Incidental Mutation 'R7682:Emsy'
| ID |
592821 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Emsy
|
| Ensembl Gene |
ENSMUSG00000035401 |
| Gene Name |
EMSY, BRCA2-interacting transcriptional repressor |
| Synonyms |
2210018M11Rik |
| MMRRC Submission |
045748-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.520)
|
| Stock # |
R7682 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
98236344-98305990 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 98239905 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 1263
(R1263W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145858
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038359]
[ENSMUST00000205276]
[ENSMUST00000205886]
[ENSMUST00000205911]
|
| AlphaFold |
Q8BMB0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000038359
AA Change: R1117W
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000038216
Gene: ENSMUSG00000035401
AA Change: R1117W
| 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 damaging
Transcript: ENSMUST00000205276
AA Change: R1263W
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205886
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000205911
AA Change: R1069W
|
| Meta Mutation Damage Score |
0.0957 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (62/62) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310034C09Rik |
T |
A |
16: 88,556,373 (GRCm39) |
S196T |
probably benign |
Het |
| Abcc5 |
T |
C |
16: 20,186,803 (GRCm39) |
D977G |
probably damaging |
Het |
| Acot2 |
T |
C |
12: 84,034,698 (GRCm39) |
V8A |
probably benign |
Het |
| Adamts9 |
T |
A |
6: 92,857,679 (GRCm39) |
I870F |
possibly damaging |
Het |
| Adgrl3 |
G |
A |
5: 81,942,407 (GRCm39) |
V1414I |
probably damaging |
Het |
| Aggf1 |
T |
C |
13: 95,504,934 (GRCm39) |
K275R |
probably benign |
Het |
| Alpk1 |
T |
C |
3: 127,466,195 (GRCm39) |
I1104V |
possibly damaging |
Het |
| Angptl7 |
A |
T |
4: 148,582,539 (GRCm39) |
I119N |
probably damaging |
Het |
| Ank3 |
A |
T |
10: 69,824,065 (GRCm39) |
E129D |
possibly damaging |
Het |
| Brca2 |
T |
A |
5: 150,466,618 (GRCm39) |
H2127Q |
probably benign |
Het |
| Brd4 |
A |
G |
17: 32,420,134 (GRCm39) |
F1008S |
unknown |
Het |
| Car2 |
T |
C |
3: 14,953,025 (GRCm39) |
S56P |
probably damaging |
Het |
| Casp3 |
A |
G |
8: 47,085,420 (GRCm39) |
Y41C |
probably benign |
Het |
| Ces4a |
A |
T |
8: 105,873,297 (GRCm39) |
T381S |
probably benign |
Het |
| Clstn1 |
A |
G |
4: 149,710,558 (GRCm39) |
T77A |
possibly damaging |
Het |
| Cul7 |
G |
T |
17: 46,966,521 (GRCm39) |
V615L |
probably benign |
Het |
| Dnpep |
A |
G |
1: 75,293,384 (GRCm39) |
F24L |
probably damaging |
Het |
| Efcab3 |
T |
A |
11: 104,855,174 (GRCm39) |
|
probably null |
Het |
| Fam124b |
A |
T |
1: 80,191,282 (GRCm39) |
C34S |
possibly damaging |
Het |
| Fan1 |
C |
A |
7: 64,022,512 (GRCm39) |
G247V |
probably benign |
Het |
| Fbxl9 |
C |
A |
8: 106,041,916 (GRCm39) |
R304L |
possibly damaging |
Het |
| Glipr1l3 |
T |
G |
10: 111,977,777 (GRCm39) |
H218P |
probably benign |
Het |
| Gm14305 |
T |
A |
2: 176,412,703 (GRCm39) |
S198R |
probably benign |
Het |
| Gm14326 |
T |
C |
2: 177,590,274 (GRCm39) |
Y29C |
probably damaging |
Het |
| Gm45713 |
C |
T |
7: 44,783,426 (GRCm39) |
V147I |
probably benign |
Het |
| Gpr149 |
C |
T |
3: 62,438,160 (GRCm39) |
D666N |
probably damaging |
Het |
| Gpr183 |
A |
G |
14: 122,192,152 (GRCm39) |
I123T |
possibly damaging |
Het |
| Il7r |
A |
T |
15: 9,513,013 (GRCm39) |
H165Q |
probably damaging |
Het |
| Krt73 |
A |
G |
15: 101,710,480 (GRCm39) |
F85L |
probably benign |
Het |
| Lrrc8d |
A |
G |
5: 105,960,657 (GRCm39) |
T356A |
probably damaging |
Het |
| Marco |
A |
G |
1: 120,421,771 (GRCm39) |
|
probably null |
Het |
| Mettl14 |
T |
A |
3: 123,177,253 (GRCm39) |
E49D |
possibly damaging |
Het |
| Mrap |
T |
A |
16: 90,546,110 (GRCm39) |
|
probably null |
Het |
| Mrps34 |
C |
T |
17: 25,114,852 (GRCm39) |
A152V |
probably benign |
Het |
| Nfasc |
T |
A |
1: 132,501,511 (GRCm39) |
Y1163F |
unknown |
Het |
| Nfic |
T |
C |
10: 81,256,334 (GRCm39) |
D110G |
probably damaging |
Het |
| Nip7 |
T |
C |
8: 107,783,751 (GRCm39) |
V28A |
possibly damaging |
Het |
| Odam |
T |
C |
5: 88,040,287 (GRCm39) |
F251S |
possibly damaging |
Het |
| Olfm5 |
T |
A |
7: 103,810,979 (GRCm39) |
Q53L |
probably null |
Het |
| P2ry13 |
T |
G |
3: 59,117,545 (GRCm39) |
M78L |
probably benign |
Het |
| Pacs1 |
T |
C |
19: 5,202,727 (GRCm39) |
E385G |
probably damaging |
Het |
| Pip5k1b |
C |
T |
19: 24,337,343 (GRCm39) |
G315D |
probably damaging |
Het |
| Pla2g4a |
C |
A |
1: 149,762,022 (GRCm39) |
R145L |
probably damaging |
Het |
| Pramel26 |
A |
G |
4: 143,537,290 (GRCm39) |
L347S |
probably benign |
Het |
| Rars1 |
T |
C |
11: 35,719,579 (GRCm39) |
Q81R |
probably benign |
Het |
| Rassf7 |
A |
G |
7: 140,797,847 (GRCm39) |
N296D |
probably damaging |
Het |
| Rcsd1 |
C |
T |
1: 165,485,262 (GRCm39) |
A94T |
probably benign |
Het |
| Rgs8 |
T |
C |
1: 153,566,668 (GRCm39) |
F73S |
probably damaging |
Het |
| Rilpl2 |
A |
C |
5: 124,616,043 (GRCm39) |
Y36D |
probably damaging |
Het |
| Rpl10l |
A |
G |
12: 66,331,004 (GRCm39) |
V43A |
probably benign |
Het |
| Sesn2 |
T |
C |
4: 132,224,200 (GRCm39) |
I403V |
probably damaging |
Het |
| Slc10a4 |
C |
T |
5: 73,164,453 (GRCm39) |
S15L |
unknown |
Het |
| Slc7a5 |
T |
C |
8: 122,633,879 (GRCm39) |
Y156C |
probably damaging |
Het |
| Spata18 |
A |
G |
5: 73,826,008 (GRCm39) |
H105R |
|
Het |
| Specc1l |
A |
G |
10: 75,081,636 (GRCm39) |
D344G |
probably damaging |
Het |
| Syne1 |
A |
G |
10: 5,112,461 (GRCm39) |
V415A |
probably benign |
Het |
| Thbs4 |
T |
G |
13: 92,912,070 (GRCm39) |
D220A |
probably benign |
Het |
| Tmco5 |
T |
C |
2: 116,716,752 (GRCm39) |
S152P |
probably benign |
Het |
| Tmem35b |
A |
T |
4: 127,022,734 (GRCm39) |
D125V |
probably damaging |
Het |
| Trim17 |
A |
G |
11: 58,857,634 (GRCm39) |
E155G |
possibly damaging |
Het |
| Vmn2r11 |
A |
C |
5: 109,195,481 (GRCm39) |
V615G |
probably benign |
Het |
| Vmn2r88 |
A |
T |
14: 51,655,906 (GRCm39) |
Q705L |
|
Het |
| Vmn2r93 |
A |
G |
17: 18,525,583 (GRCm39) |
R414G |
probably benign |
Het |
| Xirp2 |
T |
C |
2: 67,339,193 (GRCm39) |
L478P |
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 |
|
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'- GCTGCTTAGCACCAACAAGG -3'
(R):5'- AGTATGCTATTCCTTGTCACTCCAG -3'
Sequencing Primer
(F):5'- CCATGGGGTGCATCGTTTCC -3'
(R):5'- ACTCCAGCTCCAATGTGGTG -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation