Mutagenetix > Incidental Mutation

Incidental Mutation 'R4869:Muc19'

376454

Institutional Source

Beutler Lab

Gene Symbol

Muc19

Ensembl Gene

ENSMUSG00000044021

Gene Name

mucin 19

Synonyms

sld, apomucin

MMRRC Submission

042479-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.182) question?

Stock #

R4869 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

91722531-91832440 bp(+) (GRCm39)

Type of Mutation

exon

DNA Base Change (assembly)

A to T at 91781910 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s):

AlphaFold

no structure available at present

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160242

SMART Domains

Protein: ENSMUSP00000125205
Gene: ENSMUSG00000044021

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
low complexity region	21	34	N/A	INTRINSIC
VWD	47	198	1.31e-13	SMART
Pfam:C8	221	293	1.1e-8	PFAM
Pfam:TIL	298	353	1.6e-11	PFAM
VWD	383	545	1.58e-25	SMART
C8	577	651	8.71e-20	SMART
Pfam:TIL	654	711	2.1e-7	PFAM
Pfam:TIL	753	813	5.2e-8	PFAM
VWD	842	1005	2.36e-47	SMART
C8	1041	1115	1.84e-27	SMART
low complexity region	1220	1254	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000178108

SMART Domains

Protein: ENSMUSP00000136475
Gene: ENSMUSG00000044021

Domain	Start	End	E-Value	Type
low complexity region	4	17	N/A	INTRINSIC
VWD	30	181	1.31e-13	SMART
Pfam:C8	200	277	2.5e-8	PFAM
Pfam:TIL	281	336	7.5e-12	PFAM
Pfam:VWD	377	477	4.1e-8	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180042

SMART Domains

Protein: ENSMUSP00000136207
Gene: ENSMUSG00000044021

Domain	Start	End	E-Value	Type
C8	17	91	8.71e-20	SMART
Pfam:TIL	94	151	1.2e-7	PFAM
Pfam:TIL	193	253	6.6e-8	PFAM
VWD	282	445	2.36e-47	SMART
C8	481	555	1.84e-27	SMART
low complexity region	660	701	N/A	INTRINSIC

Meta Mutation Damage Score

0.0869

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.3%

Validation Efficiency

99% (102/103)

MGI Phenotype

PHENOTYPE: Mice homozygous for this spontaneous mutation show a partially arrested mucous cell differentiation of the sublingual glands. Severe inflammatory lesions resembling Sjogren's syndrome develop spontaneously in salivary and lacrimal glands of neonatally thymectomized mutants without any immunization. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	C	A	9: 57,161,488 (GRCm39)	K943N	probably damaging	Het
Abca13	G	A	11: 9,265,434 (GRCm39)		probably null	Het
Ankub1	A	G	3: 57,597,751 (GRCm39)	L73P	probably damaging	Het
Birc6	A	G	17: 74,893,007 (GRCm39)	I982V	probably benign	Het
Cabyr	G	T	18: 12,884,875 (GRCm39)	*454L	probably null	Het
Ccdc57	C	T	11: 120,794,344 (GRCm39)		probably null	Het
Cd209c	A	G	8: 3,994,077 (GRCm39)	F128L	probably benign	Het
Cdh23	A	T	10: 60,212,713 (GRCm39)	I1566N	probably damaging	Het
Cdon	T	C	9: 35,364,200 (GRCm39)	V106A	possibly damaging	Het
Cebpa	G	T	7: 34,819,246 (GRCm39)	G135C	probably damaging	Het
Cfap65	A	G	1: 74,958,420 (GRCm39)	S896P	probably benign	Het
Ciz1	T	C	2: 32,254,247 (GRCm39)	S63P	probably damaging	Het
Clybl	G	A	14: 122,621,618 (GRCm39)	V269M	probably damaging	Het
Ctnnb1	G	T	9: 120,782,060 (GRCm39)	V358L	possibly damaging	Het
Cwh43	G	T	5: 73,586,016 (GRCm39)		probably null	Het
Cyp2d10	G	A	15: 82,287,967 (GRCm39)	R379C	probably benign	Het
Dab2ip	C	A	2: 35,610,049 (GRCm39)	R727S	probably damaging	Het
Dmrt1	T	A	19: 25,483,219 (GRCm39)	M1K	probably null	Het
Dock1	A	T	7: 134,335,800 (GRCm39)	I65F	probably damaging	Het
Ercc2	T	C	7: 19,120,732 (GRCm39)	V155A	probably damaging	Het
Exph5	A	C	9: 53,287,539 (GRCm39)	D1540A	possibly damaging	Het
Fat3	T	A	9: 16,288,773 (GRCm39)	H250L	probably damaging	Het
Fbxw10	C	A	11: 62,753,557 (GRCm39)	A517E	probably damaging	Het
Furin	A	T	7: 80,046,727 (GRCm39)	N176K	probably damaging	Het
Gabrb3	A	G	7: 57,442,207 (GRCm39)		probably benign	Het
Gabrg2	A	T	11: 41,811,231 (GRCm39)	S305T	probably damaging	Het
Gas6	G	T	8: 13,525,086 (GRCm39)	S299R	possibly damaging	Het
Gga3	G	T	11: 115,477,111 (GRCm39)		probably benign	Het
Gle1	A	G	2: 29,826,032 (GRCm39)	E37G	possibly damaging	Het
Gm7964	A	G	7: 83,405,350 (GRCm39)	D80G	possibly damaging	Het
Gne	C	T	4: 44,055,204 (GRCm39)		probably null	Het
Grid2	G	T	6: 64,406,724 (GRCm39)	G695W	probably damaging	Het
H2-M10.6	A	T	17: 37,123,425 (GRCm39)	M40L	probably benign	Het
Hectd4	G	T	5: 121,460,735 (GRCm39)	V905L	possibly damaging	Het
Isyna1	C	A	8: 71,049,412 (GRCm39)	S441R	possibly damaging	Het
Kcnh3	C	T	15: 99,139,913 (GRCm39)	S933L	probably benign	Het
Knl1	T	C	2: 118,902,832 (GRCm39)	I1511T	possibly damaging	Het
Krt73	T	C	15: 101,704,833 (GRCm39)	E351G	probably damaging	Het
Lipo4	C	T	19: 33,478,953 (GRCm39)		probably null	Het
Llgl1	T	A	11: 60,598,036 (GRCm39)	L360*	probably null	Het
Map2k5	G	A	9: 63,229,525 (GRCm39)	R169*	probably null	Het
Muc4	G	A	16: 32,754,836 (GRCm38)		probably benign	Het
Myh4	A	G	11: 67,143,490 (GRCm39)	E1074G	probably damaging	Het
Naip5	C	T	13: 100,381,639 (GRCm39)	G210E	probably damaging	Het
