Mutagenetix > Incidental Mutation

Incidental Mutation 'R2401:Muc3'

248683

Institutional Source

Beutler Lab

Gene Symbol

Muc3

Ensembl Gene

ENSMUSG00000037390

Gene Name

mucin 3, intestinal

Synonyms

MMRRC Submission

040367-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.051) question?

Stock #

R2401 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

137134922-137149322 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 137154041 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000045196 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041226]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000041226

SMART Domains

Protein: ENSMUSP00000045196
Gene: ENSMUSG00000037390

Domain	Start	End	E-Value	Type
low complexity region	1	62	N/A	INTRINSIC
EGF_like	85	118	3.64e1	SMART
SEA	128	241	3.05e-32	SMART
EGF_like	290	331	3.72e1	SMART
transmembrane domain	340	362	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000111075

SMART Domains

Protein: ENSMUSP00000106704
Gene: ENSMUSG00000079174

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.0%

Validation Efficiency

100% (40/40)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	T	C	7: 120,283,089	L1158P	probably damaging	Het
Acnat1	A	T	4: 49,451,077	N11K	possibly damaging	Het
Ammecr1l	T	A	18: 31,776,003	I217N	possibly damaging	Het
Ankrd11	G	A	8: 122,908,734	R54*	probably null	Het
Ccdc178	C	T	18: 22,131,414		probably null	Het
Ccdc36	G	T	9: 108,413,006	T133N	possibly damaging	Het
Clcn7	T	C	17: 25,153,140	S425P	probably benign	Het
Cnmd	A	G	14: 79,656,605	V114A	probably damaging	Het
Col13a1	T	C	10: 61,851,162	T651A	unknown	Het
Col1a2	G	A	6: 4,518,822		probably benign	Het
Cyp3a25	T	C	5: 145,986,968		probably null	Het
Dmrta1	A	T	4: 89,691,616	D271V	probably benign	Het
Efcab3	T	A	11: 105,072,318		probably null	Het
Exo5	T	C	4: 120,921,997	I224V	probably damaging	Het
Fam162b	C	A	10: 51,587,218	A118S	probably damaging	Het
Glb1	A	G	9: 114,454,257	T406A	possibly damaging	Het
Grk3	T	C	5: 112,914,983	N666S	probably benign	Het
Hars2	T	C	18: 36,789,523	F370L	possibly damaging	Het
Ighv8-11	T	G	12: 115,567,603		probably benign	Het
Inpp4b	A	T	8: 81,997,339	D500V	probably benign	Het
Itgb4	A	G	11: 116,006,563	D1534G	possibly damaging	Het
Kcnk2	G	C	1: 189,340,017	T38S	possibly damaging	Het
Kif16b	C	T	2: 142,756,122	V527I	probably benign	Het
Kmt2b	A	G	7: 30,576,708	Y1789H	probably damaging	Het
Lpl	A	C	8: 68,901,243	D412A	possibly damaging	Het
Lrrc27	T	G	7: 139,223,613	L151R	probably damaging	Het
Nup205	T	A	6: 35,208,134	Y829*	probably null	Het
Obscn	T	C	11: 59,131,646	R758G	possibly damaging	Het
Olfm4	A	G	14: 80,021,752	Y447C	probably damaging	Het
Olfr1308	T	C	2: 111,960,149	Y308C	probably benign	Het
Pcdhb6	T	C	18: 37,335,169	V381A	probably benign	Het
Prmt2	C	T	10: 76,225,415	W79*	probably null	Het
Skiv2l	T	C	17: 34,840,385	M1029V	probably benign	Het
Stil	A	G	4: 115,016,286	R369G	probably null	Het
Ttc41	T	C	10: 86,724,374	I387T	probably benign	Het
Tubgcp6	A	G	15: 89,102,984	L1262P	probably benign	Het
Vmn2r112	T	A	17: 22,603,115	V258E	probably damaging	Het
Zfp804b	T	C	5: 6,769,445	H1206R	probably damaging	Het

Other mutations in Muc3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00503:Muc3	APN	5	137137123	nonsense	probably null
R0256:Muc3	UTSW	5	137146691	missense	probably damaging	1.00
R0884:Muc3	UTSW	5	137142298	missense	possibly damaging	0.88
R1368:Muc3	UTSW	5	137146826	splice site	probably benign
R1456:Muc3	UTSW	5	137137951	missense	probably benign	0.01
R1670:Muc3	UTSW	5	137143995	missense	probably benign	0.22
R2698:Muc3	UTSW	5	137146636	missense	probably damaging	0.99
R4637:Muc3	UTSW	5	137146654	missense	probably damaging	0.98
R5128:Muc3	UTSW	5	137138186	critical splice donor site	probably null
R5323:Muc3	UTSW	5	137146689	nonsense	probably null
R5601:Muc3	UTSW	5	137138015	missense	probably damaging	1.00
R5967:Muc3	UTSW	5	137146637	missense	probably benign	0.03
R6480:Muc3	UTSW	5	137142390	missense
R7777:Muc3	UTSW	5	137146716	synonymous	silent
R7868:Muc3	UTSW	5	137146777	missense
R7974:Muc3	UTSW	5	137146816	missense
R8393:Muc3	UTSW	5	137142331	missense
R8415:Muc3	UTSW	5	137143950	missense
R8419:Muc3	UTSW	5	137146722	missense
R9105:Muc3	UTSW	5	137142390	missense
R9742:Muc3	UTSW	5	137138279	missense

Predicted Primers

PCR Primer
(F):5'- GAGAATTCGGCTCACAGTGG -3'
(R):5'- TGCTCAGAGAGGTATTGAACG -3'

Sequencing Primer
(F):5'- ACTATGTTTGAATGAGATCGGCCCC -3'
(R):5'- CTCAGAGAGGTATTGAACGAAGGAG -3'

Posted On

2014-11-11