Incidental Mutation 'R9259:Emsy'
| ID |
702100 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Emsy
|
| Ensembl Gene |
ENSMUSG00000035401 |
| Gene Name |
EMSY, BRCA2-interacting transcriptional repressor |
| Synonyms |
2210018M11Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.520)
|
| Stock # |
R9259 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
98236344-98305990 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 98242757 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 1127
(N1127K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145858
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038359]
[ENSMUST00000205276]
[ENSMUST00000205886]
[ENSMUST00000205911]
[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
AA Change: N1127K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205886
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000205911
AA Change: N933K
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206626
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (65/65) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot6 |
A |
G |
12: 84,155,816 (GRCm39) |
I255V |
possibly damaging |
Het |
| Adcy8 |
A |
T |
15: 64,576,604 (GRCm39) |
I986N |
probably damaging |
Het |
| Agr2 |
T |
A |
12: 36,053,863 (GRCm39) |
M164K |
probably damaging |
Het |
| Akap11 |
G |
A |
14: 78,749,949 (GRCm39) |
H813Y |
|
Het |
| Alas1 |
A |
T |
9: 106,118,835 (GRCm39) |
S195T |
probably benign |
Het |
| Aldoart1 |
T |
C |
4: 72,770,680 (GRCm39) |
T43A |
probably benign |
Het |
| Alms1 |
A |
G |
6: 85,644,873 (GRCm39) |
D2537G |
possibly damaging |
Het |
| Alpk3 |
A |
G |
7: 80,743,302 (GRCm39) |
T1040A |
probably damaging |
Het |
| Ankrd16 |
T |
C |
2: 11,784,532 (GRCm39) |
I120T |
probably damaging |
Het |
| Anks4b |
A |
G |
7: 119,773,278 (GRCm39) |
E46G |
probably benign |
Het |
| Ap3d1 |
A |
T |
10: 80,559,661 (GRCm39) |
V199E |
probably damaging |
Het |
| Atp1a3 |
A |
G |
7: 24,696,956 (GRCm39) |
S236P |
probably damaging |
Het |
| Atp5mc2 |
T |
A |
15: 102,571,561 (GRCm39) |
N110I |
probably damaging |
Het |
| Cabin1 |
A |
G |
10: 75,582,576 (GRCm39) |
M280T |
probably benign |
Het |
| Cdc5l |
T |
C |
17: 45,736,817 (GRCm39) |
T134A |
possibly damaging |
Het |
| Clec4n |
C |
A |
6: 123,212,424 (GRCm39) |
P80Q |
probably damaging |
Het |
| Clip3 |
A |
G |
7: 29,998,375 (GRCm39) |
K274E |
probably benign |
Het |
| Cntrob |
A |
T |
11: 69,211,665 (GRCm39) |
D186E |
possibly damaging |
Het |
| Cplane1 |
T |
C |
15: 8,232,787 (GRCm39) |
V1102A |
possibly damaging |
Het |
| Dcun1d3 |
A |
G |
7: 119,457,052 (GRCm39) |
V220A |
probably benign |
Het |
| Entpd2 |
C |
T |
2: 25,288,614 (GRCm39) |
S206L |
probably damaging |
Het |
| Fgd4 |
T |
C |
16: 16,295,325 (GRCm39) |
E218G |
probably damaging |
Het |
| Fkbp2 |
G |
T |
19: 6,955,960 (GRCm39) |
Q82K |
probably benign |
Het |
| Gpr161 |
T |
C |
1: 165,138,025 (GRCm39) |
Y204H |
probably damaging |
Het |
| Grip1 |
G |
A |
10: 119,874,569 (GRCm39) |
E778K |
possibly damaging |
Het |
| Gstt2 |
C |
T |
10: 75,669,511 (GRCm39) |
D59N |
possibly damaging |
Het |
| Havcr1 |
A |
T |
11: 46,661,318 (GRCm39) |
D206V |
probably damaging |
Het |
| Hoxb9 |
G |
A |
11: 96,162,762 (GRCm39) |
G132D |
probably damaging |
