Mutagenetix > Incidental Mutation

Incidental Mutation 'R0098:Muc19'

16355

Institutional Source

Beutler Lab

Gene Symbol

Muc19

Ensembl Gene

ENSMUSG00000044021

Gene Name

mucin 19

Synonyms

sld, apomucin

MMRRC Submission

038384-MU

Accession Numbers

Essential gene?

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

Stock #

R0098 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

91722531-91832440 bp(+) (GRCm39)

Type of Mutation

exon

DNA Base Change (assembly)

C to T at 91777101 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

Coding Region Coverage

1x: 90.4%
3x: 88.1%
10x: 82.9%
20x: 75.6%

Validation Efficiency

93% (78/84)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310061I04Rik	A	T	17: 36,207,309 (GRCm39)		probably benign	Het
Acad9	T	C	3: 36,127,689 (GRCm39)	I97T	probably damaging	Het
Adam32	T	A	8: 25,404,405 (GRCm39)	Y200F	possibly damaging	Het
Adcy4	T	C	14: 56,007,284 (GRCm39)	N976S	possibly damaging	Het
Adgrb2	C	G	4: 129,901,624 (GRCm39)	P416R	probably damaging	Het
Alpk2	A	G	18: 65,482,982 (GRCm39)	L342S	probably damaging	Het
Ambra1	T	A	2: 91,598,056 (GRCm39)	H72Q	possibly damaging	Het
Ankrd10	T	C	8: 11,662,560 (GRCm39)	H391R	probably benign	Het
Arfgef3	A	G	10: 18,465,390 (GRCm39)	V2151A	probably damaging	Het
Atm	T	C	9: 53,429,869 (GRCm39)	D389G	probably benign	Het
Atp10b	A	T	11: 43,080,431 (GRCm39)	S236C	probably benign	Het
B3gat1	C	T	9: 26,668,237 (GRCm39)	R276C	probably damaging	Het
Bcl9l	C	T	9: 44,416,914 (GRCm39)	P251S	probably benign	Het
Cdhr5	C	A	7: 140,849,781 (GRCm39)	G331W	probably damaging	Het
Cmklr1	T	C	5: 113,752,531 (GRCm39)	T157A	probably benign	Het
Cndp1	T	A	18: 84,646,949 (GRCm39)	E246D	probably damaging	Het
Cntn4	A	G	6: 106,595,385 (GRCm39)		probably benign	Het
Crebbp	A	G	16: 3,909,792 (GRCm39)	L1078P	probably damaging	Het
Cyp20a1	G	T	1: 60,426,413 (GRCm39)	E452*	probably null	Het
Emb	T	C	13: 117,404,034 (GRCm39)	V262A	probably damaging	Het
Ephb1	C	T	9: 101,918,339 (GRCm39)	R390H	probably damaging	Het
Faf1	T	C	4: 109,792,696 (GRCm39)	L556S	probably damaging	Het
Fat2	T	C	11: 55,189,431 (GRCm39)	T1196A	probably damaging	Het
Fbf1	A	T	11: 116,038,945 (GRCm39)		probably null	Het
Gid8	T	A	2: 180,356,528 (GRCm39)	I55N	possibly damaging	Het
Hexa	T	C	9: 59,465,383 (GRCm39)	Y213H	probably damaging	Het
Igf2bp1	T	C	11: 95,863,989 (GRCm39)	K234E	probably damaging	Het
Ighv1-58	C	T	12: 115,275,919 (GRCm39)	G73E	probably benign	Het
Kalrn	A	T	16: 33,795,989 (GRCm39)	I1262K	possibly damaging	Het
Lrp1	C	T	10: 127,388,607 (GRCm39)	V3281I	probably benign	Het
Lrp2	T	C	2: 69,305,756 (GRCm39)	D2935G	probably damaging	Het
Lypd6	T	A	2: 50,080,792 (GRCm39)	V160E	probably benign	Het
Nrxn3	A	G	12: 89,226,971 (GRCm39)	D202G	probably damaging	Het
Nxn	A	T	11: 76,169,420 (GRCm39)		probably benign	Het
Or5b107	T	A	19: 13,143,026 (GRCm39)	I216K	probably benign	Het
Palld	C	A	8: 61,978,120 (GRCm39)	G890V	probably damaging	Het
Pcx	C	A	19: 4,651,775 (GRCm39)		probably benign	Het
Pik3c2g	T	C	6: 139,639,441 (GRCm39)	S416P	unknown	Het
Ppa2	C	T	3: 133,076,234 (GRCm39)		probably benign	Het
Ppp1r18	A	G	17: 36,178,888 (GRCm39)	I254M	probably benign	Het
Prune2	A	G	19: 17,101,267 (GRCm39)	E2257G	possibly damaging	Het
Rd3	A	G	1: 191,717,261 (GRCm39)	M244V	probably benign	Het
Rfx5	T	A	3: 94,865,679 (GRCm39)	V326E	probably damaging	Het
Rgs3	G	C	4: 62,544,143 (GRCm39)	R305P	probably damaging	Het
Rpp40	A	G	13: 36,082,970 (GRCm39)	Y173H	probably benign	Het
Ryr3	T	C	2: 112,731,376 (GRCm39)	N645D	probably damaging	Het
Sema3e	T	C	5: 14,302,446 (GRCm39)	V657A	possibly damaging	Het
Serpina3n	T	A	12: 104,379,777 (GRCm39)	V390E	probably damaging	Het
Shank1	A	G	7: 43,962,709 (GRCm39)	Y141C	unknown	Het
Smg1	A	T	7: 117,744,690 (GRCm39)	M3154K	probably benign	Het
Tdrd12	A	G	7: 35,175,418 (GRCm39)	L996P	probably damaging	Het
Tfrc	G	T	16: 32,442,244 (GRCm39)	V490F	probably damaging	Het
Tie1	T	C	4: 118,343,784 (GRCm39)	S53G	probably benign	Het
Topaz1	T	C	9: 122,619,188 (GRCm39)	Y1262H	possibly damaging	Het
Ttc3	A	T	16: 94,191,124 (GRCm39)	H222L	probably benign	Het
Ubxn8	T	C	8: 34,125,393 (GRCm39)		probably benign	Het
Unk	A	G	11: 115,940,995 (GRCm39)	Y252C	probably damaging	Het
Vwc2l	A	G	1: 70,768,290 (GRCm39)	Y71C	probably damaging	Het
Zfp386	T	A	12: 116,022,834 (GRCm39)	L184*	probably null	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
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
R4869:Muc19	UTSW	15	91,781,910 (GRCm39)	exon	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

Posted On

2013-01-20