Mutagenetix > Incidental Mutations

Incidental Mutation 'R5195:Muc20'

400168

Institutional Source

Beutler Lab

Gene Symbol

Muc20

Ensembl Gene

ENSMUSG00000035638

Gene Name

mucin 20

Synonyms

MMRRC Submission

042771-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R5195 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

32777419-32797435 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 32794476 bp

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]

Predicted Effect

unknown
Transcript: ENSMUST00000041123
AA Change: S177L

SMART Domains

Protein: ENSMUSP00000041221
Gene: ENSMUSG00000035638
AA Change: S177L

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: S177L

SMART Domains

Protein: ENSMUSP00000110769
Gene: ENSMUSG00000035638
AA Change: S177L

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

Meta Mutation Damage Score

0.0869

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700023F06Rik	T	C	11: 103,198,968	Y381C	probably damaging	Het
Apoo-ps	T	C	13: 107,414,553		noncoding transcript	Het
Arhgef40	T	A	14: 51,989,812	S438T	possibly damaging	Het
Barhl2	A	G	5: 106,453,439	L358P	possibly damaging	Het
Bicra	G	A	7: 15,979,953	P775S	possibly damaging	Het
Ccdc78	T	A	17: 25,789,988		probably null	Het
Ccnb1-ps	T	A	7: 42,106,098		noncoding transcript	Het
Cct6a	A	T	5: 129,794,655		noncoding transcript	Het
Cep120	T	A	18: 53,721,698	H455L	probably damaging	Het
Cobl	C	T	11: 12,253,565	V964I	probably benign	Het
Cpt1a	A	T	19: 3,383,800	I761F	possibly damaging	Het
Crk	T	A	11: 75,679,463	Y14N	probably damaging	Het
Deup1	A	T	9: 15,575,191	Y398N	possibly damaging	Het
Epha3	C	T	16: 63,546,147	G980D	possibly damaging	Het
Fam196a	A	T	7: 134,884,416	F469I	probably damaging	Het
Fanca	A	G	8: 123,303,945		probably benign	Het
Gbp4	T	A	5: 105,119,532	D507V	probably benign	Het
Gtf2i	A	T	5: 134,244,832	L740*	probably null	Het
Hmgn2	C	A	4: 133,967,286	A8S	probably benign	Het
Hook2	A	T	8: 84,994,776	N252I	probably damaging	Het
Igkv19-93	T	A	6: 68,736,526	T39S	probably damaging	Het
Inpp5j	A	C	11: 3,499,889		probably null	Het
Kbtbd3	G	C	9: 4,316,905	E19Q	possibly damaging	Het
Kcns2	G	A	15: 34,839,531	A347T	possibly damaging	Het
Klhl31	A	G	9: 77,650,290	E96G	possibly damaging	Het
Kptn	A	G	7: 16,123,103	Y172C	probably damaging	Het
Krt86	T	A	15: 101,476,933	M328K	probably benign	Het
Lama1	A	G	17: 67,764,800	D894G	probably benign	Het
Lars2	T	C	9: 123,453,310	V653A	probably damaging	Het
Lgr6	C	T	1: 134,994,010	A199T	probably damaging	Het
Lhcgr	A	T	17: 88,742,946	V384D	probably damaging	Het
Malrd1	C	T	2: 16,150,810	T2010M	unknown	Het
Maml2	T	A	9: 13,621,114	N541K	probably damaging	Het
Med24	T	C	11: 98,710,281	K585R	possibly damaging	Het
Mylk	T	A	16: 34,979,215	F1658L	probably damaging	Het
Obscn	C	T	11: 59,060,850	V4392I	possibly damaging	Het
Olfr744	T	C	14: 50,618,786	L188P	probably damaging	Het
Olfr975	A	G	9: 39,950,679	S31P	probably benign	Het
Pcnx2	A	T	8: 125,801,549	F1311I	possibly damaging	Het
Pcsk1	T	C	13: 75,126,855	L521P	probably damaging	Het
Pde4a	A	G	9: 21,204,333	T445A	possibly damaging	Het
Pgam5	A	T	5: 110,265,988	L103*	probably null	Het
Pkd2	G	A	5: 104,486,681	R526Q	probably benign	Het
Polr2a	T	C	11: 69,744,079	Y618C	probably damaging	Het
Pramef25	T	A	4: 143,950,880	E43V	probably damaging	Het
Pramel5	T	A	4: 144,271,741	M311L	probably benign	Het
Rbbp8	T	C	18: 11,722,151	F478L	probably benign	Het
Rufy4	T	C	1: 74,147,663	C537R	probably damaging	Het
Ryk	T	C	9: 102,867,613	V122A	probably benign	Het
Sik3	G	T	9: 46,208,844		probably null	Het
Slc22a30	G	A	19: 8,344,393	Q436*	probably null	Het
Slc35e4	T	A	11: 3,912,872	I106F	possibly damaging	Het
Slc41a3	T	C	6: 90,633,671	S172P	probably damaging	Het
Snrnp70	T	A	7: 45,394,710	K32N	probably damaging	Het
Spag17	T	C	3: 100,101,388	Y1945H	probably benign	Het
St7	A	G	6: 17,743,637		probably benign	Het
Stab1	C	A	14: 31,140,521		probably benign	Het
Taf13	G	A	3: 108,581,074	R91Q	probably damaging	Het
Tmem200a	T	C	10: 26,078,956		probably benign	Het
Tnc	A	T	4: 63,967,252	L1871Q	probably damaging	Het
Toe1	T	C	4: 116,804,655	H439R	probably damaging	Het
Trpm1	T	C	7: 64,237,693	V893A	possibly damaging	Het
Ubr3	G	A	2: 69,956,034	A831T	probably benign	Het
Wdr89	C	T	12: 75,633,288	R64Q	probably benign	Het
Zbed5	G	T	5: 129,902,178	V323F	probably benign	Het
Zeb2	T	C	2: 45,001,635	R287G	probably 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
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
R4986:Muc20	UTSW	16	32777635	intron	probably benign
R5191: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'- CCGTTACAGTGGAAATGGTTTG -3'
(R):5'- TCCTGCAGCATCATCCCTAG -3'

Sequencing Primer
(F):5'- GTCAATTCAATAGGTGAGATGGTC -3'
(R):5'- GCATCATCCCTAGAGGCCCAG -3'

Posted On

2016-07-06