Het |
| Ifi44 |
C |
T |
3: 151,454,875 (GRCm39) |
V117M |
possibly damaging |
Het |
| Inhbe |
A |
G |
10: 127,186,844 (GRCm39) |
F112S |
probably damaging |
Het |
| Iqgap2 |
A |
T |
13: 95,766,561 (GRCm39) |
Y1481N |
probably damaging |
Het |
| Irak4 |
A |
T |
15: 94,456,726 (GRCm39) |
H303L |
probably damaging |
Het |
| Kdm5d |
A |
G |
Y: 942,640 (GRCm39) |
E1435G |
possibly damaging |
Het |
| Kifc1 |
G |
T |
17: 34,101,165 (GRCm39) |
T599K |
possibly damaging |
Het |
| Klhl38 |
T |
C |
15: 58,186,471 (GRCm39) |
E86G |
probably benign |
Het |
| Mcub |
G |
C |
3: 129,720,070 (GRCm39) |
T141R |
probably benign |
Het |
| Moxd2 |
A |
T |
6: 40,860,969 (GRCm39) |
V274D |
probably damaging |
Het |
| Nol6 |
C |
T |
4: 41,118,229 (GRCm39) |
V803M |
possibly damaging |
Het |
| Or8b51 |
C |
T |
9: 38,569,642 (GRCm39) |
|
probably benign |
Het |
| Ovgp1 |
T |
C |
3: 105,893,883 (GRCm39) |
|
probably benign |
Het |
| Pbld1 |
A |
G |
10: 62,897,436 (GRCm39) |
T46A |
possibly damaging |
Het |
| Peli3 |
T |
C |
19: 4,984,486 (GRCm39) |
D192G |
probably benign |
Het |
| Perm1 |
C |
T |
4: 156,303,607 (GRCm39) |
T717I |
probably benign |
Het |
| Pim1 |
G |
A |
17: 29,710,181 (GRCm39) |
A22T |
probably benign |
Het |
| Pkp2 |
C |
T |
16: 16,043,714 (GRCm39) |
P156L |
probably damaging |
Het |
| Ppwd1 |
G |
A |
13: 104,359,612 (GRCm39) |
R130C |
probably damaging |
Het |
| Prdm16 |
C |
A |
4: 154,430,525 (GRCm39) |
W321L |
possibly damaging |
Het |
| Ptprd |
T |
A |
4: 75,990,200 (GRCm39) |
D504V |
probably damaging |
Het |
| Pusl1 |
T |
C |
4: 155,975,639 (GRCm39) |
T65A |
probably damaging |
Het |
| Rtcb |
A |
G |
10: 85,774,925 (GRCm39) |
I490T |
probably damaging |
Het |
| Sec31b |
G |
T |
19: 44,505,855 (GRCm39) |
L967I |
probably damaging |
Het |
| Sec63 |
A |
C |
10: 42,699,937 (GRCm39) |
M666L |
probably benign |
Het |
| Sh3rf1 |
G |
C |
8: 61,806,838 (GRCm39) |
A379P |
probably benign |
Het |
| Slc7a12 |
T |
A |
3: 14,546,376 (GRCm39) |
L174I |
probably damaging |
Het |
| Sptbn4 |
C |
T |
7: 27,067,124 (GRCm39) |
S1935N |
possibly damaging |
Het |
| Susd6 |
A |
T |
12: 80,898,030 (GRCm39) |
Q55L |
probably benign |
Het |
| Tecpr2 |
A |
G |
12: 110,897,867 (GRCm39) |
E373G |
possibly damaging |
Het |
| Tent5c |
T |
C |
3: 100,379,640 (GRCm39) |
Y372C |
probably damaging |
Het |
| Tm6sf2 |
A |
T |
8: 70,530,585 (GRCm39) |
I222L |
probably benign |
Het |
| Tsc22d1 |
T |
A |
14: 76,654,484 (GRCm39) |
V321E |
probably damaging |
Het |
| Tspoap1 |
A |
G |
11: 87,670,350 (GRCm39) |
N172S |
|
Het |
| Unc13d |
AATGCCTCCCATGCC |
AATGCCTCCCATGCCTCCCATGCC |
11: 115,958,998 (GRCm39) |
|
probably benign |
Het |
| Vcan |
G |
A |
13: 89,838,989 (GRCm39) |
S2185F |
probably damaging |
Het |
| Wapl |
G |
T |
14: 34,463,052 (GRCm39) |
V1131L |
probably benign |
Het |
| Zfp658 |
A |
G |
7: 43,224,280 (GRCm39) |
M852V |
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 |
|
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 |
|
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'- TTTTGGCCTACATTCTGAATACGC -3'
(R):5'- GATAACATTTGAGGGGCGCC -3'
Sequencing Primer
(F):5'- TTCTGAATACGCATGAACTGGCC -3'
(R):5'- GTTACAAAGATAACTGGTGGCAGTTC -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation