Incidental Mutation 'R4078:Emsy'
| ID |
316690 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Emsy
|
| Ensembl Gene |
ENSMUSG00000035401 |
| Gene Name |
EMSY, BRCA2-interacting transcriptional repressor |
| Synonyms |
2210018M11Rik |
| MMRRC Submission |
041623-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.520)
|
| Stock # |
R4078 (G1)
|
| Quality Score |
207 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
98236344-98305990 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 98239932 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 1108
(P1108S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038216
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038359]
[ENSMUST00000205276]
[ENSMUST00000205886]
[ENSMUST00000205911]
|
| AlphaFold |
Q8BMB0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000038359
AA Change: P1108S
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000038216
Gene: ENSMUSG00000035401
AA Change: P1108S
| 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: P1254S
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| 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: P1060S
|
| Meta Mutation Damage Score |
0.0794 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
96% (70/73) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931429L15Rik |
A |
T |
9: 46,215,359 (GRCm39) |
L367* |
probably null |
Het |
| Agfg1 |
T |
A |
1: 82,860,008 (GRCm39) |
S312T |
possibly damaging |
Het |
| Akap8 |
C |
T |
17: 32,531,272 (GRCm39) |
R380Q |
probably damaging |
Het |
| Ambp |
T |
A |
4: 63,068,680 (GRCm39) |
K112N |
probably damaging |
Het |
| Arl5c |
A |
T |
11: 97,884,327 (GRCm39) |
I88N |
probably damaging |
Het |
| Asah1 |
A |
G |
8: 41,807,119 (GRCm39) |
S102P |
probably damaging |
Het |
| Atp10b |
T |
C |
11: 43,044,110 (GRCm39) |
V112A |
probably benign |
Het |
| C3 |
C |
T |
17: 57,512,303 (GRCm39) |
D1542N |
possibly damaging |
Het |
| Cabs1 |
G |
A |
5: 88,128,161 (GRCm39) |
E271K |
probably damaging |
Het |
| Car8 |
T |
C |
4: 8,169,731 (GRCm39) |
K259R |
possibly damaging |
Het |
| Ccdc18 |
C |
T |
5: 108,306,394 (GRCm39) |
Q270* |
probably null |
Het |
| Cdh4 |
A |
G |
2: 179,530,966 (GRCm39) |
E616G |
possibly damaging |
Het |
| Cdk11b |
C |
T |
4: 155,724,204 (GRCm39) |
|
probably benign |
Het |
| Cfap74 |
A |
G |
4: 155,540,128 (GRCm39) |
D975G |
probably damaging |
Het |
| Col27a1 |
G |
T |
4: 63,142,669 (GRCm39) |
R119L |
probably damaging |
Het |
| Col7a1 |
A |
G |
9: 108,790,059 (GRCm39) |
N918S |
unknown |
Het |
| Colec11 |
T |
C |
12: 28,645,246 (GRCm39) |
N142D |
possibly damaging |
Het |
| Cox7a2 |
G |
A |
9: 79,665,852 (GRCm39) |
Q10* |
probably null |
Het |
| Cyp2b23 |
C |
A |
7: 26,372,517 (GRCm39) |
G366V |
probably damaging |
Het |
| Eif1ad3 |
A |
G |
12: 87,843,401 (GRCm39) |
K16R |
unknown |
Het |
| Etl4 |
A |
T |
2: 20,812,772 (GRCm39) |
R1442S |
probably damaging |
Het |
| Fam151a |
G |
A |
4: 106,604,954 (GRCm39) |
G439S |
probably benign |
Het |
| Fat1 |
C |
T |
8: 45,442,159 (GRCm39) |
P1154S |
probably damaging |
Het |
| Fat4 |
G |
A |
3: 39,034,169 (GRCm39) |
S2607N |
probably damaging |
Het |
| Fzd7 |
T |
A |
1: 59,522,948 (GRCm39) |
M277K |
possibly damaging |
Het |
| Fzd9 |
A |
G |
5: 135,278,490 (GRCm39) |
V465A |
probably benign |
Het |
| Gm38706 |
G |
T |
6: 130,460,700 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9758 |
T |
A |
5: 14,961,536 (GRCm39) |
|
probably null |
Het |
| Gpr3 |
T |
C |
4: 132,938,226 (GRCm39) |
T149A |
probably damaging |
Het |
| Heatr9 |
C |
A |
11: 83,403,254 (GRCm39) |
K428N |
probably benign |
Het |
| Hgs |
T |
A |
11: 120,373,874 (GRCm39) |
S723T |
probably benign |
Het |
| Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
| Kcnn3 |
A |
G |
3: 89,568,495 (GRCm39) |
K591R |
possibly damaging |
Het |
| Khdrbs2 |
T |
C |
1: 32,558,895 (GRCm39) |
|
probably benign |
Het |
| Lpp |
G |
A |
16: 24,500,611 (GRCm39) |
R141H |
probably damaging |
Het |
| Lrpap1 |
A |
G |
5: 35,253,381 (GRCm39) |
I261T |
possibly damaging |
Het |
| Macf1 |
T |
A |
4: 123,365,884 (GRCm39) |
Q2959L |
probably benign |
Het |
| Mipep |
T |
A |
14: 61,083,926 (GRCm39) |
Y606N |
probably damaging |
Het |
| Mroh5 |
C |
A |
15: 73,657,889 (GRCm39) |
C547F |
possibly damaging |
Het |
| Nek3 |
A |
T |
8: 22,622,153 (GRCm39) |
W363R |
probably damaging |
Het |
| Nphs1 |
T |
A |
7: 30,166,945 (GRCm39) |
Y717* |
probably null |
Het |
| Obscn |
A |
G |
11: 58,929,189 (GRCm39) |
V6145A |
probably benign |
Het |
| Optc |
T |
C |
1: 133,826,087 (GRCm39) |
H270R |
probably damaging |
Het |
| Or1l4 |
T |
A |
2: 37,092,024 (GRCm39) |
I257N |
possibly damaging |
Het |
| Or2l5 |
T |
A |
16: 19,333,982 (GRCm39) |
M135L |
possibly damaging |
Het |
| Or5p80 |
T |
A |
7: 108,230,114 (GRCm39) |
M305K |
probably benign |
Het |
| Or9r7 |
G |
A |
10: 129,962,587 (GRCm39) |
T113I |
probably damaging |
Het |
| Pik3c2g |
A |
G |
6: 139,612,608 (GRCm39) |
|
probably benign |
Het |
| Pms1 |
A |
T |
1: 53,306,948 (GRCm39) |
|
probably null |
Het |
| Pramel51 |
T |
A |
12: 88,142,683 (GRCm39) |
I312F |
probably benign |
Het |
| Prkg1 |
T |
C |
19: 31,562,978 (GRCm39) |
Y156C |
probably damaging |
Het |
| Prol1 |
A |
G |
5: 88,476,075 (GRCm39) |
N155S |
unknown |
Het |
| Rapgefl1 |
A |
G |
11: 98,740,803 (GRCm39) |
T552A |
probably benign |
Het |
| Slc22a28 |
T |
A |
19: 8,078,777 (GRCm39) |
H304L |
probably benign |
Het |
| Stox1 |
C |
T |
10: 62,501,810 (GRCm39) |
C250Y |
probably benign |
Het |
| Sult2a3 |
A |
G |
7: 13,855,662 (GRCm39) |
W65R |
possibly damaging |
Het |
| Syce1 |
C |
A |
7: 140,359,809 (GRCm39) |
L83F |
probably damaging |
Het |
| Syne2 |
C |
A |
12: 76,082,398 (GRCm39) |
T4857K |
probably damaging |
Het |
| Tcp1 |
T |
C |
17: 13,136,970 (GRCm39) |
L64S |
probably benign |
Het |
| Thap11 |
G |
T |
8: 106,582,548 (GRCm39) |
E186* |
probably null |
Het |
| Tmem67 |
A |
G |
4: 12,040,633 (GRCm39) |
|
probably null |
Het |
| Trappc10 |
T |
C |
10: 78,046,216 (GRCm39) |
Y458C |
probably damaging |
Het |
| Ufd1 |
A |
G |
16: 18,644,528 (GRCm39) |
Y197C |
possibly damaging |
Het |
| Ung |
G |
T |
5: 114,268,684 (GRCm39) |
|
probably null |
Het |
| Usp49 |
A |
G |
17: 47,985,674 (GRCm39) |
T245A |
probably damaging |
Het |
| Washc1 |
A |
T |
17: 66,424,156 (GRCm39) |
E289D |
probably benign |
Het |
| Zc3h7a |
A |
T |
16: 10,969,011 (GRCm39) |
V450E |
probably benign |
Het |
| Zcchc17 |
T |
G |
4: 130,223,418 (GRCm39) |
I123L |
possibly damaging |
Het |
| Zfp955a |
A |
G |
17: 33,460,675 (GRCm39) |
Y486H |
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 |
|
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'- CTAGGTCCCCAGCCTAAATATGAG -3'
(R):5'- AGGACACAGTCTCCTCTTGG -3'
Sequencing Primer
(F):5'- CAGCCTAAATATGAGCAAAGTGC -3'
(R):5'- TGGCTTTTCCACTATAAACATTCTC -3'
|
| Posted On |
2015-05-15 |
Incidental Mutation