Incidental Mutation 'R7675:Mideas'
| ID |
592431 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mideas
|
| Ensembl Gene |
ENSMUSG00000042507 |
| Gene Name |
mitotic deacetylase associated SANT domain protein |
| Synonyms |
C130039O16Rik, Elmsan1, 9430029N19Rik |
| MMRRC Submission |
045706-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.485)
|
| Stock # |
R7675 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
84195950-84265655 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 84220574 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Threonine
at position 127
(P127T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048120
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046266]
[ENSMUST00000110294]
[ENSMUST00000220974]
|
| AlphaFold |
E9Q2I4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000046266
AA Change: P127T
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000048120
Gene: ENSMUSG00000042507
AA Change: P127T
| 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 damaging
Transcript: ENSMUST00000110294
AA Change: P127T
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000105923
Gene: ENSMUSG00000042507
AA Change: P127T
| 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 damaging
Transcript: ENSMUST00000220974
AA Change: P127T
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
97% (28/29) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2010109A12Rik |
T |
C |
5: 93,361,233 (GRCm39) |
S96P |
unknown |
Het |
| Acaca |
A |
G |
11: 84,206,742 (GRCm39) |
E1534G |
probably benign |
Het |
| Adam7 |
A |
T |
14: 68,737,302 (GRCm39) |
D773E |
probably benign |
Het |
| Cacna1s |
T |
A |
1: 136,038,612 (GRCm39) |
I1398N |
probably damaging |
Het |
| Calu |
C |
T |
6: 29,356,516 (GRCm39) |
T14I |
probably benign |
Het |
| Casp8 |
A |
G |
1: 58,863,106 (GRCm39) |
D2G |
possibly damaging |
Het |
| Cldn1 |
T |
C |
16: 26,190,261 (GRCm39) |
N39S |
probably benign |
Het |
| Clspn |
T |
C |
4: 126,460,113 (GRCm39) |
S447P |
probably benign |
Het |
| Eef2k |
A |
G |
7: 120,457,727 (GRCm39) |
T29A |
probably benign |
Het |
| Gm5519 |
G |
C |
19: 33,802,428 (GRCm39) |
G157A |
probably benign |
Het |
| Gucy2c |
A |
G |
6: 136,693,030 (GRCm39) |
V723A |
possibly damaging |
Het |
| Ighv1-69 |
A |
T |
12: 115,587,209 (GRCm39) |
W3R |
probably damaging |
Het |
| Inava |
G |
T |
1: 136,143,741 (GRCm39) |
A565E |
probably benign |
Het |
| Krtap16-1 |
A |
G |
11: 99,876,259 (GRCm39) |
C382R |
possibly damaging |
Het |
| Lrrc8a |
G |
A |
2: 30,145,680 (GRCm39) |
D165N |
probably damaging |
Het |
| Naaladl2 |
T |
A |
3: 24,605,816 (GRCm39) |
M148L |
probably benign |
Het |
| Nphp3 |
A |
T |
9: 103,893,287 (GRCm39) |
E424D |
probably benign |
Het |
| Prpf40a |
T |
C |
2: 53,035,648 (GRCm39) |
K714R |
possibly damaging |
Het |
| Ptpn23 |
A |
T |
9: 110,216,094 (GRCm39) |
L1254* |
probably null |
Het |
| Sap30l |
A |
G |
11: 57,700,867 (GRCm39) |
K174E |
probably damaging |
Het |
| Serpinb9d |
C |
T |
13: 33,386,759 (GRCm39) |
Q276* |
probably null |
Het |
| Sp140l2 |
C |
T |
1: 85,224,736 (GRCm39) |
M266I |
probably benign |
Het |
| Spata31f3 |
TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG |
TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG |
4: 42,871,823 (GRCm39) |
|
probably benign |
Het |
| Tex14 |
A |
G |
11: 87,400,504 (GRCm39) |
D432G |
probably damaging |
Het |
| Tmsb10b |
A |
T |
7: 24,561,784 (GRCm39) |
T28S |
probably benign |
Het |
| Unc119 |
G |
A |
11: 78,234,423 (GRCm39) |
G11R |
probably damaging |
Het |
| Usp36 |
A |
G |
11: 118,154,522 (GRCm39) |
V965A |
probably benign |
Het |
| Vmn2r4 |
A |
T |
3: 64,322,657 (GRCm39) |
Y21N |
probably benign |
Het |
| Zbtb38 |
G |
T |
9: 96,567,594 (GRCm39) |
D1163E |
probably benign |
Het |
| Zfp62 |
A |
G |
11: 49,106,847 (GRCm39) |
I313V |
possibly damaging |
Het |
| Zfp980 |
C |
T |
4: 145,428,164 (GRCm39) |
Q298* |
probably null |
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 |
|
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 |
|
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'- TTCTTGGCTGCATGGAAAGAG -3'
(R):5'- CTCTCCTGAACAGTGTGGTG -3'
Sequencing Primer
(F):5'- ACCTTCTGTGGCACCATGG -3'
(R):5'- TGTATGGATCTGAGAGGACCAC -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation