Incidental Mutation 'R8221:Emsy'
| ID |
636688 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Emsy
|
| Ensembl Gene |
ENSMUSG00000035401 |
| Gene Name |
EMSY, BRCA2-interacting transcriptional repressor |
| Synonyms |
2210018M11Rik |
| MMRRC Submission |
067639-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.520)
|
| Stock # |
R8221 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
98236344-98305990 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 98297111 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 24
(E24G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145858
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038359]
[ENSMUST00000205276]
[ENSMUST00000205911]
[ENSMUST00000206611]
[ENSMUST00000206619]
|
| AlphaFold |
Q8BMB0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000038359
AA Change: E24G
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000038216
Gene: ENSMUSG00000035401
AA Change: E24G
| 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: E24G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000205911
AA Change: E24G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206256
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000206611
AA Change: E24G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000206619
AA Change: E24G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (74/74) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acly |
A |
G |
11: 100,410,576 (GRCm39) |
F134S |
probably damaging |
Het |
| Acsl5 |
T |
C |
19: 55,257,262 (GRCm39) |
|
probably null |
Het |
| Adam29 |
G |
T |
8: 56,325,463 (GRCm39) |
N330K |
probably benign |
Het |
| Adgrv1 |
A |
G |
13: 81,677,033 (GRCm39) |
S1933P |
probably benign |
Het |
| Afap1l2 |
T |
C |
19: 56,902,824 (GRCm39) |
H785R |
probably damaging |
Het |
| Ahnak |
T |
A |
19: 8,987,800 (GRCm39) |
L3028* |
probably null |
Het |
| Ajuba |
T |
C |
14: 54,807,847 (GRCm39) |
T462A |
possibly damaging |
Het |
| Ankrd36 |
A |
G |
11: 5,534,016 (GRCm39) |
N289S |
possibly damaging |
Het |
| Ankrd46 |
A |
T |
15: 36,486,001 (GRCm39) |
L84Q |
probably damaging |
Het |
| Ankrd54 |
T |
G |
15: 78,940,270 (GRCm39) |
D163A |
probably damaging |
Het |
| Arhgef28 |
A |
G |
13: 98,282,064 (GRCm39) |
L10P |
probably benign |
Het |
| Atm |
A |
T |
9: 53,367,288 (GRCm39) |
|
probably null |
Het |
| Azin1 |
G |
C |
15: 38,492,572 (GRCm39) |
F312L |
probably damaging |
Het |
| C2cd4c |
A |
G |
10: 79,448,482 (GRCm39) |
S222P |
probably damaging |
Het |
| Cdyl |
A |
G |
13: 36,000,147 (GRCm39) |
T143A |
probably benign |
Het |
| Clhc1 |
G |
A |
11: 29,503,751 (GRCm39) |
V56I |
possibly damaging |
Het |
| Cntn4 |
T |
C |
6: 106,486,471 (GRCm39) |
S300P |
probably benign |
Het |
| Col12a1 |
A |
G |
9: 79,551,224 (GRCm39) |
Y2131H |
probably damaging |
Het |
| Cyp3a41b |
A |
G |
5: 145,506,190 (GRCm39) |
S287P |
probably benign |
Het |
| Dctn4 |
A |
G |
18: 60,689,401 (GRCm39) |
D424G |
probably benign |
Het |
| Dnajb8 |
C |
T |
6: 88,199,940 (GRCm39) |
R159C |
possibly damaging |
Het |
| Dop1b |
A |
G |
16: 93,546,847 (GRCm39) |
T284A |
probably benign |
Het |
| E330034G19Rik |
A |
C |
14: 24,346,135 (GRCm39) |
|
probably null |
Het |
| Ehhadh |
G |
A |
16: 21,581,373 (GRCm39) |
P540S |
possibly damaging |
Het |
| F930015N05Rik |
A |
C |
11: 64,326,418 (GRCm39) |
L74W |
unknown |
Het |
| Fat1 |
A |
G |
8: 45,406,390 (GRCm39) |
D1047G |
|
Het |
| Galnt7 |
A |
G |
8: 58,005,600 (GRCm39) |
V211A |
possibly damaging |
Het |
| Gdap2 |
T |
C |
3: 100,109,611 (GRCm39) |
C543R |
unknown |
Het |
| Ghr |
A |
C |
15: 3,362,901 (GRCm39) |
D190E |
probably benign |
Het |
| Glrx |
A |
G |
13: 75,995,346 (GRCm39) |
M89V |
probably benign |
Het |
| Gm10323 |
A |
C |
13: 67,000,859 (GRCm39) |
Y91* |
noncoding transcript |
Het |
| Gnb4 |
A |
T |
3: 32,644,184 (GRCm39) |
D153E |
possibly damaging |
Het |
| Gnptab |
G |
T |
10: 88,276,254 (GRCm39) |
|
probably null |
Het |
| Grip2 |
T |
C |
6: 91,762,665 (GRCm39) |
D193G |
possibly damaging |
Het |
| Igsf3 |
T |
C |
3: 101,347,038 (GRCm39) |
W658R |
probably damaging |
Het |
| Ip6k1 |
T |
A |
9: 107,923,115 (GRCm39) |
F416I |
probably benign |
Het |
| Klhl1 |
T |
G |
14: 96,517,546 (GRCm39) |
T377P |
possibly damaging |
Het |
| Lrrc38 |
G |
A |
4: 143,077,303 (GRCm39) |
G189R |
probably damaging |
Het |
| Lrrfip1 |
T |
C |
1: 91,042,878 (GRCm39) |
S428P |
probably benign |
Het |
| Megf10 |
A |
G |
18: 57,416,893 (GRCm39) |
D754G |
probably benign |
Het |
| Mrgprx2 |
T |
A |
7: 48,132,527 (GRCm39) |
Y97F |
probably benign |
Het |
| Msantd2 |
T |
G |
9: 37,400,684 (GRCm39) |
V22G |
probably damaging |
Het |
| Myl6b |
T |
C |
10: 128,333,209 (GRCm39) |
K11R |
unknown |
Het |
| Nab2 |
C |
A |
10: 127,498,645 (GRCm39) |
V475L |
probably benign |
Het |
| Npas1 |
T |
C |
7: 16,189,890 (GRCm39) |
E552G |
probably damaging |
Het |
| Pknox2 |
T |
C |
9: 36,821,040 (GRCm39) |
N274S |
possibly damaging |
Het |
| Pmepa1 |
A |
T |
2: 173,069,700 (GRCm39) |
L247Q |
probably damaging |
Het |
| Poll |
T |
C |
19: 45,542,047 (GRCm39) |
K420E |
probably damaging |
Het |
| Polr2a |
A |
G |
11: 69,628,344 (GRCm39) |
V1283A |
probably benign |
Het |
| Ppil4 |
A |
T |
10: 7,671,444 (GRCm39) |
Y36F |
probably benign |
Het |
| Pramel20 |
T |
G |
4: 143,298,530 (GRCm39) |
Y158D |
probably benign |
Het |
| Psd2 |
C |
T |
18: 36,113,478 (GRCm39) |
R317W |
probably damaging |
Het |
| Pspc1 |
T |
A |
14: 57,015,616 (GRCm39) |
M1L |
probably benign |
Het |
| Qrsl1 |
A |
T |
10: 43,758,080 (GRCm39) |
F338I |
possibly damaging |
Het |
| Rcor3 |
A |
G |
1: 191,814,749 (GRCm39) |
Y77H |
unknown |
Het |
| Sbno2 |
G |
A |
10: 79,905,845 (GRCm39) |
P157L |
probably benign |
Het |
| Scn10a |
C |
T |
9: 119,446,829 (GRCm39) |
V1400I |
probably damaging |
Het |
| Setd3 |
C |
G |
12: 108,073,612 (GRCm39) |
G555A |
possibly damaging |
Het |
| Slc12a4 |
A |
T |
8: 106,678,601 (GRCm39) |
M245K |
probably benign |
Het |
| Slc1a5 |
T |
A |
7: 16,515,902 (GRCm39) |
L26Q |
probably benign |
Het |
| Slc38a3 |
T |
G |
9: 107,534,908 (GRCm39) |
M156L |
probably damaging |
Het |
| Slc45a2 |
A |
T |
15: 11,001,233 (GRCm39) |
I111F |
probably benign |
Het |
| Slc4a3 |
T |
A |
1: 75,528,810 (GRCm39) |
M491K |
probably benign |
Het |
| Son |
A |
G |
16: 91,453,734 (GRCm39) |
D827G |
probably damaging |
Het |
| Sppl2c |
A |
T |
11: 104,077,710 (GRCm39) |
H170L |
probably damaging |
Het |
| St6gal2 |
T |
A |
17: 55,797,935 (GRCm39) |
|
probably null |
Het |
| Taf4b |
T |
A |
18: 15,031,106 (GRCm39) |
L830H |
probably damaging |
Het |
| Tex22 |
A |
G |
12: 113,038,696 (GRCm39) |
|
probably null |
Het |
| Tiam2 |
C |
T |
17: 3,568,860 (GRCm39) |
R1669C |
probably damaging |
Het |
| Tmprss15 |
T |
A |
16: 78,821,223 (GRCm39) |
N506I |
probably damaging |
Het |
| Topors |
A |
T |
4: 40,260,686 (GRCm39) |
I866K |
unknown |
Het |
| Trip12 |
G |
T |
1: 84,743,771 (GRCm39) |
T512K |
possibly damaging |
Het |
| Ubr1 |
T |
A |
2: 120,791,585 (GRCm39) |
H133L |
probably damaging |
Het |
| Wwtr1 |
T |
C |
3: 57,366,441 (GRCm39) |
D422G |
probably damaging |
Het |
| Zfp689 |
A |
C |
7: 127,043,758 (GRCm39) |
C291G |
probably damaging |
Het |
| Zfyve9 |
A |
G |
4: 108,576,877 (GRCm39) |
L68P |
possibly damaging |
Het |
| Zswim5 |
G |
T |
4: 116,735,219 (GRCm39) |
R188L |
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 |
|
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'- TAGGGCCTCTAAGTACCCAAC -3'
(R):5'- CGGCCTCCATGAGACATTTTATAAC -3'
Sequencing Primer
(F):5'- TCTAAGTACCCAACAAACTGTTCTTC -3'
(R):5'- CAGAGCAATATAAATGATGAACT -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation