Incidental Mutation 'R1515:Emsy'
ID |
168222 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Emsy
|
Ensembl Gene |
ENSMUSG00000035401 |
Gene Name |
EMSY, BRCA2-interacting transcriptional repressor |
Synonyms |
2210018M11Rik |
MMRRC Submission |
039562-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.577)
|
Stock # |
R1515 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
98236344-98305990 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 98240063 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 1064
(H1064R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000038216
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038359]
[ENSMUST00000205276]
[ENSMUST00000205886]
[ENSMUST00000205911]
|
AlphaFold |
Q8BMB0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000038359
AA Change: H1064R
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000038216 Gene: ENSMUSG00000035401 AA Change: H1064R
Domain | Start | End | E-Value | Type |
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: H1210R
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
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: H1016R
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akt2 |
A |
G |
7: 27,336,583 (GRCm39) |
T401A |
probably damaging |
Het |
Arhgap32 |
G |
T |
9: 32,027,498 (GRCm39) |
V23L |
probably benign |
Het |
Atmin |
T |
A |
8: 117,681,579 (GRCm39) |
C193S |
possibly damaging |
Het |
Atp13a5 |
C |
T |
16: 29,152,792 (GRCm39) |
V225I |
probably benign |
Het |
Auh |
G |
A |
13: 52,989,532 (GRCm39) |
P308L |
probably benign |
Het |
BC024139 |
A |
G |
15: 76,008,526 (GRCm39) |
V350A |
possibly damaging |
Het |
Birc6 |
G |
T |
17: 74,835,631 (GRCm39) |
E29* |
probably null |
Het |
Bnc2 |
T |
C |
4: 84,332,563 (GRCm39) |
N104S |
probably null |
Het |
C030048H21Rik |
T |
C |
2: 26,147,515 (GRCm39) |
|
probably null |
Het |
Cd320 |
G |
T |
17: 34,066,613 (GRCm39) |
C117F |
probably damaging |
Het |
Cdkal1 |
A |
G |
13: 29,510,133 (GRCm39) |
S542P |
probably damaging |
Het |
Crocc |
T |
C |
4: 140,747,048 (GRCm39) |
T1587A |
probably benign |
Het |
Defb41 |
T |
C |
1: 18,330,817 (GRCm39) |
|
probably null |
Het |
Dmtf1 |
A |
G |
5: 9,190,384 (GRCm39) |
|
probably null |
Het |
Dnhd1 |
A |
G |
7: 105,353,355 (GRCm39) |
N2836S |
probably benign |
Het |
Dpp8 |
G |
A |
9: 64,986,030 (GRCm39) |
S840N |
probably benign |
Het |
Dsc2 |
A |
G |
18: 20,167,758 (GRCm39) |
F111L |
probably damaging |
Het |
Dsc2 |
T |
A |
18: 20,178,622 (GRCm39) |
I261F |
probably benign |
Het |
Ece1 |
T |
C |
4: 137,678,819 (GRCm39) |
V509A |
probably benign |
Het |
Ecm2 |
T |
C |
13: 49,671,808 (GRCm39) |
M103T |
possibly damaging |
Het |
Engase |
T |
C |
11: 118,377,966 (GRCm39) |
V252A |
possibly damaging |
Het |
F13b |
A |
G |
1: 139,438,703 (GRCm39) |
Y369C |
probably damaging |
Het |
Flii |
T |
C |
11: 60,612,432 (GRCm39) |
|
probably null |
Het |
Fzd10 |
T |
A |
5: 128,679,623 (GRCm39) |
F448I |
probably damaging |
Het |
Gpr35 |
T |
G |
1: 92,910,770 (GRCm39) |
F161V |
probably damaging |
Het |
Gprin2 |
T |
C |
14: 33,917,230 (GRCm39) |
D180G |
possibly damaging |
Het |
Grik3 |
A |
G |
4: 125,564,521 (GRCm39) |
N501S |
probably benign |
Het |
Hells |
A |
G |
19: 38,956,209 (GRCm39) |
K802E |
probably damaging |
Het |
Il1r1 |
T |
A |
1: 40,332,509 (GRCm39) |
C96* |
probably null |
Het |
Kcnk16 |
T |
A |
14: 20,315,345 (GRCm39) |
I73F |
probably damaging |
Het |
Kcnq5 |
A |
G |
1: 21,472,905 (GRCm39) |
S652P |
probably benign |
Het |
Lamc3 |
A |
G |
2: 31,830,763 (GRCm39) |
D1500G |
probably damaging |
Het |
Macf1 |
A |
G |
4: 123,272,273 (GRCm39) |
F6468L |
probably damaging |
Het |
Mgrn1 |
T |
A |
16: 4,733,644 (GRCm39) |
F198I |
probably benign |
Het |
Mmp3 |
A |
G |
9: 7,451,232 (GRCm39) |
T323A |
probably benign |
Het |
N4bp2 |
A |
G |
5: 65,947,841 (GRCm39) |
Y157C |
probably benign |
Het |
Nfkbid |
C |
A |
7: 30,124,781 (GRCm39) |
H190Q |
probably benign |
Het |
Or10a3m |
T |
C |
7: 108,313,148 (GRCm39) |
V184A |
possibly damaging |
Het |
Or5b118 |
T |
C |
19: 13,449,044 (GRCm39) |
S237P |
probably damaging |
Het |
Or6c75 |
T |
C |
10: 129,337,460 (GRCm39) |
S236P |
probably damaging |
Het |
Osgin2 |
C |
T |
4: 15,998,380 (GRCm39) |
G414D |
probably benign |
Het |
Pkd1 |
G |
A |
17: 24,813,827 (GRCm39) |
R4097H |
probably benign |
Het |
Pnkd |
T |
A |
1: 74,388,968 (GRCm39) |
L213Q |
probably null |
Het |
Ppfibp1 |
A |
G |
6: 146,928,930 (GRCm39) |
H850R |
probably benign |
Het |
Ppp6r1 |
T |
C |
7: 4,646,257 (GRCm39) |
D148G |
probably damaging |
Het |
Ptprt |
A |
T |
2: 162,079,954 (GRCm39) |
S282T |
probably damaging |
Het |
Sgsm3 |
T |
C |
15: 80,894,457 (GRCm39) |
V536A |
probably benign |
Het |
Slc22a23 |
T |
A |
13: 34,387,947 (GRCm39) |
Q383L |
probably benign |
Het |
Snx29 |
T |
C |
16: 11,217,701 (GRCm39) |
|
probably null |
Het |
Tmem229b-ps |
T |
A |
10: 53,351,542 (GRCm39) |
|
noncoding transcript |
Het |
Tmod4 |
A |
T |
3: 95,035,990 (GRCm39) |
Y317F |
possibly damaging |
Het |
Trim13 |
T |
C |
14: 61,843,108 (GRCm39) |
M375T |
probably benign |
Het |
Txndc11 |
A |
G |
16: 10,892,926 (GRCm39) |
S935P |
probably damaging |
Het |
Umod |
T |
C |
7: 119,064,720 (GRCm39) |
N592D |
probably benign |
Het |
Vmn2r118 |
A |
G |
17: 55,917,643 (GRCm39) |
Y290H |
probably benign |
Het |
Vps26b |
A |
G |
9: 26,924,041 (GRCm39) |
M234T |
probably damaging |
Het |
Zbtb48 |
A |
G |
4: 152,104,658 (GRCm39) |
|
probably null |
Het |
Zfc3h1 |
T |
A |
10: 115,252,647 (GRCm39) |
F1320Y |
probably benign |
Het |
Zfp784 |
A |
T |
7: 5,039,039 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Emsy |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
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'- CTTAGCACCAACAAGGTGCCGGG -3'
(R):5'- TGGAGGTGGTCCAGGACATGCCAG -3'
Sequencing Primer
(F):5'- CGTTTCCTCTGCttttttttttttc -3'
(R):5'- GACACAGTCTCCTCTTGGCTTT -3'
|
Posted On |
2014-04-13 |