Incidental Mutation 'R8070:Emsy'
ID |
620237 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Emsy
|
Ensembl Gene |
ENSMUSG00000035401 |
Gene Name |
EMSY, BRCA2-interacting transcriptional repressor |
Synonyms |
2210018M11Rik |
MMRRC Submission |
067505-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.520)
|
Stock # |
R8070 (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 G
at 98275922 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 336
(S336P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000145858
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038359]
[ENSMUST00000205276]
[ENSMUST00000205911]
[ENSMUST00000206611]
[ENSMUST00000206619]
|
AlphaFold |
Q8BMB0 |
Predicted Effect |
unknown
Transcript: ENSMUST00000038359
AA Change: S336P
|
SMART Domains |
Protein: ENSMUSP00000038216 Gene: ENSMUSG00000035401 AA Change: S336P
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: S336P
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000205911
AA Change: S297P
PolyPhen 2
Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206611
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000206619
AA Change: S322P
PolyPhen 2
Score 0.465 (Sensitivity: 0.89; Specificity: 0.90)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
0610040J01Rik |
A |
G |
5: 64,055,510 (GRCm39) |
E82G |
probably benign |
Het |
9830107B12Rik |
A |
G |
17: 48,452,681 (GRCm39) |
F86S |
probably damaging |
Het |
Aamdc |
A |
T |
7: 97,224,855 (GRCm39) |
Y2* |
probably null |
Het |
Acta1 |
T |
A |
8: 124,620,360 (GRCm39) |
D26V |
possibly damaging |
Het |
Adra1d |
A |
C |
2: 131,403,502 (GRCm39) |
L196R |
probably damaging |
Het |
Agbl2 |
G |
A |
2: 90,621,909 (GRCm39) |
C132Y |
probably benign |
Het |
Amd1 |
A |
G |
10: 40,170,226 (GRCm39) |
V92A |
probably benign |
Het |
Arid4b |
T |
A |
13: 14,310,844 (GRCm39) |
I149K |
probably benign |
Het |
Atg7 |
A |
G |
6: 114,674,041 (GRCm39) |
M312V |
probably benign |
Het |
Bap1 |
T |
A |
14: 30,978,643 (GRCm39) |
V381E |
probably damaging |
Het |
Cbfa2t3 |
C |
T |
8: 123,369,720 (GRCm39) |
V207I |
possibly damaging |
Het |
Cdh24 |
T |
C |
14: 54,870,030 (GRCm39) |
Q629R |
probably benign |
Het |
Cdhr2 |
G |
T |
13: 54,867,606 (GRCm39) |
V479L |
probably benign |
Het |
Chd2 |
A |
G |
7: 73,101,506 (GRCm39) |
S1407P |
probably benign |
Het |
Clstn2 |
A |
G |
9: 97,681,523 (GRCm39) |
V39A |
possibly damaging |
Het |
Cwh43 |
T |
A |
5: 73,578,806 (GRCm39) |
M357K |
possibly damaging |
Het |
Dcdc2a |
T |
A |
13: 25,386,180 (GRCm39) |
D351E |
probably benign |
Het |
Dennd6b |
T |
C |
15: 89,069,576 (GRCm39) |
I517V |
probably benign |
Het |
Dnah17 |
T |
C |
11: 117,915,497 (GRCm39) |
E4374G |
probably damaging |
Het |
Enoph1 |
A |
T |
5: 100,208,841 (GRCm39) |
E65D |
probably benign |
Het |
Fam83f |
T |
A |
15: 80,556,281 (GRCm39) |
L55Q |
probably damaging |
Het |
Fry |
T |
C |
5: 150,401,472 (GRCm39) |
F379L |
|
Het |
Fscb |
A |
T |
12: 64,521,382 (GRCm39) |
M28K |
probably benign |
Het |
Gas7 |
G |
A |
11: 67,574,260 (GRCm39) |
V412M |
probably damaging |
Het |
Gatad1 |
T |
C |
5: 3,693,540 (GRCm39) |
R210G |
probably benign |
Het |
Gcn1 |
T |
A |
5: 115,727,057 (GRCm39) |
V638E |
probably benign |
Het |
Ggt1 |
A |
T |
10: 75,414,733 (GRCm39) |
I184F |
probably damaging |
Het |
Gigyf2 |
A |
G |
1: 87,368,629 (GRCm39) |
N1103S |
probably benign |
Het |
Gm5592 |
G |
A |
7: 40,935,887 (GRCm39) |
A130T |
possibly damaging |
Het |
Gys2 |
T |
C |
6: 142,394,230 (GRCm39) |
|
probably null |
Het |
Hmcn1 |
C |
A |
1: 150,525,743 (GRCm39) |
E3327* |
probably null |
Het |
Ighv1-36 |
C |
T |
12: 114,843,656 (GRCm39) |
G68E |
probably damaging |
Het |
Igkv6-32 |
G |
A |
6: 70,051,089 (GRCm39) |
T89M |
probably damaging |
Het |
Ipo7 |
A |
G |
7: 109,652,014 (GRCm39) |
D931G |
probably benign |
Het |
Jakmip1 |
A |
G |
5: 37,330,631 (GRCm39) |
E437G |
probably benign |
Het |
Lingo3 |
C |
T |
10: 80,671,955 (GRCm39) |
|
probably benign |
Het |
Lnpep |
A |
G |
17: 17,758,900 (GRCm39) |
S815P |
probably damaging |
Het |
Ly6a |
T |
C |
15: 74,869,449 (GRCm39) |
D2G |
probably damaging |
Het |
Madd |
C |
A |
2: 90,988,359 (GRCm39) |
E1223* |
probably null |
Het |
Mapk8ip3 |
A |
T |
17: 25,120,078 (GRCm39) |
|
probably null |
Het |
Mecom |
T |
C |
3: 30,033,987 (GRCm39) |
E239G |
probably damaging |
Het |
Mug1 |
T |
C |
6: 121,852,838 (GRCm39) |
V889A |
probably benign |
Het |
Myo18b |
T |
A |
5: 112,938,986 (GRCm39) |
N1675I |
probably benign |
Het |
Ndrg4 |
T |
C |
8: 96,426,756 (GRCm39) |
F50L |
possibly damaging |
Het |
Ndst4 |
A |
G |
3: 125,508,293 (GRCm39) |
Y286C |
probably damaging |
Het |
Nrp2 |
C |
T |
1: 62,784,567 (GRCm39) |
R239C |
probably damaging |
Het |
Olfm3 |
A |
G |
3: 114,895,604 (GRCm39) |
D195G |
probably damaging |
Het |
Or2y14 |
A |
T |
11: 49,404,941 (GRCm39) |
T159S |
probably damaging |
Het |
Or4p21 |
G |
T |
2: 88,277,003 (GRCm39) |
T93K |
probably benign |
Het |
Pds5a |
A |
G |
5: 65,809,741 (GRCm39) |
L407P |
possibly damaging |
Het |
Pgm2 |
A |
G |
5: 64,269,425 (GRCm39) |
N504S |
probably benign |
Het |
Plce1 |
A |
G |
19: 38,690,283 (GRCm39) |
M656V |
probably damaging |
Het |
Pou6f2 |
T |
C |
13: 18,414,209 (GRCm39) |
T189A |
unknown |
Het |
Ppp1r12b |
T |
C |
1: 134,803,807 (GRCm39) |
S451G |
probably benign |
Het |
Prox1 |
T |
G |
1: 189,893,107 (GRCm39) |
N446T |
probably damaging |
Het |
Ralgapa2 |
T |
A |
2: 146,195,199 (GRCm39) |
R1195S |
probably damaging |
Het |
Rere |
A |
G |
4: 150,701,832 (GRCm39) |
D37G |
probably damaging |
Het |
Tfip11 |
T |
A |
5: 112,482,796 (GRCm39) |
M560K |
possibly damaging |
Het |
Thop1 |
T |
C |
10: 80,915,320 (GRCm39) |
V260A |
probably damaging |
Het |
Tle6 |
A |
G |
10: 81,434,476 (GRCm39) |
M41T |
possibly damaging |
Het |
Trav13d-4 |
T |
C |
14: 53,995,249 (GRCm39) |
S68P |
possibly damaging |
Het |
Trim24 |
A |
G |
6: 37,934,661 (GRCm39) |
N826S |
probably damaging |
Het |
Tuba3a |
T |
C |
6: 125,255,433 (GRCm39) |
E414G |
probably damaging |
Het |
Vmn2r78 |
A |
G |
7: 86,571,695 (GRCm39) |
I502V |
probably benign |
Het |
Vmn2r79 |
A |
T |
7: 86,651,336 (GRCm39) |
Y245F |
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 |
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 |
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'- ACCTGACTCCTGTTTGATCTGG -3'
(R):5'- GCAAGACTATAACGAGTAAGCACTG -3'
Sequencing Primer
(F):5'- TTTGATACCAGGCGGCAATGC -3'
(R):5'- TTGTTTTGAGCTGCCCAC -3'
|
Posted On |
2020-01-23 |