Incidental Mutation 'R1102:Emsy'
| ID |
98175 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Emsy
|
| Ensembl Gene |
ENSMUSG00000035401 |
| Gene Name |
EMSY, BRCA2-interacting transcriptional repressor |
| Synonyms |
2210018M11Rik |
| MMRRC Submission |
039175-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.577)
|
| Stock # |
R1102 (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 98251796 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 735
(T735A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146150
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038359]
[ENSMUST00000205276]
[ENSMUST00000205886]
[ENSMUST00000205911]
[ENSMUST00000206619]
[ENSMUST00000206626]
|
| AlphaFold |
Q8BMB0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000038359
AA Change: T749A
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000038216
Gene: ENSMUSG00000035401
AA Change: T749A
| 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: T749A
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205485
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205886
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205911
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000206619
AA Change: T735A
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000206626
AA Change: T199A
PolyPhen 2
Score 0.464 (Sensitivity: 0.89; Specificity: 0.90)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206813
|
| Meta Mutation Damage Score |
0.1061 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.3%
- 20x: 88.8%
|
| Validation Efficiency |
98% (60/61) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700010I14Rik |
C |
T |
17: 9,211,460 (GRCm39) |
T203M |
probably damaging |
Het |
| Acy3 |
C |
T |
19: 4,037,850 (GRCm39) |
T119I |
probably damaging |
Het |
| Ccdc6 |
C |
A |
10: 70,023,636 (GRCm39) |
H400Q |
possibly damaging |
Het |
| Ccna1 |
T |
C |
3: 54,958,281 (GRCm39) |
D134G |
probably damaging |
Het |
| Cct2 |
A |
T |
10: 116,896,545 (GRCm39) |
|
probably null |
Het |
| Cd36 |
A |
G |
5: 18,019,211 (GRCm39) |
F170S |
possibly damaging |
Het |
| Cep350 |
G |
A |
1: 155,807,264 (GRCm39) |
P718S |
probably damaging |
Het |
| Cimip1 |
T |
A |
2: 173,364,516 (GRCm39) |
D20E |
probably damaging |
Het |
| Ctnna3 |
A |
T |
10: 64,421,774 (GRCm39) |
I523L |
probably benign |
Het |
| Dnah1 |
G |
T |
14: 31,018,414 (GRCm39) |
Y1405* |
probably null |
Het |
| Dnah8 |
T |
A |
17: 31,073,738 (GRCm39) |
|
probably null |
Het |
| Drd3 |
T |
C |
16: 43,582,846 (GRCm39) |
L113S |
probably damaging |
Het |
| Epha5 |
A |
G |
5: 84,381,434 (GRCm39) |
|
probably benign |
Het |
| Ezhip |
GTCATCATCATCATC |
GTCATCATCATCATCATC |
X: 5,994,645 (GRCm39) |
|
probably benign |
Het |
| Fbxo10 |
A |
G |
4: 45,043,672 (GRCm39) |
L717P |
probably damaging |
Het |
| Galnt10 |
T |
C |
11: 57,671,871 (GRCm39) |
|
probably benign |
Het |
| Gle1 |
T |
G |
2: 29,834,066 (GRCm39) |
I437M |
possibly damaging |
Het |
| Gpr137b |
T |
C |
13: 13,539,616 (GRCm39) |
|
probably benign |
Het |
| Gsta1 |
T |
C |
9: 78,149,777 (GRCm39) |
F197L |
probably damaging |
Het |
| Icam1 |
G |
A |
9: 20,939,132 (GRCm39) |
V502M |
possibly damaging |
Het |
| Ido1 |
T |
A |
8: 25,083,156 (GRCm39) |
I90F |
probably damaging |
Het |
| Il4ra |
G |
A |
7: 125,173,889 (GRCm39) |
|
probably null |
Het |
| Med12l |
T |
A |
3: 59,152,257 (GRCm39) |
M1014K |
probably damaging |
Het |
| Mmp13 |
A |
G |
9: 7,272,952 (GRCm39) |
E104G |
possibly damaging |
Het |
| Mms19 |
T |
C |
19: 41,939,284 (GRCm39) |
E495G |
possibly damaging |
Het |
| Mrc2 |
A |
G |
11: 105,231,647 (GRCm39) |
I820V |
probably benign |
Het |
| Naip6 |
T |
C |
13: 100,440,923 (GRCm39) |
K286E |
possibly damaging |
Het |
| Ndrg1 |
T |
C |
15: 66,816,685 (GRCm39) |
Y110C |
probably damaging |
Het |
| Or1e1c |
G |
A |
11: 73,265,700 (GRCm39) |
V45I |
probably benign |
Het |
| Or4a78 |
A |
T |
2: 89,497,814 (GRCm39) |
C139S |
probably damaging |
Het |
| Or5b118 |
T |
C |
19: 13,448,771 (GRCm39) |
C146R |
probably damaging |
Het |
| Or5b3 |
G |
A |
19: 13,388,454 (GRCm39) |
V174M |
probably damaging |
Het |
| Oxtr |
C |
T |
6: 112,454,138 (GRCm39) |
R42Q |
probably benign |
Het |
| Pdzd4 |
G |
A |
X: 72,839,052 (GRCm39) |
R419C |
probably damaging |
Het |
| Pnpla7 |
G |
T |
2: 24,886,177 (GRCm39) |
M3I |
probably damaging |
Het |
| Popdc3 |
A |
G |
10: 45,192,642 (GRCm39) |
|
probably benign |
Het |
| Ppp5c |
A |
G |
7: 16,756,368 (GRCm39) |
F112S |
probably benign |
Het |
| Rbp3 |
A |
G |
14: 33,678,313 (GRCm39) |
T754A |
possibly damaging |
Het |
| Reep6 |
A |
G |
10: 80,171,080 (GRCm39) |
T319A |
probably benign |
Het |
| Rfx3 |
A |
G |
19: 27,845,000 (GRCm39) |
V43A |
possibly damaging |
Het |
| Rint1 |
A |
G |
5: 24,010,565 (GRCm39) |
|
probably benign |
Het |
| Sacm1l |
T |
G |
9: 123,411,363 (GRCm39) |
V384G |
probably damaging |
Het |
| Shox2 |
A |
T |
3: 66,885,628 (GRCm39) |
L149Q |
probably damaging |
Het |
| Sipa1 |
T |
C |
19: 5,702,782 (GRCm39) |
H805R |
probably benign |
Het |
| Skic2 |
T |
C |
17: 35,059,082 (GRCm39) |
D1095G |
probably benign |
Het |
| Slc5a3 |
G |
T |
16: 91,874,765 (GRCm39) |
W274L |
probably damaging |
Het |
| Spata31e4 |
A |
G |
13: 50,857,118 (GRCm39) |
T919A |
probably benign |
Het |
| Sptbn1 |
G |
T |
11: 30,070,785 (GRCm39) |
H1524Q |
possibly damaging |
Het |
| Ssr1 |
G |
T |
13: 38,171,591 (GRCm39) |
Q149K |
probably benign |
Het |
| Taf7l2 |
T |
C |
10: 115,949,299 (GRCm39) |
S76G |
probably damaging |
Het |
| Thsd7a |
T |
C |
6: 12,555,701 (GRCm39) |
D61G |
possibly damaging |
Het |
| Tmem245 |
T |
C |
4: 56,903,200 (GRCm39) |
|
probably benign |
Het |
| Tmem74 |
T |
C |
15: 43,730,186 (GRCm39) |
T286A |
probably benign |
Het |
| Tnc |
T |
C |
4: 63,938,705 (GRCm39) |
N45D |
probably benign |
Het |
| Trdmt1 |
T |
G |
2: 13,528,225 (GRCm39) |
|
probably benign |
Het |
| Uty |
A |
T |
Y: 1,174,741 (GRCm39) |
Y220N |
probably damaging |
Het |
| Vdr |
T |
C |
15: 97,757,002 (GRCm39) |
Y290C |
probably damaging |
Het |
| Vmn2r19 |
T |
A |
6: 123,313,132 (GRCm39) |
M734K |
probably benign |
Het |
| Vmn2r53 |
T |
C |
7: 12,332,410 (GRCm39) |
D413G |
possibly damaging |
Het |
| Vps45 |
A |
G |
3: 95,950,253 (GRCm39) |
|
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 |
|
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 |
|
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'- GCAACTGGGCTACACCTATCCTTG -3'
(R):5'- AGTCAATGCCTTCTGGGACCTCAC -3'
Sequencing Primer
(F):5'- GAAGTAGAAGTCACTCTGTCTACTC -3'
(R):5'- GGGACCTCACAGTCTTCTTAGAG -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation