Incidental Mutation 'R7068:Emsy'
ID 548685
Institutional Source Beutler Lab
Gene Symbol Emsy
Ensembl Gene ENSMUSG00000035401
Gene Name EMSY, BRCA2-interacting transcriptional repressor
Synonyms 2210018M11Rik
MMRRC Submission 045164-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.520) question?
Stock # R7068 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 98236344-98305990 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 98259968 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 39 (D39E)
Ref Sequence ENSEMBL: ENSMUSP00000145662 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038359] [ENSMUST00000205276] [ENSMUST00000205886] [ENSMUST00000205911] [ENSMUST00000206619] [ENSMUST00000206626]
AlphaFold Q8BMB0
Predicted Effect unknown
Transcript: ENSMUST00000038359
AA Change: D664E
SMART Domains Protein: ENSMUSP00000038216
Gene: ENSMUSG00000035401
AA Change: D664E

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 probably benign
Transcript: ENSMUST00000205276
AA Change: D664E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000205886
AA Change: D39E

PolyPhen 2 Score 0.174 (Sensitivity: 0.92; Specificity: 0.87)
Predicted Effect probably benign
Transcript: ENSMUST00000205911
AA Change: D625E

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
Predicted Effect probably benign
Transcript: ENSMUST00000206619
AA Change: D650E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000206626
AA Change: D114E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm1 A G 7: 119,221,803 (GRCm39) H24R probably benign Het
Ago2 A T 15: 73,018,299 (GRCm39) F46L probably damaging Het
Amd1 A G 10: 40,166,508 (GRCm39) F123L probably benign Het
Arhgef10 T C 8: 15,008,639 (GRCm39) F546L probably damaging Het
Asic2 G A 11: 81,043,081 (GRCm39) H71Y probably benign Het
Asphd1 A G 7: 126,547,850 (GRCm39) V151A probably benign Het
Best3 T C 10: 116,824,543 (GRCm39) V3A probably damaging Het
C4b A G 17: 34,952,451 (GRCm39) L1196P probably damaging Het
Cd22 A G 7: 30,577,504 (GRCm39) V3A probably benign Het
Cdkl3 T C 11: 51,902,154 (GRCm39) probably null Het
Clcnka A T 4: 141,114,421 (GRCm39) V631E probably damaging Het
Cmya5 A G 13: 93,229,205 (GRCm39) V1961A possibly damaging Het
Dnah14 A G 1: 181,597,355 (GRCm39) E3559G probably benign Het
Fbxl16 G T 17: 26,038,485 (GRCm39) V477F possibly damaging Het
Flt1 A T 5: 147,610,444 (GRCm39) I393N probably damaging Het
Gabra4 A T 5: 71,729,402 (GRCm39) N433K probably benign Het
Gatad1 T C 5: 3,693,540 (GRCm39) R210G probably benign Het
Ghsr T A 3: 27,425,986 (GRCm39) V14D probably benign Het
Glb1l A G 1: 75,179,381 (GRCm39) Y183H probably damaging Het
Hycc1 A G 5: 24,169,793 (GRCm39) S519P possibly damaging Het
Ighv3-4 T C 12: 114,217,274 (GRCm39) T106A probably damaging Het
Ik T G 18: 36,888,518 (GRCm39) F439V possibly damaging Het
Itih5 T C 2: 10,254,115 (GRCm39) S789P probably damaging Het
Kcnj8 T C 6: 142,511,965 (GRCm39) D214G probably damaging Het
Kdm5a C A 6: 120,407,176 (GRCm39) H1464N probably benign Het
Klb A T 5: 65,536,683 (GRCm39) Y671F probably damaging Het
Kremen2 C A 17: 23,960,859 (GRCm39) R421L possibly damaging Het
Mroh9 T A 1: 162,866,750 (GRCm39) D662V probably damaging Het
Mtmr12 T G 15: 12,257,756 (GRCm39) M278R probably null Het
Ndufa8 T C 2: 35,934,447 (GRCm39) M44V possibly damaging Het
Nedd4l A T 18: 65,338,722 (GRCm39) R695S probably damaging Het
Nuf2 G A 1: 169,349,988 (GRCm39) P97S probably damaging Het
Or14c46 A C 7: 85,918,745 (GRCm39) L84R probably damaging Het
Or2ah1 T C 2: 85,653,396 (GRCm39) V27A probably benign Het
Or5ac24 T C 16: 59,165,567 (GRCm39) T166A possibly damaging Het
P4ha2 A G 11: 54,001,820 (GRCm39) T33A probably benign Het
Parp1 A G 1: 180,416,233 (GRCm39) H544R probably damaging Het
Plec A G 15: 76,061,969 (GRCm39) L2678P probably damaging Het
Rad1 T A 15: 10,490,379 (GRCm39) Y85* probably null Het
Sema6d A G 2: 124,499,741 (GRCm39) I309V probably benign Het
Skint2 T C 4: 112,481,548 (GRCm39) V137A probably damaging Het
Slc23a3 T C 1: 75,109,877 (GRCm39) N130S probably benign Het
Slc35f1 T C 10: 52,938,596 (GRCm39) F176S probably damaging Het
Slc44a2 T A 9: 21,232,144 (GRCm39) Y10N probably benign Het
Smarcc1 A G 9: 110,014,952 (GRCm39) T506A probably damaging Het
Smchd1 A T 17: 71,694,087 (GRCm39) S1219R probably benign Het
Smco1 A G 16: 32,092,929 (GRCm39) N200S probably benign Het
Srcap A G 7: 127,141,115 (GRCm39) T1571A probably benign Het
Strip2 C T 6: 29,932,207 (GRCm39) T459I probably benign Het
Tarbp1 C T 8: 127,153,773 (GRCm39) A1560T probably damaging Het
Tcl1b1 T A 12: 105,125,952 (GRCm39) probably benign Het
Tdrd5 T C 1: 156,111,841 (GRCm39) E436G probably damaging Het
Trim31 T A 17: 37,209,408 (GRCm39) C55S probably damaging Het
Tsr1 G T 11: 74,794,745 (GRCm39) E467* probably null Het
Tulp4 T A 17: 6,235,564 (GRCm39) D178E probably damaging Het
Vmn1r30 A G 6: 58,411,995 (GRCm39) V279A possibly damaging Het
Vmn2r98 A G 17: 19,285,575 (GRCm39) R132G probably benign 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
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
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'- ATCCCTAGAAGGAGCAGCTG -3'
(R):5'- CTGGAAAATGACCTGTAAGTTTAGCG -3'

Sequencing Primer
(F):5'- TCCCTAGAAGGAGCAGCTGTTTAG -3'
(R):5'- CGAATTAGTGACAGTCTTCCAGC -3'
Posted On 2019-05-13