Incidental Mutation 'R7646:Emsy'
ID |
590537 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Emsy
|
Ensembl Gene |
ENSMUSG00000035401 |
Gene Name |
EMSY, BRCA2-interacting transcriptional repressor |
Synonyms |
2210018M11Rik |
MMRRC Submission |
045724-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.520)
|
Stock # |
R7646 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
98236344-98305990 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 98268560 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Serine
at position 508
(P508S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000145858
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038359]
[ENSMUST00000205276]
[ENSMUST00000205911]
[ENSMUST00000206619]
[ENSMUST00000206626]
|
AlphaFold |
Q8BMB0 |
Predicted Effect |
unknown
Transcript: ENSMUST00000038359
AA Change: P508S
|
SMART Domains |
Protein: ENSMUSP00000038216 Gene: ENSMUSG00000035401 AA Change: P508S
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: P508S
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000205911
AA Change: P469S
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000206619
AA Change: P494S
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206626
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
Validation Efficiency |
100% (64/64) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca16 |
A |
G |
7: 120,113,937 (GRCm39) |
H936R |
probably benign |
Het |
Afg3l1 |
C |
A |
8: 124,219,766 (GRCm39) |
D431E |
possibly damaging |
Het |
Agrn |
T |
C |
4: 156,279,811 (GRCm39) |
N120S |
probably damaging |
Het |
Apob |
A |
G |
12: 8,059,189 (GRCm39) |
D2557G |
probably damaging |
Het |
Atl2 |
A |
G |
17: 80,162,036 (GRCm39) |
Y359H |
probably damaging |
Het |
Banp |
T |
C |
8: 122,750,775 (GRCm39) |
S489P |
possibly damaging |
Het |
Cage1 |
A |
G |
13: 38,206,823 (GRCm39) |
C341R |
probably damaging |
Het |
Cdh23 |
T |
C |
10: 60,140,931 (GRCm39) |
N3139S |
possibly damaging |
Het |
Chd2 |
G |
T |
7: 73,085,521 (GRCm39) |
S1704R |
possibly damaging |
Het |
Col4a2 |
T |
A |
8: 11,495,086 (GRCm39) |
F1515I |
probably benign |
Het |
Crocc |
T |
A |
4: 140,748,966 (GRCm39) |
Q1613L |
probably null |
Het |
Cttnbp2 |
A |
T |
6: 18,375,939 (GRCm39) |
S1533R |
probably damaging |
Het |
Dlgap5 |
C |
T |
14: 47,636,976 (GRCm39) |
|
probably null |
Het |
Dnah8 |
G |
A |
17: 30,868,651 (GRCm39) |
D362N |
probably benign |
Het |
Elf5 |
G |
T |
2: 103,269,588 (GRCm39) |
K56N |
probably benign |
Het |
Fam135a |
T |
C |
1: 24,067,704 (GRCm39) |
H1055R |
probably benign |
Het |
Fh1 |
C |
T |
1: 175,442,479 (GRCm39) |
V124I |
probably benign |
Het |
Gbf1 |
T |
A |
19: 46,272,111 (GRCm39) |
D1610E |
probably damaging |
Het |
Glp1r |
A |
G |
17: 31,155,257 (GRCm39) |
K415E |
probably benign |
Het |
Glyr1 |
T |
C |
16: 4,836,361 (GRCm39) |
D496G |
probably damaging |
Het |
Herc2 |
A |
G |
7: 55,784,361 (GRCm39) |
I1342V |
probably benign |
Het |
Hoxa7 |
A |
G |
6: 52,192,699 (GRCm39) |
*230Q |
probably null |
Het |
Ice1 |
A |
G |
13: 70,737,916 (GRCm39) |
V2177A |
possibly damaging |
Het |
Ildr1 |
T |
A |
16: 36,542,281 (GRCm39) |
M271K |
possibly damaging |
Het |
Klk1b22 |
T |
G |
7: 43,765,542 (GRCm39) |
|
probably null |
Het |
Lig3 |
T |
