Incidental Mutation 'IGL02998:Msantd1'
| ID |
407196 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Msantd1
|
| Ensembl Gene |
ENSMUSG00000051246 |
| Gene Name |
Myb/SANT-like DNA-binding domain containing 1 |
| Synonyms |
A930005I04Rik, LOC231132 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02998
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
35071581-35084333 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 35078768 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 101
(D101G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148522
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050535]
[ENSMUST00000202205]
[ENSMUST00000212362]
|
| AlphaFold |
Q8BIL2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000050535
AA Change: D114G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000057362
Gene: ENSMUSG00000051246
AA Change: D114G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Myb_DNA-bind_4
|
43 |
131 |
1.1e-14 |
PFAM |
|
low complexity region
|
183 |
203 |
N/A |
INTRINSIC |
|
coiled coil region
|
215 |
246 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201636
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202205
|
| SMART Domains |
Protein: ENSMUSP00000144008
Gene: ENSMUSG00000051246
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Myb_DNA-bind_4
|
43 |
129 |
9.4e-9 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000212362
AA Change: D101G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb2 |
C |
T |
4: 129,912,862 (GRCm39) |
A1329V |
probably benign |
Het |
| Bhlha9 |
G |
A |
11: 76,563,570 (GRCm39) |
A66T |
probably damaging |
Het |
| Dock10 |
G |
A |
1: 80,551,259 (GRCm39) |
R681W |
probably damaging |
Het |
| Dst |
T |
C |
1: 34,307,356 (GRCm39) |
L1433P |
probably damaging |
Het |
| Ercc6 |
A |
G |
14: 32,279,814 (GRCm39) |
I610V |
probably benign |
Het |
| Fras1 |
T |
C |
5: 96,850,040 (GRCm39) |
F1859S |
possibly damaging |
Het |
| Gad1 |
A |
G |
2: 70,420,163 (GRCm39) |
Y349C |
probably damaging |
Het |
| Galnt1 |
T |
A |
18: 24,397,469 (GRCm39) |
I190N |
probably damaging |
Het |
| Gm28042 |
G |
A |
2: 119,870,635 (GRCm39) |
V768I |
possibly damaging |
Het |
| Gm8220 |
T |
C |
14: 44,525,765 (GRCm39) |
|
probably null |
Het |
| Higd1a |
A |
G |
9: 121,678,690 (GRCm39) |
|
probably benign |
Het |
| Itga4 |
T |
A |
2: 79,108,165 (GRCm39) |
Y206N |
possibly damaging |
Het |
| Itpk1 |
A |
G |
12: 102,545,398 (GRCm39) |
V235A |
probably damaging |
Het |
| Itpka |
A |
G |
2: 119,581,242 (GRCm39) |
Q425R |
possibly damaging |
Het |
| Kpna6 |
T |
A |
4: 129,549,297 (GRCm39) |
I162F |
probably benign |
Het |
| Ntrk3 |
T |
C |
7: 78,227,405 (GRCm39) |
I43V |
probably damaging |
Het |
| Pias3 |
G |
A |
3: 96,609,495 (GRCm39) |
E271K |
probably damaging |
Het |
| Pparg |
A |
G |
6: 115,440,049 (GRCm39) |
I178V |
probably benign |
Het |
| Rxfp3 |
A |
T |
15: 11,037,054 (GRCm39) |
M106K |
probably damaging |
Het |
| Scn3b |
G |
A |
9: 40,199,713 (GRCm39) |
V210M |
possibly damaging |
Het |
| Shisa3 |
A |
G |
5: 67,765,848 (GRCm39) |
D33G |
possibly damaging |
Het |
| Suz12 |
T |
A |
11: 79,920,149 (GRCm39) |
W570R |
probably damaging |
Het |
| Vmn2r107 |
A |
T |
17: 20,578,017 (GRCm39) |
K442M |
probably damaging |
Het |
|
| Other mutations in Msantd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02514:Msantd1
|
APN |
5 |
35,078,887 (GRCm39) |
missense |
probably damaging |
0.99 |
|
G1patch:Msantd1
|
UTSW |
5 |
35,078,765 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0538:Msantd1
|
UTSW |
5 |
35,075,069 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1658:Msantd1
|
UTSW |
5 |
35,078,906 (GRCm39) |
missense |
probably benign |
0.43 |
|
R1658:Msantd1
|
UTSW |
5 |
35,078,905 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3745:Msantd1
|
UTSW |
5 |
35,080,811 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5241:Msantd1
|
UTSW |
5 |
35,078,813 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6009:Msantd1
|
UTSW |
5 |
35,075,049 (GRCm39) |
missense |
probably benign |
0.45 |
|
R6406:Msantd1
|
UTSW |
5 |
35,080,665 (GRCm39) |
splice site |
probably null |
|
|
R6725:Msantd1
|
UTSW |
5 |
35,078,765 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7055:Msantd1
|
UTSW |
5 |
35,075,005 (GRCm39) |
missense |
probably benign |
|
|
R7327:Msantd1
|
UTSW |
5 |
35,075,039 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9265:Msantd1
|
UTSW |
5 |
35,080,861 (GRCm39) |
nonsense |
probably null |
|
|
R9279:Msantd1
|
UTSW |
5 |
35,080,885 (GRCm39) |
missense |
probably benign |
|
|
R9623:Msantd1
|
UTSW |
5 |
35,075,076 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation