Mutagenetix > Incidental Mutation

Incidental Mutation 'R0208:Muc19'

33498

Institutional Source

Beutler Lab

Gene Symbol

Muc19

Ensembl Gene

ENSMUSG00000044021

Gene Name

mucin 19

Synonyms

sld, apomucin

MMRRC Submission

038461-MU

Accession Numbers

Essential gene?

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

Stock #

R0208 (G1)

Quality Score

191

Status

Validated

Chromosome

Chromosomal Location

91722531-91832440 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 91777218 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: 94.7%

Validation Efficiency

96% (67/70)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm1	C	T	3: 59,840,110 (GRCm39)	R61C	probably damaging	Het
Ackr4	A	G	9: 103,976,860 (GRCm39)	V29A	probably benign	Het
Adgrb1	T	C	15: 74,458,656 (GRCm39)	F313L	probably benign	Het
Arfgef2	C	T	2: 166,709,342 (GRCm39)	R1140W	probably damaging	Het
Arhgef15	A	T	11: 68,837,199 (GRCm39)	N797K	probably benign	Het
Arhgef5	A	G	6: 43,250,275 (GRCm39)	E342G	probably damaging	Het
Asb2	T	A	12: 103,291,530 (GRCm39)	N466Y	possibly damaging	Het
Atp8a1	A	T	5: 67,932,064 (GRCm39)		probably null	Het
Cacna1b	A	G	2: 24,497,492 (GRCm39)	S2140P	probably damaging	Het
Camsap2	G	C	1: 136,208,738 (GRCm39)	P918R	probably damaging	Het
Cdk7	G	T	13: 100,843,022 (GRCm39)	D202E	probably benign	Het
Cenpj	G	T	14: 56,801,427 (GRCm39)	A182E	probably benign	Het
Clstn3	A	G	6: 124,409,128 (GRCm39)		probably benign	Het
Col9a2	C	T	4: 120,909,485 (GRCm39)		probably benign	Het
D630045J12Rik	A	G	6: 38,116,385 (GRCm39)	M1745T	probably damaging	Het
Dnah11	A	C	12: 118,007,509 (GRCm39)	N2156K	probably damaging	Het
Dock3	G	T	9: 106,874,195 (GRCm39)	Y425*	probably null	Het
Eng	A	T	2: 32,569,005 (GRCm39)	T511S	probably benign	Het
Gcfc2	A	T	6: 81,920,444 (GRCm39)	S410C	probably null	Het
Grik3	T	A	4: 125,579,958 (GRCm39)	Y568N	probably damaging	Het
Gsr	T	A	8: 34,179,383 (GRCm39)	D330E	possibly damaging	Het
H2-M10.4	A	G	17: 36,771,375 (GRCm39)	W268R	probably damaging	Het
Hepacam2	A	T	6: 3,467,505 (GRCm39)		probably benign	Het
Hrct1	C	A	4: 43,727,384 (GRCm39)	T8K	possibly damaging	Het
Idua	T	A	5: 108,829,618 (GRCm39)	F447I	probably damaging	Het
Il2ra	T	C	2: 11,686,828 (GRCm39)		probably benign	Het
Ipcef1	A	G	10: 6,870,062 (GRCm39)	S113P	probably damaging	Het
Klk1b9	T	A	7: 43,628,854 (GRCm39)	N119K	possibly damaging	Het
Krtap9-3	C	A	11: 99,488,663 (GRCm39)	C73F	probably damaging	Het
Loxhd1	T	A	18: 77,492,562 (GRCm39)	F1334L	possibly damaging	Het
Med1	A	G	11: 98,046,515 (GRCm39)		probably benign	Het
Med13	A	G	11: 86,191,682 (GRCm39)		probably benign	Het
Mtor	C	A	4: 148,549,432 (GRCm39)	H605Q	probably benign	Het
Mybphl	T	C	3: 108,282,731 (GRCm39)	V207A	probably damaging	Het
Nptxr	A	T	15: 79,673,916 (GRCm39)	C366S	probably null	Het
Or5b105	G	A	19: 13,080,642 (GRCm39)	R3C	possibly damaging	Het
Or5p73	A	G	7: 108,064,750 (GRCm39)	D73G	probably damaging	Het
Or8h9	G	T	2: 86,789,748 (GRCm39)	T18K	probably damaging	Het
Pcdhb18	T	C	18: 37,623,240 (GRCm39)	I190T	possibly damaging	Het
Pde3b	A	G	7: 114,097,216 (GRCm39)	T428A	probably benign	Het
Pgbd1	A	C	13: 21,618,651 (GRCm39)	L2R	probably damaging	Het
Pkp4	A	G	2: 59,096,780 (GRCm39)	I61V	probably damaging	Het
Pold4	T	G	19: 4,282,593 (GRCm39)	Y58*	probably null	Het
Polr1d	A	C	5: 147,015,490 (GRCm39)		probably null	Het
Prex2	T	A	1: 11,355,368 (GRCm39)	D1556E	probably damaging	Het
Psmd1	T	C	1: 86,061,463 (GRCm39)	V891A	possibly damaging	Het
Rasip1	C	A	7: 45,281,999 (GRCm39)	P501T	probably damaging	Het
Scgb2b27	C	A	7: 33,711,562 (GRCm39)	E96*	probably null	Het
Sec16b	G	T	1: 157,380,505 (GRCm39)	G359*	probably null	Het
Secisbp2	A	G	13: 51,833,881 (GRCm39)	T674A	probably benign	Het
Serpinb6c	G	A	13: 34,081,379 (GRCm39)	S90L	probably benign	Het
Sgsm2	A	G	11: 74,759,067 (GRCm39)	I170T	probably damaging	Het
Slc28a1	A	T	7: 80,767,454 (GRCm39)		probably benign	Het
Slc35d1	T	C	4: 103,065,351 (GRCm39)	T177A	probably damaging	Het
Spg11	C	T	2: 121,886,177 (GRCm39)		probably null	Het
Spint1	T	C	2: 119,078,826 (GRCm39)		probably benign	Het
Spta1	A	G	1: 174,020,526 (GRCm39)	H545R	probably damaging	Het
Tada3	A	T	6: 113,343,968 (GRCm39)	L227Q	probably damaging	Het
Tln1	C	T	4: 43,549,151 (GRCm39)	V644M	probably damaging	Het
Unc79	G	A	12: 103,058,286 (GRCm39)	V1016I	probably benign	Het
Usf3	C	A	16: 44,037,269 (GRCm39)	A583E	probably damaging	Het
Ush2a	A	C	1: 188,263,958 (GRCm39)	I1612L	probably damaging	Het
Vmn2r6	T	C	3: 64,447,333 (GRCm39)	T578A	probably benign	Het
Zmat4	T	A	8: 24,392,083 (GRCm39)	M13K	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
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

Predicted Primers

PCR Primer
(F):5'- TGCAAACGTGGGTGCTACTGTC -3'
(R):5'- GGAGCCAGCATCACATTGGAAAAC -3'

Sequencing Primer
(F):5'- AGTTACACAGAGGACTATCTCAAG -3'
(R):5'- CCTTCTAGAAACATATCAGGATCTCT -3'

Posted On

2013-05-09