Incidental Mutation 'R9660:Emsy'
| ID |
727518 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Emsy
|
| Ensembl Gene |
ENSMUSG00000035401 |
| Gene Name |
EMSY, BRCA2-interacting transcriptional repressor |
| Synonyms |
2210018M11Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.520)
|
| Stock # |
R9660 (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 G
at 98262285 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 598
(I598T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145858
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038359]
[ENSMUST00000205276]
[ENSMUST00000205886]
[ENSMUST00000205911]
[ENSMUST00000206619]
[ENSMUST00000206626]
|
| AlphaFold |
Q8BMB0 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000038359
AA Change: I598T
|
| SMART Domains |
Protein: ENSMUSP00000038216
Gene: ENSMUSG00000035401
AA Change: I598T
| 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: I598T
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205886
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000205911
AA Change: I559T
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000206619
AA Change: I584T
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000206626
AA Change: I48T
PolyPhen 2
Score 0.717 (Sensitivity: 0.86; Specificity: 0.92)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
A |
G |
7: 119,851,478 (GRCm39) |
M819V |
probably benign |
Het |
| Abca5 |
T |
A |
11: 110,168,248 (GRCm39) |
T1461S |
possibly damaging |
Het |
| Actl6b |
C |
T |
5: 137,562,766 (GRCm39) |
R161C |
probably damaging |
Het |
| Aoc3 |
C |
G |
11: 101,221,914 (GRCm39) |
P50R |
possibly damaging |
Het |
| Atr |
G |
A |
9: 95,797,050 (GRCm39) |
A1698T |
probably benign |
Het |
| Caml |
T |
A |
13: 55,779,670 (GRCm39) |
S248T |
possibly damaging |
Het |
| Cdh11 |
C |
T |
8: 103,384,879 (GRCm39) |
G399S |
possibly damaging |
Het |
| Chrna10 |
G |
T |
7: 101,761,416 (GRCm39) |
L392I |
probably benign |
Het |
| Clip2 |
C |
T |
5: 134,533,616 (GRCm39) |
R487Q |
probably benign |
Het |
| Copg1 |
A |
G |
6: 87,879,225 (GRCm39) |
I424V |
probably damaging |
Het |
| Cwh43 |
A |
T |
5: 73,565,629 (GRCm39) |
N65Y |
possibly damaging |
Het |
| Defb1 |
A |
G |
8: 22,284,486 (GRCm39) |
Y35C |
probably damaging |
Het |
| Disp2 |
T |
C |
2: 118,620,627 (GRCm39) |
V453A |
probably benign |
Het |
| Dpp9 |
A |
G |
17: 56,494,458 (GRCm39) |
Y834H |
probably damaging |
Het |
| Entpd2 |
C |
T |
2: 25,288,153 (GRCm39) |
R126C |
probably damaging |
Het |
| Fbxl17 |
A |
T |
17: 63,806,426 (GRCm39) |
M196K |
probably benign |
Het |
| Gcc1 |
T |
C |
6: 28,420,544 (GRCm39) |
R258G |
probably damaging |
Het |
| Gga2 |
A |
T |
7: 121,606,494 (GRCm39) |
M157K |
possibly damaging |
Het |
| Gna11 |
T |
C |
10: 81,370,918 (GRCm39) |
N106S |
probably benign |
Het |
| Gtf3c1 |
A |
C |
7: 125,262,199 (GRCm39) |
S1116A |
possibly damaging |
Het |
| Gucy2d |
C |
A |
7: 98,099,064 (GRCm39) |
D294E |
probably damaging |
Het |
| Igkv12-46 |
G |
T |
6: 69,741,967 (GRCm39) |
P4T |
possibly damaging |
Het |
| Iqcf5 |
A |
T |
9: 106,393,168 (GRCm39) |
I142L |
probably damaging |
Het |
| Klhdc9 |
A |
G |
1: 171,187,357 (GRCm39) |
S214P |
probably damaging |
Het |
| Kmt2e |
T |
C |
5: 23,683,617 (GRCm39) |
Y292H |
probably damaging |
Het |
| Lgr6 |
A |
G |
1: 134,915,245 (GRCm39) |
L778P |
probably damaging |
Het |
| Lrrk2 |
A |
G |
15: 91,618,228 (GRCm39) |
N909S |
probably benign |
Het |
