Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02652:Muc19'

302215

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Muc19

Ensembl Gene

ENSMUSG00000044021

Gene Name

mucin 19

Synonyms

apomucin, sld

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.170) question?

Stock #

IGL02652

Quality Score

Status

Chromosome

Chromosomal Location

91838326-91934555 bp(+) (GRCm38)

Type of Mutation

critical splice donor site

DNA Base Change (assembly)

T to A at 91877815 bp (GRCm38)

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

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap28	A	T	17: 67,884,800	D139E	probably benign	Het
Asph	C	T	4: 9,529,984	V347I	probably benign	Het
Ccdc138	A	T	10: 58,513,079	D149V	probably benign	Het
Cep192	A	G	18: 67,858,850		probably benign	Het
Cnnm2	G	A	19: 46,763,211	R480Q	probably damaging	Het
Col24a1	C	A	3: 145,492,301	S1321*	probably null	Het
Cops6	T	G	5: 138,161,438		probably null	Het
Crim1	G	A	17: 78,315,677	A435T	probably damaging	Het
Cttn	G	T	7: 144,441,731	Q382K	probably benign	Het
Dhx38	A	G	8: 109,556,129	L635P	probably damaging	Het
Dmtf1	T	A	5: 9,121,853	T458S	probably benign	Het
Dnah5	T	C	15: 28,366,187	F2682S	probably damaging	Het
Dnah6	T	A	6: 73,095,104	Q2413L	probably damaging	Het
Dock10	T	C	1: 80,592,844		probably null	Het
Engase	C	T	11: 118,478,950	P63S	probably damaging	Het
Grik4	A	G	9: 42,675,277	V94A	possibly damaging	Het
Heatr6	T	C	11: 83,769,732	V566A	probably damaging	Het
Hydin	A	C	8: 110,589,522	T4349P	possibly damaging	Het
Inpp4b	G	A	8: 81,770,800		probably benign	Het
Mertk	A	G	2: 128,801,270	E863G	probably benign	Het
Myo9a	T	A	9: 59,863,928	F928I	probably damaging	Het
Nyap2	T	C	1: 81,241,720	Y486H	probably damaging	Het
Oas1e	T	C	5: 120,795,405	R32G	probably damaging	Het
Olfr113	A	T	17: 37,574,945	Y159*	probably null	Het
Olfr1298	A	G	2: 111,645,494	F168L	probably benign	Het
Osbpl6	G	A	2: 76,593,454	R848Q	probably damaging	Het
Piezo2	G	A	18: 63,024,475	T2388I	probably damaging	Het
Prkdc	A	G	16: 15,783,087	T2871A	probably benign	Het
Ptpn12	T	C	5: 21,002,437	K308E	probably benign	Het
Rgsl1	A	G	1: 153,825,490	L441P	probably damaging	Het
Rictor	T	C	15: 6,776,187		probably null	Het
Scn2a	T	A	2: 65,702,038	S665T	possibly damaging	Het
Scn8a	A	G	15: 101,013,476	I926V	probably damaging	Het
Snrpg	T	C	6: 86,376,528	I30T	probably damaging	Het
Spryd3	A	T	15: 102,118,990		probably null	Het
Svil	A	G	18: 5,114,531	D2036G	probably damaging	Het
Synj2	A	T	17: 6,017,593	I551F	probably damaging	Het
Tiam2	A	T	17: 3,439,696		probably benign	Het
Tmem132b	T	C	5: 125,787,575	F915S	probably damaging	Het
Try5	C	A	6: 41,311,408	V204L	probably benign	Het
Vmn2r6	T	C	3: 64,556,328	T362A	probably benign	Het

Other mutations in Muc19

Allele	Source	Chr	Coord	Type	Predicted Effect
IGL00985:Muc19	APN	15	91886749	exon	noncoding transcript
IGL01017:Muc19	APN	15	91880707	exon	noncoding transcript
IGL01140:Muc19	APN	15	91899399	exon	noncoding transcript
IGL01292:Muc19	APN	15	91894276	exon	noncoding transcript
IGL01397:Muc19	APN	15	91894304	exon	noncoding transcript
IGL01525:Muc19	APN	15	91886683	exon	noncoding transcript
IGL01589:Muc19	APN	15	91870501	exon	noncoding transcript
IGL02023:Muc19	APN	15	91888259	exon	noncoding transcript
IGL02088:Muc19	APN	15	91891168	splice site	noncoding transcript
IGL02168:Muc19	APN	15	91894098	exon	noncoding transcript
IGL02343:Muc19	APN	15	91894234	exon	noncoding transcript
IGL02402:Muc19	APN	15	91893998	splice site	noncoding transcript
IGL02433:Muc19	APN	15	91872496	exon	noncoding transcript
IGL02533:Muc19	APN	15	91898047	exon	noncoding transcript
IGL02558:Muc19	APN	15	91897622	exon	noncoding transcript
IGL03032:Muc19	APN	15	91910539	unclassified	noncoding transcript
IGL02837:Muc19	UTSW	15	91882656	exon	noncoding transcript
R0098:Muc19	UTSW	15	91892907	exon	noncoding transcript
R0098:Muc19	UTSW	15	91892907	exon	noncoding transcript
R0208:Muc19	UTSW	15	91893024	splice site	noncoding transcript
R0597:Muc19	UTSW	15	91900502	splice site	noncoding transcript
R1185:Muc19	UTSW	15	91878549	exon	noncoding transcript
R1185:Muc19	UTSW	15	91878549	exon	noncoding transcript
R1469:Muc19	UTSW	15	91874300	unclassified	noncoding transcript
R1942:Muc19	UTSW	15	91892472	exon	noncoding transcript
R2035:Muc19	UTSW	15	91892405	splice site	noncoding transcript
R2208:Muc19	UTSW	15	91871549	exon	noncoding transcript
R2877:Muc19	UTSW	15	91893006	exon	noncoding transcript
R2897:Muc19	UTSW	15	91924665	critical splice donor site	noncoding transcript
R4110:Muc19	UTSW	15	91897622	exon	noncoding transcript
R4403:Muc19	UTSW	15	91871570	exon	noncoding transcript
R4606:Muc19	UTSW	15	91934383	exon	noncoding transcript
R4677:Muc19	UTSW	15	91888217	exon	noncoding transcript
R4753:Muc19	UTSW	15	91877761	unclassified	noncoding transcript
R4781:Muc19	UTSW	15	91903166	critical splice donor site	noncoding transcript
R4869:Muc19	UTSW	15	91897716	exon	noncoding transcript
R5000:Muc19	UTSW	15	91873231	unclassified	noncoding transcript
R5044:Muc19	UTSW	15	91888138	exon	noncoding transcript
R5156:Muc19	UTSW	15	91900420	exon	noncoding transcript
R5176:Muc19	UTSW	15	91892180	exon	noncoding transcript
R5224:Muc19	UTSW	15	91928025	exon	noncoding transcript
R5524:Muc19	UTSW	15	91894393	exon	noncoding transcript
R5568:Muc19	UTSW	15	91884274	splice site	noncoding transcript
R5592:Muc19	UTSW	15	91930314	exon	noncoding transcript

Posted On

2015-04-16