Incidental Mutation 'R1452:Emsy'
ID |
161075 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Emsy
|
Ensembl Gene |
ENSMUSG00000035401 |
Gene Name |
EMSY, BRCA2-interacting transcriptional repressor |
Synonyms |
2210018M11Rik |
MMRRC Submission |
039507-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.520)
|
Stock # |
R1452 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
98236344-98305990 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 98249881 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Lysine
at position 802
(T802K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000145858
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038359]
[ENSMUST00000205276]
[ENSMUST00000205886]
[ENSMUST00000205911]
[ENSMUST00000206619]
[ENSMUST00000206626]
|
AlphaFold |
Q8BMB0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000038359
AA Change: T802K
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000038216 Gene: ENSMUSG00000035401 AA Change: T802K
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: T802K
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205485
|
Predicted Effect |
unknown
Transcript: ENSMUST00000205886
AA Change: T122K
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000205911
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206619
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206813
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206626
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.8%
- 10x: 94.8%
- 20x: 87.5%
|
Validation Efficiency |
99% (70/71) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2m |
A |
G |
6: 121,655,015 (GRCm39) |
I1446M |
probably benign |
Het |
Acaca |
T |
A |
11: 84,185,885 (GRCm39) |
|
probably benign |
Het |
Adgre4 |
A |
T |
17: 56,091,996 (GRCm39) |
E85D |
probably benign |
Het |
Akt3 |
A |
T |
1: 176,958,633 (GRCm39) |
Y26N |
possibly damaging |
Het |
Arl15 |
T |
C |
13: 114,104,319 (GRCm39) |
V132A |
probably benign |
Het |
Atp6v1h |
A |
G |
1: 5,168,360 (GRCm39) |
|
probably benign |
Het |
Atrip |
T |
A |
9: 108,901,727 (GRCm39) |
D110V |
probably damaging |
Het |
Bahcc1 |
T |
G |
11: 120,173,065 (GRCm39) |
|
probably benign |
Het |
Cd53 |
C |
T |
3: 106,676,275 (GRCm39) |
G31S |
probably damaging |
Het |
Cdk14 |
T |
C |
5: 4,938,927 (GRCm39) |
S404G |
possibly damaging |
Het |
Cers3 |
A |
T |
7: 66,433,152 (GRCm39) |
K156N |
probably damaging |
Het |
Colgalt2 |
C |
A |
1: 152,379,904 (GRCm39) |
L448M |
probably damaging |
Het |
Cox15 |
G |
T |
19: 43,735,344 (GRCm39) |
T141K |
probably damaging |
Het |
Csnk2a2 |
C |
T |
8: 96,184,003 (GRCm39) |
|
probably benign |
Het |
Cyp2b10 |
A |
T |
7: 25,624,813 (GRCm39) |
|
probably benign |
Het |
Cyp2c55 |
A |
G |
19: 38,999,534 (GRCm39) |
Y80C |
probably damaging |
Het |
Depdc1a |
A |
G |
3: 159,232,328 (GRCm39) |
Y693C |
possibly damaging |
Het |
Des |
T |
C |
1: 75,340,121 (GRCm39) |
S343P |
probably damaging |
Het |
Dync1i2 |
T |
C |
2: 71,080,207 (GRCm39) |
|
probably benign |
Het |
Eif3m |
T |
A |
2: 104,837,122 (GRCm39) |
Q199L |
probably damaging |
Het |
Endov |
A |
G |
11: 119,382,651 (GRCm39) |
T33A |
probably damaging |
Het |
Epb41l5 |
G |
A |
1: 119,476,896 (GRCm39) |
T728I |
probably damaging |
Het |
Fbxo39 |
A |
G |
11: 72,209,228 (GRCm39) |
I363V |
probably benign |
Het |
Gm8674 |
C |
T |
13: 50,054,553 (GRCm39) |
|
noncoding transcript |
Het |
Il6st |
T |
A |
13: 112,617,998 (GRCm39) |
N137K |
possibly damaging |
Het |
Inf2 |
A |
G |
