Mutagenetix > Incidental Mutation

Incidental Mutation 'R5875:Muc20'

455499

Institutional Source

Beutler Lab

Gene Symbol

Muc20

Ensembl Gene

ENSMUSG00000035638

Gene Name

mucin 20

Synonyms

MMRRC Submission

044082-MU

Accession Numbers

Essential gene?

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

Stock #

R5875 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

32597793-32617805 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 32614189 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 396 (T396I)

Ref Sequence

ENSEMBL: ENSMUSP00000041221 (fasta)

Gene Model

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

AlphaFold

Q8BUE7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000041123
AA Change: T396I

PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000041221
Gene: ENSMUSG00000035638
AA Change: T396I

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: T396I

PolyPhen 2 Score 0.739 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000110769
Gene: ENSMUSG00000035638
AA Change: T396I

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

1x: 99.9%
3x: 99.4%
10x: 97.4%
20x: 91.9%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810024B03Rik	A	G	2: 127,028,737 (GRCm39)	V154A	possibly damaging	Het
Abcc1	A	G	16: 14,284,901 (GRCm39)	E1250G	possibly damaging	Het
Ajap1	A	C	4: 153,516,798 (GRCm39)	I181R	probably damaging	Het
Akap9	A	G	5: 4,127,285 (GRCm39)	Y3711C	probably benign	Het
Ark2c	T	C	18: 77,650,877 (GRCm39)		probably benign	Het
Arl1	T	C	10: 88,577,841 (GRCm39)	S137P	probably benign	Het
Atp6v0a2	G	A	5: 124,793,391 (GRCm39)	V583I	probably benign	Het
Cdca7	T	A	2: 72,313,901 (GRCm39)	M230K	probably benign	Het
Chd9	A	T	8: 91,778,464 (GRCm39)	D2841V	probably damaging	Het
Chp1	T	A	2: 119,402,296 (GRCm39)	F90Y	probably damaging	Het
Ckap5	A	G	2: 91,391,206 (GRCm39)	T345A	probably benign	Het
Clca4b	A	C	3: 144,628,650 (GRCm39)	S352R	probably benign	Het
Cmya5	A	G	13: 93,231,692 (GRCm39)	V1132A	probably benign	Het
Crb2	T	A	2: 37,677,266 (GRCm39)		probably null	Het
Crhbp	A	G	13: 95,580,304 (GRCm39)	F99L	probably benign	Het
Dnmt3l	A	T	10: 77,889,772 (GRCm39)	M210L	probably benign	Het
Dyrk2	T	A	10: 118,696,602 (GRCm39)	R219W	probably damaging	Het
Exosc1	A	G	19: 41,916,542 (GRCm39)	I78T	probably damaging	Het
Exosc9	T	C	3: 36,615,342 (GRCm39)		probably null	Het
Frmd5	A	G	2: 121,388,959 (GRCm39)		probably benign	Het
Gata2	T	C	6: 88,179,473 (GRCm39)	L315P	probably damaging	Het
Gm17067	G	A	7: 42,357,470 (GRCm39)	T344I	probably benign	Het
Gm4884	A	T	7: 40,692,360 (GRCm39)	T110S	possibly damaging	Het
Hapln3	T	C	7: 78,771,721 (GRCm39)	E56G	probably benign	Het
Helq	A	C	5: 100,944,336 (GRCm39)	I258S	probably damaging	Het
Hoxd10	T	C	2: 74,522,426 (GRCm39)	Y35H	possibly damaging	Het
Inpp5b	T	C	4: 124,674,199 (GRCm39)	V302A	possibly damaging	Het
Inpp5d	T	A	1: 87,645,696 (GRCm39)	I1027N	possibly damaging	Het
Ints2	T	C	11: 86,129,138 (GRCm39)	S482G	probably benign	Het
Itih1	C	T	14: 30,651,487 (GRCm39)	V902I	probably benign	Het
Jkampl	T	C	6: 73,446,028 (GRCm39)	I174V	possibly damaging	Het
Kctd16	T	A	18: 40,390,447 (GRCm39)		probably benign	Het
Kif27	T	C	13: 58,458,918 (GRCm39)	N971S	probably benign	Het
Klra17	T	C	6: 129,851,791 (GRCm39)	D27G	probably benign	Het
Leo1	G	C	9: 75,357,842 (GRCm39)	R412S	probably damaging	Het
Lonrf2	T	C	1: 38,846,128 (GRCm39)	N348S	probably benign	Het
Lpp	G	A	16: 24,427,059 (GRCm39)	G62E	probably benign	Het
Lyn	G	A	4: 3,745,631 (GRCm39)		probably null	Het
Macf1	T	A	4: 123,326,107 (GRCm39)	N5128I	possibly damaging	Het
Mapk7	T	A	11: 61,384,524 (GRCm39)	I61L	probably benign	Het
Mindy1	T	C	3: 95,202,125 (GRCm39)	V334A	probably damaging	Het
Myo5b	A	T	18: 74,840,973 (GRCm39)		probably null	Het
Noc4l	A	C	5: 110,799,176 (GRCm39)		probably null	Het
Oas1c	A	G	5: 120,943,627 (GRCm39)	Y171H	probably damaging	Het
Pclo	A	T	5: 14,730,614 (GRCm39)		probably benign	Het
Pmpcb	G	A	5: 21,947,944 (GRCm39)	E216K	probably benign	Het
Pskh1	G	A	8: 106,639,731 (GRCm39)	R137Q	possibly damaging	Het
Ptprb	T	G	10: 116,184,071 (GRCm39)	W1628G	probably benign	Het
Ranbp3	T	A	17: 57,014,955 (GRCm39)		probably null	Het
Sart1	T	C	19: 5,433,823 (GRCm39)	D338G	probably damaging	Het
Scn8a	T	A	15: 100,870,703 (GRCm39)	Y251*	probably null	Het
Sdk2	G	T	11: 113,720,885 (GRCm39)	T1348K	probably benign	Het
Sec16a	A	G	2: 26,323,379 (GRCm39)	Y1272H	probably damaging	Het
Slc26a1	A	T	5: 108,819,903 (GRCm39)	L432Q	probably damaging	Het
Susd1	A	T	4: 59,412,203 (GRCm39)	F117I	possibly damaging	Het
Taf5	A	T	19: 47,064,549 (GRCm39)	Y465F	probably damaging	Het
Tcstv1a	T	A	13: 120,355,630 (GRCm39)	M1L	probably benign	Het
Tectb	A	G	19: 55,178,058 (GRCm39)	D193G	possibly damaging	Het
Tex56	T	G	13: 35,116,429 (GRCm39)	C59W	probably damaging	Het
Tirap	G	A	9: 35,100,465 (GRCm39)	P73L	probably damaging	Het
Tm6sf2	A	G	8: 70,528,039 (GRCm39)	D86G	possibly damaging	Het
Tmem161b	A	T	13: 84,442,977 (GRCm39)	H481L	probably damaging	Het
Tnrc6c	G	A	11: 117,650,534 (GRCm39)	V1763I	probably damaging	Het
Ubxn1	T	C	19: 8,849,584 (GRCm39)	S75P	probably benign	Het
Uhrf2	A	G	19: 30,066,702 (GRCm39)	K709E	probably damaging	Het
Vmn2r101	T	A	17: 19,809,092 (GRCm39)	Y74N	probably damaging	Het
Xirp2	A	G	2: 67,335,424 (GRCm39)	E81G	probably benign	Het
Zbtb45	A	G	7: 12,742,237 (GRCm39)	V7A	possibly damaging	Het
Zfp668	C	A	7: 127,465,474 (GRCm39)	R570L	possibly damaging	Het
Zmiz1	T	A	14: 25,636,390 (GRCm39)	M125K	possibly damaging	Het
Zmiz2	T	C	11: 6,355,072 (GRCm39)	L913P	probably 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
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
R5195:Muc20	UTSW	16	32,614,846 (GRCm39)	missense	unknown
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'- GTTCCAACAGAGGTAAGAGTCTG -3'
(R):5'- AGCAGCTCTTCCTCTGACAG -3'

Sequencing Primer
(F):5'- TAAGAGTCTGGGCCACTGCTG -3'
(R):5'- AGTTCAGCTGGGGTCCTCAG -3'

Posted On

2017-02-10