Incidental Mutation 'R4496:Mideas'
| ID |
330987 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mideas
|
| Ensembl Gene |
ENSMUSG00000042507 |
| Gene Name |
mitotic deacetylase associated SANT domain protein |
| Synonyms |
C130039O16Rik, Elmsan1, 9430029N19Rik |
| MMRRC Submission |
041749-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.485)
|
| Stock # |
R4496 (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: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
100% (50/50) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
T |
A |
17: 24,602,947 (GRCm39) |
L514H |
possibly damaging |
Het |
| Abca7 |
T |
C |
10: 79,838,768 (GRCm39) |
F647S |
probably damaging |
Het |
| Ahi1 |
A |
G |
10: 20,841,444 (GRCm39) |
K244E |
probably benign |
Het |
| Ankhd1 |
G |
A |
18: 36,693,839 (GRCm39) |
D17N |
probably damaging |
Het |
| Arvcf |
G |
T |
16: 18,223,932 (GRCm39) |
K890N |
probably damaging |
Het |
| Atosa |
T |
A |
9: 74,938,813 (GRCm39) |
S1038T |
probably damaging |
Het |
| Atp11c |
T |
C |
X: 59,326,104 (GRCm39) |
D478G |
probably damaging |
Het |
| Clasrp |
C |
A |
7: 19,319,165 (GRCm39) |
|
probably benign |
Het |
| Clca3a2 |
C |
T |
3: 144,797,926 (GRCm39) |
D180N |
possibly damaging |
Het |
| Comt |
T |
C |
16: 18,230,437 (GRCm39) |
|
probably null |
Het |
| Cylc2 |
C |
G |
4: 51,229,651 (GRCm39) |
T331R |
unknown |
Het |
| Cyp2d11 |
C |
T |
15: 82,276,149 (GRCm39) |
|
probably benign |
Het |
| Fam169b |
G |
T |
7: 68,007,954 (GRCm39) |
C289F |
possibly damaging |
Het |
| Fastkd5 |
T |
C |
2: 130,458,501 (GRCm39) |
T30A |
probably benign |
Het |
| Fchsd2 |
A |
C |
7: 100,931,702 (GRCm39) |
T753P |
probably benign |
Het |
| Gatd3a |
T |
C |
10: 77,999,377 (GRCm39) |
I145V |
probably damaging |
Het |
| Glis3 |
G |
A |
19: 28,643,527 (GRCm39) |
S5L |
possibly damaging |
Het |
| Gpr158 |
T |
A |
2: 21,831,810 (GRCm39) |
M970K |
probably damaging |
Het |
| Gpt |
A |
T |
15: 76,582,663 (GRCm39) |
Q276L |
probably damaging |
Het |
| Gtf3c3 |
G |
T |
1: 54,463,291 (GRCm39) |
S302R |
probably benign |
Het |
| Hnrnpc |
A |
G |
14: 52,312,888 (GRCm39) |
S229P |
probably benign |
Het |
| Ikzf5 |
T |
C |
7: 130,998,393 (GRCm39) |
|
probably null |
Het |
| Mal2 |
T |
C |
15: 54,461,835 (GRCm39) |
V110A |
probably damaging |
Het |
| Myo3b |
A |
G |
2: 70,084,748 (GRCm39) |
D702G |
probably benign |
Het |
| Myo9b |
G |
A |
8: 71,786,981 (GRCm39) |
R721Q |
probably benign |
Het |
| Nat10 |
T |
A |
2: 103,588,084 (GRCm39) |
I14F |
probably damaging |
Het |
| Nat14 |
C |
T |
7: 4,926,918 (GRCm39) |
T30M |
probably damaging |
Het |
| Ndst4 |
C |
A |
3: 125,476,922 (GRCm39) |
A49D |
probably damaging |
Het |
| Nnt |
A |
T |
13: 119,518,301 (GRCm39) |
M292K |
probably damaging |
Het |
| Obox7 |
C |
T |
7: 14,399,299 (GRCm39) |
T175I |
probably benign |
Het |
| Or2t26 |
T |
A |
11: 49,039,214 (GRCm39) |
N43K |
possibly damaging |
Het |
| Or6c5c |
T |
G |
10: 129,299,430 (GRCm39) |
V295G |
possibly damaging |
Het |
| Plekhm3 |
T |
C |
1: 64,900,395 (GRCm39) |
E634G |
probably damaging |
Het |
| Plxdc2 |
T |
A |
2: 16,517,040 (GRCm39) |
I107K |
probably damaging |
Het |
| Psmb10 |
T |
A |
8: 106,662,660 (GRCm39) |
R226S |
probably damaging |
Het |
| Ptprr |
T |
A |
10: 116,065,407 (GRCm39) |
V160E |
possibly damaging |
Het |
| Sema5a |
T |
A |
15: 32,641,133 (GRCm39) |
L649H |
probably damaging |
Het |
| Sephs1 |
T |
A |
2: 4,911,494 (GRCm39) |
I356K |
probably benign |
Het |
| Serpinb3d |
C |
T |
1: 107,007,022 (GRCm39) |
V229M |
probably damaging |
Het |
| Slc7a4 |
T |
C |
16: 17,393,676 (GRCm39) |
D41G |
probably damaging |
Het |
| Sort1 |
T |
C |
3: 108,217,461 (GRCm39) |
V121A |
probably benign |
Het |
| Tcf20 |
C |
A |
15: 82,739,185 (GRCm39) |
Q755H |
probably damaging |
Het |
| Tmem181a |
T |
A |
17: 6,346,061 (GRCm39) |
L185H |
probably damaging |
Het |
| Ttll13 |
A |
T |
7: 79,906,667 (GRCm39) |
Y445F |
probably benign |
Het |
| Usp40 |
T |
C |
1: 87,923,459 (GRCm39) |
I271V |
possibly damaging |
Het |
| Vmn1r72 |
A |
G |
7: 11,403,791 (GRCm39) |
I219T |
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 |
|
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 |
|
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'- CAGTGTTCAGCATCAGCACC -3'
(R):5'- CCTAAGGCTTAAAGGGAACGTG -3'
Sequencing Primer
(F):5'- TCGATACCGGAGAGAGCTC -3'
(R):5'- CTAAGGCTTAAAGGGAACGTGAAGAG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation