Mutagenetix > Incidental Mutation

Incidental Mutation 'R9017:Muc20'

686098

Institutional Source

Beutler Lab

Gene Symbol

Muc20

Ensembl Gene

ENSMUSG00000035638

Gene Name

mucin 20

Synonyms

MMRRC Submission

068847-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R9017 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

32597793-32617805 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 32614840 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 179 (L179Q)

Ref Sequence

ENSEMBL: ENSMUSP00000110769 (fasta)

Gene Model

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

AlphaFold

Q8BUE7

Predicted Effect

unknown
Transcript: ENSMUST00000041123
AA Change: L179Q

SMART Domains

Protein: ENSMUSP00000041221
Gene: ENSMUSG00000035638
AA Change: L179Q

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: L179Q

SMART Domains

Protein: ENSMUSP00000110769
Gene: ENSMUSG00000035638
AA Change: L179Q

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: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

100% (65/65)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg7	T	C	16: 56,553,211 (GRCm39)	T629A	probably benign	Het
Afg3l2	A	G	18: 67,542,550 (GRCm39)	V632A	possibly damaging	Het
Ahnak	G	A	19: 8,987,487 (GRCm39)	E2924K	probably damaging	Het
Ampd1	A	G	3: 102,995,786 (GRCm39)	Y232C	probably benign	Het
Ank1	G	A	8: 23,606,264 (GRCm39)	G1219S	probably null	Het
Atp8b4	A	T	2: 126,275,841 (GRCm39)	N130K	probably benign	Het
Cdh15	T	C	8: 123,584,256 (GRCm39)		probably null	Het
Cep70	T	C	9: 99,181,829 (GRCm39)	I613T	possibly damaging	Het
Cfap54	C	T	10: 92,651,883 (GRCm39)	V3056I	probably benign	Het
Chrna2	T	C	14: 66,386,282 (GRCm39)	F143L	probably benign	Het
Cmya5	C	T	13: 93,228,572 (GRCm39)	R2172H	probably benign	Het
Col17a1	T	C	19: 47,657,898 (GRCm39)	E424G	probably benign	Het
Crybg1	T	C	10: 43,880,477 (GRCm39)	E237G	probably benign	Het
Ctnnd2	G	A	15: 30,881,316 (GRCm39)	C732Y	probably damaging	Het
Dcaf12	T	C	4: 41,299,411 (GRCm39)	N264S	probably benign	Het
Dennd4c	A	G	4: 86,743,349 (GRCm39)	S1064G	probably benign	Het
Dsc2	A	T	18: 20,176,968 (GRCm39)	Y360N	probably damaging	Het
E2f3	T	G	13: 30,097,478 (GRCm39)	D295A	probably damaging	Het
Eef2	T	C	10: 81,015,487 (GRCm39)	L336P	possibly damaging	Het
Fanca	A	G	8: 124,035,307 (GRCm39)	S213P	possibly damaging	Het
Fpgt	A	T	3: 154,792,903 (GRCm39)	S375T	probably benign	Het
Gad1	G	A	2: 70,416,206 (GRCm39)	V222I	probably benign	Het
Gm5930	A	T	14: 44,568,858 (GRCm39)	Y255N	possibly damaging	Het
Gpr55	T	C	1: 85,868,624 (GRCm39)	N319S	probably benign	Het
Grik2	T	A	10: 48,989,555 (GRCm39)	I825F	possibly damaging	Het
Hcn4	T	C	9: 58,731,482 (GRCm39)	S230P	unknown	Het
Kansl3	T	C	1: 36,393,861 (GRCm39)	I222V	probably benign	Het
Kif20b	T	C	19: 34,927,203 (GRCm39)	S822P	probably benign	Het
Kremen2	T	A	17: 23,964,737 (GRCm39)		probably benign	Het
Krt71	G	T	15: 101,651,100 (GRCm39)	R128S	possibly damaging	Het
Lrp4	A	T	2: 91,324,397 (GRCm39)	N1244I	possibly damaging	Het
Lrrc66	T	C	5: 73,765,244 (GRCm39)	S600G	possibly damaging	Het
Mrc2	T	A	11: 105,216,711 (GRCm39)	C167S	probably damaging	Het
Mrps17	T	C	5: 129,793,857 (GRCm39)	V17A	probably damaging	Het
Or13g1	A	T	7: 85,955,957 (GRCm39)	Y121*	probably null	Het
Or13p8	T	A	4: 118,583,565 (GRCm39)	F40L	probably benign	Het
Or4c29	G	T	2: 88,739,951 (GRCm39)	T262K	probably damaging	Het
Otop2	T	C	11: 115,214,431 (GRCm39)	F63L	probably benign	Het
Pde3b	C	T	7: 114,015,695 (GRCm39)	Q304*	probably null	Het
Pex19	GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC	GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC	1: 171,956,150 (GRCm39)		probably null	Het
Plekhg4	A	G	8: 106,105,332 (GRCm39)	E599G	possibly damaging	Het
Ppargc1a	C	A	5: 51,630,251 (GRCm39)	R622L	unknown	Het
Ppip5k2	A	G	1: 97,655,139 (GRCm39)	L879P	probably damaging	Het
Prepl	C	T	17: 85,376,366 (GRCm39)	V563M	possibly damaging	Het
Prom1	G	T	5: 44,204,870 (GRCm39)	D201E	probably damaging	Het
Psmd1	T	A	1: 86,054,231 (GRCm39)	D723E	probably damaging	Het
Sall2	A	T	14: 52,550,719 (GRCm39)	N825K	possibly damaging	Het
Sds	A	T	5: 120,618,655 (GRCm39)	M70L	probably benign	Het
Sema4c	C	T	1: 36,592,079 (GRCm39)	R256H	probably damaging	Het
Sik1	T	C	17: 32,070,545 (GRCm39)	Y100C	probably damaging	Het
Slc13a5	T	A	11: 72,138,588 (GRCm39)	I452F	probably damaging	Het
Slc25a24	A	G	3: 109,062,395 (GRCm39)	I162V	possibly damaging	Het
Sorbs2	T	G	8: 46,248,774 (GRCm39)	V675G	probably benign	Het
Tenm3	T	A	8: 48,707,668 (GRCm39)	N1710I	probably damaging	Het
Tmem115	T	A	9: 107,411,880 (GRCm39)	M68K	probably benign	Het
Tmem132d	T	C	5: 127,866,936 (GRCm39)	I655V	probably benign	Het
Tmem132d	T	C	5: 128,346,316 (GRCm39)	I69V	probably benign	Het
Tnfrsf11a	G	A	1: 105,754,854 (GRCm39)	A309T	possibly damaging	Het
Trim9	A	G	12: 70,314,013 (GRCm39)	M544T	probably benign	Het
Ttll3	G	A	6: 113,389,850 (GRCm39)	R745H	probably benign	Het
Ttn	G	T	2: 76,737,931 (GRCm39)	L4249I	unknown	Het
Unc79	G	A	12: 103,074,874 (GRCm39)		probably null	Het
Vmn1r196	T	C	13: 22,478,254 (GRCm39)	C298R	probably benign	Het
Vmn1r216	A	G	13: 23,284,081 (GRCm39)	I255V	probably benign	Het
Zfp853	A	G	5: 143,274,243 (GRCm39)	L474P	unknown	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
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
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'- GGTCTCCGTTACAGTGGAAATGG -3'
(R):5'- TGCAGCATCATCCCTAGAGG -3'

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

Posted On

2021-10-11