| Ly75 |
A |
G |
2: 60,154,184 (GRCm39) |
S1088P |
probably damaging |
Het |
| Mei1 |
G |
A |
15: 81,966,098 (GRCm39) |
G240D |
|
Het |
| Miox |
A |
T |
15: 89,218,703 (GRCm39) |
|
probably benign |
Het |
| Myo1e |
A |
G |
9: 70,223,924 (GRCm39) |
Y128C |
probably damaging |
Het |
| Necab2 |
T |
C |
8: 120,189,403 (GRCm39) |
V191A |
possibly damaging |
Het |
| Nlrp9a |
T |
A |
7: 26,256,915 (GRCm39) |
Y178N |
probably damaging |
Het |
| Nr4a3 |
A |
G |
4: 48,051,353 (GRCm39) |
T36A |
probably benign |
Het |
| Nup210l |
A |
G |
3: 90,105,402 (GRCm39) |
T1517A |
probably benign |
Het |
| Nup210l |
C |
T |
3: 90,107,173 (GRCm39) |
P1570L |
probably benign |
Het |
| Or4a27 |
T |
C |
2: 88,559,142 (GRCm39) |
K267R |
probably damaging |
Het |
| Or4g17 |
T |
G |
2: 111,210,239 (GRCm39) |
I298R |
probably damaging |
Het |
| Or4p23 |
T |
C |
2: 88,576,872 (GRCm39) |
Y120C |
probably damaging |
Het |
| Or51h7 |
C |
T |
7: 102,591,259 (GRCm39) |
C175Y |
probably damaging |
Het |
| Pcnx2 |
A |
T |
8: 126,487,592 (GRCm39) |
S1804T |
probably damaging |
Het |
| Pdcd11 |
T |
A |
19: 47,082,191 (GRCm39) |
V35D |
possibly damaging |
Het |
| Pde10a |
C |
A |
17: 9,170,370 (GRCm39) |
T347K |
probably damaging |
Het |
| Rcc1l |
A |
G |
5: 134,182,977 (GRCm39) |
Y432H |
probably benign |
Het |
| Rgs22 |
A |
T |
15: 36,040,856 (GRCm39) |
V1001E |
probably benign |
Het |
| Ripor3 |
T |
A |
2: 167,831,646 (GRCm39) |
D385V |
probably damaging |
Het |
| Rrbp1 |
T |
C |
2: 143,831,178 (GRCm39) |
K330E |
probably damaging |
Het |
| Ryr3 |
T |
G |
2: 112,664,074 (GRCm39) |
D1759A |
probably benign |
Het |
| Scube3 |
A |
G |
17: 28,371,414 (GRCm39) |
D43G |
probably benign |
Het |
| Sec24b |
A |
G |
3: 129,790,422 (GRCm39) |
I701T |
probably damaging |
Het |
| Setd5 |
G |
T |
6: 113,128,366 (GRCm39) |
V1440L |
probably benign |
Het |
| Sik3 |
A |
G |
9: 46,106,142 (GRCm39) |
K337E |
possibly damaging |
Het |
| Slc14a1 |
C |
A |
18: 78,152,807 (GRCm39) |
A367S |
probably damaging |
Het |
| Slc1a6 |
T |
A |
10: 78,648,698 (GRCm39) |
M473K |
probably benign |
Het |
| Spag16 |
A |
G |
1: 69,962,842 (GRCm39) |
R330G |
probably benign |
Het |
| Spag6 |
C |
A |
2: 18,704,047 (GRCm39) |
Q32K |
probably benign |
Het |
| Sspo |
G |
A |
6: 48,432,707 (GRCm39) |
G861D |
probably damaging |
Het |
| Togaram2 |
T |
A |
17: 72,024,365 (GRCm39) |
S850T |
probably damaging |
Het |
| Trbv15 |
A |
T |
6: 41,118,550 (GRCm39) |
E102V |
possibly damaging |
Het |
| Trim43b |
G |
T |
9: 88,973,395 (GRCm39) |
H113N |
probably benign |
Het |
| Trpm2 |
T |
A |
10: 77,766,389 (GRCm39) |
I877L |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,599,152 (GRCm39) |
I19286V |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,715,357 (GRCm39) |
E7912K |
unknown |
Het |
| Tubb6 |
A |
G |
18: 67,534,671 (GRCm39) |
H190R |
probably benign |
Het |
| Vmn1r214 |
T |
C |
13: 23,219,007 (GRCm39) |
V167A |
probably benign |
Het |
| Vwf |
C |
A |
6: 125,568,670 (GRCm39) |
L398I |
possibly damaging |
Het |
| Zfp9 |
G |
T |
6: 118,443,851 (GRCm39) |
A58E |
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 |
|
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 |
|
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'- GCCTTTGCTCATATTGTGACAG -3'
(R):5'- ACTTTGTTGCATAATCTACAGTCC -3'
Sequencing Primer
(F):5'- CAAGCTGATCTCTGTGAGCTCAAG -3'
(R):5'- TGCTTTTTCAGTGAAAGGACAG -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation