Mutagenetix > Incidental Mutation

Incidental Mutation 'R2035:Muc19'

224543

Institutional Source

Beutler Lab

Gene Symbol

Muc19

Ensembl Gene

ENSMUSG00000044021

Gene Name

mucin 19

Synonyms

sld, apomucin

MMRRC Submission

040042-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.166) question?

Stock #

R2035 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

91722531-91832440 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 91776599 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: 99.2%
3x: 98.5%
10x: 96.9%
20x: 93.9%

Validation Efficiency

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	C	13: 77,760,761 (GRCm39)	*1273Q	probably null	Het
Aars2	A	G	17: 45,825,727 (GRCm39)	I348V	possibly damaging	Het
Abca8b	G	A	11: 109,847,932 (GRCm39)	R788C	possibly damaging	Het
Abhd15	T	C	11: 77,406,536 (GRCm39)	L171P	probably damaging	Het
Abi3bp	A	T	16: 56,480,581 (GRCm39)	H686L	probably benign	Het
Acsl1	A	G	8: 46,981,621 (GRCm39)	Y456C	probably damaging	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Ash1l	T	A	3: 88,973,624 (GRCm39)	V2561D	probably benign	Het
B3galnt2	T	A	13: 14,140,909 (GRCm39)	F44I	probably benign	Het
Bicra	A	T	7: 15,730,338 (GRCm39)	H24Q	possibly damaging	Het
Ccdc163	T	C	4: 116,568,530 (GRCm39)	S195P	probably damaging	Het
Cd163	A	T	6: 124,297,588 (GRCm39)	K911N	probably damaging	Het
Clcn3	A	T	8: 61,387,632 (GRCm39)	S179T	probably damaging	Het
Dctn4	T	A	18: 60,671,489 (GRCm39)	D120E	possibly damaging	Het
Dnali1	C	T	4: 124,952,903 (GRCm39)	V207M	probably damaging	Het
Dnhd1	A	G	7: 105,354,128 (GRCm39)	Q3036R	probably damaging	Het
Dst	G	A	1: 34,310,494 (GRCm39)	R4098H	probably damaging	Het
Eml5	A	T	12: 98,760,525 (GRCm39)	N1741K	probably benign	Het
Enah	G	A	1: 181,749,537 (GRCm39)	P415L	probably damaging	Het
Entr1	T	A	2: 26,273,639 (GRCm39)	S374C	probably damaging	Het
Ess2	A	G	16: 17,727,950 (GRCm39)		probably null	Het
F8	ATCTCTCTC	ATCTCTC	X: 74,366,604 (GRCm39)		probably null	Het
Gm4841	T	G	18: 60,402,929 (GRCm39)	Y388S	probably benign	Het
Grin3a	T	C	4: 49,771,336 (GRCm39)	T479A	probably damaging	Het
Gucy2e	C	A	11: 69,118,358 (GRCm39)	V743L	probably benign	Het
Il33	T	A	19: 29,932,037 (GRCm39)	N143K	probably damaging	Het
Ism1	T	A	2: 139,599,075 (GRCm39)	S349R	probably damaging	Het
Itgb2	T	A	10: 77,383,033 (GRCm39)	D134E	probably damaging	Het
Kcnk1	A	C	8: 126,752,108 (GRCm39)	N238T	possibly damaging	Het
Kcnu1	G	T	8: 26,386,721 (GRCm39)	V535L	probably benign	Het
Mycbp2	A	T	14: 103,497,675 (GRCm39)	Y966N	probably damaging	Het
Myo19	A	T	11: 84,788,434 (GRCm39)	M349L	probably benign	Het
Narf	G	A	11: 121,129,326 (GRCm39)	A37T	probably benign	Het
Ncapd2	T	C	6: 125,161,491 (GRCm39)	N208D	probably benign	Het
Nr1i2	A	G	16: 38,071,488 (GRCm39)		probably null	Het
Opn5	A	G	17: 42,918,052 (GRCm39)	I70T	probably damaging	Het
Or52e19	T	A	7: 102,959,463 (GRCm39)	H178Q	probably damaging	Het
Or7a38	T	C	10: 78,753,421 (GRCm39)	V249A	possibly damaging	Het
Pkn2	G	T	3: 142,526,348 (GRCm39)	P410T	probably damaging	Het
Pla2r1	T	C	2: 60,253,080 (GRCm39)	N1337S	probably damaging	Het
Prkd3	A	T	17: 79,282,802 (GRCm39)		probably null	Het
Pum2	T	A	12: 8,778,638 (GRCm39)	Y429*	probably null	Het
Resf1	G	A	6: 149,230,724 (GRCm39)	V1257I	possibly damaging	Het
Rttn	T	A	18: 89,038,340 (GRCm39)	V812E	probably damaging	Het
Rufy2	T	A	10: 62,842,526 (GRCm39)	L483H	probably damaging	Het
Slc35a3	T	A	3: 116,480,972 (GRCm39)	Q97L	probably damaging	Het
St18	A	T	1: 6,872,552 (GRCm39)	M96L	probably benign	Het
Strc	G	A	2: 121,205,415 (GRCm39)	A905V	probably damaging	Het
Syne3	T	C	12: 104,924,386 (GRCm39)	M338V	probably benign	Het
Syngr2	A	G	11: 117,704,186 (GRCm39)	D187G	probably benign	Het
Tas2r109	A	C	6: 132,957,423 (GRCm39)	I169R	probably benign	Het
Tbc1d22a	T	A	15: 86,275,266 (GRCm39)		probably null	Het
Thbs1	T	A	2: 117,948,821 (GRCm39)		probably null	Het
Them6	C	A	15: 74,593,524 (GRCm39)	D127E	probably damaging	Het
Tmem132d	T	C	5: 127,869,522 (GRCm39)	D604G	probably damaging	Het
Tnni1	A	G	1: 135,733,330 (GRCm39)	T51A	probably benign	Het
Topors	T	C	4: 40,262,879 (GRCm39)	N135S	probably damaging	Het
Unc80	A	T	1: 66,645,752 (GRCm39)	D1476V	probably damaging	Het
Vmn1r17	A	G	6: 57,337,573 (GRCm39)	V264A	probably benign	Het
Vmn1r193	T	A	13: 22,403,732 (GRCm39)	T87S	probably benign	Het
Vmn1r202	C	A	13: 22,685,772 (GRCm39)	R215L	probably damaging	Het
Vmn2r24	A	T	6: 123,793,019 (GRCm39)	N782I	probably damaging	Het
Vmn2r53	A	G	7: 12,332,438 (GRCm39)	F404L	possibly damaging	Het
Xpo4	A	T	14: 57,823,383 (GRCm39)	C1036S	possibly damaging	Het
Yae1d1	T	C	13: 18,164,306 (GRCm39)	N104D	probably benign	Het
Zan	C	A	5: 137,442,209 (GRCm39)	R1901L	unknown	Het
Zbtb9	G	A	17: 27,193,897 (GRCm39)	R434H	probably damaging	Het
Zdhhc23	A	C	16: 43,793,871 (GRCm39)	C268G	probably 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
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

Predicted Primers

PCR Primer
(F):5'- ACATACCTGATTTTGAGGTGGG -3'
(R):5'- ATTACTCACCACTCATTGCAGC -3'

Sequencing Primer
(F):5'- TGAGGTGGGTAACATCACATC -3'
(R):5'- CTCATTGCAGCCAACAGAAG -3'

Posted On

2014-08-25