A |
11: 82,674,304 (GRCm39) |
N43K |
probably benign |
Het |
Mcmdc2 |
A |
G |
1: 9,982,360 (GRCm39) |
T83A |
possibly damaging |
Het |
Megf10 |
GGCAGCAACAGCACCAGCAGCAACAGCACCAGCAGCA |
GGCAGCAACAGCACCAGCAGCA |
18: 57,427,071 (GRCm39) |
|
probably benign |
Het |
Mki67 |
A |
T |
7: 135,298,498 (GRCm39) |
S2179T |
possibly damaging |
Het |
Mrpl38 |
G |
A |
11: 116,023,593 (GRCm39) |
S282L |
probably damaging |
Het |
Ndst2 |
A |
G |
14: 20,774,527 (GRCm39) |
|
probably null |
Het |
Nlrp4a |
C |
G |
7: 26,148,987 (GRCm39) |
A198G |
probably damaging |
Het |
Nup98 |
A |
C |
7: 101,803,242 (GRCm39) |
S653A |
probably benign |
Het |
Or12e8 |
A |
G |
2: 87,188,102 (GRCm39) |
I105V |
probably benign |
Het |
Or13a27 |
A |
G |
7: 139,925,864 (GRCm39) |
F13L |
probably damaging |
Het |
Or14j10 |
G |
T |
17: 37,935,295 (GRCm39) |
T77K |
probably damaging |
Het |
Or51ai2 |
G |
A |
7: 103,587,504 (GRCm39) |
A306T |
probably damaging |
Het |
Or8k37 |
C |
A |
2: 86,469,513 (GRCm39) |
D180Y |
probably damaging |
Het |
Pclo |
A |
T |
5: 14,570,909 (GRCm39) |
D98V |
probably damaging |
Het |
Peg3 |
A |
T |
7: 6,712,221 (GRCm39) |
D1000E |
probably benign |
Het |
Polr3h |
A |
G |
15: 81,801,571 (GRCm39) |
Y131H |
probably damaging |
Het |
Rapgef6 |
A |
G |
11: 54,516,780 (GRCm39) |
I346V |
probably benign |
Het |
Rufy1 |
T |
A |
11: 50,301,436 (GRCm39) |
K332M |
probably damaging |
Het |
Scn1a |
T |
C |
2: 66,118,102 (GRCm39) |
M404V |
possibly damaging |
Het |
Septin8 |
T |
A |
11: 53,428,744 (GRCm39) |
|
probably null |
Het |
Sesn3 |
A |
G |
9: 14,219,911 (GRCm39) |
D100G |
probably damaging |
Het |
Setx |
A |
G |
2: 29,067,561 (GRCm39) |
I2388V |
possibly damaging |
Het |
Skint5 |
T |
A |
4: 113,620,739 (GRCm39) |
|
probably null |
Het |
Slc25a23 |
C |
T |
17: 57,366,759 (GRCm39) |
|
probably benign |
Het |
Slc4a7 |
G |
A |
14: 14,773,348 (GRCm38) |
E773K |
probably benign |
Het |
Slco3a1 |
G |
A |
7: 74,154,344 (GRCm39) |
A76V |
probably damaging |
Het |
Stradb |
A |
T |
1: 59,033,567 (GRCm39) |
D410V |
probably benign |
Het |
Syne1 |
T |
C |
10: 5,122,949 (GRCm39) |
D329G |
probably damaging |
Het |
Syt4 |
A |
C |
18: 31,574,658 (GRCm39) |
S320A |
possibly damaging |
Het |
Tnfsf4 |
A |
G |
1: 161,244,733 (GRCm39) |
T141A |
possibly damaging |
Het |
Trim34b |
G |
A |
7: 103,984,559 (GRCm39) |
A279T |
probably damaging |
Het |
Trpm6 |
A |
T |
19: 18,845,325 (GRCm39) |
D1675V |
probably benign |
Het |
Vmn2r24 |
T |
A |
6: 123,793,169 (GRCm39) |
M832K |
probably benign |
Het |
Wdr90 |
A |
G |
17: 26,079,104 (GRCm39) |
V246A |
probably benign |
Het |
Xkr6 |
G |
T |
14: 63,844,423 (GRCm39) |
D149Y |
probably damaging |
Het |
Zfp108 |
A |
G |
7: 23,960,840 (GRCm39) |
Y477C |
probably damaging |
Het |
Zfp37 |
T |
G |
4: 62,109,532 (GRCm39) |
I552L |
probably damaging |
Het |
Zfp426 |
A |
T |
9: 20,381,320 (GRCm39) |
S556T |
probably damaging |
Het |
Zfp954 |
G |
A |
7: 7,118,720 (GRCm39) |
L275F |
possibly damaging |
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 |
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'- TGAAACACAGTGCCACATTTTG -3'
(R):5'- ACCTTGCAGTTCCATTTTCAAG -3'
Sequencing Primer
(F):5'- GAAACATGGCTTGTCTCCT -3'
(R):5'- GCAGTTCCATTTTCAAGTTAAAGTG -3'
|
Posted On |
2019-10-24 |