Incidental Mutation 'R7068:Emsy'
ID |
548685 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Emsy
|
Ensembl Gene |
ENSMUSG00000035401 |
Gene Name |
EMSY, BRCA2-interacting transcriptional repressor |
Synonyms |
2210018M11Rik |
MMRRC Submission |
045164-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.520)
|
Stock # |
R7068 (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 T
at 98259968 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 39
(D39E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000145662
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038359]
[ENSMUST00000205276]
[ENSMUST00000205886]
[ENSMUST00000205911]
[ENSMUST00000206619]
[ENSMUST00000206626]
|
AlphaFold |
Q8BMB0 |
Predicted Effect |
unknown
Transcript: ENSMUST00000038359
AA Change: D664E
|
SMART Domains |
Protein: ENSMUSP00000038216 Gene: ENSMUSG00000035401 AA Change: D664E
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: D664E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000205886
AA Change: D39E
PolyPhen 2
Score 0.174 (Sensitivity: 0.92; Specificity: 0.87)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000205911
AA Change: D625E
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206619
AA Change: D650E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206626
AA Change: D114E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsm1 |
A |
G |
7: 119,221,803 (GRCm39) |
H24R |
probably benign |
Het |
Ago2 |
A |
T |
15: 73,018,299 (GRCm39) |
F46L |
probably damaging |
Het |
Amd1 |
A |
G |
10: 40,166,508 (GRCm39) |
F123L |
probably benign |
Het |
Arhgef10 |
T |
C |
8: 15,008,639 (GRCm39) |
F546L |
probably damaging |
Het |
Asic2 |
G |
A |
11: 81,043,081 (GRCm39) |
H71Y |
probably benign |
Het |
Asphd1 |
A |
G |
7: 126,547,850 (GRCm39) |
V151A |
probably benign |
Het |
Best3 |
T |
C |
10: 116,824,543 (GRCm39) |
V3A |
probably damaging |
Het |
C4b |
A |
G |
17: 34,952,451 (GRCm39) |
L1196P |
probably damaging |
Het |
Cd22 |
A |
G |
7: 30,577,504 (GRCm39) |
V3A |
probably benign |
Het |
Cdkl3 |
T |
C |
11: 51,902,154 (GRCm39) |
|
probably null |
Het |
Clcnka |
A |
T |
4: 141,114,421 (GRCm39) |
V631E |
probably damaging |
Het |
Cmya5 |
A |
G |
13: 93,229,205 (GRCm39) |
V1961A |
possibly damaging |
Het |
Dnah14 |
A |
G |
1: 181,597,355 (GRCm39) |
E3559G |
probably benign |
Het |
Fbxl16 |
G |
T |
17: 26,038,485 (GRCm39) |
V477F |
possibly damaging |
Het |
Flt1 |
A |
T |
5: 147,610,444 (GRCm39) |
I393N |
probably damaging |
Het |
Gabra4 |
A |
T |
5: 71,729,402 (GRCm39) |
N433K |
probably benign |
Het |
Gatad1 |
T |
C |
5: 3,693,540 (GRCm39) |
R210G |
probably benign |
Het |
Ghsr |
T |
A |
3: 27,425,986 (GRCm39) |
V14D |
probably benign |
Het |
Glb1l |
A |
G |
1: 75,179,381 (GRCm39) |
Y183H |
probably damaging |
Het |
Hycc1 |
A |
G |
5: 24,169,793 (GRCm39) |
S519P |
possibly damaging |
Het |
Ighv3-4 |
T |
C |
12: 114,217,274 (GRCm39) |
T106A |
probably damaging |
Het |
Ik |
T |
G |
18: 36,888,518 (GRCm39) |
F439V |
possibly damaging |
Het |
Itih5 |
T |
C |
2: 10,254,115 (GRCm39) |
S789P |
probably damaging |
Het |
Kcnj8 |
T |
C |
6: 142,511,965 (GRCm39) |
D214G |
probably damaging |
Het |
Kdm5a |
C |
A |
6: 120,407,176 (GRCm39) |
H1464N |
probably benign |
Het |
Klb |
A |
T |
5: 65,536,683 (GRCm39) |
Y671F |
probably damaging |
Het |
Kremen2 |
C |
A |
17: 23,960,859 (GRCm39) |
R421L |
possibly damaging |
Het |
Mroh9 |
T |
A |
1: 162,866,750 (GRCm39) |
D662V |
probably damaging |
Het |
Mtmr12 |
T |
G |
15: 12,257,756 (GRCm39) |
M278R |
probably null |
Het |
Ndufa8 |
T |
C |
2: 35,934,447 (GRCm39) |
M44V |
possibly damaging |
Het |
Nedd4l |
A |
T |
18: 65,338,722 (GRCm39) |
R695S |
probably damaging |
Het |
Nuf2 |
G |
A |
1: 169,349,988 (GRCm39) |
P97S |
probably damaging |
Het |
Or14c46 |
A |
C |
7: 85,918,745 (GRCm39) |
L84R |
probably damaging |
Het |
Or2ah1 |
T |
C |
2: 85,653,396 (GRCm39) |
V27A |
probably benign |
Het |
Or5ac24 |
T |
C |
16: 59,165,567 (GRCm39) |
T166A |
possibly damaging |
Het |
P4ha2 |
A |
G |
11: 54,001,820 (GRCm39) |
T33A |
probably benign |
Het |
Parp1 |
A |
G |
1: 180,416,233 (GRCm39) |
H544R |
probably damaging |
Het |
Plec |
A |
G |
15: 76,061,969 (GRCm39) |
L2678P |
probably damaging |
Het |
Rad1 |
T |
A |
15: 10,490,379 (GRCm39) |
Y85* |
probably null |
Het |
Sema6d |
A |
G |
2: 124,499,741 (GRCm39) |
I309V |
probably benign |
Het |
Skint2 |
T |
C |
4: 112,481,548 (GRCm39) |
V137A |
probably damaging |
Het |
Slc23a3 |
T |
C |
1: 75,109,877 (GRCm39) |
N130S |
probably benign |
Het |
Slc35f1 |
T |
C |
10: 52,938,596 (GRCm39) |
F176S |
probably damaging |
Het |
Slc44a2 |
T |
A |
9: 21,232,144 (GRCm39) |
Y10N |
probably benign |
Het |
Smarcc1 |
A |
G |
9: 110,014,952 (GRCm39) |
T506A |
probably damaging |
Het |
Smchd1 |
A |
T |
17: 71,694,087 (GRCm39) |
S1219R |
probably benign |
Het |
Smco1 |
A |
G |
16: 32,092,929 (GRCm39) |
N200S |
probably benign |
Het |
Srcap |
A |
G |
7: 127,141,115 (GRCm39) |
T1571A |
probably benign |
Het |
Strip2 |
C |
T |
6: 29,932,207 (GRCm39) |
T459I |
probably benign |
Het |
Tarbp1 |
C |
T |
8: 127,153,773 (GRCm39) |
A1560T |
probably damaging |
Het |
Tcl1b1 |
T |
A |
12: 105,125,952 (GRCm39) |
|
probably benign |
Het |
Tdrd5 |
T |
C |
1: 156,111,841 (GRCm39) |
E436G |
probably damaging |
Het |
Trim31 |
T |
A |
17: 37,209,408 (GRCm39) |
C55S |
probably damaging |
Het |
Tsr1 |
G |
T |
11: 74,794,745 (GRCm39) |
E467* |
probably null |
Het |
Tulp4 |
T |
A |
17: 6,235,564 (GRCm39) |
D178E |
probably damaging |
Het |
Vmn1r30 |
A |
G |
6: 58,411,995 (GRCm39) |
V279A |
possibly damaging |
Het |
Vmn2r98 |
A |
G |
17: 19,285,575 (GRCm39) |
R132G |
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 |
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'- ATCCCTAGAAGGAGCAGCTG -3'
(R):5'- CTGGAAAATGACCTGTAAGTTTAGCG -3'
Sequencing Primer
(F):5'- TCCCTAGAAGGAGCAGCTGTTTAG -3'
(R):5'- CGAATTAGTGACAGTCTTCCAGC -3'
|
Posted On |
2019-05-13 |