Incidental Mutation 'R8472:Emsy'
| ID |
657073 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Emsy
|
| Ensembl Gene |
ENSMUSG00000035401 |
| Gene Name |
EMSY, BRCA2-interacting transcriptional repressor |
| Synonyms |
2210018M11Rik |
| MMRRC Submission |
067916-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.577)
|
| Stock # |
R8472 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
98236344-98305990 bp(-) (GRCm39) |
| Type of Mutation |
start gained |
| DNA Base Change (assembly) |
T to C
at 98304037 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146150
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038359]
[ENSMUST00000205276]
[ENSMUST00000205911]
[ENSMUST00000206611]
[ENSMUST00000206619]
|
| AlphaFold |
Q8BMB0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038359
|
| SMART Domains |
Protein: ENSMUSP00000038216
Gene: ENSMUSG00000035401
| 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
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205911
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206611
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206619
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (61/61) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900092C05Rik |
T |
A |
7: 12,246,568 (GRCm39) |
H21Q |
possibly damaging |
Het |
| Ccdc7a |
A |
G |
8: 129,754,138 (GRCm39) |
S152P |
probably damaging |
Het |
| Ccnj |
T |
C |
19: 40,833,608 (GRCm39) |
S222P |
probably damaging |
Het |
| Cdcp2 |
C |
T |
4: 106,959,981 (GRCm39) |
A132V |
probably damaging |
Het |
| Cnksr3 |
G |
T |
10: 7,084,532 (GRCm39) |
P71Q |
probably damaging |
Het |
| Col9a3 |
C |
T |
2: 180,247,057 (GRCm39) |
P185L |
probably damaging |
Het |
| Cpm |
T |
C |
10: 117,515,883 (GRCm39) |
V319A |
probably damaging |
Het |
| Ctxn2 |
A |
G |
2: 124,989,528 (GRCm39) |
I52V |
possibly damaging |
Het |
| Cyp2c66 |
A |
T |
19: 39,165,021 (GRCm39) |
H334L |
probably benign |
Het |
| Dab1 |
A |
G |
4: 104,336,439 (GRCm39) |
K12E |
possibly damaging |
Het |
| Efcab3 |
A |
T |
11: 104,709,463 (GRCm39) |
D1815V |
probably benign |
Het |
| Etv4 |
G |
T |
11: 101,674,827 (GRCm39) |
D56E |
probably damaging |
Het |
| Exoc3l2 |
C |
T |
7: 19,215,190 (GRCm39) |
R484* |
probably null |
Het |
| Extl1 |
A |
G |
4: 134,098,603 (GRCm39) |
C143R |
probably benign |
Het |
| Fat3 |
T |
C |
9: 16,286,563 (GRCm39) |
I987V |
possibly damaging |
Het |
| Fbn1 |
A |
C |
2: 125,151,722 (GRCm39) |
C2511G |
probably damaging |
Het |
| Fer |
T |
A |
17: 64,280,144 (GRCm39) |
S72T |
probably benign |
Het |
| Gdf2 |
A |
G |
14: 33,666,797 (GRCm39) |
D173G |
probably damaging |
Het |
| Grhl3 |
T |
C |
4: 135,284,176 (GRCm39) |
E222G |
probably benign |
Het |
| Gria1 |
A |
T |
11: 57,218,410 (GRCm39) |
M819L |
probably benign |
Het |
| Gsap |
A |
T |
5: 21,427,432 (GRCm39) |
R187* |
probably null |
Het |
| Heatr6 |
A |
G |
11: 83,656,679 (GRCm39) |
N314D |
probably benign |
Het |
| Hspd1 |
T |
C |
1: 55,117,505 (GRCm39) |
D555G |
probably benign |
Het |
| Ighv3-4 |
T |
C |
12: 114,217,649 (GRCm39) |
Y8C |
probably benign |
Het |
| Lcmt2 |
A |
G |
2: 120,970,729 (GRCm39) |
V118A |
probably damaging |
Het |
| Lmf2 |
T |
C |
15: 89,239,005 (GRCm39) |
E37G |
possibly damaging |
Het |
| Macf1 |
A |
G |
4: 123,346,795 (GRCm39) |
L1161P |
probably damaging |
Het |
| Mbip |
T |
A |
12: 56,377,054 (GRCm39) |
|
probably null |
Het |
| Mgam |
A |
T |
6: 40,671,460 (GRCm39) |
|
probably null |
Het |
| Mmrn1 |
G |
A |
6: 60,965,380 (GRCm39) |
S1136N |
probably damaging |
Het |
| Mms22l |
T |
C |
4: 24,502,943 (GRCm39) |
V73A |
possibly damaging |
Het |
| Mtbp |
C |
T |
15: 55,449,748 (GRCm39) |
L24F |
probably damaging |
Het |
| Ncr1 |
T |
A |
7: 4,341,120 (GRCm39) |
I37N |
probably benign |
Het |
| Nkx3-1 |
A |
G |
14: 69,429,507 (GRCm39) |
N175S |
probably damaging |
Het |
| Nlrp4f |
A |
G |
13: 65,342,145 (GRCm39) |
I500T |
possibly damaging |
Het |
| Or10a3 |
T |
A |
7: 108,479,973 (GRCm39) |
Q280L |
possibly damaging |
Het |
| Or1e1f |
C |
T |
11: 73,856,223 (GRCm39) |
S263L |
possibly damaging |
Het |
| Or6c33 |
A |
G |
10: 129,853,445 (GRCm39) |
T72A |
probably damaging |
Het |
| Pcdha2 |
A |
G |
18: 37,074,325 (GRCm39) |
D652G |
probably damaging |
Het |
| Pde6a |
T |
A |
18: 61,354,018 (GRCm39) |
N114K |
probably damaging |
Het |
| Pdp2 |
A |
G |
8: 105,320,913 (GRCm39) |
E254G |
probably benign |
Het |
| Pip5kl1 |
T |
C |
2: 32,470,018 (GRCm39) |
V241A |
probably benign |
Het |
| Prkdc |
T |
A |
16: 15,469,400 (GRCm39) |
D168E |
probably damaging |
Het |
| Psg27 |
A |
T |
7: 18,296,015 (GRCm39) |
H143Q |
probably benign |
Het |
| Serpina16 |
T |
A |
12: 103,638,796 (GRCm39) |
I264F |
probably benign |
Het |
| Slc25a41 |
G |
A |
17: 57,348,582 (GRCm39) |
H4Y |
probably benign |
Het |
| Slco1a8 |
T |
G |
6: 141,949,115 (GRCm39) |
H87P |
probably damaging |
Het |
| Smc3 |
T |
G |
19: 53,617,142 (GRCm39) |
H518Q |
probably benign |
Het |
| Snrpb |
G |
T |
2: 130,015,042 (GRCm39) |
T158K |
probably damaging |
Het |
| Sobp |
A |
G |
10: 42,898,392 (GRCm39) |
F398L |
probably damaging |
Het |
| Spidr |
T |
A |
16: 15,958,591 (GRCm39) |
Q57L |
probably benign |
Het |
| Srd5a3 |
T |
G |
5: 76,297,648 (GRCm39) |
V26G |
possibly damaging |
Het |
| Stx17 |
A |
G |
4: 48,166,972 (GRCm39) |
T131A |
probably benign |
Het |
| Susd1 |
A |
G |
4: 59,332,985 (GRCm39) |
L553P |
possibly damaging |
Het |
| Tbc1d30 |
C |
A |
10: 121,187,009 (GRCm39) |
G59C |
probably benign |
Het |
| Tekt1 |
T |
C |
11: 72,242,850 (GRCm39) |
D219G |
possibly damaging |
Het |
| Trav9d-1 |
A |
T |
14: 53,030,163 (GRCm39) |
D89V |
possibly damaging |
Het |
| Trim34b |
T |
C |
7: 103,980,545 (GRCm39) |
I211T |
probably benign |
Het |
| Vmn1r25 |
A |
T |
6: 57,955,531 (GRCm39) |
L253M |
possibly damaging |
Het |
| Vmn1r56 |
C |
T |
7: 5,198,904 (GRCm39) |
V238M |
probably damaging |
Het |
| Wipf3 |
A |
G |
6: 54,466,070 (GRCm39) |
I443V |
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 |
|
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'- CTGAGGACTATGCCACCAAC -3'
(R):5'- GTCATTGTGCTCTCAAATGGTG -3'
Sequencing Primer
(F):5'- CCATCACACGGGAAGCTGAG -3'
(R):5'- TTCCTTTGTCAGGAGCTG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation