Mutagenetix > Incidental Mutation

Incidental Mutation 'R0116:Mus81'

20852

Institutional Source

Beutler Lab

Gene Symbol

Mus81

Ensembl Gene

ENSMUSG00000024906

Gene Name

MUS81 structure-specific endonuclease subunit

Synonyms

1200008A18Rik

MMRRC Submission

038402-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.280) question?

Stock #

R0116 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

5532589-5538461 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 5536552 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Aspartic acid at position 138 (A138D)

Ref Sequence

ENSEMBL: ENSMUSP00000114895 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025841] [ENSMUST00000070118] [ENSMUST00000116560] [ENSMUST00000124334] [ENSMUST00000126471] [ENSMUST00000209469] [ENSMUST00000167371] [ENSMUST00000165485] [ENSMUST00000168330]

AlphaFold

Q91ZJ0

PDB Structure

Solution NMR structure of the Mus81 N-terminal HhH. Northeast Structural Genomics Consortium target MmT1A [SOLUTION NMR]

Predicted Effect

probably damaging
Transcript: ENSMUST00000025841
AA Change: A138D

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000025841
Gene: ENSMUSG00000024906
AA Change: A138D

Domain	Start	End	E-Value	Type
SCOP:d1jmsa1	9	73	7e-3	SMART
PDB:2KP7\|A	11	90	5e-51	PDB
low complexity region	92	107	N/A	INTRINSIC
PDB:2MC3\|A	121	229	1e-48	PDB
ERCC4	270	372	8.31e-26	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000070118

SMART Domains

Protein: ENSMUSP00000064719
Gene: ENSMUSG00000024909

Domain	Start	End	E-Value	Type
signal peptide	1	46	N/A	INTRINSIC
EGF_like	73	113	2.74e-1	SMART
low complexity region	115	130	N/A	INTRINSIC
EGF_CA	142	182	1.08e-10	SMART
EGF_CA	183	221	1.94e-12	SMART
EGF_CA	222	261	1.36e-7	SMART
EGF_CA	262	301	2.19e-11	SMART
EGF	305	347	1.95e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000116560

SMART Domains

Protein: ENSMUSP00000112259
Gene: ENSMUSG00000056201

Domain	Start	End	E-Value	Type
ADF	19	154	5.3e-56	SMART
low complexity region	195	205	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000124334
AA Change: A138D

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000114895
Gene: ENSMUSG00000024906
AA Change: A138D

Domain	Start	End	E-Value	Type
SCOP:d1jmsa1	9	73	9e-3	SMART
PDB:2KP7\|A	11	90	9e-51	PDB
low complexity region	92	107	N/A	INTRINSIC
PDB:2MC3\|A	121	229	3e-48	PDB
ERCC4	270	372	8.31e-26	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000126471

SMART Domains

Protein: ENSMUSP00000121435
Gene: ENSMUSG00000024906

Domain	Start	End	E-Value	Type
PDB:2KP7\|A	11	72	8e-21	PDB

Predicted Effect

unknown
Transcript: ENSMUST00000133436
AA Change: A102D

SMART Domains

Protein: ENSMUSP00000118580
Gene: ENSMUSG00000024906
AA Change: A102D

Domain	Start	End	E-Value	Type
PDB:2KP7\|A	2	55	5e-30	PDB
low complexity region	57	72	N/A	INTRINSIC
PDB:2MC3\|A	86	194	8e-50	PDB
ERCC4	235	337	8.31e-26	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140365

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149908

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144422

Predicted Effect

probably benign
Transcript: ENSMUST00000209469

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147961

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146661

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151932

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154215

Predicted Effect

probably benign
Transcript: ENSMUST00000164204

SMART Domains

Protein: ENSMUSP00000128414
Gene: ENSMUSG00000024909

Domain	Start	End	E-Value	Type
Pfam:EGF_CA	37	69	5.4e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000167371

SMART Domains

Protein: ENSMUSP00000129746
Gene: ENSMUSG00000024909

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
EGF_like	54	94	2.74e-1	SMART
low complexity region	96	111	N/A	INTRINSIC
EGF_CA	123	161	1.94e-12	SMART
EGF_CA	162	201	1.36e-7	SMART
EGF_CA	202	241	2.19e-11	SMART
EGF	245	287	1.95e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000165485

SMART Domains

Protein: ENSMUSP00000133016
Gene: ENSMUSG00000024909

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
EGF_like	54	94	2.74e-1	SMART
low complexity region	96	111	N/A	INTRINSIC
EGF_CA	123	163	1.08e-10	SMART
EGF_CA	164	202	1.94e-12	SMART
EGF_CA	203	242	1.36e-7	SMART
EGF_CA	243	282	2.19e-11	SMART
EGF	286	328	1.95e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000168330

Meta Mutation Damage Score

0.7638

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 94.2%

Validation Efficiency

94% (95/101)

MGI Phenotype

PHENOTYPE: Homozygous and heterozygous null mice for one allele display increased tumor incidence and reduced life spans. Homozygous null mice for a second allele display normal life span and tumor incidence. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406C07Rik	A	T	9: 15,202,066 (GRCm39)	V152E	probably damaging	Het
Abca5	T	G	11: 110,167,331 (GRCm39)	E1495A	probably damaging	Het
Abcc12	G	A	8: 87,261,627 (GRCm39)	S668F	probably benign	Het
Adgrl4	A	T	3: 151,223,247 (GRCm39)	T608S	probably benign	Het
Angel2	G	A	1: 190,673,187 (GRCm39)	D255N	probably benign	Het
Apob	T	A	12: 8,039,113 (GRCm39)		probably benign	Het
Arfgef2	A	T	2: 166,715,603 (GRCm39)	R1349S	probably damaging	Het
Atp2b2	C	T	6: 113,770,656 (GRCm39)	V418I	probably damaging	Het
Birc6	C	A	17: 74,930,741 (GRCm39)		probably benign	Het
Capn13	T	A	17: 73,658,519 (GRCm39)	Y183F	probably damaging	Het
Cngb1	A	G	8: 95,987,266 (GRCm39)	S352P	probably damaging	Het
Col6a3	A	G	1: 90,741,273 (GRCm39)	S720P	probably damaging	Het
Cpa4	C	T	6: 30,579,657 (GRCm39)	R155W	probably damaging	Het
Dapk1	A	G	13: 60,908,914 (GRCm39)	I1176V	probably benign	Het
Dnah17	T	C	11: 117,949,132 (GRCm39)	E2959G	probably benign	Het
Dnah7b	T	A	1: 46,252,520 (GRCm39)	I1734N	possibly damaging	Het
Dnajb7	A	G	15: 81,291,555 (GRCm39)	Y261H	probably benign	Het
Dock2	T	C	11: 34,579,392 (GRCm39)		probably benign	Het
Dyrk3	A	T	1: 131,057,576 (GRCm39)	V199E	probably damaging	Het
F2r	G	T	13: 95,740,994 (GRCm39)	C180*	probably null	Het
F5	A	G	1: 164,012,483 (GRCm39)	S466G	probably benign	Het
Fbn2	A	T	18: 58,235,445 (GRCm39)	C677*	probably null	Het
Fbxo41	A	G	6: 85,454,890 (GRCm39)	S673P	probably damaging	Het
Fhad1	G	T	4: 141,667,406 (GRCm39)	H639N	probably benign	Het
Fmnl3	G	C	15: 99,220,619 (GRCm39)		probably benign	Het
Foxa2	A	G	2: 147,885,481 (GRCm39)	S270P	probably damaging	Het
Fxyd7	C	T	7: 30,746,793 (GRCm39)		probably null	Het
Gm5225	A	G	17: 24,243,032 (GRCm39)	D67G	probably benign	Het
Grik3	G	A	4: 125,564,349 (GRCm39)	E444K	probably benign	Het
Gsdma2	A	G	11: 98,540,009 (GRCm39)	K44E	probably damaging	Het
Haus1	T	A	18: 77,849,770 (GRCm39)	K130*	probably null	Het
Heg1	A	G	16: 33,556,028 (GRCm39)		probably benign	Het
Hormad2	A	G	11: 4,362,206 (GRCm39)		probably benign	Het
Hsd17b3	G	A	13: 64,206,403 (GRCm39)	R300C	possibly damaging	Het
Irf5	T	C	6: 29,536,108 (GRCm39)	F374S	probably damaging	Het
Itch	A	G	2: 155,059,903 (GRCm39)		probably benign	Het
Jade2	A	T	11: 51,722,136 (GRCm39)	L139Q	probably damaging	Het
Kif5c	G	A	2: 49,642,251 (GRCm39)		probably benign	Het
Lama1	T	C	17: 68,083,918 (GRCm39)	Y1387H	probably benign	Het
Larp4b	A	G	13: 9,220,724 (GRCm39)	R658G	probably damaging	Het
Mcph1	C	T	8: 18,838,264 (GRCm39)	L729F	probably benign	Het
Me1	A	T	9: 86,536,720 (GRCm39)	N118K	probably benign	Het
Med13	A	G	11: 86,210,723 (GRCm39)	L473S	probably damaging	Het
Mgam	T	A	6: 40,635,921 (GRCm39)	Y359N	probably damaging	Het
Morc2b	A	G	17: 33,356,015 (GRCm39)	S586P	probably damaging	Het
Mthfr	A	G	4: 148,135,980 (GRCm39)	D310G	probably benign	Het
Mtmr7	A	T	8: 41,034,447 (GRCm39)		probably benign	Het
Mtus1	A	G	8: 41,451,514 (GRCm39)		probably benign	Het
Myom2	A	T	8: 15,167,633 (GRCm39)	I1073F	probably damaging	Het
Nhsl1	A	T	10: 18,400,990 (GRCm39)	K739*	probably null	Het
Nlrp4d	T	A	7: 10,108,818 (GRCm39)	K762N	probably benign	Het
Nrap	T	C	19: 56,343,978 (GRCm39)	Y724C	probably damaging	Het
Ogn	A	T	13: 49,774,514 (GRCm39)	Y219F	possibly damaging	Het
Or6c212	T	A	10: 129,558,846 (GRCm39)	D189V	probably damaging	Het
Or8b56	T	C	9: 38,739,860 (GRCm39)	L291P	probably damaging	Het
Or8g30	A	T	9: 39,230,160 (GRCm39)	I250N	probably damaging	Het
Padi2	T	C	4: 140,653,550 (GRCm39)	V180A	probably benign	Het
Papss2	C	T	19: 32,615,768 (GRCm39)	R167*	probably null	Het
Pcbp2	T	C	15: 102,382,670 (GRCm39)		probably benign	Het
Per1	T	A	11: 68,992,706 (GRCm39)		probably benign	Het
Pik3ca	T	C	3: 32,514,094 (GRCm39)	I860T	probably damaging	Het
Pkdrej	G	A	15: 85,701,746 (GRCm39)	Q1397*	probably null	Het
Plce1	T	C	19: 38,710,265 (GRCm39)	V1133A	probably benign	Het
Pnma8a	T	G	7: 16,694,625 (GRCm39)	V160G	probably damaging	Het
Prss12	T	C	3: 123,276,423 (GRCm39)	C351R	probably damaging	Het
Qprt	A	T	7: 126,708,269 (GRCm39)	L54Q	probably damaging	Het
Raf1	C	T	6: 115,603,344 (GRCm39)	S165N	probably damaging	Het
Rere	A	G	4: 150,701,433 (GRCm39)	N1271S	probably benign	Het
Rnasel	T	A	1: 153,630,258 (GRCm39)	L258H	probably damaging	Het
Ryr2	T	C	13: 11,724,807 (GRCm39)	D2502G	probably damaging	Het
Ryr3	G	A	2: 112,633,510 (GRCm39)	S2081L	probably damaging	Het
Sc5d	G	T	9: 42,171,155 (GRCm39)	Y11*	probably null	Het
Slc25a29	A	C	12: 108,793,017 (GRCm39)	L187R	possibly damaging	Het
Slc2a7	G	A	4: 150,252,721 (GRCm39)	V454M	probably benign	Het
Slco1b2	A	T	6: 141,615,114 (GRCm39)	T340S	probably benign	Het
Smarcc1	A	G	9: 109,976,172 (GRCm39)	N153S	possibly damaging	Het
Snx1	C	A	9: 65,995,821 (GRCm39)	E516*	probably null	Het
Sptlc2	T	C	12: 87,403,454 (GRCm39)	D115G	probably benign	Het
Stard9	A	G	2: 120,464,736 (GRCm39)	N67S	probably damaging	Het
Styxl2	A	C	1: 165,927,270 (GRCm39)	S781A	probably benign	Het
Swap70	G	A	7: 109,872,489 (GRCm39)	R368H	probably benign	Het
Tcaf3	T	C	6: 42,568,284 (GRCm39)	K691E	probably benign	Het
Tmco4	T	C	4: 138,781,231 (GRCm39)	F465S	probably damaging	Het
Tmem245	A	G	4: 56,926,213 (GRCm39)	S290P	probably benign	Het
Top2a	T	C	11: 98,894,416 (GRCm39)	T972A	probably benign	Het
Tpr	T	A	1: 150,285,898 (GRCm39)	S527R	probably damaging	Het
Traf2	T	C	2: 25,409,621 (GRCm39)	D443G	probably damaging	Het
Trim40	A	T	17: 37,194,039 (GRCm39)		probably null	Het
Trim42	A	T	9: 97,245,456 (GRCm39)	I448N	possibly damaging	Het
Ttll9	G	A	2: 152,825,054 (GRCm39)	V78M	probably damaging	Het
Vav1	C	T	17: 57,603,039 (GRCm39)	L88F	probably damaging	Het
Vps13b	A	G	15: 35,423,301 (GRCm39)	D207G	probably damaging	Het
Wdsub1	A	G	2: 59,707,009 (GRCm39)		probably null	Het
Zfp799	A	G	17: 33,040,009 (GRCm39)	W85R	possibly damaging	Het
Zfp839	A	T	12: 110,825,203 (GRCm39)		probably benign	Het

Other mutations in Mus81

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02120:Mus81	APN	19	5,535,661 (GRCm39)	unclassified	probably benign
IGL03140:Mus81	APN	19	5,533,984 (GRCm39)	missense	probably damaging	1.00
IGL03370:Mus81	APN	19	5,534,991 (GRCm39)	unclassified	probably benign
city	UTSW	19	5,537,821 (GRCm39)	missense	probably benign	0.30
country	UTSW	19	5,534,239 (GRCm39)	missense	probably damaging	1.00
R0480:Mus81	UTSW	19	5,537,959 (GRCm39)	unclassified	probably benign
R1243:Mus81	UTSW	19	5,535,145 (GRCm39)	missense	probably benign
R1439:Mus81	UTSW	19	5,535,145 (GRCm39)	missense	probably benign
R1477:Mus81	UTSW	19	5,536,362 (GRCm39)	missense	probably benign	0.00
R1795:Mus81	UTSW	19	5,533,504 (GRCm39)	missense	probably benign	0.00
R2346:Mus81	UTSW	19	5,534,991 (GRCm39)	unclassified	probably benign
R2863:Mus81	UTSW	19	5,536,528 (GRCm39)	missense	probably damaging	1.00
R3785:Mus81	UTSW	19	5,535,389 (GRCm39)	unclassified	probably benign
R5312:Mus81	UTSW	19	5,533,522 (GRCm39)	missense	possibly damaging	0.79
R5489:Mus81	UTSW	19	5,537,917 (GRCm39)	unclassified	probably benign
R6037:Mus81	UTSW	19	5,534,032 (GRCm39)	missense	probably damaging	1.00
R6037:Mus81	UTSW	19	5,534,032 (GRCm39)	missense	probably damaging	1.00
R6970:Mus81	UTSW	19	5,535,554 (GRCm39)	missense	probably benign	0.45
R7037:Mus81	UTSW	19	5,536,108 (GRCm39)	missense	probably damaging	1.00
R7060:Mus81	UTSW	19	5,537,821 (GRCm39)	missense	probably benign	0.30
R7100:Mus81	UTSW	19	5,534,239 (GRCm39)	missense	probably damaging	1.00
R8355:Mus81	UTSW	19	5,534,220 (GRCm39)	missense	probably damaging	1.00
R8455:Mus81	UTSW	19	5,534,220 (GRCm39)	missense	probably damaging	1.00
R8916:Mus81	UTSW	19	5,534,214 (GRCm39)	missense	probably damaging	1.00
R9098:Mus81	UTSW	19	5,534,032 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TGCCCACTCTCAGAAGATGCTCAC -3'
(R):5'- ACTAGGGCTTGTAGCCTCATCTCC -3'

Sequencing Primer
(F):5'- CAGAAGATGCTCACCCTGG -3'
(R):5'- TCATCTCCCTCGCCAGG -3'

Posted On

2013-04-11