Incidental Mutation 'IGL02120:Mus81'
ID280578
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mus81
Ensembl Gene ENSMUSG00000024906
Gene NameMUS81 structure-specific endonuclease subunit
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.385) question?
Stock #IGL02120
Quality Score
Status
Chromosome19
Chromosomal Location5482345-5488402 bp(-) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) G to A at 5485633 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000147514 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025841] [ENSMUST00000070118] [ENSMUST00000116560] [ENSMUST00000124334] [ENSMUST00000126471] [ENSMUST00000165485] [ENSMUST00000166253] [ENSMUST00000167371] [ENSMUST00000168330] [ENSMUST00000209469]
Predicted Effect probably benign
Transcript: ENSMUST00000025841
SMART Domains Protein: ENSMUSP00000025841
Gene: ENSMUSG00000024906

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 probably benign
Transcript: ENSMUST00000124334
SMART Domains Protein: ENSMUSP00000114895
Gene: ENSMUSG00000024906

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 probably benign
Transcript: ENSMUST00000133436
SMART Domains Protein: ENSMUSP00000118580
Gene: ENSMUSG00000024906

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: ENSMUST00000140365
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144422
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146661
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147961
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149908
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151932
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154215
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: ENSMUST00000168330
Predicted Effect probably benign
Transcript: ENSMUST00000209469
Coding Region Coverage
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012P22Rik C T 4: 144,418,411 R195H probably benign Het
Abcb11 T C 2: 69,257,310 Y1037C probably damaging Het
Aldh16a1 G A 7: 45,146,035 P400L probably damaging Het
Ankrd33b T C 15: 31,367,056 T113A possibly damaging Het
Aox3 T A 1: 58,127,650 N177K probably benign Het
Arhgap29 T A 3: 122,004,257 V532E probably benign Het
Brd8 C T 18: 34,602,727 S899N probably damaging Het
Caskin1 G T 17: 24,500,942 G401V probably damaging Het
Cemip A T 7: 83,951,563 M950K probably damaging Het
Chrd T C 16: 20,734,541 V211A probably damaging Het
Ckap2l T C 2: 129,285,622 N212S possibly damaging Het
Clip1 T C 5: 123,647,883 D246G probably damaging Het
Dlst T C 12: 85,118,568 S82P probably benign Het
Dmxl1 T A 18: 49,894,178 L2118M possibly damaging Het
Dnah7a T C 1: 53,495,717 K2795E possibly damaging Het
Enpp5 T A 17: 44,080,845 M55K probably benign Het
Epdr1 A T 13: 19,594,471 S50T probably damaging Het
Gm6169 G T 13: 97,098,777 probably benign Het
Gm7808 T A 9: 19,928,017 probably benign Het
Huwe1 T A X: 151,907,390 F2485I possibly damaging Het
Kcnb2 C T 1: 15,709,861 T319M probably damaging Het
Lama1 G A 17: 67,716,789 V60M probably damaging Het
Lingo3 A T 10: 80,835,859 L79Q probably damaging Het
Magi2 T A 5: 20,228,453 probably null Het
Mob2 C A 7: 142,010,298 V33L possibly damaging Het
Nup210l G A 3: 90,136,862 G490D probably damaging Het
Olfr702 A C 7: 106,823,698 V276G possibly damaging Het
Pbp2 A G 6: 135,309,818 V177A probably damaging Het
Pomt2 T C 12: 87,111,552 D656G probably benign Het
Ppp2r1b A G 9: 50,861,769 probably benign Het
Ptprq T C 10: 107,667,472 E775G probably damaging Het
Rad54l T C 4: 116,098,984 I549V probably benign Het
Ranbp10 T C 8: 105,805,582 Y145C probably damaging Het
Runx1t1 A T 4: 13,846,884 T223S probably benign Het
Stxbp6 G T 12: 44,902,048 probably benign Het
Syne2 A G 12: 75,946,706 D2085G probably damaging Het
Szt2 C T 4: 118,388,564 R1064Q probably benign Het
Taar3 A G 10: 23,950,167 T204A probably benign Het
Tdpoz1 A G 3: 93,670,443 S345P probably damaging Het
Tgm4 T A 9: 123,046,529 I149N probably damaging Het
Tubal3 T A 13: 3,930,675 I129N probably damaging Het
Vegfc T C 8: 54,181,401 F372L possibly damaging Het
Vmn2r9 G A 5: 108,843,636 L620F probably damaging Het
Vwf C A 6: 125,616,034 L786M probably benign Het
Other mutations in Mus81
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03140:Mus81 APN 19 5483956 missense probably damaging 1.00
IGL03370:Mus81 APN 19 5484963 unclassified probably benign
city UTSW 19 5487793 missense probably benign 0.30
country UTSW 19 5484211 missense probably damaging 1.00
R0116:Mus81 UTSW 19 5486524 missense probably damaging 1.00
R0480:Mus81 UTSW 19 5487931 unclassified probably benign
R1243:Mus81 UTSW 19 5485117 missense probably benign
R1439:Mus81 UTSW 19 5485117 missense probably benign
R1477:Mus81 UTSW 19 5486334 missense probably benign 0.00
R1795:Mus81 UTSW 19 5483476 missense probably benign 0.00
R2346:Mus81 UTSW 19 5484963 unclassified probably benign
R2863:Mus81 UTSW 19 5486500 missense probably damaging 1.00
R3785:Mus81 UTSW 19 5485361 unclassified probably benign
R5312:Mus81 UTSW 19 5483494 missense possibly damaging 0.79
R5489:Mus81 UTSW 19 5487889 unclassified probably benign
R6037:Mus81 UTSW 19 5484004 missense probably damaging 1.00
R6037:Mus81 UTSW 19 5484004 missense probably damaging 1.00
R6970:Mus81 UTSW 19 5485526 missense probably benign 0.45
R7037:Mus81 UTSW 19 5486080 missense probably damaging 1.00
R7060:Mus81 UTSW 19 5487793 missense probably benign 0.30
R7100:Mus81 UTSW 19 5484211 missense probably damaging 1.00
Posted On2015-04-16