Incidental Mutation 'R4366:Mideas'
| ID |
325765 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mideas
|
| Ensembl Gene |
ENSMUSG00000042507 |
| Gene Name |
mitotic deacetylase associated SANT domain protein |
| Synonyms |
C130039O16Rik, Elmsan1, 9430029N19Rik |
| MMRRC Submission |
041114-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.485)
|
| Stock # |
R4366 (G1)
|
| Quality Score |
225 |
|
Status
|
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: 99.3%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.7%
|
| Validation Efficiency |
95% (57/60) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf5 |
A |
C |
17: 43,752,860 (GRCm39) |
T396P |
probably damaging |
Het |
| Apob |
A |
T |
12: 8,066,083 (GRCm39) |
I4318F |
possibly damaging |
Het |
| Apol7c |
T |
G |
15: 77,410,589 (GRCm39) |
D119A |
probably benign |
Het |
| App |
G |
T |
16: 84,853,321 (GRCm39) |
D252E |
unknown |
Het |
| C4a |
T |
A |
17: 35,033,885 (GRCm39) |
|
noncoding transcript |
Het |
| Cacna1b |
T |
C |
2: 24,592,632 (GRCm39) |
Y515C |
probably damaging |
Het |
| Cacna1f |
G |
T |
X: 7,476,213 (GRCm39) |
A123S |
probably damaging |
Het |
| Cldn6 |
G |
C |
17: 23,900,494 (GRCm39) |
A153P |
probably benign |
Het |
| Cmya5 |
T |
C |
13: 93,228,464 (GRCm39) |
N2208S |
probably benign |
Het |
| Csnk1g1 |
A |
G |
9: 65,927,135 (GRCm39) |
T101A |
probably benign |
Het |
| Ddx46 |
T |
A |
13: 55,811,049 (GRCm39) |
D544E |
probably benign |
Het |
| Dmxl1 |
T |
A |
18: 50,011,084 (GRCm39) |
C1080* |
probably null |
Het |
| Dst |
T |
C |
1: 34,290,959 (GRCm39) |
S3335P |
probably damaging |
Het |
| Efnb3 |
T |
C |
11: 69,446,771 (GRCm39) |
K313R |
probably damaging |
Het |
| Elf2 |
G |
A |
3: 51,215,570 (GRCm39) |
Q47* |
probably null |
Het |
| Epc2 |
A |
G |
2: 49,437,566 (GRCm39) |
K657E |
possibly damaging |
Het |
| Ephx4 |
A |
G |
5: 107,551,679 (GRCm39) |
|
probably benign |
Het |
| Ereg |
T |
C |
5: 91,234,659 (GRCm39) |
I24T |
probably benign |
Het |
| Evc2 |
C |
A |
5: 37,496,013 (GRCm39) |
A41D |
possibly damaging |
Het |
| Fkbp15 |
A |
G |
4: 62,254,651 (GRCm39) |
V283A |
probably benign |
Het |
| Flrt3 |
T |
C |
2: 140,502,327 (GRCm39) |
T434A |
probably damaging |
Het |
| Gm572 |
A |
G |
4: 148,739,322 (GRCm39) |
D50G |
possibly damaging |
Het |
| Hecw1 |
C |
T |
13: 14,490,749 (GRCm39) |
D748N |
probably damaging |
Het |
| Hivep3 |
A |
C |
4: 119,953,286 (GRCm39) |
H534P |
possibly damaging |
Het |
| Hspa4l |
C |
A |
3: 40,721,241 (GRCm39) |
|
probably null |
Het |
| Ipo7 |
T |
C |
7: 109,628,919 (GRCm39) |
M63T |
possibly damaging |
Het |
| Ipo7 |
A |
T |
7: 109,647,423 (GRCm39) |
T614S |
possibly damaging |
Het |
| Krt87 |
T |
G |
15: 101,385,395 (GRCm39) |
M326L |
probably benign |
Het |
| Mbd5 |
T |
A |
2: 49,162,978 (GRCm39) |
N261K |
probably damaging |
Het |
| Mcam |
T |
A |
9: 44,045,994 (GRCm39) |
L3Q |
probably damaging |
Het |
| Mcoln3 |
C |
A |
3: 145,846,247 (GRCm39) |
T519K |
possibly damaging |
Het |
| Mrgprx1 |
C |
A |
7: 47,670,941 (GRCm39) |
A269S |
probably damaging |
Het |
| Mypn |
T |
C |
10: 63,028,487 (GRCm39) |
E192G |
probably benign |
Het |
| Nup205 |
C |
A |
6: 35,168,962 (GRCm39) |
P397Q |
probably benign |
Het |
| Obsl1 |
A |
C |
1: 75,464,693 (GRCm39) |
L1576R |
possibly damaging |
Het |
| Ofcc1 |
A |
G |
13: 40,168,937 (GRCm39) |
S817P |
probably benign |
Het |
| Or6c210 |
A |
T |
10: 129,496,400 (GRCm39) |
M242L |
probably benign |
Het |
| Or8b12c |
A |
T |
9: 37,715,486 (GRCm39) |
H93L |
probably benign |
Het |
| Pcdhgb7 |
A |
G |
18: 37,887,125 (GRCm39) |
Y765C |
possibly damaging |
Het |
| Pde7a |
A |
G |
3: 19,365,026 (GRCm39) |
|
probably null |
Het |
| Phip |
C |
T |
9: 82,782,922 (GRCm39) |
|
probably benign |
Het |
| Rhbdl2 |
T |
A |
4: 123,703,728 (GRCm39) |
M1K |
probably null |
Het |
| Ripor2 |
C |
T |
13: 24,905,694 (GRCm39) |
P947S |
probably benign |
Het |
| Sf3a3 |
A |
G |
4: 124,618,932 (GRCm39) |
T298A |
probably benign |
Het |
| Slc25a29 |
C |
T |
12: 108,797,097 (GRCm39) |
|
probably benign |
Het |
| Spinkl |
T |
G |
18: 44,307,650 (GRCm39) |
T4P |
possibly damaging |
Het |
| Stk33 |
G |
A |
7: 108,879,002 (GRCm39) |
S449L |
probably benign |
Het |
| Suz12 |
T |
A |
11: 79,892,988 (GRCm39) |
|
probably benign |
Het |
| Timp2 |
T |
A |
11: 118,201,497 (GRCm39) |
I124F |
probably damaging |
Het |
| Tlr1 |
C |
T |
5: 65,083,180 (GRCm39) |
D466N |
probably benign |
Het |
| Tmem200b |
A |
G |
4: 131,649,781 (GRCm39) |
I234V |
possibly damaging |
Het |
| Ubr1 |
C |
A |
2: 120,801,084 (GRCm39) |
|
probably benign |
Het |
| Usp33 |
C |
A |
3: 152,074,149 (GRCm39) |
Q332K |
probably benign |
Het |
| Zfr |
A |
G |
15: 12,156,416 (GRCm39) |
E634G |
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 |
|
R2940: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 |
|
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'- CCAGTGTTCAGCATCAGCAC -3'
(R):5'- CCTAAGGCTTAAAGGGAACGTG -3'
Sequencing Primer
(F):5'- TCGATACCGGAGAGAGCTC -3'
(R):5'- CTAAGGCTTAAAGGGAACGTGAAGAG -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation