Incidental Mutation 'R5227:Mideas'
ID |
402694 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mideas
|
Ensembl Gene |
ENSMUSG00000042507 |
Gene Name |
mitotic deacetylase associated SANT domain protein |
Synonyms |
C130039O16Rik, Elmsan1, 9430029N19Rik |
MMRRC Submission |
042800-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.485)
|
Stock # |
R5227 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
84195950-84265655 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 84199661 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Isoleucine
at position 1020
(F1020I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152853
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046266]
[ENSMUST00000061425]
[ENSMUST00000110294]
[ENSMUST00000220974]
|
AlphaFold |
E9Q2I4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000046266
AA Change: F1020I
PolyPhen 2
Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000048120 Gene: ENSMUSG00000042507 AA Change: F1020I
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: ENSMUST00000061425
|
SMART Domains |
Protein: ENSMUSP00000060783 Gene: ENSMUSG00000054383
Domain | Start | End | E-Value | Type |
Pfam:PNMA
|
1 |
326 |
6e-143 |
PFAM |
low complexity region
|
330 |
343 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000110294
AA Change: F1020I
PolyPhen 2
Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000105923 Gene: ENSMUSG00000042507 AA Change: F1020I
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: F1020I
PolyPhen 2
Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
|
Coding Region Coverage |
- 1x: 99.5%
- 3x: 99.0%
- 10x: 98.2%
- 20x: 97.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcg8 |
T |
C |
17: 84,999,249 (GRCm39) |
L115P |
probably damaging |
Het |
Adgrb3 |
A |
C |
1: 25,133,033 (GRCm39) |
M481R |
possibly damaging |
Het |
Adgrd1 |
C |
A |
5: 129,199,647 (GRCm39) |
N161K |
probably benign |
Het |
Alx4 |
T |
A |
2: 93,507,725 (GRCm39) |
V340D |
probably damaging |
Het |
Arid1a |
A |
G |
4: 133,407,716 (GRCm39) |
S2264P |
unknown |
Het |
Azi2 |
A |
T |
9: 117,876,526 (GRCm39) |
H14L |
probably damaging |
Het |
Camsap2 |
A |
G |
1: 136,202,629 (GRCm39) |
|
probably benign |
Het |
Ccpg1 |
T |
A |
9: 72,919,354 (GRCm39) |
L323* |
probably null |
Het |
Cpsf1 |
A |
T |
15: 76,483,148 (GRCm39) |
I943N |
probably damaging |
Het |
Crebrf |
T |
A |
17: 26,978,739 (GRCm39) |
Y476N |
probably damaging |
Het |
Defb10 |
T |
A |
8: 22,351,894 (GRCm39) |
Y46* |
probably null |
Het |
Dock3 |
A |
G |
9: 106,863,269 (GRCm39) |
L703P |
probably damaging |
Het |
Ebf2 |
A |
T |
14: 67,484,518 (GRCm39) |
I181F |
probably damaging |
Het |
Eif3e |
T |
A |
15: 43,114,917 (GRCm39) |
M420L |
probably benign |
Het |
Emilin3 |
T |
A |
2: 160,751,185 (GRCm39) |
Q188L |
probably damaging |
Het |
Fbxl4 |
C |
T |
4: 22,376,840 (GRCm39) |
T92M |
probably damaging |
Het |
Fer1l6 |
C |
T |
15: 58,453,752 (GRCm39) |
Q687* |
probably null |
Het |
Fkrp |
T |
C |
7: 16,544,635 (GRCm39) |
E409G |
possibly damaging |
Het |
Fzd9 |
T |
C |
5: 135,278,460 (GRCm39) |
D475G |
probably benign |
Het |
Gabbr1 |
C |
T |
17: 37,380,958 (GRCm39) |
T767I |
possibly damaging |
Het |
Gdf2 |
G |
A |
14: 33,663,451 (GRCm39) |
|
probably null |
Het |
Gpatch1 |
T |
C |
7: 35,008,776 (GRCm39) |
N82D |
probably benign |
Het |
Heg1 |
T |
A |
16: 33,583,961 (GRCm39) |
L1256Q |
probably damaging |
Het |
Ireb2 |
T |
A |
9: 54,803,885 (GRCm39) |
|
probably null |
Het |
Kansl1 |
T |
G |
11: 104,247,640 (GRCm39) |
H570P |
probably benign |
Het |
Kcna10 |
T |
G |
3: 107,101,744 (GRCm39) |
M125R |
probably damaging |
Het |
Lrp1b |
T |
G |
2: 40,741,805 (GRCm39) |
I3041L |
possibly damaging |
Het |
Mbtd1 |
T |
C |
11: 93,815,474 (GRCm39) |
F354S |
possibly damaging |
Het |
Mov10 |
T |
C |
3: 104,709,894 (GRCm39) |
T331A |
probably benign |
Het |
Ms4a8a |
A |
T |
19: 11,045,780 (GRCm39) |
S243T |
probably damaging |
Het |
Ndufa11 |
T |
C |
17: 57,024,867 (GRCm39) |
S10P |
probably benign |
Het |
Olfml3 |
A |
G |
3: 103,643,737 (GRCm39) |
Y215H |
possibly damaging |
Het |
Or2t45 |
T |
A |
11: 58,669,705 (GRCm39) |
F251I |
possibly damaging |
Het |
Or56b2j |
A |
G |
7: 104,353,529 (GRCm39) |
I252V |
possibly damaging |
Het |
Pclo |
T |
C |
5: 14,763,574 (GRCm39) |
S4016P |
probably benign |
Het |
Pcyox1 |
G |
C |
6: 86,368,726 (GRCm39) |
A264G |
probably damaging |
Het |
Pdzrn3 |
C |
T |
6: 101,130,272 (GRCm39) |
D515N |
probably damaging |
Het |
Pnisr |
A |
G |
4: 21,874,587 (GRCm39) |
|
probably benign |
Het |
Prc1 |
T |
C |
7: 79,962,927 (GRCm39) |
S574P |
probably damaging |
Het |
Ranbp3l |
T |
A |
15: 9,037,186 (GRCm39) |
V16D |
probably damaging |
Het |
Rfx1 |
T |
C |
8: 84,800,687 (GRCm39) |
V96A |
probably damaging |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Sfmbt1 |
T |
C |
14: 30,537,211 (GRCm39) |
|
probably null |
Het |
Siglecf |
T |
C |
7: 43,001,364 (GRCm39) |
Y111H |
probably damaging |
Het |
Snx14 |
G |
A |
9: 88,280,347 (GRCm39) |
T536I |
possibly damaging |
Het |
Spindoc |
A |
G |
19: 7,351,512 (GRCm39) |
V204A |
probably benign |
Het |
Sptbn5 |
A |
G |
2: 119,915,812 (GRCm39) |
|
probably benign |
Het |
Swt1 |
G |
A |
1: 151,278,727 (GRCm39) |
Q227* |
probably null |
Het |
Tg |
A |
G |
15: 66,631,416 (GRCm39) |
I562V |
possibly damaging |
Het |
Trip11 |
T |
A |
12: 101,851,179 (GRCm39) |
I677F |
probably damaging |
Het |
Vmn1r49 |
G |
A |
6: 90,049,753 (GRCm39) |
T83I |
probably benign |
Het |
Vmn1r90 |
T |
C |
7: 14,295,601 (GRCm39) |
K166E |
possibly damaging |
Het |
Vmn2r124 |
T |
C |
17: 18,269,819 (GRCm39) |
I25T |
possibly damaging |
Het |
Vps13d |
A |
T |
4: 144,907,777 (GRCm39) |
|
probably null |
Het |
Zfp106 |
T |
C |
2: 120,354,449 (GRCm39) |
I170V |
probably benign |
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 |
R4496:Mideas
|
UTSW |
12 |
84,203,245 (GRCm39) |
missense |
probably benign |
0.00 |
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'- TACCCTGGAAACCCACTGAG -3'
(R):5'- AGGGCCCTCTGTTTCTTCAG -3'
Sequencing Primer
(F):5'- TGGAAACCCACTGAGCTGATC -3'
(R):5'- GTTTCTTCAGATGCCAGAACC -3'
|
Posted On |
2016-07-22 |