Mutagenetix > Incidental Mutation

Incidental Mutation 'R1439:Mus81'

160885

Institutional Source

Beutler Lab

Gene Symbol

Mus81

Ensembl Gene

ENSMUSG00000024906

Gene Name

MUS81 structure-specific endonuclease subunit

Synonyms

1200008A18Rik

MMRRC Submission

039494-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.316) question?

Stock #

R1439 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

5532589-5538461 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 5535145 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 295 (R295G)

Ref Sequence

ENSEMBL: ENSMUSP00000114895 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025841] [ENSMUST00000070118] [ENSMUST00000124334] [ENSMUST00000126471] [ENSMUST00000168330] [ENSMUST00000165485] [ENSMUST00000166253] [ENSMUST00000167371]

AlphaFold

Q91ZJ0

PDB Structure

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

Predicted Effect

probably benign
Transcript: ENSMUST00000025841
AA Change: R295G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000025841
Gene: ENSMUSG00000024906
AA Change: R295G

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: ENSMUST00000124334
AA Change: R295G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000114895
Gene: ENSMUSG00000024906
AA Change: R295G

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: R259G

SMART Domains

Protein: ENSMUSP00000118580
Gene: ENSMUSG00000024906
AA Change: R259G

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: ENSMUST00000144422

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154215

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147961

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149908

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151932

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146661

Predicted Effect

probably benign
Transcript: ENSMUST00000168330

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: ENSMUST00000166253

SMART Domains

Protein: ENSMUSP00000127312
Gene: ENSMUSG00000024909

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
EGF_CA	54	92	1.94e-12	SMART
EGF_CA	93	132	1.36e-7	SMART
EGF_CA	133	172	2.19e-11	SMART
EGF	176	218	1.95e1	SMART

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: ENSMUST00000164388

SMART Domains

Protein: ENSMUSP00000131979
Gene: ENSMUSG00000024909

Domain	Start	End	E-Value	Type
EGF	4	35	1.59e1	SMART
EGF	39	81	1.95e1	SMART

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.8%
3x: 97.8%
10x: 94.4%
20x: 86.3%

Validation Efficiency

100% (72/72)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agap1	A	G	1: 89,770,908 (GRCm39)	N499S	probably damaging	Het
AI661453	C	A	17: 47,777,587 (GRCm39)		probably benign	Het
Akap1	C	A	11: 88,735,577 (GRCm39)	G362*	probably null	Het
Alkbh1	A	G	12: 87,475,915 (GRCm39)	V289A	probably damaging	Het
Bnc2	C	T	4: 84,194,305 (GRCm39)	E1035K	probably benign	Het
C1s2	T	A	6: 124,607,126 (GRCm39)		probably benign	Het
Cabin1	A	G	10: 75,492,640 (GRCm39)	I1885T	probably damaging	Het
Col22a1	A	G	15: 71,824,226 (GRCm39)		probably benign	Het
Cpne4	A	T	9: 104,866,831 (GRCm39)	T248S	probably damaging	Het
Cracd	T	C	5: 76,988,757 (GRCm39)	V36A	probably damaging	Het
Cubn	T	C	2: 13,292,379 (GRCm39)	N3268S	probably damaging	Het
Ddx10	T	A	9: 53,151,787 (GRCm39)	K79N	probably damaging	Het
Dennd1a	A	C	2: 37,933,412 (GRCm39)	L131R	probably damaging	Het
Dnah9	T	C	11: 65,764,958 (GRCm39)	Y3862C	probably benign	Het
Eif3e	A	G	15: 43,141,824 (GRCm39)		probably benign	Het
Emsy	T	C	7: 98,250,048 (GRCm39)		probably benign	Het
Ep400	A	T	5: 110,833,344 (GRCm39)	D1959E	unknown	Het
Fpr-rs7	A	G	17: 20,333,869 (GRCm39)	I207T	probably benign	Het
Fubp3	C	A	2: 31,488,563 (GRCm39)	L140I	probably damaging	Het
Gas2l2	T	C	11: 83,318,298 (GRCm39)	D137G	probably damaging	Het
Git1	G	T	11: 77,397,244 (GRCm39)	R699L	possibly damaging	Het
Gnao1	T	A	8: 94,690,065 (GRCm39)	F27L	probably benign	Het
Hlx	G	T	1: 184,464,184 (GRCm39)	A52D	probably damaging	Het
Itga6	T	G	2: 71,664,378 (GRCm39)	Y505D	probably damaging	Het
Itgad	A	T	7: 127,782,178 (GRCm39)	T205S	probably benign	Het
Jakmip3	A	T	7: 138,631,375 (GRCm39)	Y574F	probably benign	Het
Laptm5	G	T	4: 130,653,520 (GRCm39)		probably benign	Het
Mlana	A	T	19: 29,684,252 (GRCm39)	R71S	probably benign	Het
Mroh2a	G	C	1: 88,185,524 (GRCm39)	E1510D	probably damaging	Het
Ncapd3	T	A	9: 26,998,862 (GRCm39)		probably null	Het
Nectin1	A	G	9: 43,703,396 (GRCm39)	E218G	possibly damaging	Het
Nectin3	A	T	16: 46,268,757 (GRCm39)	Y548*	probably null	Het
Nif3l1	T	C	1: 58,487,102 (GRCm39)	F96S	probably damaging	Het
Ntrk1	A	G	3: 87,696,918 (GRCm39)		probably null	Het
Obsl1	C	A	1: 75,463,428 (GRCm39)	E1755*	probably null	Het
Or4p23	T	C	2: 88,577,178 (GRCm39)	E18G	possibly damaging	Het
Osbpl9	T	C	4: 108,958,353 (GRCm39)	D74G	probably damaging	Het
Osgin1	T	A	8: 120,169,852 (GRCm39)		probably null	Het
Otogl	A	G	10: 107,615,113 (GRCm39)	Y1931H	probably benign	Het
Pmepa1	A	G	2: 173,069,874 (GRCm39)	I227T	probably benign	Het
Pprc1	T	A	19: 46,052,175 (GRCm39)	N564K	possibly damaging	Het
Prkaa1	T	C	15: 5,194,225 (GRCm39)	F92S	probably damaging	Het
Ptprd	A	G	4: 75,984,437 (GRCm39)	F811L	probably damaging	Het
Rad54b	A	G	4: 11,606,152 (GRCm39)	K520R	possibly damaging	Het
Rbfox1	A	G	16: 7,148,297 (GRCm39)	T269A	possibly damaging	Het
Rfwd3	T	C	8: 112,004,920 (GRCm39)	Y554C	probably damaging	Het
Rfx2	A	T	17: 57,094,720 (GRCm39)	V208E	probably damaging	Het
Rgs22	G	T	15: 36,025,939 (GRCm39)		probably benign	Het
Rrbp1	A	G	2: 143,797,032 (GRCm39)		probably null	Het
Ryr2	C	T	13: 11,729,389 (GRCm39)		probably benign	Het
Sbno1	A	G	5: 124,522,523 (GRCm39)		probably benign	Het
Secisbp2	T	C	13: 51,833,759 (GRCm39)		probably benign	Het
Sgsm2	C	A	11: 74,759,964 (GRCm39)	R58L	probably benign	Het
Slc25a36	A	C	9: 96,975,126 (GRCm39)		probably benign	Het
Spink4	A	G	4: 40,929,121 (GRCm39)	T49A	possibly damaging	Het
Steap3	A	T	1: 120,155,550 (GRCm39)	F470I	probably damaging	Het
Stk10	A	G	11: 32,567,919 (GRCm39)	Q907R	probably damaging	Het
Tdrd5	A	G	1: 156,105,057 (GRCm39)	V446A	probably damaging	Het
Tmem117	G	A	15: 94,992,478 (GRCm39)	M379I	probably benign	Het
Trappc12	A	G	12: 28,797,160 (GRCm39)	L124P	possibly damaging	Het
Trim9	G	A	12: 70,297,867 (GRCm39)	H613Y	probably damaging	Het
Trio	A	G	15: 27,898,000 (GRCm39)	W371R	probably damaging	Het
Ulk4	G	C	9: 121,095,324 (GRCm39)	H110D	possibly damaging	Het
Upb1	T	C	10: 75,275,776 (GRCm39)	V387A	probably benign	Het
Utrn	A	T	10: 12,619,793 (GRCm39)	I284N	possibly damaging	Het
Vmn2r111	C	A	17: 22,790,097 (GRCm39)	W303L	probably benign	Het
Vmn2r15	G	T	5: 109,441,953 (GRCm39)	P160Q	probably damaging	Het
Wdtc1	A	G	4: 133,029,118 (GRCm39)	S323P	probably benign	Het
Zfp846	T	A	9: 20,505,393 (GRCm39)	C418S	possibly damaging	Het
Zfyve26	G	T	12: 79,298,937 (GRCm39)	P441Q	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
R0116:Mus81	UTSW	19	5,536,552 (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
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'- TAGGTCATCTAGCCGCTTGCGTTC -3'
(R):5'- ACTACCCTGGCACTGAAGGTTCTG -3'

Sequencing Primer
(F):5'- TTCCACAATGTGGTCCAGG -3'
(R):5'- cactgaaggttctggccttATG -3'

Posted On

2014-03-14