Nalcn	A	G	14: 123,837,296 (GRCm39)	S23P	probably benign	Het
Nepro	T	A	16: 44,550,536 (GRCm39)	M176K	probably damaging	Het
Nlrp6	G	A	7: 140,504,006 (GRCm39)	C704Y	probably damaging	Het
Notch1	A	G	2: 26,361,191 (GRCm39)	S1100P	probably benign	Het
Nrxn3	A	G	12: 88,762,352 (GRCm39)	E133G	possibly damaging	Het
Obi1	A	G	14: 104,716,252 (GRCm39)	I707T	probably damaging	Het
Parp9	T	C	16: 35,777,274 (GRCm39)	L406S	probably damaging	Het
Peak1	G	T	9: 56,134,876 (GRCm39)	A155D	probably benign	Het
Piezo1	G	A	8: 123,214,284 (GRCm39)	H1628Y	probably benign	Het
Piwil2	A	G	14: 70,632,811 (GRCm39)	V587A	probably benign	Het
Pkn2	A	G	3: 142,509,379 (GRCm39)	Y722H	probably damaging	Het
Plch2	A	T	4: 155,073,885 (GRCm39)	I834K	probably benign	Het
Pld1	A	G	3: 28,163,951 (GRCm39)	T795A	possibly damaging	Het
Plekhh1	A	G	12: 79,097,160 (GRCm39)	S103G	probably benign	Het
Ppl	T	C	16: 4,922,753 (GRCm39)	Y246C	probably damaging	Het
Prpf40b	G	A	15: 99,207,726 (GRCm39)		probably benign	Het
Prr14l	A	G	5: 32,986,177 (GRCm39)	L1106P	probably damaging	Het
Ptbp3	T	A	4: 59,524,443 (GRCm39)	I28F	possibly damaging	Het
Ptrh2	A	T	11: 86,580,631 (GRCm39)	K83*	probably null	Het
Rai1	T	C	11: 60,077,588 (GRCm39)	S551P	probably damaging	Het
Rapgefl1	A	T	11: 98,741,935 (GRCm39)	Q633L	probably damaging	Het
Rb1cc1	T	C	1: 6,285,245 (GRCm39)		probably benign	Het
Rif1	T	A	2: 51,983,623 (GRCm39)		probably benign	Het
Rnf141	A	G	7: 110,424,557 (GRCm39)	Y101H	probably damaging	Het
Rttn	T	A	18: 89,061,138 (GRCm39)	L1102*	probably null	Het
Sall4	G	A	2: 168,597,637 (GRCm39)	S401F	probably damaging	Het
Saxo5	G	A	8: 3,537,148 (GRCm39)	S498N	probably damaging	Het
Sec11c	T	C	18: 65,934,541 (GRCm39)	I36T	probably benign	Het
Sel1l	A	G	12: 91,780,828 (GRCm39)		probably benign	Het
Setd1a	T	C	7: 127,396,776 (GRCm39)		probably benign	Het
Sez6l2	C	T	7: 126,561,014 (GRCm39)	P433L	probably benign	Het
Sgf29	T	C	7: 126,248,547 (GRCm39)		probably benign	Het
Slc47a1	A	G	11: 61,253,520 (GRCm39)	V305A	probably benign	Het
Slco1a8	T	C	6: 141,933,492 (GRCm39)	D431G	probably damaging	Het
Sun2	T	C	15: 79,612,587 (GRCm39)		probably benign	Het
Tecta	T	C	9: 42,286,830 (GRCm39)	S609G	probably benign	Het
Tmprss6	T	A	15: 78,327,880 (GRCm39)		probably null	Het
Tns1	T	C	1: 73,991,774 (GRCm39)	H968R	probably benign	Het
Tomm34	G	A	2: 163,896,637 (GRCm39)	A270V	probably damaging	Het
Tpo	T	C	12: 30,153,364 (GRCm39)	K330R	probably benign	Het
Ttn	T	A	2: 76,542,837 (GRCm39)	Y33383F	probably damaging	Het
Unc13c	G	T	9: 73,587,716 (GRCm39)	A1439D	probably benign	Het
Vcp	C	T	4: 42,993,691 (GRCm39)	R147H	probably benign	Het
Vps13d	A	G	4: 144,854,612 (GRCm39)	L2272P	probably damaging	Het
Wdfy3	A	G	5: 102,042,787 (GRCm39)	L1988P	probably damaging	Het
Wwc2	A	G	8: 48,373,713 (GRCm39)	F51S	probably damaging	Het
Zfp454	C	T	11: 50,763,980 (GRCm39)	C373Y	probably damaging	Het
Zfp853	A	T	5: 143,274,048 (GRCm39)	V473E	probably damaging	Het
Zfp959	A	T	17: 56,204,228 (GRCm39)	R85S	possibly damaging	Het

