Incidental Mutation 'IGL03089:Emsy'
| ID |
418268 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Emsy
|
| Ensembl Gene |
ENSMUSG00000035401 |
| Gene Name |
EMSY, BRCA2-interacting transcriptional repressor |
| Synonyms |
2210018M11Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.520)
|
| Stock # |
IGL03089
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
98236344-98305990 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 98286473 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 226
(Q226*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146150
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038359]
[ENSMUST00000205276]
[ENSMUST00000205911]
[ENSMUST00000206611]
[ENSMUST00000206619]
|
| AlphaFold |
Q8BMB0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000038359
AA Change: Q240*
|
| SMART Domains |
Protein: ENSMUSP00000038216
Gene: ENSMUSG00000035401
AA Change: Q240*
| 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 null
Transcript: ENSMUST00000205276
AA Change: Q240*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000205911
AA Change: Q201*
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206256
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000206611
AA Change: Q277*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000206619
AA Change: Q226*
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl4 |
A |
G |
3: 95,584,556 (GRCm39) |
S947P |
probably damaging |
Het |
| Agl |
T |
A |
3: 116,574,672 (GRCm39) |
H709L |
probably damaging |
Het |
| Alpi |
T |
A |
1: 87,027,830 (GRCm39) |
D250V |
probably benign |
Het |
| Anapc4 |
A |
G |
5: 53,023,740 (GRCm39) |
S735G |
probably benign |
Het |
| Ank1 |
A |
T |
8: 23,594,848 (GRCm39) |
I611L |
probably benign |
Het |
| Canx |
A |
G |
11: 50,195,309 (GRCm39) |
V253A |
possibly damaging |
Het |
| Cbfa2t3 |
A |
T |
8: 123,361,873 (GRCm39) |
I383N |
probably damaging |
Het |
| Ccn3 |
C |
T |
15: 54,612,680 (GRCm39) |
R230C |
possibly damaging |
Het |
| Cdc23 |
T |
C |
18: 34,767,513 (GRCm39) |
Y519C |
probably damaging |
Het |
| Celsr3 |
T |
A |
9: 108,703,806 (GRCm39) |
N96K |
probably benign |
Het |
| Clptm1 |
A |
G |
7: 19,371,072 (GRCm39) |
Y355H |
probably damaging |
Het |
| Col6a5 |
C |
T |
9: 105,811,038 (GRCm39) |
S827N |
unknown |
Het |
| Cyp21a1 |
G |
T |
17: 35,022,420 (GRCm39) |
|
probably null |
Het |
| Cyp24a1 |
T |
G |
2: 170,327,886 (GRCm39) |
H452P |
probably damaging |
Het |
| Cyp2c39 |
T |
A |
19: 39,552,295 (GRCm39) |
H329Q |
probably benign |
Het |
| D630003M21Rik |
C |
T |
2: 158,058,664 (GRCm39) |
R412Q |
probably benign |
Het |
| Dennd1b |
G |
A |
1: 139,029,767 (GRCm39) |
R308Q |
possibly damaging |
Het |
| Deup1 |
T |
C |
9: 15,519,096 (GRCm39) |
S137G |
possibly damaging |
Het |
| Dmbt1 |
T |
A |
7: 130,712,778 (GRCm39) |
I1583N |
probably damaging |
Het |
| Dvl1 |
G |
A |
4: 155,939,609 (GRCm39) |
V320M |
probably damaging |
Het |
| Elmod3 |
A |
G |
6: 72,546,299 (GRCm39) |
S254P |
probably damaging |
Het |
| Ephb6 |
C |
A |
6: 41,591,108 (GRCm39) |
D88E |
probably damaging |
Het |
| Exoc1 |
A |
G |
5: 76,690,005 (GRCm39) |
M182V |
possibly damaging |
Het |
| Fbxw4 |
T |
G |
19: 45,580,160 (GRCm39) |
|
probably benign |
Het |
| Fgr |
A |
G |
4: 132,713,577 (GRCm39) |
D35G |
probably damaging |
Het |
| Gm20547 |
A |
T |
17: 35,080,008 (GRCm39) |
D366E |
probably damaging |
Het |
| Gucy1a1 |
T |
C |
3: 82,004,988 (GRCm39) |
N599S |
probably damaging |
Het |
| Ighg2b |
G |
A |
12: 113,270,298 (GRCm39) |
P240L |
probably damaging |
Het |
| Jak3 |
A |
G |
8: 72,138,727 (GRCm39) |
D975G |
probably benign |
Het |
| Klhl26 |
A |
T |
8: 70,908,283 (GRCm39) |
N24K |
probably benign |
Het |
| Letm1 |
T |
A |
5: 33,918,202 (GRCm39) |
E314D |
probably damaging |
Het |
| Lin54 |
A |
T |
5: 100,598,852 (GRCm39) |
F319L |
probably damaging |
Het |
| Lrp5 |
A |
T |
19: 3,670,314 (GRCm39) |
|
probably null |
Het |
| Lvrn |
T |
C |
18: 47,013,776 (GRCm39) |
F486S |
probably damaging |
Het |
| Or1e19 |
T |
C |
11: 73,316,009 (GRCm39) |
T267A |
probably benign |
Het |
| Or2h1b |
A |
G |
17: 37,462,534 (GRCm39) |
C110R |
probably damaging |
Het |
| Or4c113 |
T |
C |
2: 88,885,357 (GRCm39) |
R138G |
probably benign |
Het |
| Or51m1 |
A |
C |
7: 103,578,329 (GRCm39) |
I100L |
probably benign |
Het |
| Or8g54 |
A |
T |
9: 39,706,977 (GRCm39) |
Y102F |
probably benign |
Het |
| Pramel24 |
A |
G |
4: 143,452,703 (GRCm39) |
T45A |
probably benign |
Het |
| Sap30bp |
T |
A |
11: 115,848,214 (GRCm39) |
M112K |
possibly damaging |
Het |
| Sbno1 |
A |
G |
5: 124,525,374 (GRCm39) |
|
probably benign |
Het |
| Slc30a5 |
T |
C |
13: 100,950,338 (GRCm39) |
I307V |
probably benign |
Het |
| Trim37 |
T |
A |
11: 87,080,963 (GRCm39) |
D21E |
probably damaging |
Het |
| Usp34 |
T |
C |
11: 23,396,958 (GRCm39) |
F614S |
possibly damaging |
Het |
| Usp39 |
A |
C |
6: 72,305,622 (GRCm39) |
F387C |
probably damaging |
Het |
| Vipas39 |
C |
T |
12: 87,300,028 (GRCm39) |
C149Y |
probably damaging |
Het |
| Vmn2r107 |
C |
A |
17: 20,595,974 (GRCm39) |
H842Q |
probably benign |
Het |
| Vps18 |
T |
A |
2: 119,123,658 (GRCm39) |
V195E |
probably benign |
Het |
| Vsx1 |
A |
G |
2: 150,527,510 (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 |
|
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 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation