Incidental Mutation 'R2940:Mideas'
| ID |
255148 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mideas
|
| Ensembl Gene |
ENSMUSG00000042507 |
| Gene Name |
mitotic deacetylase associated SANT domain protein |
| Synonyms |
C130039O16Rik, Elmsan1, 9430029N19Rik |
| MMRRC Submission |
040517-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.485)
|
| Stock # |
R2940 (G1)
|
| Quality Score |
216 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
84195950-84265655 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 84203245 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Serine
at position 886
(G886S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105923
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046266]
[ENSMUST00000110294]
[ENSMUST00000220974]
|
| AlphaFold |
E9Q2I4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000046266
AA Change: G886S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000048120
Gene: ENSMUSG00000042507
AA Change: G886S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
28 |
39 |
N/A |
INTRINSIC |
|
low complexity region
|
64 |
75 |
N/A |
INTRINSIC |
|
low complexity region
|
107 |
117 |
N/A |
INTRINSIC |
|
low complexity region
|
124 |
132 |
N/A |
INTRINSIC |
|
low complexity region
|
247 |
265 |
N/A |
INTRINSIC |
|
low complexity region
|
377 |
388 |
N/A |
INTRINSIC |
|
low complexity region
|
556 |
567 |
N/A |
INTRINSIC |
|
low complexity region
|
643 |
654 |
N/A |
INTRINSIC |
|
ELM2
|
715 |
772 |
6.76e-14 |
SMART |
|
low complexity region
|
798 |
814 |
N/A |
INTRINSIC |
|
SANT
|
821 |
869 |
1.44e-5 |
SMART |
|
low complexity region
|
906 |
926 |
N/A |
INTRINSIC |
|
low complexity region
|
942 |
956 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
1030 |
1052 |
4.72e-2 |
SMART |
|
low complexity region
|
1053 |
1082 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110294
AA Change: G886S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000105923
Gene: ENSMUSG00000042507
AA Change: G886S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
28 |
39 |
N/A |
INTRINSIC |
|
low complexity region
|
64 |
75 |
N/A |
INTRINSIC |
|
low complexity region
|
107 |
117 |
N/A |
INTRINSIC |
|
low complexity region
|
124 |
132 |
N/A |
INTRINSIC |
|
low complexity region
|
247 |
265 |
N/A |
INTRINSIC |
|
low complexity region
|
377 |
388 |
N/A |
INTRINSIC |
|
low complexity region
|
556 |
567 |
N/A |
INTRINSIC |
|
low complexity region
|
643 |
654 |
N/A |
INTRINSIC |
|
ELM2
|
715 |
772 |
6.76e-14 |
SMART |
|
low complexity region
|
798 |
814 |
N/A |
INTRINSIC |
|
SANT
|
821 |
869 |
1.44e-5 |
SMART |
|
low complexity region
|
906 |
926 |
N/A |
INTRINSIC |
|
low complexity region
|
942 |
956 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
1030 |
1052 |
4.72e-2 |
SMART |
|
low complexity region
|
1053 |
1082 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130038
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137562
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220974
AA Change: G886S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy2 |
A |
G |
13: 68,878,424 (GRCm39) |
W405R |
probably damaging |
Het |
| Apc |
G |
A |
18: 34,409,723 (GRCm39) |
R221H |
probably damaging |
Het |
| Armcx6 |
A |
T |
X: 133,650,625 (GRCm39) |
W69R |
probably damaging |
Het |
| Bltp1 |
A |
G |
3: 37,012,954 (GRCm39) |
D1878G |
probably damaging |
Het |
| Carm1 |
C |
A |
9: 21,490,692 (GRCm39) |
|
probably null |
Het |
| Clasrp |
C |
A |
7: 19,319,165 (GRCm39) |
|
probably benign |
Het |
| Cngb1 |
T |
C |
8: 95,978,735 (GRCm39) |
I573V |
probably benign |
Het |
| Crybg2 |
A |
G |
4: 133,809,745 (GRCm39) |
H1517R |
possibly damaging |
Het |
| Dixdc1 |
G |
A |
9: 50,622,259 (GRCm39) |
A25V |
probably damaging |
Het |
| Dmap1 |
G |
A |
4: 117,533,202 (GRCm39) |
T284M |
possibly damaging |
Het |
| Dock6 |
A |
G |
9: 21,750,496 (GRCm39) |
F473L |
possibly damaging |
Het |
| Eif3a |
T |
C |
19: 60,762,115 (GRCm39) |
T487A |
probably benign |
Het |
| Faiml |
A |
G |
9: 99,114,527 (GRCm39) |
C121R |
probably damaging |
Het |
| Fam180a |
A |
T |
6: 35,290,564 (GRCm39) |
S140T |
possibly damaging |
Het |
| Fibcd1 |
T |
C |
2: 31,707,276 (GRCm39) |
Y327C |
probably damaging |
Het |
| Haghl |
A |
G |
17: 26,004,060 (GRCm39) |
V8A |
possibly damaging |
Het |
| Igfbp1 |
A |
G |
11: 7,151,970 (GRCm39) |
T258A |
probably benign |
Het |
| Isl1 |
T |
C |
13: 116,444,835 (GRCm39) |
T65A |
possibly damaging |
Het |
| Khdrbs3 |
T |
A |
15: 68,921,239 (GRCm39) |
D185E |
probably damaging |
Het |
| Klc1 |
C |
T |
12: 111,772,451 (GRCm39) |
R157C |
possibly damaging |
Het |
| Lamc3 |
A |
G |
2: 31,830,714 (GRCm39) |
S1484G |
probably benign |
Het |
| Lman1 |
G |
T |
18: 66,117,344 (GRCm39) |
P466Q |
possibly damaging |
Het |
| Map3k4 |
C |
T |
17: 12,480,157 (GRCm39) |
E682K |
probably damaging |
Het |
| Myo9b |
G |
A |
8: 71,786,981 (GRCm39) |
R721Q |
probably benign |
Het |
| Nbea |
C |
G |
3: 55,842,045 (GRCm39) |
E1879Q |
probably benign |
Het |
| Or8b12i |
C |
A |
9: 20,082,061 (GRCm39) |
G269W |
probably benign |
Het |
| Or8g34 |
G |
A |
9: 39,373,226 (GRCm39) |
M166I |
probably benign |
Het |
| Pigc |
T |
C |
1: 161,798,239 (GRCm39) |
Y74H |
possibly damaging |
Het |
| Plek |
C |
T |
11: 16,942,887 (GRCm39) |
|
probably null |
Het |
| Pramel28 |
A |
G |
4: 143,693,247 (GRCm39) |
V77A |
probably benign |
Het |
| Rasgrf1 |
C |
T |
9: 89,873,767 (GRCm39) |
A692V |
possibly damaging |
Het |
| Rbp3 |
C |
T |
14: 33,677,975 (GRCm39) |
T641M |
probably damaging |
Het |
| Rnf25 |
A |
G |
1: 74,635,047 (GRCm39) |
V135A |
possibly damaging |
Het |
| Senp6 |
G |
A |
9: 80,051,124 (GRCm39) |
A1134T |
probably benign |
Het |
| Sh3rf2 |
G |
A |
18: 42,244,505 (GRCm39) |
|
probably null |
Het |
| Sh3tc2 |
A |
G |
18: 62,122,757 (GRCm39) |
D506G |
probably damaging |
Het |
| Slc13a1 |
T |
A |
6: 24,090,779 (GRCm39) |
I547F |
possibly damaging |
Het |
| Slc26a6 |
G |
A |
9: 108,734,236 (GRCm39) |
V206I |
probably benign |
Het |
| Smc1a |
T |
A |
X: 150,816,695 (GRCm39) |
Y516N |
probably damaging |
Het |
| Sorbs1 |
T |
C |
19: 40,362,015 (GRCm39) |
D123G |
probably damaging |
Het |
| Tecta |
A |
T |
9: 42,289,290 (GRCm39) |
M425K |
possibly damaging |
Het |
| Trpv1 |
A |
G |
11: 73,145,675 (GRCm39) |
K403R |
probably damaging |
Het |
| Ttc39d |
A |
G |
17: 80,524,982 (GRCm39) |
Y547C |
probably damaging |
Het |
| Tubb6 |
A |
G |
18: 67,534,994 (GRCm39) |
N298D |
probably damaging |
Het |
| Xpo7 |
G |
T |
14: 70,904,577 (GRCm39) |
L1020I |
probably benign |
Het |
| Xpo7 |
A |
T |
14: 70,904,576 (GRCm39) |
L1020Q |
probably damaging |
Het |
| Zswim4 |
A |
T |
8: 84,950,377 (GRCm39) |
L611Q |
probably damaging |
Het |
|
| Other mutations in Mideas |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00334:Mideas
|
APN |
12 |
84,219,629 (GRCm39) |
nonsense |
probably null |
|
|
IGL00913:Mideas
|
APN |
12 |
84,219,632 (GRCm39) |
missense |
probably benign |
|
|
IGL00944:Mideas
|
APN |
12 |
84,207,322 (GRCm39) |
splice site |
probably benign |
|
|
IGL01108:Mideas
|
APN |
12 |
