probably benign	Het
Tcf20	T	A	15: 82,853,459	M1264L	probably benign	Het
Tenm4	G	A	7: 96,874,074	V1571M	probably damaging	Het
Ttc39a	A	G	4: 109,431,529		probably benign	Het
Ubr1	C	A	2: 120,970,603		probably benign	Het
Ulk1	T	C	5: 110,787,621	D926G	probably damaging	Het
Vmn2r110	T	C	17: 20,583,771	I181V	probably benign	Het
Vmn2r66	G	A	7: 85,006,812	T332I	probably damaging	Het
Wdr1	C	A	5: 38,531,110	D161Y	probably damaging	Het
Wnt7a	T	C	6: 91,394,557	Y141C	probably damaging	Het
Xrra1	G	A	7: 99,915,943	E573K	probably benign	Het
Zfp334	G	T	2: 165,381,851	Q91K	possibly damaging	Het

Other mutations in Muc20

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01953:Muc20	APN	16	32793703	missense	probably benign	0.10
IGL02016:Muc20	APN	16	32797352	missense	possibly damaging	0.46
IGL02092:Muc20	APN	16	32794272	missense	probably damaging	0.99
R6669_muc20_072	UTSW	16	32793937	missense	possibly damaging	0.94
R0552:Muc20	UTSW	16	32793930	missense	probably damaging	0.98
R0629:Muc20	UTSW	16	32793421	missense	possibly damaging	0.66
R0669:Muc20	UTSW	16	32794480	missense	unknown
R0725:Muc20	UTSW	16	32793488	missense	probably benign	0.05
R1676:Muc20	UTSW	16	32794279	missense	probably damaging	1.00
R1771:Muc20	UTSW	16	32793852	missense	probably damaging	0.97
R1778:Muc20	UTSW	16	32794141	missense	possibly damaging	0.49
R1967:Muc20	UTSW	16	32794242	missense	probably benign	0.03
R2104:Muc20	UTSW	16	32794177	missense	probably damaging	0.99
R3054:Muc20	UTSW	16	32779029	missense	probably benign	0.18
R4704:Muc20	UTSW	16	32779074	missense	possibly damaging	0.70
R4893:Muc20	UTSW	16	32794672	missense	possibly damaging	0.66
R4986:Muc20	UTSW	16	32777635	intron	probably benign
R5191:Muc20	UTSW	16	32794476	missense	unknown
R5195:Muc20	UTSW	16	32794476	missense	unknown
R5875:Muc20	UTSW	16	32793819	missense	possibly damaging	0.93
R5931:Muc20	UTSW	16	32794574	missense	possibly damaging	0.81
R6434:Muc20	UTSW	16	32794806	missense	probably benign	0.01
R6523:Muc20	UTSW	16	32793450	missense	possibly damaging	0.90
R6580:Muc20	UTSW	16	32793489	missense	possibly damaging	0.77
R6669:Muc20	UTSW	16	32793937	missense	possibly damaging	0.94
R7028:Muc20	UTSW	16	32794246	missense	probably benign	0.03
R7681:Muc20	UTSW	16	32793619	missense	probably benign	0.34
R7722:Muc20	UTSW	16	32797386	missense	probably benign	0.00
R8678:Muc20	UTSW	16	32797419	start gained	probably benign
R8730:Muc20	UTSW	16	32779116	missense	probably benign	0.03
R8838:Muc20	UTSW	16	32793459	missense	possibly damaging	0.64
R9017:Muc20	UTSW	16	32794470	missense	unknown
R9230:Muc20	UTSW	16	32793214	missense	probably damaging	1.00
R9368:Muc20	UTSW	16	32794101	missense	possibly damaging	0.69
W0251:Muc20	UTSW	16	32793853	missense	possibly damaging	0.91
X0011:Muc20	UTSW	16	32793252	missense	possibly damaging	0.79

Posted On

2015-04-16