Mutagenetix > Incidental Mutations

Incidental Mutation 'R4986:Muc20'

446605

Institutional Source

Beutler Lab

Gene Symbol

Muc20

Ensembl Gene

ENSMUSG00000035638

Gene Name

mucin 20

Synonyms

MMRRC Submission

042580-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R4986 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

32777419-32797435 bp(-) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

A to G at 32777635 bp

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000096106] [ENSMUST00000115116]

Predicted Effect

probably benign
Transcript: ENSMUST00000096106

SMART Domains

Protein: ENSMUSP00000093813
Gene: ENSMUSG00000079620

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
low complexity region	37	65	N/A	INTRINSIC
low complexity region	86	111	N/A	INTRINSIC
internal_repeat_2	119	903	6.07e-127	PROSPERO
internal_repeat_1	164	987	3.47e-144	PROSPERO
internal_repeat_2	979	1875	6.07e-127	PROSPERO
internal_repeat_1	1193	2087	3.47e-144	PROSPERO
low complexity region	2090	2106	N/A	INTRINSIC
low complexity region	2111	2119	N/A	INTRINSIC
low complexity region	2186	2195	N/A	INTRINSIC
low complexity region	2230	2249	N/A	INTRINSIC
low complexity region	2324	2332	N/A	INTRINSIC
low complexity region	2344	2367	N/A	INTRINSIC
NIDO	2458	2615	8.33e-67	SMART
AMOP	2614	2726	1.29e-47	SMART
VWD	2729	2910	4.23e-26	SMART
EGF_like	3134	3166	3.23e1	SMART
EGF_like	3176	3212	3.5e1	SMART
low complexity region	3237	3251	N/A	INTRINSIC
EGF	3384	3421	1.4e0	SMART
transmembrane domain	3430	3452	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000115116

SMART Domains

Protein: ENSMUSP00000110769
Gene: ENSMUSG00000035638

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000115119

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131419

Predicted Effect

probably benign
Transcript: ENSMUST00000135753

SMART Domains

Protein: ENSMUSP00000119154
Gene: ENSMUSG00000079620

Domain	Start	End	E-Value	Type
low complexity region	21	37	N/A	INTRINSIC
low complexity region	42	50	N/A	INTRINSIC
low complexity region	117	126	N/A	INTRINSIC
low complexity region	161	180	N/A	INTRINSIC
low complexity region	255	263	N/A	INTRINSIC
low complexity region	275	298	N/A	INTRINSIC
NIDO	389	546	8.33e-67	SMART
AMOP	545	657	1.29e-47	SMART
VWD	660	841	4.23e-26	SMART
EGF_like	1065	1097	3.23e1	SMART
EGF_like	1107	1143	3.5e1	SMART
low complexity region	1168	1182	N/A	INTRINSIC
EGF	1315	1352	1.4e0	SMART
transmembrane domain	1361	1383	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142355

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143297

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149773

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.5%
20x: 89.2%

Validation Efficiency

95% (41/43)

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3632451O06Rik	A	T	14: 49,751,654	D619E	probably damaging	Het
Abcc9	A	T	6: 142,627,591	C1005S	probably benign	Het
Ccdc34	T	C	2: 110,017,869	M1T	probably null	Het
Ceacam5	T	A	7: 17,757,833	N709K	possibly damaging	Het
Ces2f	G	A	8: 104,952,025	S298N	probably benign	Het
Defa30	T	A	8: 21,135,416	Y65*	probably null	Het
Dock3	A	C	9: 106,931,983	C1314G	probably damaging	Het
Emc2	A	G	15: 43,511,784	M226V	probably benign	Het
Fat3	T	C	9: 15,998,340	Y2122C	probably damaging	Het
Gad1	A	G	2: 70,600,693	D560G	probably benign	Het
Gm9944	T	C	4: 144,453,190		probably benign	Het
Gpr137c	A	T	14: 45,246,286		probably null	Het
Igf2bp2	C	T	16: 22,070,306		probably null	Het
Igsf10	T	C	3: 59,328,606	T1385A	probably benign	Het
Itpr2	T	A	6: 146,240,342	N1734I	probably damaging	Het
Kbtbd6	A	G	14: 79,452,609	H248R	probably damaging	Het
Macf1	C	T	4: 123,391,121	R5650Q	probably damaging	Het
Mdh1	A	G	11: 21,558,545	F266L	possibly damaging	Het
Mecom	G	T	3: 29,980,699	P466Q	probably damaging	Het
Olfr1151	T	A	2: 87,857,514	L113Q	probably damaging	Het
Olfr1265	A	T	2: 90,037,428	N170Y	probably damaging	Het
Osmr	A	G	15: 6,816,580		probably null	Het
Rrs1	G	A	1: 9,545,767	E82K	probably damaging	Het
Sacs	T	A	14: 61,213,043	Y4179*	probably null	Het
Sept11	T	C	5: 93,161,241	V203A	probably damaging	Het
Skint9	T	A	4: 112,391,713	T173S	probably benign	Het
Slain1	A	T	14: 103,688,105	R296S	probably damaging	Het
Slc36a3	T	A	11: 55,146,766	*93C	probably null	Het
Sp110	G	A	1: 85,591,760	P116S	probably benign	Het
Srl	T	C	16: 4,496,782	Y332C	probably benign	Het
Ubtf	G	A	11: 102,314,174	H95Y	probably benign	Het
Ugt1a1	CAGAGAGAGAGAGA	CAGAGAGAGAGA	1: 88,211,984		probably benign	Het
Wdfy3	C	T	5: 101,943,119	D532N	probably benign	Het
Ybx1	C	T	4: 119,282,430	V123I	probably damaging	Het
Zfp944	A	T	17: 22,339,230	H345Q	probably damaging	Het
Zfp993	T	A	4: 146,657,557	F113I	probably benign	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
IGL02415:Muc20	APN	16	32794681	missense	unknown
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
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
W0251:Muc20	UTSW	16	32793853	missense	possibly damaging	0.91
X0011:Muc20	UTSW	16	32793252	missense	possibly damaging	0.79

Predicted Primers

PCR Primer
(F):5'- TCATCTGCAGAGGACAGACG -3'
(R):5'- TGAAGGATGTGTAAGCTACTGCAAG -3'

Sequencing Primer
(F):5'- TCAATAAGACGCTGTTGGCC -3'
(R):5'- ATGTGTAAGCTACTGCAAGGTCCC -3'

Posted On

2016-11-22