Other mutations in Muc19

Allele	Source	Chr	Coord	Type	Predicted Effect
IGL00985:Muc19	APN	15	91,770,943 (GRCm39)	exon	noncoding transcript
IGL01017:Muc19	APN	15	91,764,901 (GRCm39)	exon	noncoding transcript
IGL01140:Muc19	APN	15	91,783,593 (GRCm39)	exon	noncoding transcript
IGL01292:Muc19	APN	15	91,778,470 (GRCm39)	exon	noncoding transcript
IGL01397:Muc19	APN	15	91,778,498 (GRCm39)	exon	noncoding transcript
IGL01525:Muc19	APN	15	91,770,877 (GRCm39)	exon	noncoding transcript
IGL01589:Muc19	APN	15	91,754,699 (GRCm39)	exon	noncoding transcript
IGL02023:Muc19	APN	15	91,772,453 (GRCm39)	exon	noncoding transcript
IGL02088:Muc19	APN	15	91,775,362 (GRCm39)	splice site	noncoding transcript
IGL02168:Muc19	APN	15	91,778,292 (GRCm39)	exon	noncoding transcript
IGL02343:Muc19	APN	15	91,778,428 (GRCm39)	exon	noncoding transcript
IGL02402:Muc19	APN	15	91,778,192 (GRCm39)	splice site	noncoding transcript
IGL02433:Muc19	APN	15	91,756,694 (GRCm39)	exon	noncoding transcript
IGL02533:Muc19	APN	15	91,782,241 (GRCm39)	exon	noncoding transcript
IGL02558:Muc19	APN	15	91,781,816 (GRCm39)	exon	noncoding transcript
IGL02652:Muc19	APN	15	91,762,009 (GRCm39)	critical splice donor site	noncoding transcript
IGL03032:Muc19	APN	15	91,808,424 (GRCm39)	unclassified	noncoding transcript
IGL02837:Muc19	UTSW	15	91,766,850 (GRCm39)	exon	noncoding transcript
R0098:Muc19	UTSW	15	91,777,101 (GRCm39)	exon	noncoding transcript
R0098:Muc19	UTSW	15	91,777,101 (GRCm39)	exon	noncoding transcript
R0208:Muc19	UTSW	15	91,777,218 (GRCm39)	splice site	noncoding transcript
R0597:Muc19	UTSW	15	91,784,696 (GRCm39)	splice site	noncoding transcript
R1185:Muc19	UTSW	15	91,762,743 (GRCm39)	exon	noncoding transcript
R1185:Muc19	UTSW	15	91,762,743 (GRCm39)	exon	noncoding transcript
R1469:Muc19	UTSW	15	91,758,498 (GRCm39)	unclassified	noncoding transcript
R1942:Muc19	UTSW	15	91,776,666 (GRCm39)	exon	noncoding transcript
R2035:Muc19	UTSW	15	91,776,599 (GRCm39)	splice site	noncoding transcript
R2208:Muc19	UTSW	15	91,755,747 (GRCm39)	exon	noncoding transcript
R2877:Muc19	UTSW	15	91,777,200 (GRCm39)	exon	noncoding transcript
R2897:Muc19	UTSW	15	91,822,550 (GRCm39)	critical splice donor site	noncoding transcript
R4110:Muc19	UTSW	15	91,781,816 (GRCm39)	exon	noncoding transcript
R4403:Muc19	UTSW	15	91,755,768 (GRCm39)	exon	noncoding transcript
R4606:Muc19	UTSW	15	91,832,268 (GRCm39)	exon	noncoding transcript
R4677:Muc19	UTSW	15	91,772,411 (GRCm39)	exon	noncoding transcript
R4753:Muc19	UTSW	15	91,761,955 (GRCm39)	unclassified	noncoding transcript
R4781:Muc19	UTSW	15	91,787,360 (GRCm39)	critical splice donor site	noncoding transcript
R5000:Muc19	UTSW	15	91,757,429 (GRCm39)	unclassified	noncoding transcript
R5044:Muc19	UTSW	15	91,772,332 (GRCm39)	exon	noncoding transcript
R5156:Muc19	UTSW	15	91,784,614 (GRCm39)	exon	noncoding transcript
R5176:Muc19	UTSW	15	91,776,374 (GRCm39)	exon	noncoding transcript
R5224:Muc19	UTSW	15	91,825,910 (GRCm39)	exon	noncoding transcript
R5524:Muc19	UTSW	15	91,778,587 (GRCm39)	exon	noncoding transcript
R5568:Muc19	UTSW	15	91,768,468 (GRCm39)	splice site	noncoding transcript
R5592:Muc19	UTSW	15	91,828,199 (GRCm39)	exon	noncoding transcript

Predicted Primers

PCR Primer
(F):5'- CACAGAACAAAGTGTGTGGTC -3'
(R):5'- TGAGCAGTCATGTCCAGAGC -3'

Sequencing Primer
(F):5'- CTTTGTGGAAACAACAATGGTGACC -3'
(R):5'- CAGTCATGTCCAGAGCAGTGTG -3'

Posted On

2016-03-17