Incidental Mutation 'R2223:Emsy'
ID 241615
Institutional Source Beutler Lab
Gene Symbol Emsy
Ensembl Gene ENSMUSG00000035401
Gene Name EMSY, BRCA2-interacting transcriptional repressor
Synonyms 2210018M11Rik
MMRRC Submission 040224-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.520) question?
Stock # R2223 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 98236344-98305990 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 98239982 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 1091 (E1091G)
Ref Sequence ENSEMBL: ENSMUSP00000038216 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038359] [ENSMUST00000205276] [ENSMUST00000205886] [ENSMUST00000205911]
AlphaFold Q8BMB0
Predicted Effect possibly damaging
Transcript: ENSMUST00000038359
AA Change: E1091G

PolyPhen 2 Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000038216
Gene: ENSMUSG00000035401
AA Change: E1091G

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: E1237G

PolyPhen 2 Score 0.823 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205331
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205513
Predicted Effect probably benign
Transcript: ENSMUST00000205886
Predicted Effect unknown
Transcript: ENSMUST00000205911
AA Change: E1043G
Meta Mutation Damage Score 0.1065 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency 100% (59/59)
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd18 A G 3: 40,889,296 (GRCm39) probably benign Het
Acvr1b C T 15: 101,100,924 (GRCm39) A362V probably benign Het
Adamts5 A C 16: 85,696,194 (GRCm39) L321R probably damaging Het
Adamtsl1 A C 4: 86,306,762 (GRCm39) D1392A probably benign Het
Afdn T C 17: 14,103,999 (GRCm39) probably benign Het
Aph1b A T 9: 66,691,921 (GRCm39) M121K probably damaging Het
Aspg G A 12: 112,080,868 (GRCm39) A120T probably damaging Het
Atp8b1 T A 18: 64,697,428 (GRCm39) N472I possibly damaging Het
B4galt3 C A 1: 171,101,613 (GRCm39) H196N probably damaging Het
Cdcp3 A T 7: 130,849,186 (GRCm39) probably null Het
Cfd A T 10: 79,728,039 (GRCm39) probably null Het
Cntnap5b A G 1: 100,141,412 (GRCm39) E242G probably damaging Het
Col9a2 C G 4: 120,911,455 (GRCm39) R599G probably damaging Het
Cradd A C 10: 95,011,735 (GRCm39) V135G probably benign Het
Cry1 A G 10: 84,979,617 (GRCm39) C460R probably damaging Het
Cryz A T 3: 154,324,191 (GRCm39) N192I possibly damaging Het
Cyp2d11 T A 15: 82,274,332 (GRCm39) M350L probably benign Het
Exoc3l4 C G 12: 111,392,586 (GRCm39) A471G possibly damaging Het
Fam184a G A 10: 53,531,175 (GRCm39) T733M probably damaging Het
Fmo2 C T 1: 162,725,813 (GRCm39) C21Y probably damaging Het
Glul T A 1: 153,782,243 (GRCm39) probably null Het
Gm5174 T A 10: 86,492,372 (GRCm39) noncoding transcript Het
Gtpbp2 A G 17: 46,478,153 (GRCm39) I434V probably benign Het
Kctd10 G T 5: 114,505,410 (GRCm39) R195S probably benign Het
Lrrc38 T A 4: 143,096,419 (GRCm39) C243* probably null Het
Luc7l2 T C 6: 38,542,659 (GRCm39) probably benign Het
Magi2 T A 5: 20,670,670 (GRCm39) V111D probably damaging Het
Map3k5 T C 10: 19,943,666 (GRCm39) V590A possibly damaging Het
Megf11 G A 9: 64,567,713 (GRCm39) G401S possibly damaging Het
Mgat4d G A 8: 84,082,301 (GRCm39) probably benign Het
Mroh1 T C 15: 76,292,245 (GRCm39) probably null Het
Mx1 T C 16: 97,256,432 (GRCm39) probably benign Het
Nlrp1b A G 11: 71,046,815 (GRCm39) probably benign Het
Ntrk3 T C 7: 77,848,600 (GRCm39) I759V probably damaging Het
Or6c210 T A 10: 129,495,678 (GRCm39) M1K probably null Het
Pde8b T C 13: 95,179,955 (GRCm39) N318S probably damaging Het
Pkd1l1 T C 11: 8,839,063 (GRCm39) T874A probably benign Het
Pkd1l1 T C 11: 8,900,422 (GRCm39) T40A probably benign Het
Prdm2 T C 4: 142,861,469 (GRCm39) N607S possibly damaging Het
Ptprn A T 1: 75,234,581 (GRCm39) probably benign Het
Setx T G 2: 29,038,549 (GRCm39) I1678S possibly damaging Het
Setx GTGGCT GT 2: 29,044,073 (GRCm39) 1814 probably null Het
Snap91 T C 9: 86,674,580 (GRCm39) T544A possibly damaging Het
Sp8 G A 12: 118,813,473 (GRCm39) G443S probably damaging Het
Stk39 C T 2: 68,144,923 (GRCm39) G384S probably damaging Het
Sva T A 6: 42,015,357 (GRCm39) M1K probably null Het
Trip10 A G 17: 57,570,039 (GRCm39) D568G possibly damaging Het
Trpa1 A T 1: 14,973,480 (GRCm39) F279L probably null Het
Ttc39b T C 4: 83,150,999 (GRCm39) N532S probably benign Het
Ube2w A G 1: 16,668,183 (GRCm39) S97P possibly damaging Het
Uvssa C T 5: 33,549,407 (GRCm39) T356I probably damaging Het
Vmn1r25 A C 6: 57,956,223 (GRCm39) L22R probably damaging Het
Vmn2r112 T G 17: 22,820,214 (GRCm39) M29R possibly damaging Het
Vmn2r71 T A 7: 85,273,301 (GRCm39) M705K probably benign Het
Zfp516 C A 18: 82,973,895 (GRCm39) A31D 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
R1791:Emsy UTSW 7 98,297,087 (GRCm39) missense probably damaging 0.99
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
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'- TAGGTCCCCAGCCTAAATATGAGC -3'
(R):5'- GAAGGACACAGTCTCCTCTTGG -3'

Sequencing Primer
(F):5'- CAGCCTAAATATGAGCAAAGTGC -3'
(R):5'- TGGCTTTTCCACTATAAACATTCTC -3'
Posted On 2014-10-15