Incidental Mutation 'R1791:Emsy'
ID 201725
Institutional Source Beutler Lab
Gene Symbol Emsy
Ensembl Gene ENSMUSG00000035401
Gene Name EMSY, BRCA2-interacting transcriptional repressor
Synonyms 2210018M11Rik
MMRRC Submission 039821-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.520) question?
Stock # R1791 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 98236344-98305990 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 98297087 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 32 (I32T)
Ref Sequence ENSEMBL: ENSMUSP00000146150 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038359] [ENSMUST00000205276] [ENSMUST00000205911] [ENSMUST00000206611] [ENSMUST00000206619]
AlphaFold Q8BMB0
Predicted Effect possibly damaging
Transcript: ENSMUST00000038359
AA Change: I32T

PolyPhen 2 Score 0.882 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000038216
Gene: ENSMUSG00000035401
AA Change: I32T

DomainStartEndE-ValueType
ENT 16 88 2.44e-29 SMART
low complexity region 94 104 N/A INTRINSIC
low complexity region 124 142 N/A INTRINSIC
low complexity region 226 248 N/A INTRINSIC
low complexity region 293 331 N/A INTRINSIC
low complexity region 363 406 N/A INTRINSIC
low complexity region 527 540 N/A INTRINSIC
low complexity region 542 557 N/A INTRINSIC
low complexity region 681 698 N/A INTRINSIC
low complexity region 807 816 N/A INTRINSIC
low complexity region 866 882 N/A INTRINSIC
low complexity region 893 909 N/A INTRINSIC
low complexity region 1197 1208 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000205276
AA Change: I32T

PolyPhen 2 Score 0.882 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000205911
AA Change: I32T

PolyPhen 2 Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)
Predicted Effect probably benign
Transcript: ENSMUST00000206256
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206565
Predicted Effect possibly damaging
Transcript: ENSMUST00000206611
AA Change: I32T

PolyPhen 2 Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect probably damaging
Transcript: ENSMUST00000206619
AA Change: I32T

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
Meta Mutation Damage Score 0.4572 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.0%
  • 20x: 91.6%
Validation Efficiency 95% (104/110)
Allele List at MGI
Other mutations in this stock
Total: 104 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m C A 6: 121,631,571 (GRCm39) L623M probably benign Het
Adrm1b T A 3: 92,335,538 (GRCm39) D388V probably damaging Het
Akap13 T G 7: 75,260,783 (GRCm39) C333G probably benign Het
Akap6 T C 12: 53,115,908 (GRCm39) S1004P probably damaging Het
Akap7 T C 10: 25,115,583 (GRCm39) T181A probably benign Het
Ap3b1 A G 13: 94,545,305 (GRCm39) E186G possibly damaging Het
Arhgap17 T C 7: 122,885,925 (GRCm39) T736A probably benign Het
Bltp3a T A 17: 28,113,720 (GRCm39) D1297E probably damaging Het
Bmp8a G T 4: 123,218,378 (GRCm39) R214S possibly damaging Het
Cacna1f T C X: 7,486,678 (GRCm39) S890P probably damaging Het
Cd96 A T 16: 45,938,362 (GRCm39) Y34* probably null Het
Cdc42ep4 A G 11: 113,620,163 (GRCm39) L76P probably damaging Het
Cdh23 A G 10: 60,227,505 (GRCm39) V1195A possibly damaging Het
Cfap57 G A 4: 118,428,921 (GRCm39) T1015M possibly damaging Het
Chrm3 C A 13: 9,927,452 (GRCm39) G528V probably damaging Het
Cimap1c A T 9: 56,759,027 (GRCm39) F43I possibly damaging Het
Clip4 T C 17: 72,108,937 (GRCm39) probably benign Het
Col9a1 A T 1: 24,224,386 (GRCm39) R189S unknown Het
Cul4b A T X: 37,636,728 (GRCm39) I481N probably damaging Het
Cyp26b1 A G 6: 84,561,441 (GRCm39) S74P probably benign Het
Cyp3a57 A G 5: 145,307,820 (GRCm39) N192S probably benign Het
Dcbld1 A G 10: 52,195,572 (GRCm39) D260G probably damaging Het
Dhrs7 T C 12: 72,699,939 (GRCm39) N231S probably benign Het
Disp3 G A 4: 148,325,975 (GRCm39) P1261L probably damaging Het
Dnaaf4 T C 9: 72,867,966 (GRCm39) Y76H possibly damaging Het
Eml5 C A 12: 98,853,315 (GRCm39) V95F probably benign Het
Esr1 A G 10: 4,733,913 (GRCm39) R238G probably damaging Het
Exosc1 T C 19: 41,916,524 (GRCm39) K84R probably benign Het
F830016B08Rik T A 18: 60,433,589 (GRCm39) V224E probably benign Het
Fam228a T A 12: 4,782,748 (GRCm39) N115I probably damaging Het
Farp1 T C 14: 121,494,157 (GRCm39) I546T probably damaging Het
Fbxo30 T A 10: 11,165,531 (GRCm39) C84* probably null Het
Fbxw17 A G 13: 50,579,810 (GRCm39) probably benign Het
Foxo4 G C X: 100,302,069 (GRCm39) R192P probably benign Het
Galnt7 G T 8: 57,995,564 (GRCm39) T377K probably benign Het
Garnl3 T C 2: 32,924,139 (GRCm39) I248V probably benign Het
Glod4 A G 11: 76,128,534 (GRCm39) Y104H probably damaging Het
Glrb T C 3: 80,767,482 (GRCm39) Y246C probably damaging Het
Gm5292 A G 5: 44,101,752 (GRCm39) noncoding transcript Het
Gm5424 C A 10: 61,908,086 (GRCm39) noncoding transcript Het
Gm7276 C T 18: 77,273,431 (GRCm39) probably benign Het
Golga5 A G 12: 102,458,390 (GRCm39) N611S possibly damaging Het
Gucy2c A C 6: 136,721,025 (GRCm39) Y391D probably damaging Het
H6pd A G 4: 150,066,130 (GRCm39) I760T probably damaging Het
Hapln2 T A 3: 87,931,712 (GRCm39) I5F possibly damaging Het
Hdac11 G T 6: 91,145,806 (GRCm39) V169L probably benign Het
Hectd2 T C 19: 36,586,816 (GRCm39) V557A possibly damaging Het
Huwe1 T A X: 150,647,749 (GRCm39) N747K probably benign Het
Ints1 A G 5: 139,760,277 (GRCm39) S66P probably benign Het
Ipo7 A G 7: 109,626,339 (GRCm39) D49G probably damaging Het
Itgb4 G A 11: 115,879,346 (GRCm39) C575Y probably damaging Het
Klhl3 A G 13: 58,181,044 (GRCm39) V250A possibly damaging Het
Klk1b24 A G 7: 43,839,852 (GRCm39) probably null Het
Map3k11 T A 19: 5,745,600 (GRCm39) Y333* probably null Het
Mbp A G 18: 82,572,474 (GRCm39) T57A probably benign Het
Myh9 A G 15: 77,657,464 (GRCm39) probably benign Het
Mypn C T 10: 62,961,472 (GRCm39) R1040Q probably damaging Het
Ncdn A G 4: 126,645,732 (GRCm39) probably null Het
Ndn C T 7: 61,998,256 (GRCm39) P34L probably benign Het
Or10ab5 T A 7: 108,245,571 (GRCm39) T71S probably benign Het
Or11h4 AGGGATTGGG AGGGATTGGGATTGGG 14: 50,974,144 (GRCm39) probably benign Het
Or4k15c A G 14: 50,321,499 (GRCm39) F213S probably benign Het
Or51b6b T C 7: 103,310,005 (GRCm39) probably null Het
Or51f1 G A 7: 102,505,569 (GRCm39) Q307* probably null Het
Or8d2 T A 9: 38,759,901 (GRCm39) S164T possibly damaging Het
Pbx3 T C 2: 34,114,464 (GRCm39) T82A possibly damaging Het
Pi15 T C 1: 17,672,945 (GRCm39) F48S probably benign Het
Pkhd1 A G 1: 20,655,376 (GRCm39) probably benign Het
Ppard C G 17: 28,505,348 (GRCm39) R12G unknown Het
Prrc2c G T 1: 162,532,551 (GRCm39) probably benign Het
Prune1 A G 3: 95,175,553 (GRCm39) Y41H possibly damaging Het
Rcsd1 T C 1: 165,483,541 (GRCm39) D150G probably damaging Het
Rgs12 A T 5: 35,123,456 (GRCm39) Q413L possibly damaging Het
Rhox2h A G X: 36,850,848 (GRCm39) Y185H probably damaging Het
Rnf17 T A 14: 56,741,464 (GRCm39) C1306* probably null Het
Ros1 T A 10: 51,976,183 (GRCm39) M1499L probably benign Het
Rubcnl T C 14: 75,284,989 (GRCm39) S503P probably damaging Het
Sap18b A T 8: 96,552,342 (GRCm39) R117S probably benign Het
Shank2 A G 7: 143,964,336 (GRCm39) E858G probably damaging Het
Shtn1 T C 19: 59,020,632 (GRCm39) R197G probably damaging Het
Slamf8 G A 1: 172,412,087 (GRCm39) R163* probably null Het
Slc6a3 T C 13: 73,714,411 (GRCm39) I392T possibly damaging Het
Sp140 C T 1: 85,547,772 (GRCm39) probably benign Het
Sp8 T C 12: 118,812,751 (GRCm39) V202A possibly damaging Het
Spata13 T C 14: 60,946,908 (GRCm39) V652A probably damaging Het
Stpg2 A T 3: 139,023,162 (GRCm39) T393S probably benign Het
Tagap T C 17: 8,150,299 (GRCm39) M228T probably damaging Het
Tagap A G 17: 8,152,377 (GRCm39) T521A probably benign Het
Tas2r123 T G 6: 132,824,528 (GRCm39) S142A probably damaging Het
Tat T A 8: 110,718,261 (GRCm39) S49T probably benign Het
Tfap4 G T 16: 4,369,933 (GRCm39) Q41K possibly damaging Het
Thbs2 T C 17: 14,906,075 (GRCm39) N275S probably benign Het
Tnfsf14 T A 17: 57,497,867 (GRCm39) R122W probably damaging Het
Tnrc6a T C 7: 122,792,140 (GRCm39) V1886A possibly damaging Het
Trim56 G A 5: 137,143,252 (GRCm39) A88V probably damaging Het
Trio A G 15: 27,841,842 (GRCm39) Y1081H probably damaging Het
Tspear T A 10: 77,706,253 (GRCm39) L341H possibly damaging Het
Ube2o G A 11: 116,432,320 (GRCm39) T882I probably benign Het
Upk3a A G 15: 84,904,815 (GRCm39) T188A possibly damaging Het
Vmn1r79 A C 7: 11,910,358 (GRCm39) D80A probably damaging Het
Wls C A 3: 159,617,450 (GRCm39) T375K probably benign Het
Wnt5a T C 14: 28,233,835 (GRCm39) M1T probably null Het
Zcchc4 A G 5: 52,953,932 (GRCm39) E204G probably damaging Het
Zfp513 G A 5: 31,357,678 (GRCm39) P232S possibly damaging Het
Other mutations in Emsy
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01314:Emsy APN 7 98,242,662 (GRCm39) missense probably benign 0.09
IGL01357:Emsy APN 7 98,240,077 (GRCm39) nonsense probably null
IGL01620:Emsy APN 7 98,275,831 (GRCm39) missense probably damaging 1.00
IGL01750:Emsy APN 7 98,268,508 (GRCm39) missense probably damaging 0.99
IGL02032:Emsy APN 7 98,239,987 (GRCm39) missense possibly damaging 0.94
IGL02388:Emsy APN 7 98,290,873 (GRCm39) missense probably damaging 0.99
IGL03089:Emsy APN 7 98,286,473 (GRCm39) nonsense probably null
IGL03272:Emsy APN 7 98,242,969 (GRCm39) missense probably damaging 0.98
IGL03347:Emsy APN 7 98,259,892 (GRCm39) missense probably damaging 0.99
IGL03400:Emsy APN 7 98,251,933 (GRCm39) missense possibly damaging 0.94
IGL02980:Emsy UTSW 7 98,268,587 (GRCm39) missense probably damaging 0.97
R0576:Emsy UTSW 7 98,242,983 (GRCm39) missense probably damaging 0.99
R1102:Emsy UTSW 7 98,251,796 (GRCm39) missense probably damaging 0.97
R1323:Emsy UTSW 7 98,259,864 (GRCm39) splice site probably benign
R1438:Emsy UTSW 7 98,270,613 (GRCm39) missense possibly damaging 0.88
R1439:Emsy UTSW 7 98,250,048 (GRCm39) intron probably benign
R1452:Emsy UTSW 7 98,249,881 (GRCm39) missense probably damaging 0.96
R1515:Emsy UTSW 7 98,240,063 (GRCm39) missense probably damaging 1.00
R1535:Emsy UTSW 7 98,242,944 (GRCm39) missense possibly damaging 0.94
R1829:Emsy UTSW 7 98,251,937 (GRCm39) missense possibly damaging 0.88
R1829:Emsy UTSW 7 98,251,936 (GRCm39) missense possibly damaging 0.95
R1848:Emsy UTSW 7 98,250,028 (GRCm39) missense probably damaging 0.99
R1861:Emsy UTSW 7 98,290,822 (GRCm39) missense probably damaging 1.00
R1929:Emsy UTSW 7 98,275,830 (GRCm39) missense probably damaging 0.99
R1957:Emsy UTSW 7 98,297,027 (GRCm39) missense probably damaging 1.00
R2221:Emsy UTSW 7 98,239,982 (GRCm39) missense possibly damaging 0.83
R2223:Emsy UTSW 7 98,239,982 (GRCm39) missense possibly damaging 0.83
R2271:Emsy UTSW 7 98,275,830 (GRCm39) missense probably damaging 0.99
R4078:Emsy UTSW 7 98,239,932 (GRCm39) missense probably damaging 0.99
R4707:Emsy UTSW 7 98,246,311 (GRCm39) missense possibly damaging 0.94
R4783:Emsy UTSW 7 98,295,686 (GRCm39) missense possibly damaging 0.74
R5453:Emsy UTSW 7 98,250,013 (GRCm39) missense probably damaging 0.97
R5518:Emsy UTSW 7 98,242,818 (GRCm39) missense possibly damaging 0.86
R5828:Emsy UTSW 7 98,242,699 (GRCm39) missense probably benign
R5945:Emsy UTSW 7 98,268,590 (GRCm39) missense probably damaging 0.97
R6153:Emsy UTSW 7 98,260,060 (GRCm39) missense probably damaging 1.00
R6824:Emsy UTSW 7 98,242,614 (GRCm39) missense probably benign 0.27
R7068:Emsy UTSW 7 98,259,968 (GRCm39) missense probably benign 0.17
R7381:Emsy UTSW 7 98,240,010 (GRCm39) missense probably damaging 0.98
R7417:Emsy UTSW 7 98,264,693 (GRCm39) missense probably damaging 1.00
R7488:Emsy UTSW 7 98,264,762 (GRCm39) missense possibly damaging 0.94
R7499:Emsy UTSW 7 98,279,538 (GRCm39) missense possibly damaging 0.59
R7646:Emsy UTSW 7 98,268,560 (GRCm39) missense probably damaging 1.00
R7682:Emsy UTSW 7 98,239,905 (GRCm39) missense probably damaging 0.99
R7716:Emsy UTSW 7 98,248,973 (GRCm39) missense unknown
R7789:Emsy UTSW 7 98,270,696 (GRCm39) missense probably damaging 1.00
R7794:Emsy UTSW 7 98,249,931 (GRCm39) missense probably benign 0.30
R7832:Emsy UTSW 7 98,289,060 (GRCm39) missense probably damaging 1.00
R7974:Emsy UTSW 7 98,279,425 (GRCm39) missense possibly damaging 0.73
R7996:Emsy UTSW 7 98,242,888 (GRCm39) missense probably benign 0.00
R8070:Emsy UTSW 7 98,275,922 (GRCm39) missense possibly damaging 0.73
R8221:Emsy UTSW 7 98,297,111 (GRCm39) missense probably damaging 1.00
R8472:Emsy UTSW 7 98,304,037 (GRCm39) start gained probably benign
R8841:Emsy UTSW 7 98,264,768 (GRCm39) missense possibly damaging 0.95
R8998:Emsy UTSW 7 98,268,512 (GRCm39) missense possibly damaging 0.63
R9063:Emsy UTSW 7 98,295,684 (GRCm39) missense probably damaging 0.96
R9259:Emsy UTSW 7 98,242,757 (GRCm39) missense probably benign
R9366:Emsy UTSW 7 98,290,860 (GRCm39) missense probably benign 0.23
R9660:Emsy UTSW 7 98,262,285 (GRCm39) missense possibly damaging 0.95
R9729:Emsy UTSW 7 98,262,256 (GRCm39) missense probably benign 0.01
X0067:Emsy UTSW 7 98,279,447 (GRCm39) missense possibly damaging 0.65
Z1088:Emsy UTSW 7 98,249,929 (GRCm39) missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- AGGGCCTCTAAGTACCCAAC -3'
(R):5'- GGCCTCCATGAGACATTTTATAAC -3'

Sequencing Primer
(F):5'- TCTAAGTACCCAACAAACTGTTCTTC -3'
(R):5'- GGGATTTCTTGCTCTAAATCT -3'
Posted On 2014-06-23