12: 112,567,778 (GRCm39) |
N136S |
probably damaging |
Het |
Iqub |
A |
T |
6: 24,491,558 (GRCm39) |
I376N |
probably benign |
Het |
Kansl3 |
A |
G |
1: 36,393,874 (GRCm39) |
|
probably benign |
Het |
Kbtbd2 |
A |
T |
6: 56,758,909 (GRCm39) |
H71Q |
probably damaging |
Het |
Lgals8 |
G |
T |
13: 12,468,208 (GRCm39) |
Y140* |
probably null |
Het |
Mab21l4 |
T |
C |
1: 93,080,661 (GRCm39) |
Y415C |
probably damaging |
Het |
Macf1 |
T |
A |
4: 123,387,791 (GRCm39) |
I924L |
probably benign |
Het |
Mcoln2 |
A |
T |
3: 145,887,569 (GRCm39) |
T329S |
possibly damaging |
Het |
Mex3d |
A |
T |
10: 80,217,354 (GRCm39) |
L621Q |
probably damaging |
Het |
Mmut |
A |
G |
17: 41,248,359 (GRCm39) |
|
probably benign |
Het |
Ncor1 |
T |
C |
11: 62,225,457 (GRCm39) |
H1038R |
probably damaging |
Het |
Neb |
A |
G |
2: 52,161,309 (GRCm39) |
|
probably null |
Het |
Ngrn |
A |
G |
7: 79,914,520 (GRCm39) |
T224A |
probably benign |
Het |
Nin |
G |
A |
12: 70,064,424 (GRCm39) |
R2019* |
probably null |
Het |
Nphp4 |
C |
G |
4: 152,631,475 (GRCm39) |
Q792E |
probably damaging |
Het |
Or13e8 |
C |
T |
4: 43,696,823 (GRCm39) |
V117M |
probably benign |
Het |
Or2z9 |
C |
T |
8: 72,854,020 (GRCm39) |
Q139* |
probably null |
Het |
Or4c3d |
C |
T |
2: 89,882,015 (GRCm39) |
V218I |
possibly damaging |
Het |
Or5d38 |
C |
T |
2: 87,954,655 (GRCm39) |
V225I |
probably benign |
Het |
Or8k3 |
T |
A |
2: 86,058,799 (GRCm39) |
N172I |
probably damaging |
Het |
Pde4dip |
C |
A |
3: 97,631,418 (GRCm39) |
V1164L |
probably damaging |
Het |
Plppr1 |
A |
G |
4: 49,301,067 (GRCm39) |
|
probably benign |
Het |
Pole2 |
G |
A |
12: 69,254,703 (GRCm39) |
L381F |
probably benign |
Het |
Ppp2r5e |
A |
G |
12: 75,516,310 (GRCm39) |
|
probably benign |
Het |
Prim2 |
T |
A |
1: 33,669,485 (GRCm39) |
E163D |
probably benign |
Het |
Prrc2b |
A |
T |
2: 32,084,997 (GRCm39) |
D296V |
probably damaging |
Het |
Pter |
A |
G |
2: 12,983,432 (GRCm39) |
|
probably benign |
Het |
Resf1 |
A |
T |
6: 149,228,130 (GRCm39) |
K392I |
probably damaging |
Het |
Robo2 |
C |
A |
16: 73,758,798 (GRCm39) |
V662L |
probably damaging |
Het |
Sirpd |
G |
T |
3: 15,397,212 (GRCm39) |
T24K |
unknown |
Het |
Slco1b2 |
A |
T |
6: 141,617,926 (GRCm39) |
I424F |
probably benign |
Het |
Snx29 |
A |
T |
16: 11,449,335 (GRCm39) |
H260L |
probably damaging |
Het |
Stil |
A |
G |
4: 114,896,392 (GRCm39) |
N959S |
probably benign |
Het |
Taar8c |
A |
T |
10: 23,977,508 (GRCm39) |
D101E |
probably benign |
Het |
Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
Trpc6 |
G |
A |
9: 8,653,148 (GRCm39) |
M573I |
probably damaging |
Het |
Tsr1 |
A |
T |
11: 74,790,425 (GRCm39) |
D171V |
probably benign |
Het |
Ube4b |
T |
C |
4: 149,455,626 (GRCm39) |
T348A |
probably damaging |
Het |
Vmn1r85 |
A |
T |
7: 12,818,808 (GRCm39) |
I112N |
probably damaging |
Het |
Vps36 |
A |
G |
8: 22,708,226 (GRCm39) |
|
probably null |
Het |
Wdfy3 |
G |
A |
5: 102,085,604 (GRCm39) |
A630V |
possibly damaging |
Het |
Wdsub1 |
A |
T |
2: 59,707,144 (GRCm39) |
D14E |
probably null |
Het |
Ylpm1 |
T |
C |
12: 85,077,157 (GRCm39) |
I1294T |
possibly damaging |
Het |
Zdhhc17 |
A |
G |
10: 110,790,936 (GRCm39) |
F378L |
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 |
|
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'- GGGTTATTCACATCACTACCCCTGAAC -3'
(R):5'- ACTAATGGTAGGACACCCCAGAGGTC -3'
Sequencing Primer
(F):5'- gagaaagagagaaagagagagagag -3'
(R):5'- GGTTCATTATTCCCATAGACAGC -3'
|
Posted On |
2014-03-14 |