Incidental Mutation 'R2223:Emsy'
ID |
241615 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Emsy
|
Ensembl Gene |
ENSMUSG00000035401 |
Gene Name |
EMSY, BRCA2-interacting transcriptional repressor |
Synonyms |
2210018M11Rik |
MMRRC Submission |
040224-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.520)
|
Stock # |
R2223 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
98236344-98305990 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 98239982 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 1091
(E1091G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000038216
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038359]
[ENSMUST00000205276]
[ENSMUST00000205886]
[ENSMUST00000205911]
|
AlphaFold |
Q8BMB0 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000038359
AA Change: E1091G
PolyPhen 2
Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000038216 Gene: ENSMUSG00000035401 AA Change: E1091G
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: E1237G
PolyPhen 2
Score 0.823 (Sensitivity: 0.84; Specificity: 0.93)
|
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: E1043G
|
Meta Mutation Damage Score |
0.1065 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
Validation Efficiency |
100% (59/59) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd18 |
A |
G |
3: 40,889,296 (GRCm39) |
|
probably benign |
Het |
Acvr1b |
C |
T |
15: 101,100,924 (GRCm39) |
A362V |
probably benign |
Het |
Adamts5 |
A |
C |
16: 85,696,194 (GRCm39) |
L321R |
probably damaging |
Het |
Adamtsl1 |
A |
C |
4: 86,306,762 (GRCm39) |
D1392A |
probably benign |
Het |
Afdn |
T |
C |
17: 14,103,999 (GRCm39) |
|
probably benign |
Het |
Aph1b |
A |
T |
9: 66,691,921 (GRCm39) |
M121K |
probably damaging |
Het |
Aspg |
G |
A |
12: 112,080,868 (GRCm39) |
A120T |
probably damaging |
Het |
Atp8b1 |
T |
A |
18: 64,697,428 (GRCm39) |
N472I |
possibly damaging |
Het |
B4galt3 |
C |
A |
1: 171,101,613 (GRCm39) |
H196N |
probably damaging |
Het |
Cdcp3 |
A |
T |
7: 130,849,186 (GRCm39) |
|
probably null |
Het |
Cfd |
A |
T |
10: 79,728,039 (GRCm39) |
|
probably null |
Het |
Cntnap5b |
A |
G |
1: 100,141,412 (GRCm39) |
E242G |
probably damaging |
Het |
Col9a2 |
C |
G |
4: 120,911,455 (GRCm39) |
R599G |
probably damaging |
Het |
Cradd |
A |
C |
10: 95,011,735 (GRCm39) |
V135G |
probably benign |
Het |
Cry1 |
A |
G |
10: 84,979,617 (GRCm39) |
C460R |
probably damaging |
Het |
Cryz |
A |
T |
3: 154,324,191 (GRCm39) |
N192I |
possibly damaging |
Het |
Cyp2d11 |
T |
A |
15: 82,274,332 (GRCm39) |
M350L |
probably benign |
Het |
Exoc3l4 |
C |
G |
12: 111,392,586 (GRCm39) |
A471G |
possibly damaging |
Het |
Fam184a |
G |
A |
10: 53,531,175 (GRCm39) |
T733M |
probably damaging |
Het |
Fmo2 |
C |
T |
1: 162,725,813 (GRCm39) |
C21Y |
probably damaging |
Het |
Glul |
T |
A |
1: 153,782,243 (GRCm39) |
|
probably null |
Het |
Gm5174 |
T |
A |
10: 86,492,372 (GRCm39) |
|
noncoding transcript |
Het |
Gtpbp2 |
A |
G |
17: 46,478,153 (GRCm39) |
I434V |
probably benign |
Het |
Kctd10 |
G |
T |
5: 114,505,410 (GRCm39) |
R195S |
probably benign |
Het |
Lrrc38 |
T |
A |
4: 143,096,419 (GRCm39) |
C243* |
probably null |
Het |
Luc7l2 |
T |
C |
6: 38,542,659 (GRCm39) |
|
probably benign |
Het |
Magi2 |
T |
A |
5: 20,670,670 (GRCm39) |
V111D |
probably damaging |
Het |
Map3k5 |
T |
C |
10: 19,943,666 (GRCm39) |
V590A |
possibly damaging |
Het |
Megf11 |
G |
A |
9: 64,567,713 (GRCm39) |
G401S |
possibly damaging |
Het |
Mgat4d |
G |
A |
8: 84,082,301 (GRCm39) |
|
probably benign |
Het |
Mroh1 |
T |
C |
15: 76,292,245 (GRCm39) |
|
probably null |
Het |
Mx1 |
T |
C |
16: 97,256,432 (GRCm39) |
|
probably benign |
Het |
Nlrp1b |
A |
G |
11: 71,046,815 (GRCm39) |
|
probably benign |
Het |
Ntrk3 |
T |
C |
7: 77,848,600 (GRCm39) |
I759V |
probably damaging |
Het |
Or6c210 |
T |
A |
10: 129,495,678 (GRCm39) |
M1K |
probably null |
Het |
Pde8b |
T |
C |
13: 95,179,955 (GRCm39) |
N318S |
probably damaging |
Het |
Pkd1l1 |
T |
C |
11: 8,839,063 (GRCm39) |
T874A |
probably benign |
Het |
Pkd1l1 |
T |
C |
11: 8,900,422 (GRCm39) |
T40A |
probably benign |
Het |
Prdm2 |
T |
C |
4: 142,861,469 (GRCm39) |
N607S |
possibly damaging |
Het |
Ptprn |
A |
T |
1: 75,234,581 (GRCm39) |
|
probably benign |
Het |
Setx |
T |
G |
2: 29,038,549 (GRCm39) |
I1678S |
possibly damaging |
Het |
Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
Snap91 |
T |
C |
9: 86,674,580 (GRCm39) |
T544A |
possibly damaging |
Het |
Sp8 |
G |
A |
12: 118,813,473 (GRCm39) |
G443S |
probably damaging |
Het |
Stk39 |
C |
T |
2: 68,144,923 (GRCm39) |
G384S |
probably damaging |
Het |
Sva |
T |
A |
6: 42,015,357 (GRCm39) |
M1K |
probably null |
Het |
Trip10 |
A |
G |
17: 57,570,039 (GRCm39) |
D568G |
possibly damaging |
Het |
Trpa1 |
A |
T |
1: 14,973,480 (GRCm39) |
F279L |
probably null |
Het |
Ttc39b |
T |
C |
4: 83,150,999 (GRCm39) |
N532S |
probably benign |
Het |
Ube2w |
A |
G |
1: 16,668,183 (GRCm39) |
S97P |
possibly damaging |
Het |
Uvssa |
C |
T |
5: 33,549,407 (GRCm39) |
T356I |
probably damaging |
Het |
Vmn1r25 |
A |
C |
6: 57,956,223 (GRCm39) |
L22R |
probably damaging |
Het |
Vmn2r112 |
T |
G |
17: 22,820,214 (GRCm39) |
M29R |
possibly damaging |
Het |
Vmn2r71 |
T |
A |
7: 85,273,301 (GRCm39) |
M705K |
probably benign |
Het |
Zfp516 |
C |
A |
18: 82,973,895 (GRCm39) |
A31D |
possibly 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 |
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'- TAGGTCCCCAGCCTAAATATGAGC -3'
(R):5'- GAAGGACACAGTCTCCTCTTGG -3'
Sequencing Primer
(F):5'- CAGCCTAAATATGAGCAAAGTGC -3'
(R):5'- TGGCTTTTCCACTATAAACATTCTC -3'
|
Posted On |
2014-10-15 |