Incidental Mutation 'R7794:Emsy'
| ID |
600121 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Emsy
|
| Ensembl Gene |
ENSMUSG00000035401 |
| Gene Name |
EMSY, BRCA2-interacting transcriptional repressor |
| Synonyms |
2210018M11Rik |
| MMRRC Submission |
045850-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.520)
|
| Stock # |
R7794 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
98236344-98305990 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 98249931 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 785
(S785R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145858
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038359]
[ENSMUST00000205276]
[ENSMUST00000205886]
[ENSMUST00000205911]
[ENSMUST00000206619]
[ENSMUST00000206626]
|
| AlphaFold |
Q8BMB0 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000038359
AA Change: S785R
|
| SMART Domains |
Protein: ENSMUSP00000038216
Gene: ENSMUSG00000035401
AA Change: S785R
| 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 |
probably benign
Transcript: ENSMUST00000205276
AA Change: S785R
PolyPhen 2
Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000205886
AA Change: S105R
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205911
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206619
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206626
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (60/60) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
A |
T |
2: 69,117,022 (GRCm39) |
M542K |
possibly damaging |
Het |
| Abcc3 |
T |
A |
11: 94,249,697 (GRCm39) |
I1083F |
probably benign |
Het |
| Acsm5 |
A |
G |
7: 119,137,352 (GRCm39) |
|
probably benign |
Het |
| Acyp1 |
G |
T |
12: 85,335,053 (GRCm39) |
A22E |
probably benign |
Het |
| Afdn |
C |
A |
17: 14,102,695 (GRCm39) |
A1090E |
probably damaging |
Het |
| Ahdc1 |
T |
G |
4: 132,791,289 (GRCm39) |
D843E |
possibly damaging |
Het |
| Bahcc1 |
G |
T |
11: 120,163,507 (GRCm39) |
E602* |
probably null |
Het |
| Bora |
A |
G |
14: 99,310,080 (GRCm39) |
T470A |
possibly damaging |
Het |
| Bzw1 |
T |
A |
1: 58,439,959 (GRCm39) |
S166T |
probably benign |
Het |
| Car13 |
A |
G |
3: 14,719,948 (GRCm39) |
H120R |
probably damaging |
Het |
| Cstf3 |
G |
A |
2: 104,420,926 (GRCm39) |
⇒1 |
probably benign |
Het |
| Dip2a |
T |
C |
10: 76,112,459 (GRCm39) |
N1080D |
probably damaging |
Het |
| Dis3 |
A |
G |
14: 99,336,233 (GRCm39) |
L91P |
probably benign |
Het |
| E2f6 |
A |
G |
12: 16,870,370 (GRCm39) |
D174G |
possibly damaging |
Het |
| Fbxl17 |
A |
G |
17: 63,663,806 (GRCm39) |
I561T |
probably damaging |
Het |
| Gabra6 |
A |
T |
11: 42,211,868 (GRCm39) |
|
probably null |
Het |
| Gm47996 |
C |
G |
1: 151,086,545 (GRCm39) |
P209A |
possibly damaging |
Het |
| Hcls1 |
A |
G |
16: 36,782,426 (GRCm39) |
E365G |
probably damaging |
Het |
| Hoxa6 |
T |
A |
6: 52,183,548 (GRCm39) |
T166S |
possibly damaging |
Het |
| Hydin |
A |
G |
8: 111,235,715 (GRCm39) |
Y1900C |
probably damaging |
Het |
| I0C0044D17Rik |
T |
C |
4: 98,708,582 (GRCm39) |
|
probably benign |
Het |
| Ifitm7 |
T |
C |
16: 13,801,610 (GRCm39) |
T50A |
probably benign |
Het |
| Igkv10-95 |
A |
G |
6: 68,657,811 (GRCm39) |
Q109R |
possibly damaging |
Het |
| Il1rap |
A |
T |
16: 26,541,658 (GRCm39) |
H633L |
probably benign |
Het |
| Ippk |
C |
T |
13: 49,599,818 (GRCm39) |
P226S |
|
Het |
| Kmt2e |
G |
A |
5: 23,669,714 (GRCm39) |
G67D |
probably damaging |
Het |
| Kpna6 |
T |
C |
4: 129,541,844 (GRCm39) |
T518A |
probably benign |
Het |
| Marchf11 |
A |
G |
15: 26,409,284 (GRCm39) |
I328V |
probably benign |
Het |
| Mbtps1 |
A |
G |
8: 120,265,623 (GRCm39) |
I308T |
probably damaging |
Het |
| Mug1 |
A |
T |
6: 121,833,247 (GRCm39) |
D284V |
possibly damaging |
Het |
| Myo16 |
A |
G |
8: 10,619,913 (GRCm39) |
K1488R |
unknown |
Het |
| Myom2 |
G |
A |
8: 15,133,259 (GRCm39) |
G384R |
probably damaging |
Het |
| Naa16 |
A |
G |
14: 79,614,934 (GRCm39) |
Y189H |
probably damaging |
Het |
| Nav3 |
G |
A |
10: 109,524,717 (GRCm39) |
A2304V |
probably benign |
Het |
| Or12e10 |
T |
A |
2: 87,640,818 (GRCm39) |
V218E |
probably damaging |
Het |
| Or14c46 |
T |
A |
7: 85,918,341 (GRCm39) |
I219L |
probably damaging |
Het |
| Or14j5 |
A |
T |
17: 38,161,678 (GRCm39) |
Q65L |
probably benign |
Het |
| Orc5 |
A |
T |
5: 22,738,782 (GRCm39) |
Y160N |
possibly damaging |
Het |
| Pan2 |
T |
C |
10: 128,152,396 (GRCm39) |
|
probably null |
Het |
| Pcdhb20 |
A |
G |
18: 37,637,485 (GRCm39) |
R4G |
probably benign |
Het |
| Poc1b |
A |
G |
10: 98,965,460 (GRCm39) |
S130G |
possibly damaging |
Het |
| Psme2b |
A |
G |
11: 48,836,683 (GRCm39) |
V88A |
probably benign |
Het |
| Ptpn13 |
C |
T |
5: 103,640,090 (GRCm39) |
T183M |
probably benign |
Het |
| Ptpn4 |
T |
C |
1: 119,653,767 (GRCm39) |
E275G |
probably damaging |
Het |
| Rab21 |
A |
T |
10: 115,134,762 (GRCm39) |
L119* |
probably null |
Het |
| Rep15 |
T |
A |
6: 146,934,638 (GRCm39) |
I159N |
probably damaging |
Het |
| Rps6kc1 |
T |
C |
1: 190,515,825 (GRCm39) |
E967G |
probably benign |
Het |
| Rptn |
G |
A |
3: 93,303,036 (GRCm39) |
R123K |
probably benign |
Het |
| Scn11a |
A |
T |
9: 119,594,580 (GRCm39) |
V1271D |
probably damaging |
Het |
| Scn5a |
A |
T |
9: 119,358,153 (GRCm39) |
I696N |
probably damaging |
Het |
| Slc25a12 |
T |
C |
2: 71,141,852 (GRCm39) |
E267G |
probably damaging |
Het |
| Slc5a4b |
A |
T |
10: 75,898,133 (GRCm39) |
M527K |
probably benign |
Het |
| Spata31e4 |
C |
G |
13: 50,856,344 (GRCm39) |
P661A |
probably damaging |
Het |
| Speg |
T |
A |
1: 75,365,514 (GRCm39) |
S632T |
probably benign |
Het |
| Stard9 |
G |
A |
2: 120,534,911 (GRCm39) |
G3723S |
probably benign |
Het |
| Synrg |
G |
T |
11: 83,910,400 (GRCm39) |
M933I |
probably benign |
Het |
| Tmem178b |
A |
T |
6: 40,222,551 (GRCm39) |
I89F |
probably damaging |
Het |
| Tyr |
C |
T |
7: 87,133,028 (GRCm39) |
|
probably null |
Het |
| Usp30 |
T |
A |
5: 114,251,033 (GRCm39) |
C237* |
probably null |
Het |
| Xpo6 |
G |
T |
7: 125,760,035 (GRCm39) |
T188K |
probably damaging |
Het |
| Zfp382 |
G |
A |
7: 29,831,035 (GRCm39) |
S108N |
possibly damaging |
Het |
| Zfp820 |
A |
C |
17: 22,039,109 (GRCm39) |
V73G |
probably damaging |
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 |
|
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'- CAATCTGCTCTGAGTAAAACAGG -3'
(R):5'- CAGTCTGCAGTTTCCAATTCATTG -3'
Sequencing Primer
(F):5'- TCTGCTCTGAGTAAAACAGGAAAAG -3'
(R):5'- GGTTCATTATTCCCATAGACAGC -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation