Incidental Mutation 'R1452:Emsy'
ID 161075
Institutional Source Beutler Lab
Gene Symbol Emsy
Ensembl Gene ENSMUSG00000035401
Gene Name EMSY, BRCA2-interacting transcriptional repressor
Synonyms 2210018M11Rik
MMRRC Submission 039507-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.520) question?
Stock # R1452 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 98236344-98305990 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 98249881 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 802 (T802K)
Ref Sequence ENSEMBL: ENSMUSP00000145858 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038359] [ENSMUST00000205276] [ENSMUST00000205886] [ENSMUST00000205911] [ENSMUST00000206619] [ENSMUST00000206626]
AlphaFold Q8BMB0
Predicted Effect probably damaging
Transcript: ENSMUST00000038359
AA Change: T802K

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000038216
Gene: ENSMUSG00000035401
AA Change: T802K

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 damaging
Transcript: ENSMUST00000205276
AA Change: T802K

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205485
Predicted Effect unknown
Transcript: ENSMUST00000205886
AA Change: T122K
Predicted Effect probably benign
Transcript: ENSMUST00000205911
Predicted Effect probably benign
Transcript: ENSMUST00000206619
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206813
Predicted Effect probably benign
Transcript: ENSMUST00000206626
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.8%
  • 10x: 94.8%
  • 20x: 87.5%
Validation Efficiency 99% (70/71)
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A G 6: 121,655,015 (GRCm39) I1446M probably benign Het
Acaca T A 11: 84,185,885 (GRCm39) probably benign Het
Adgre4 A T 17: 56,091,996 (GRCm39) E85D probably benign Het
Akt3 A T 1: 176,958,633 (GRCm39) Y26N possibly damaging Het
Arl15 T C 13: 114,104,319 (GRCm39) V132A probably benign Het
Atp6v1h A G 1: 5,168,360 (GRCm39) probably benign Het
Atrip T A 9: 108,901,727 (GRCm39) D110V probably damaging Het
Bahcc1 T G 11: 120,173,065 (GRCm39) probably benign Het
Cd53 C T 3: 106,676,275 (GRCm39) G31S probably damaging Het
Cdk14 T C 5: 4,938,927 (GRCm39) S404G possibly damaging Het
Cers3 A T 7: 66,433,152 (GRCm39) K156N probably damaging Het
Colgalt2 C A 1: 152,379,904 (GRCm39) L448M probably damaging Het
Cox15 G T 19: 43,735,344 (GRCm39) T141K probably damaging Het
Csnk2a2 C T 8: 96,184,003 (GRCm39) probably benign Het
Cyp2b10 A T 7: 25,624,813 (GRCm39) probably benign Het
Cyp2c55 A G 19: 38,999,534 (GRCm39) Y80C probably damaging Het
Depdc1a A G 3: 159,232,328 (GRCm39) Y693C possibly damaging Het
Des T C 1: 75,340,121 (GRCm39) S343P probably damaging Het
Dync1i2 T C 2: 71,080,207 (GRCm39) probably benign Het
Eif3m T A 2: 104,837,122 (GRCm39) Q199L probably damaging Het
Endov A G 11: 119,382,651 (GRCm39) T33A probably damaging Het
Epb41l5 G A 1: 119,476,896 (GRCm39) T728I probably damaging Het
Fbxo39 A G 11: 72,209,228 (GRCm39) I363V probably benign Het
Gm8674 C T 13: 50,054,553 (GRCm39) noncoding transcript Het
Il6st T A 13: 112,617,998 (GRCm39) N137K possibly damaging Het
Inf2 A G 12: 112,567,778 (GRCm39) N136S probably damaging Het
Iqub A T 6: 24,491,558 (GRCm39) I376N probably benign Het
Kansl3 A G 1: 36,393,874 (GRCm39) probably benign Het
Kbtbd2 A T 6: 56,758,909 (GRCm39) H71Q probably damaging Het
Lgals8 G T 13: 12,468,208 (GRCm39) Y140* probably null Het
Mab21l4 T C 1: 93,080,661 (GRCm39) Y415C probably damaging Het
Macf1 T A 4: 123,387,791 (GRCm39) I924L probably benign Het
Mcoln2 A T 3: 145,887,569 (GRCm39) T329S possibly damaging Het
Mex3d A T 10: 80,217,354 (GRCm39) L621Q probably damaging Het
Mmut A G 17: 41,248,359 (GRCm39) probably benign Het
Ncor1 T C 11: 62,225,457 (GRCm39) H1038R probably damaging Het
Neb A G 2: 52,161,309 (GRCm39) probably null Het
Ngrn A G 7: 79,914,520 (GRCm39) T224A probably benign Het
Nin G A 12: 70,064,424 (GRCm39) R2019* probably null Het
Nphp4 C G 4: 152,631,475 (GRCm39) Q792E probably damaging Het
Or13e8 C T 4: 43,696,823 (GRCm39) V117M probably benign Het
Or2z9 C T 8: 72,854,020 (GRCm39) Q139* probably null Het
Or4c3d C T 2: 89,882,015 (GRCm39) V218I possibly damaging Het
Or5d38 C T 2: 87,954,655 (GRCm39) V225I probably benign Het
Or8k3 T A 2: 86,058,799 (GRCm39) N172I probably damaging Het
Pde4dip C A 3: 97,631,418 (GRCm39) V1164L probably damaging Het
Plppr1 A G 4: 49,301,067 (GRCm39) probably benign Het
Pole2 G A 12: 69,254,703 (GRCm39) L381F probably benign Het
Ppp2r5e A G 12: 75,516,310 (GRCm39) probably benign Het
Prim2 T A 1: 33,669,485 (GRCm39) E163D probably benign Het
Prrc2b A T 2: 32,084,997 (GRCm39) D296V probably damaging Het
Pter A G 2: 12,983,432 (GRCm39) probably benign Het
Resf1 A T 6: 149,228,130 (GRCm39) K392I probably damaging Het
Robo2 C A 16: 73,758,798 (GRCm39) V662L probably damaging Het
Sirpd G T 3: 15,397,212 (GRCm39) T24K unknown Het
Slco1b2 A T 6: 141,617,926 (GRCm39) I424F probably benign Het
Snx29 A T 16: 11,449,335 (GRCm39) H260L probably damaging Het
Stil A G 4: 114,896,392 (GRCm39) N959S probably benign Het
Taar8c A T 10: 23,977,508 (GRCm39) D101E probably benign Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Trpc6 G A 9: 8,653,148 (GRCm39) M573I probably damaging Het
Tsr1 A T 11: 74,790,425 (GRCm39) D171V probably benign Het
Ube4b T C 4: 149,455,626 (GRCm39) T348A probably damaging Het
Vmn1r85 A T 7: 12,818,808 (GRCm39) I112N probably damaging Het
Vps36 A G 8: 22,708,226 (GRCm39) probably null Het
Wdfy3 G A 5: 102,085,604 (GRCm39) A630V possibly damaging Het
Wdsub1 A T 2: 59,707,144 (GRCm39) D14E probably null Het
Ylpm1 T C 12: 85,077,157 (GRCm39) I1294T possibly damaging Het
Zdhhc17 A G 10: 110,790,936 (GRCm39) F378L 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
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
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'- GGGTTATTCACATCACTACCCCTGAAC -3'
(R):5'- ACTAATGGTAGGACACCCCAGAGGTC -3'

Sequencing Primer
(F):5'- gagaaagagagaaagagagagagag -3'
(R):5'- GGTTCATTATTCCCATAGACAGC -3'
Posted On 2014-03-14