Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02016:Muc20'

183749

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Muc20

Ensembl Gene

ENSMUSG00000035638

Gene Name

mucin 20

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

IGL02016

Quality Score

Status

Chromosome

Chromosomal Location

32597793-32617805 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 32617722 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Tyrosine at position 14 (F14Y)

Ref Sequence

ENSEMBL: ENSMUSP00000110769 (fasta)

Gene Model

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

AlphaFold

Q8BUE7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000041123
AA Change: F14Y

PolyPhen 2 Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000041221
Gene: ENSMUSG00000035638
AA Change: F14Y

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

possibly damaging
Transcript: ENSMUST00000115116
AA Change: F14Y

PolyPhen 2 Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000110769
Gene: ENSMUSG00000035638
AA Change: F14Y

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810024B03Rik	C	A	2: 127,028,875 (GRCm39)	G108V	probably damaging	Het
A2ml1	T	C	6: 128,535,298 (GRCm39)	E804G	probably damaging	Het
Abcg4	G	A	9: 44,198,647 (GRCm39)	T35M	probably damaging	Het
Acad9	A	T	3: 36,142,635 (GRCm39)		probably null	Het
Adgrv1	T	C	13: 81,545,572 (GRCm39)	D5571G	probably damaging	Het
App	T	A	16: 84,853,409 (GRCm39)	D223V	unknown	Het
Arhgap30	A	G	1: 171,235,315 (GRCm39)	E563G	probably damaging	Het
Atp6v1e2	A	T	17: 87,251,822 (GRCm39)	V192D	probably damaging	Het
Atr	G	A	9: 95,809,228 (GRCm39)	V1969I	probably benign	Het
Bean1	T	C	8: 104,937,550 (GRCm39)	L43S	possibly damaging	Het
Cand1	A	G	10: 119,048,473 (GRCm39)	V436A	probably damaging	Het
Card6	T	C	15: 5,137,738 (GRCm39)	I39V	probably damaging	Het
Ccdc73	A	G	2: 104,805,961 (GRCm39)	T300A	probably benign	Het
Ccdc88c	T	C	12: 100,907,466 (GRCm39)	T962A	possibly damaging	Het
Chd6	G	T	2: 160,825,598 (GRCm39)	L1169I	probably damaging	Het
Chrna7	A	T	7: 62,753,583 (GRCm39)	V312E	probably damaging	Het
Dna2	A	G	10: 62,796,191 (GRCm39)	N540S	probably benign	Het
Elavl2	T	C	4: 91,149,172 (GRCm39)	E209G	probably damaging	Het
Elmo2	A	G	2: 165,136,932 (GRCm39)		probably null	Het
Fto	A	T	8: 92,393,034 (GRCm39)	R494*	probably null	Het
Garre1	A	G	7: 33,938,526 (GRCm39)	M791T	possibly damaging	Het
Gm9966	A	T	7: 95,608,014 (GRCm39)	T112S	unknown	Het
Gtf3c1	A	C	7: 125,267,211 (GRCm39)	I940S	probably damaging	Het
Hecw2	C	A	1: 53,870,702 (GRCm39)	Q1426H	possibly damaging	Het
Iars2	A	C	1: 185,035,503 (GRCm39)	L579R	probably damaging	Het
Ifih1	A	C	2: 62,437,328 (GRCm39)	M537R	probably benign	Het
Kcnmb4	A	G	10: 116,282,367 (GRCm39)		probably benign	Het
Large2	A	G	2: 92,199,888 (GRCm39)	V175A	possibly damaging	Het
Mad2l1bp	A	G	17: 46,464,428 (GRCm39)		probably benign	Het
Myom2	A	G	8: 15,175,195 (GRCm39)	E1258G	probably benign	Het
Or8k28	A	T	2: 86,285,841 (GRCm39)	M258K	probably damaging	Het
Parp1	A	T	1: 180,426,516 (GRCm39)		probably null	Het
Pramel22	T	A	4: 143,381,889 (GRCm39)	E269V	possibly damaging	Het
Prkra	A	T	2: 76,473,653 (GRCm39)		probably null	Het
Ror2	C	T	13: 53,264,764 (GRCm39)	S764N	probably damaging	Het
Scd1	C	T	19: 44,388,746 (GRCm39)	G235S	probably benign	Het
Sdk1	A	G	5: 142,020,184 (GRCm39)	H654R	possibly damaging	Het
Sesn3	A	G	9: 14,231,633 (GRCm39)	Y188C	probably damaging	Het
Slc26a4	T	C	12: 31,585,666 (GRCm39)	M461V	probably damaging	Het
Slc28a2	A	G	2: 122,285,822 (GRCm39)	I439V	probably benign	Het
Smc5	T	A	19: 23,251,076 (GRCm39)	N36I	probably benign	Het
Smurf2	A	G	11: 106,713,504 (GRCm39)	F745S	probably damaging	Het
Spata22	A	G	11: 73,226,857 (GRCm39)	N65S	possibly damaging	Het
Tanc1	A	G	2: 59,673,934 (GRCm39)	T1680A	probably benign	Het
Tnxb	G	A	17: 34,891,249 (GRCm39)	V531M	probably damaging	Het
Trpm3	T	G	19: 22,879,433 (GRCm39)	Y727*	probably null	Het
Tssk1	A	T	16: 17,712,758 (GRCm39)	Y181F	probably damaging	Het
Ucp3	T	A	7: 100,129,766 (GRCm39)	V136E	probably damaging	Het
Uqcrfs1	A	C	13: 30,729,097 (GRCm39)	V45G	probably benign	Het
Uvrag	A	G	7: 98,748,649 (GRCm39)	I101T	probably benign	Het
Vmn1r206	A	T	13: 22,804,334 (GRCm39)	L291Q	probably damaging	Het
Wnk2	T	A	13: 49,210,381 (GRCm39)	I1813F	probably damaging	Het
Zbtb3	T	A	19: 8,780,579 (GRCm39)	V64E	probably damaging	Het
Zeb2	A	G	2: 44,878,886 (GRCm39)	I1115T	possibly damaging	Het
Zfp280b	C	T	10: 75,874,945 (GRCm39)	L275F	possibly damaging	Het

Other mutations in Muc20

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01953:Muc20	APN	16	32,614,073 (GRCm39)	missense	probably benign	0.10
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
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

Posted On

2014-05-07