Incidental Mutation 'R1439:Emsy'
| ID |
160844 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Emsy
|
| Ensembl Gene |
ENSMUSG00000035401 |
| Gene Name |
EMSY, BRCA2-interacting transcriptional repressor |
| Synonyms |
2210018M11Rik |
| MMRRC Submission |
039494-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.520)
|
| Stock # |
R1439 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
98236344-98305990 bp(-) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
T to C
at 98250048 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146262
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038359]
[ENSMUST00000205276]
[ENSMUST00000205886]
[ENSMUST00000205911]
[ENSMUST00000206619]
[ENSMUST00000206626]
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000205485
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205886
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205911
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206619
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206626
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206813
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.8%
- 10x: 94.4%
- 20x: 86.3%
|
| Validation Efficiency |
100% (72/72) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agap1 |
A |
G |
1: 89,770,908 (GRCm39) |
N499S |
probably damaging |
Het |
| AI661453 |
C |
A |
17: 47,777,587 (GRCm39) |
|
probably benign |
Het |
| Akap1 |
C |
A |
11: 88,735,577 (GRCm39) |
G362* |
probably null |
Het |
| Alkbh1 |
A |
G |
12: 87,475,915 (GRCm39) |
V289A |
probably damaging |
Het |
| Bnc2 |
C |
T |
4: 84,194,305 (GRCm39) |
E1035K |
probably benign |
Het |
| C1s2 |
T |
A |
6: 124,607,126 (GRCm39) |
|
probably benign |
Het |
| Cabin1 |
A |
G |
10: 75,492,640 (GRCm39) |
I1885T |
probably damaging |
Het |
| Col22a1 |
A |
G |
15: 71,824,226 (GRCm39) |
|
probably benign |
Het |
| Cpne4 |
A |
T |
9: 104,866,831 (GRCm39) |
T248S |
probably damaging |
Het |
| Cracd |
T |
C |
5: 76,988,757 (GRCm39) |
V36A |
probably damaging |
Het |
| Cubn |
T |
C |
2: 13,292,379 (GRCm39) |
N3268S |
probably damaging |
Het |
| Ddx10 |
T |
A |
9: 53,151,787 (GRCm39) |
K79N |
probably damaging |
Het |
| Dennd1a |
A |
C |
2: 37,933,412 (GRCm39) |
L131R |
probably damaging |
Het |
| Dnah9 |
T |
C |
11: 65,764,958 (GRCm39) |
Y3862C |
probably benign |
Het |
| Eif3e |
A |
G |
15: 43,141,824 (GRCm39) |
|
probably benign |
Het |
| Ep400 |
A |
T |
5: 110,833,344 (GRCm39) |
D1959E |
unknown |
Het |
| Fpr-rs7 |
A |
G |
17: 20,333,869 (GRCm39) |
I207T |
probably benign |
Het |
| Fubp3 |
C |
A |
2: 31,488,563 (GRCm39) |
L140I |
probably damaging |
Het |
| Gas2l2 |
T |
C |
11: 83,318,298 (GRCm39) |
D137G |
probably damaging |
Het |
| Git1 |
G |
T |
11: 77,397,244 (GRCm39) |
R699L |
possibly damaging |
Het |
| Gnao1 |
T |
A |
8: 94,690,065 (GRCm39) |
F27L |
probably benign |
Het |
| Hlx |
G |
T |
1: 184,464,184 (GRCm39) |
A52D |
probably damaging |
Het |
| Itga6 |
T |
G |
2: 71,664,378 (GRCm39) |
Y505D |
probably damaging |
Het |
| Itgad |
A |
T |
7: 127,782,178 (GRCm39) |
T205S |
probably benign |
Het |
| Jakmip3 |
A |
T |
7: 138,631,375 (GRCm39) |
Y574F |
probably benign |
Het |
| Laptm5 |
G |
T |
4: 130,653,520 (GRCm39) |
|
probably benign |
Het |
| Mlana |
A |
T |
19: 29,684,252 (GRCm39) |
R71S |
probably benign |
Het |
| Mroh2a |
G |
C |
1: 88,185,524 (GRCm39) |
E1510D |
probably damaging |
Het |
| Mus81 |
G |
C |
19: 5,535,145 (GRCm39) |
R295G |
probably benign |
Het |
| Ncapd3 |
T |
A |
9: 26,998,862 (GRCm39) |
|
probably null |
Het |
| Nectin1 |
A |
G |
9: 43,703,396 (GRCm39) |
E218G |
possibly damaging |
Het |
| Nectin3 |
A |
T |
16: 46,268,757 (GRCm39) |
Y548* |
probably null |
Het |
| Nif3l1 |
T |
C |
1: 58,487,102 (GRCm39) |
F96S |
probably damaging |
Het |
| Ntrk1 |
A |
G |
3: 87,696,918 (GRCm39) |
|
probably null |
Het |
| Obsl1 |
C |
A |
1: 75,463,428 (GRCm39) |
E1755* |
probably null |
Het |
| Or4p23 |
T |
C |
2: 88,577,178 (GRCm39) |
E18G |
possibly damaging |
Het |
| Osbpl9 |
T |
C |
4: 108,958,353 (GRCm39) |
D74G |
probably damaging |
Het |
| Osgin1 |
T |
A |
8: 120,169,852 (GRCm39) |
|
probably null |
Het |
| Otogl |
A |
G |
10: 107,615,113 (GRCm39) |
Y1931H |
probably benign |
Het |
| Pmepa1 |
A |
G |
2: 173,069,874 (GRCm39) |
I227T |
probably benign |
Het |
| Pprc1 |
T |
A |
19: 46,052,175 (GRCm39) |
N564K |
possibly damaging |
Het |
| Prkaa1 |
T |
C |
15: 5,194,225 (GRCm39) |
F92S |
probably damaging |
Het |
| Ptprd |
A |
G |
4: 75,984,437 (GRCm39) |
F811L |
probably damaging |
Het |
| Rad54b |
A |
G |
4: 11,606,152 (GRCm39) |
K520R |
possibly damaging |
Het |
| Rbfox1 |
A |
G |
16: 7,148,297 (GRCm39) |
T269A |
possibly damaging |
Het |
| Rfwd3 |
T |
C |
8: 112,004,920 (GRCm39) |
Y554C |
probably damaging |
Het |
| Rfx2 |
A |
T |
17: 57,094,720 (GRCm39) |
V208E |
probably damaging |
Het |
| Rgs22 |
G |
T |
15: 36,025,939 (GRCm39) |
|
probably benign |
Het |
| Rrbp1 |
A |
G |
2: 143,797,032 (GRCm39) |
|
probably null |
Het |
| Ryr2 |
C |
T |
13: 11,729,389 (GRCm39) |
|
probably benign |
Het |
| Sbno1 |
A |
G |
5: 124,522,523 (GRCm39) |
|
probably benign |
Het |
| Secisbp2 |
T |
C |
13: 51,833,759 (GRCm39) |
|
probably benign |
Het |
| Sgsm2 |
C |
A |
11: 74,759,964 (GRCm39) |
R58L |
probably benign |
Het |
| Slc25a36 |
A |
C |
9: 96,975,126 (GRCm39) |
|
probably benign |
Het |
| Spink4 |
A |
G |
4: 40,929,121 (GRCm39) |
T49A |
possibly damaging |
Het |
| Steap3 |
A |
T |
1: 120,155,550 (GRCm39) |
F470I |
probably damaging |
Het |
| Stk10 |
A |
G |
11: 32,567,919 (GRCm39) |
Q907R |
probably damaging |
Het |
| Tdrd5 |
A |
G |
1: 156,105,057 (GRCm39) |
V446A |
probably damaging |
Het |
| Tmem117 |
G |
A |
15: 94,992,478 (GRCm39) |
M379I |
probably benign |
Het |
| Trappc12 |
A |
G |
12: 28,797,160 (GRCm39) |
L124P |
possibly damaging |
Het |
| Trim9 |
G |
A |
12: 70,297,867 (GRCm39) |
H613Y |
probably damaging |
Het |
| Trio |
A |
G |
15: 27,898,000 (GRCm39) |
W371R |
probably damaging |
Het |
| Ulk4 |
G |
C |
9: 121,095,324 (GRCm39) |
H110D |
possibly damaging |
Het |
| Upb1 |
T |
C |
10: 75,275,776 (GRCm39) |
V387A |
probably benign |
Het |
| Utrn |
A |
T |
10: 12,619,793 (GRCm39) |
I284N |
possibly damaging |
Het |
| Vmn2r111 |
C |
A |
17: 22,790,097 (GRCm39) |
W303L |
probably benign |
Het |
| Vmn2r15 |
G |
T |
5: 109,441,953 (GRCm39) |
P160Q |
probably damaging |
Het |
| Wdtc1 |
A |
G |
4: 133,029,118 (GRCm39) |
S323P |
probably benign |
Het |
| Zfp846 |
T |
A |
9: 20,505,393 (GRCm39) |
C418S |
possibly damaging |
Het |
| Zfyve26 |
G |
T |
12: 79,298,937 (GRCm39) |
P441Q |
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 |
|
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'- ACCCCATGAAGTCCGCAAAGGTAG -3'
(R):5'- CTGATGTGAACTGAGTGTGCCAGG -3'
Sequencing Primer
(F):5'- TGTTTTAAGAGGACACCTACCCG -3'
(R):5'- GTGCCAGGGATTACTTTGAATAC -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation