Mutagenetix > Incidental Mutation

Incidental Mutation 'R9098:Mus81'

691516

Institutional Source

Beutler Lab

Gene Symbol

Mus81

Ensembl Gene

ENSMUSG00000024906

Gene Name

MUS81 structure-specific endonuclease subunit

Synonyms

1200008A18Rik

MMRRC Submission

068913-MU

Accession Numbers

Essential gene?

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

Stock #

R9098 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

5532589-5538461 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 5534032 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 400 (K400*)

Ref Sequence

ENSEMBL: ENSMUSP00000114895 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025841] [ENSMUST00000070118] [ENSMUST00000124334] [ENSMUST00000126471] [ENSMUST00000165485] [ENSMUST00000166253] [ENSMUST00000167371] [ENSMUST00000167827] [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 null
Transcript: ENSMUST00000025841
AA Change: K400*

SMART Domains

Protein: ENSMUSP00000025841
Gene: ENSMUSG00000024906
AA Change: K400*

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 null
Transcript: ENSMUST00000124334
AA Change: K400*

SMART Domains

Protein: ENSMUSP00000114895
Gene: ENSMUSG00000024906
AA Change: K400*

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

probably null
Transcript: ENSMUST00000133436
AA Change: K364*

SMART Domains

Protein: ENSMUSP00000118580
Gene: ENSMUSG00000024906
AA Change: K364*

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

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: 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: 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: ENSMUST00000167827

SMART Domains

Protein: ENSMUSP00000127478
Gene: ENSMUSG00000024909

Domain	Start	End	E-Value	Type
Blast:EGF_like	1	26	9e-10	BLAST
low complexity region	28	43	N/A	INTRINSIC
EGF_CA	55	95	1.08e-10	SMART
EGF_CA	96	134	1.94e-12	SMART
EGF_CA	135	174	1.36e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000168330

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

97% (72/74)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830018L16Rik	A	T	1: 11,633,211 (GRCm39)	D168V	probably damaging	Het
Abcb4	A	T	5: 9,008,441 (GRCm39)	D1203V	probably damaging	Het
Acat2	G	A	17: 13,178,979 (GRCm39)		probably benign	Het
Adam3	C	T	8: 25,179,484 (GRCm39)	C611Y	probably damaging	Het
Adgrb1	A	G	15: 74,415,189 (GRCm39)	D638G	probably damaging	Het
Adra1b	T	C	11: 43,667,218 (GRCm39)	N340D	probably damaging	Het
Ankrd31	A	G	13: 96,916,879 (GRCm39)	H131R	probably damaging	Het
Aoc2	T	C	11: 101,217,164 (GRCm39)	S416P	possibly damaging	Het
Armc8	G	A	9: 99,387,362 (GRCm39)	R419*	probably null	Het
Atp6v1h	T	G	1: 5,163,638 (GRCm39)	V90G	probably damaging	Het
Avl9	T	C	6: 56,707,628 (GRCm39)	V191A	probably benign	Het
Bsn	G	A	9: 107,990,173 (GRCm39)	P1860S	possibly damaging	Het
Btd	A	G	14: 31,384,233 (GRCm39)	K73R	probably benign	Het
Cd22	T	C	7: 30,567,391 (GRCm39)	K731R	probably benign	Het
Chmp7	C	A	14: 69,956,911 (GRCm39)	L332F	probably damaging	Het
Cirop	T	G	14: 54,932,686 (GRCm39)	S393R	probably damaging	Het
Cldn11	A	G	3: 31,217,276 (GRCm39)	E148G	probably damaging	Het
Cmtm1	TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG	TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG	8: 105,036,334 (GRCm39)		probably null	Het
Cnbd1	A	T	4: 18,886,061 (GRCm39)	Y319*	probably null	Het
Cnnm4	A	G	1: 36,511,170 (GRCm39)	T133A	probably benign	Het
Cpeb4	A	T	11: 31,822,679 (GRCm39)	E131V	probably benign	Het
Ctns	A	G	11: 73,078,561 (GRCm39)		probably null	Het
Dhx36	C	A	3: 62,414,142 (GRCm39)	Q73H	probably benign	Het
Dhx36	C	A	3: 62,414,141 (GRCm39)	E74*	probably null	Het
Dnah5	A	G	15: 28,420,107 (GRCm39)	T3802A		Het
Fbxo31	G	A	8: 122,281,136 (GRCm39)	R337C	probably damaging	Het
Flnc	C	T	6: 29,455,518 (GRCm39)	Q2056*	probably null	Het
Fmo9	T	C	1: 166,492,199 (GRCm39)	D408G	possibly damaging	Het
Gipr	C	T	7: 18,897,495 (GRCm39)	S117N	unknown	Het
Gm14412	T	A	2: 177,006,356 (GRCm39)	H513L	probably damaging	Het
Gm21663	G	C	5: 26,147,167 (GRCm39)	C46W	probably benign	Het
Gucy1a2	A	T	9: 3,634,489 (GRCm39)	I178L	probably benign	Het
Htr1b	A	T	9: 81,514,481 (GRCm39)	L42Q		Het
Htr2b	T	C	1: 86,027,481 (GRCm39)	T342A	probably damaging	Het
Jkampl	T	C	6: 73,446,517 (GRCm39)	T11A	probably benign	Het
Jph2	C	T	2: 163,181,473 (GRCm39)	V564M	probably damaging	Het
Kcnmb1	A	G	11: 33,914,806 (GRCm39)	T36A	probably damaging	Het
Krit1	A	C	5: 3,863,135 (GRCm39)	K310N	probably benign	Het
Lama1	C	T	17: 68,111,508 (GRCm39)	T2253M		Het
Lpar6	C	T	14: 73,476,233 (GRCm39)	L65F	probably damaging	Het
Megf6	G	A	4: 154,354,160 (GRCm39)	G1355R	probably damaging	Het
Mmp3	T	A	9: 7,446,936 (GRCm39)	Y39N	probably damaging	Het
Mrtfb	A	G	16: 13,221,053 (GRCm39)	H743R	probably benign	Het
Ms4a18	C	A	19: 10,990,741 (GRCm39)	V118F		Het
Mthfr	G	A	4: 148,126,082 (GRCm39)	S51N	probably benign	Het
Muc16	T	A	9: 18,554,975 (GRCm39)	T3773S	unknown	Het
Naaladl2	A	T	3: 24,487,344 (GRCm39)	D192E	probably benign	Het
Naip5	T	C	13: 100,366,127 (GRCm39)	D329G	possibly damaging	Het
Nek11	T	A	9: 105,170,856 (GRCm39)	H393L	probably benign	Het
Nmt2	T	A	2: 3,306,315 (GRCm39)		probably benign	Het
Nmur2	T	C	11: 55,920,408 (GRCm39)	D279G	possibly damaging	Het
Nol4l	C	A	2: 153,312,630 (GRCm39)	R226L	probably damaging	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,237,059 (GRCm39)		probably benign	Het
Or10d4c	A	G	9: 39,558,379 (GRCm39)	D119G	probably damaging	Het
Or1o2	T	C	17: 37,542,961 (GRCm39)	Y100C	probably benign	Het
Or5ak22	T	C	2: 85,229,995 (GRCm39)	N294S	probably damaging	Het
Palm	A	G	10: 79,654,988 (GRCm39)	T249A	probably benign	Het
Pramel22	A	T	4: 143,381,097 (GRCm39)	Y309N	probably benign	Het
Rhobtb3	A	G	13: 76,087,702 (GRCm39)	I95T	probably damaging	Het
Rnpep	A	T	1: 135,206,559 (GRCm39)	F178L	possibly damaging	Het
Rsl1d1	A	G	16: 11,019,227 (GRCm39)	S105P	probably damaging	Het
Rxra	C	T	2: 27,638,756 (GRCm39)	T253I	possibly damaging	Het
Schip1	A	G	3: 67,972,318 (GRCm39)	D15G		Het
Sis	T	A	3: 72,844,578 (GRCm39)	I719F	possibly damaging	Het
Snx18	A	G	13: 113,754,310 (GRCm39)	S208P	probably benign	Het
Srcap	T	C	7: 127,151,816 (GRCm39)	V2125A	probably damaging	Het
Stx7	C	T	10: 24,058,724 (GRCm39)	Q199*	probably null	Het
Syt6	T	C	3: 103,492,895 (GRCm39)	I134T	probably damaging	Het
Tlr12	A	G	4: 128,510,870 (GRCm39)	M460T	probably benign	Het
Tnni3k	T	C	3: 154,647,314 (GRCm39)	T398A	possibly damaging	Het
Tspan4	T	C	7: 141,071,816 (GRCm39)	S188P	probably benign	Het
Ubap2l	A	G	3: 89,909,756 (GRCm39)	S1025P	unknown	Het
Ubl7	A	G	9: 57,829,035 (GRCm39)	D219G	probably benign	Het
Vmn2r115	C	A	17: 23,564,803 (GRCm39)	T230K	probably benign	Het
Vmn2r95	T	A	17: 18,660,167 (GRCm39)	M193K	possibly damaging	Het
Zfp639	A	G	3: 32,573,885 (GRCm39)	E170G	probably damaging	Het
Zfy1	A	G	Y: 725,987 (GRCm39)	S593P	possibly damaging	Het
Zscan4-ps1	T	A	7: 10,799,495 (GRCm39)	T465S	probably damaging	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
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

Predicted Primers

PCR Primer
(F):5'- GGTAGGCTCTGAAGACTAAGC -3'
(R):5'- TAGTGGAAGAACATGGGTCTGTC -3'

Sequencing Primer
(F):5'- TTTCCCAGGCCTCAGTAGG -3'
(R):5'- ACATGGGTCTGTCCACAACCTTAG -3'

Posted On

2021-12-30