Incidental Mutation 'R2863:Mus81'
ID 253071
Institutional Source Beutler Lab
Gene Symbol Mus81
Ensembl Gene ENSMUSG00000024906
Gene Name MUS81 structure-specific endonuclease subunit
Synonyms 1200008A18Rik
MMRRC Submission 040453-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.316) question?
Stock # R2863 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 5532589-5538461 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 5536528 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Serine at position 146 (Y146S)
Ref Sequence ENSEMBL: ENSMUSP00000025841 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025841] [ENSMUST00000070118] [ENSMUST00000116560] [ENSMUST00000124334] [ENSMUST00000126471] [ENSMUST00000209469] [ENSMUST00000168330] [ENSMUST00000165485] [ENSMUST00000167371]
AlphaFold Q91ZJ0
Predicted Effect probably damaging
Transcript: ENSMUST00000025841
AA Change: Y146S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000025841
Gene: ENSMUSG00000024906
AA Change: Y146S

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 benign
Transcript: ENSMUST00000116560
SMART Domains Protein: ENSMUSP00000112259
Gene: ENSMUSG00000056201

DomainStartEndE-ValueType
ADF 19 154 5.3e-56 SMART
low complexity region 195 205 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000124334
AA Change: Y146S

PolyPhen 2 Score 0.843 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000114895
Gene: ENSMUSG00000024906
AA Change: Y146S

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 unknown
Transcript: ENSMUST00000133436
AA Change: Y110S
SMART Domains Protein: ENSMUSP00000118580
Gene: ENSMUSG00000024906
AA Change: Y110S

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 noncoding transcript
Transcript: ENSMUST00000147961
Predicted Effect probably benign
Transcript: ENSMUST00000209469
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149908
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146661
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144422
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140365
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151932
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154215
Predicted Effect probably benign
Transcript: ENSMUST00000168330
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: 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: 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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.7%
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Armh3 A T 19: 45,874,396 (GRCm39) N592K probably damaging Het
Bag5 T C 12: 111,677,029 (GRCm39) T265A probably benign Het
Bmper A G 9: 23,395,237 (GRCm39) N656S probably benign Het
Boc A G 16: 44,313,323 (GRCm39) S514P probably benign Het
Ddx6 G T 9: 44,525,553 (GRCm39) L103F probably damaging Het
Epb41l3 C T 17: 69,517,316 (GRCm39) P115S probably benign Het
Exoc6 T C 19: 37,641,861 (GRCm39) F709S probably benign Het
Fnip1 T C 11: 54,393,250 (GRCm39) I562T probably damaging Het
Fxr2 T A 11: 69,530,253 (GRCm39) I40N probably damaging Het
Ifna6 G C 4: 88,746,099 (GRCm39) R149S probably benign Het
Ifna6 C A 4: 88,746,086 (GRCm39) T145K probably benign Het
Ldb2 T C 5: 44,637,666 (GRCm39) Q214R probably damaging Het
Myh11 T C 16: 14,057,290 (GRCm39) I335V probably benign Het
Nid2 G A 14: 19,818,471 (GRCm39) E322K possibly damaging Het
Odad1 T C 7: 45,597,736 (GRCm39) S549P probably benign Het
Ofcc1 A T 13: 40,226,236 (GRCm39) S765R probably damaging Het
Ofcc1 T A 13: 40,241,414 (GRCm39) H698L possibly damaging Het
Or8b56 T A 9: 38,739,835 (GRCm39) F283I possibly damaging Het
Otog T G 7: 45,918,730 (GRCm39) C935W probably damaging Het
Pcdhga3 T C 18: 37,807,643 (GRCm39) V32A probably damaging Het
Phc3 C T 3: 30,968,277 (GRCm39) D920N probably damaging Het
Pou6f1 A G 15: 100,478,689 (GRCm39) probably null Het
Ppp4c A T 7: 126,391,272 (GRCm39) I20N probably damaging Het
Prkag2 T A 5: 25,226,790 (GRCm39) T156S probably benign Het
Psd T C 19: 46,303,201 (GRCm39) D95G probably damaging Het
Riox2 A G 16: 59,309,756 (GRCm39) D370G probably damaging Het
Spink14 T A 18: 44,163,948 (GRCm39) C39S probably damaging Het
Tdrd9 T C 12: 111,997,695 (GRCm39) V728A probably benign Het
Tgm2 T C 2: 157,985,019 (GRCm39) E29G probably benign Het
Wdr35 T A 12: 9,078,060 (GRCm39) Y1139* probably null Het
Wdr95 T A 5: 149,505,321 (GRCm39) C367* probably null Het
Zfp35 T A 18: 24,137,352 (GRCm39) D565E probably damaging 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
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'- CTCCTCTTTGGTTAGGAAGCTG -3'
(R):5'- TGGCCACCATCACATTCCAG -3'

Sequencing Primer
(F):5'- AGCTGTGGCCATCAGAATTC -3'
(R):5'- CACATTCCAGATTTACTAGGGCTTG -3'
Posted On 2014-12-04