Mutagenetix > Incidental Mutations

Incidental Mutation 'R0378:Mum1'

261879

Institutional Source

Beutler Lab

Gene Symbol

Mum1

Ensembl Gene

ENSMUSG00000020156

Gene Name

melanoma associated antigen (mutated) 1

Synonyms

MMRRC Submission

038584-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0378 (G1)

Quality Score

181

Status

Not validated

Chromosome

Chromosomal Location

80226434-80243903 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

C to A at 80238879 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000020365 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020365]

Predicted Effect

probably null
Transcript: ENSMUST00000020365

SMART Domains

Protein: ENSMUSP00000020365
Gene: ENSMUSG00000020156

Domain	Start	End	E-Value	Type
low complexity region	127	140	N/A	INTRINSIC
low complexity region	157	170	N/A	INTRINSIC
Pfam:PWWP	381	458	2.9e-8	PFAM
low complexity region	671	682	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125784

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126917

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135598

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136208

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136791

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138801

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141962

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146538

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.0%
20x: 94.8%

Validation Efficiency

95% (40/42)

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts18	C	A	8: 113,743,117	R651L	probably damaging	Het
Amd1	T	C	10: 40,289,384	D317G	possibly damaging	Het
Artn	A	G	4: 117,927,618		probably benign	Het
Asna1	A	T	8: 85,025,264	M1K	probably null	Het
Bub1b	T	A	2: 118,641,123	V988E	probably benign	Het
Cyp2c65	G	T	19: 39,073,218	C216F	probably benign	Het
Cyp3a11	T	C	5: 145,868,607	E200G	probably benign	Het
Cyp3a25	T	A	5: 145,986,842	K330N	probably damaging	Het
Duox2	C	A	2: 122,284,583	V1138L	probably benign	Het
Erc2	A	G	14: 28,011,694	D567G	probably damaging	Het
Eri2	A	G	7: 119,793,916		probably null	Het
Foxa3	A	G	7: 19,023,369	Y17H	probably damaging	Het
Fto	T	C	8: 91,474,312	S324P	probably damaging	Het
Gls2	T	G	10: 128,207,311	L457R	probably benign	Het
Gstcd	A	T	3: 132,986,408	L582H	probably damaging	Het
Gtf3c1	G	A	7: 125,647,614	R1508*	probably null	Het
Kif21a	T	C	15: 90,969,774		probably null	Het
Klra5	A	T	6: 129,906,614	D93E	possibly damaging	Het
Lgr5	T	C	10: 115,454,499	D456G	probably damaging	Het
Mau2	A	G	8: 70,030,655	S186P	probably damaging	Het
Msr1	T	C	8: 39,589,382	D384G	possibly damaging	Het
Ncf4	T	C	15: 78,253,303	V93A	probably damaging	Het
Oas1f	T	G	5: 120,856,426	C337G	probably damaging	Het
Olfr119	A	G	17: 37,701,041	M124V	probably damaging	Het
Olfr482	A	T	7: 108,095,222	F116Y	probably benign	Het
Olfr820	T	A	10: 130,018,003	L214H	probably damaging	Het
Rasl10b	T	C	11: 83,418,693	S159P	probably damaging	Het
Sephs1	A	G	2: 4,899,560	T250A	probably benign	Het
Smg8	C	A	11: 87,080,423	D841Y	probably damaging	Het
Sox7	T	C	14: 63,943,949	V65A	probably damaging	Het
Sp140	C	T	1: 85,620,051		probably benign	Het
Srsf10	A	G	4: 135,863,190	Y142C	possibly damaging	Het
Tcam1	G	A	11: 106,284,078	E120K	probably benign	Het
Tcerg1l	A	G	7: 138,276,655	V326A	probably benign	Het
Tcl1b5	T	A	12: 105,179,067	W97R	probably damaging	Het
Tmem108	T	C	9: 103,499,657	R198G	possibly damaging	Het
Ube2ql1	T	A	13: 69,738,898	Q148L	possibly damaging	Het
Vmn1r5	A	T	6: 56,985,585	I82L	probably benign	Het
Wdr6	A	T	9: 108,575,864	S273R	probably damaging	Het
Ylpm1	C	T	12: 84,997,076		probably benign	Het
Zfp90	G	A	8: 106,425,506	R617Q	possibly damaging	Het

Other mutations in Mum1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01412:Mum1	APN	10	80234329	critical splice donor site	probably null
IGL02152:Mum1	APN	10	80239978	missense	probably damaging	1.00
IGL02541:Mum1	APN	10	80228439	critical splice donor site	probably null
IGL02562:Mum1	APN	10	80238895	missense	probably damaging	1.00
IGL02609:Mum1	APN	10	80230083	missense	probably damaging	0.99
R0242:Mum1	UTSW	10	80234258	missense	probably benign	0.02
R0242:Mum1	UTSW	10	80234258	missense	probably benign	0.02
R0441:Mum1	UTSW	10	80229025	missense	probably damaging	1.00
R0675:Mum1	UTSW	10	80230080	missense	probably damaging	0.99
R1558:Mum1	UTSW	10	80232944	missense	probably benign	0.05
R1612:Mum1	UTSW	10	80233055	unclassified	probably benign
R1873:Mum1	UTSW	10	80232608	missense	possibly damaging	0.93
R2247:Mum1	UTSW	10	80240425	missense	probably damaging	1.00
R3905:Mum1	UTSW	10	80238316	missense	probably damaging	1.00
R3907:Mum1	UTSW	10	80238316	missense	probably damaging	1.00
R3908:Mum1	UTSW	10	80238316	missense	probably damaging	1.00
R4468:Mum1	UTSW	10	80240736	intron	probably benign
R4657:Mum1	UTSW	10	80233014	missense	probably benign	0.00
R4989:Mum1	UTSW	10	80232868	missense	probably benign	0.01
R5030:Mum1	UTSW	10	80240375	intron	probably benign
R5133:Mum1	UTSW	10	80232868	missense	probably benign	0.01
R5134:Mum1	UTSW	10	80232868	missense	probably benign	0.01
R5239:Mum1	UTSW	10	80228421	nonsense	probably null
R6119:Mum1	UTSW	10	80229031	missense	probably benign	0.25
R6253:Mum1	UTSW	10	80233014	missense	probably benign	0.00
R6526:Mum1	UTSW	10	80232279	missense	probably benign	0.18
R7421:Mum1	UTSW	10	80232753	missense	probably benign	0.38
R8116:Mum1	UTSW	10	80240397	missense	probably damaging	1.00
R8252:Mum1	UTSW	10	80241860	missense	probably benign	0.09

Predicted Primers

Posted On

2015-02-04