84,220,465 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01952:Mideas
|
APN |
12 |
84,220,040 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01961:Mideas
|
APN |
12 |
84,220,388 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02188:Mideas
|
APN |
12 |
84,209,100 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02700:Mideas
|
APN |
12 |
84,199,636 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0645:Mideas
|
UTSW |
12 |
84,205,077 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R1387:Mideas
|
UTSW |
12 |
84,199,705 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1740:Mideas
|
UTSW |
12 |
84,219,676 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1769:Mideas
|
UTSW |
12 |
84,205,124 (GRCm39) |
splice site |
probably benign |
|
|
R1795:Mideas
|
UTSW |
12 |
84,205,748 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2146:Mideas
|
UTSW |
12 |
84,219,809 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2872:Mideas
|
UTSW |
12 |
84,203,245 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2872:Mideas
|
UTSW |
12 |
84,203,245 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3408:Mideas
|
UTSW |
12 |
84,203,245 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3689:Mideas
|
UTSW |
12 |
84,203,245 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3691:Mideas
|
UTSW |
12 |
84,203,245 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3840:Mideas
|
UTSW |
12 |
84,218,383 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4364:Mideas
|
UTSW |
12 |
84,203,245 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4366:Mideas
|
UTSW |
12 |
84,203,245 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4392:Mideas
|
UTSW |
12 |
84,219,885 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4439:Mideas
|
UTSW |
12 |
84,203,245 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4440:Mideas
|
UTSW |
12 |
84,203,245 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4496:Mideas
|
UTSW |
12 |
84,203,245 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5227:Mideas
|
UTSW |
12 |
84,199,661 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6921:Mideas
|
UTSW |
12 |
84,203,233 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7675:Mideas
|
UTSW |
12 |
84,220,574 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8956:Mideas
|
UTSW |
12 |
84,209,102 (GRCm39) |
missense |
probably benign |
|
|
R8990:Mideas
|
UTSW |
12 |
84,218,380 (GRCm39) |
missense |
probably benign |
|
|
R9058:Mideas
|
UTSW |
12 |
84,220,642 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9106:Mideas
|
UTSW |
12 |
84,199,327 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9205:Mideas
|
UTSW |
12 |
84,199,661 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9369:Mideas
|
UTSW |
12 |
84,219,670 (GRCm39) |
missense |
probably benign |
|
|
R9643:Mideas
|
UTSW |
12 |
84,219,885 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9794:Mideas
|
UTSW |
12 |
84,220,576 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1176:Mideas
|
UTSW |
12 |
84,220,275 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1176:Mideas
|
UTSW |
12 |
84,220,273 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Mideas
|
UTSW |
12 |
84,209,132 (GRCm39) |
nonsense |
probably null |
|
|
Z1177:Mideas
|
UTSW |
12 |
84,199,765 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGTTCAGCATCAGCACCATC -3'
(R):5'- CCTAAGGCTTAAAGGGAACGTG -3'
Sequencing Primer
(F):5'- TCGATACCGGAGAGAGCTC -3'
(R):5'- CTAAGGCTTAAAGGGAACGTGAAGAG -3'
|
| Posted On |
2014-12-29 |
Incidental Mutation