Incidental Mutation 'R8355:Mus81'
ID 645747
Institutional Source Beutler Lab
Gene Symbol Mus81
Ensembl Gene ENSMUSG00000024906
Gene Name MUS81 structure-specific endonuclease subunit
Synonyms 1200008A18Rik
MMRRC Submission 067869-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.316) question?
Stock # R8355 (G1)
Quality Score 225.009
Status Not validated
Chromosome 19
Chromosomal Location 5532589-5538461 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 5534220 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 366 (Y366C)
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 damaging
Transcript: ENSMUST00000025841
AA Change: Y366C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000025841
Gene: ENSMUSG00000024906
AA Change: Y366C

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000124334
AA Change: Y366C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000114895
Gene: ENSMUSG00000024906
AA Change: Y366C

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
PDB:2KP7|A 11 72 8e-21 PDB
Predicted Effect
SMART Domains Protein: ENSMUSP00000118580
Gene: ENSMUSG00000024906
AA Change: Y330C

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Pfam:EGF_CA 37 69 5.4e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000164388
SMART Domains Protein: ENSMUSP00000131979
Gene: ENSMUSG00000024909

DomainStartEndE-ValueType
EGF 4 35 1.59e1 SMART
EGF 39 81 1.95e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000165485
SMART Domains Protein: ENSMUSP00000133016
Gene: ENSMUSG00000024909

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: 98.6%
Validation Efficiency
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp3 A G 9: 104,204,174 (GRCm39) V40A possibly damaging Het
Adgra1 T A 7: 139,455,567 (GRCm39) C398* probably null Het
Amy2a1 T A 3: 113,324,045 (GRCm39) D165V probably benign Het
Atf6b A G 17: 34,867,197 (GRCm39) D63G probably benign Het
BC024139 T C 15: 76,004,007 (GRCm39) D753G probably benign Het
Dnah3 T G 7: 119,551,431 (GRCm39) T2963P probably damaging Het
Fanci G T 7: 79,085,029 (GRCm39) L818F probably damaging Het
Gm40460 CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG 7: 141,794,554 (GRCm39) probably benign Het
Gm4559 C A 7: 141,827,694 (GRCm39) C136F unknown Het
Gm45844 G A 7: 7,281,221 (GRCm39) probably benign Het
Kmt2c T A 5: 25,559,499 (GRCm39) probably null Het
Lpo G A 11: 87,705,114 (GRCm39) L407F probably damaging Het
Nipbl T C 15: 8,364,528 (GRCm39) D1292G probably damaging Het
Nox3 A G 17: 3,736,198 (GRCm39) S143P probably damaging Het
Npepps A T 11: 97,132,800 (GRCm39) I309N probably damaging Het
Nufip2 C T 11: 77,583,259 (GRCm39) T391I probably damaging Het
Or5g25 T A 2: 85,478,485 (GRCm39) Y60F probably damaging Het
Or7e177 A G 9: 20,211,715 (GRCm39) Y74C probably damaging Het
Piezo2 A T 18: 63,224,069 (GRCm39) V935E probably damaging Het
Rusc2 A G 4: 43,422,846 (GRCm39) I994M probably benign Het
Sgcz T C 8: 38,190,239 (GRCm39) I96V probably benign Het
Tmem108 A G 9: 103,377,069 (GRCm39) S127P possibly damaging Het
Tmem178b G A 6: 40,231,869 (GRCm39) V168I unknown Het
Tut1 T C 19: 8,936,626 (GRCm39) V150A probably benign Het
Txnl4a T A 18: 80,250,539 (GRCm39) L45Q probably damaging Het
V1ra8 C T 6: 90,180,447 (GRCm39) R217W probably damaging Het
Vmn2r95 A G 17: 18,660,352 (GRCm39) T255A probably benign Het
Zfp605 A G 5: 110,259,848 (GRCm39) probably benign Het
Other mutations in Mus81
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- AGCCATCAATGACCTGGAGAAG -3'
(R):5'- TACAGGACCAGAGCCTAGTGTG -3'

Sequencing Primer
(F):5'- CCATCAATGACCTGGAGAAGAAGAC -3'
(R):5'- ATTTCTGAGTTCCAGGACAGCCAG -3'
Posted On 2020-09-02