Incidental Mutation 'IGL02009:Msantd2'
ID |
182270 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Msantd2
|
Ensembl Gene |
ENSMUSG00000042138 |
Gene Name |
Myb/SANT-like DNA-binding domain containing 2 |
Synonyms |
BC024479, 2810450G17Rik, 9530092B10Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.152)
|
Stock # |
IGL02009
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
37400317-37435921 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 37434686 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 309
(F309L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148195
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002011]
[ENSMUST00000048604]
[ENSMUST00000211060]
[ENSMUST00000214298]
|
AlphaFold |
Q6NZR2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000002011
|
SMART Domains |
Protein: ENSMUSP00000002011 Gene: ENSMUSG00000001946
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
IG
|
39 |
153 |
4.82e-6 |
SMART |
IGc2
|
168 |
234 |
1.17e-4 |
SMART |
transmembrane domain
|
252 |
274 |
N/A |
INTRINSIC |
low complexity region
|
319 |
332 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000048604
AA Change: F510L
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000043329 Gene: ENSMUSG00000042138 AA Change: F510L
Domain | Start | End | E-Value | Type |
low complexity region
|
46 |
98 |
N/A |
INTRINSIC |
Pfam:Myb_DNA-bind_4
|
101 |
199 |
1.9e-24 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000211060
AA Change: F309L
PolyPhen 2
Score 0.843 (Sensitivity: 0.83; Specificity: 0.93)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211792
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213411
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000214298
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aldh1a3 |
T |
C |
7: 66,051,789 (GRCm39) |
D388G |
probably benign |
Het |
Ankhd1 |
C |
A |
18: 36,757,714 (GRCm39) |
Q803K |
probably damaging |
Het |
Arrdc3 |
A |
G |
13: 81,041,499 (GRCm39) |
N180S |
probably benign |
Het |
Atp11b |
G |
A |
3: 35,868,301 (GRCm39) |
E458K |
probably benign |
Het |
Bend6 |
G |
A |
1: 33,901,827 (GRCm39) |
A185V |
probably benign |
Het |
Ccdc121 |
C |
T |
5: 31,644,835 (GRCm39) |
T196I |
probably benign |
Het |
Chd5 |
A |
G |
4: 152,450,670 (GRCm39) |
D632G |
probably damaging |
Het |
Clec4a1 |
A |
T |
6: 122,909,175 (GRCm39) |
H181L |
probably benign |
Het |
Cntnap5a |
T |
A |
1: 116,085,224 (GRCm39) |
D387E |
probably benign |
Het |
Colq |
G |
A |
14: 31,257,599 (GRCm39) |
S256F |
possibly damaging |
Het |
Cracd |
A |
G |
5: 76,996,817 (GRCm39) |
T92A |
possibly damaging |
Het |
Ctdp1 |
A |
G |
18: 80,499,187 (GRCm39) |
Y252H |
probably damaging |
Het |
Cyp4f17 |
T |
A |
17: 32,743,854 (GRCm39) |
L344Q |
probably damaging |
Het |
Fam83b |
A |
G |
9: 76,399,604 (GRCm39) |
Y500H |
probably damaging |
Het |
Gapvd1 |
G |
A |
2: 34,594,203 (GRCm39) |
P949L |
probably damaging |
Het |
Gp5 |
A |
G |
16: 30,128,482 (GRCm39) |
I64T |
probably benign |
Het |
Il31ra |
A |
G |
13: 112,670,401 (GRCm39) |
V248A |
probably damaging |
Het |
Kdm4a |
C |
T |
4: 118,017,366 (GRCm39) |
A567T |
probably benign |
Het |
Kpna7 |
T |
C |
5: 144,930,888 (GRCm39) |
|
probably null |
Het |
Lrrc8c |
G |
A |
5: 105,755,257 (GRCm39) |
R344H |
probably damaging |
Het |
Man1a |
G |
A |
10: 53,801,621 (GRCm39) |
L413F |
probably damaging |
Het |
Man1a2 |
A |
T |
3: 100,591,978 (GRCm39) |
D67E |
probably damaging |
Het |
Mkln1 |
G |
A |
6: 31,426,455 (GRCm39) |
S243N |
probably benign |
Het |
Mmp19 |
T |
A |
10: 128,634,356 (GRCm39) |
M299K |
probably benign |
Het |
Mstn |
A |
G |
1: 53,101,309 (GRCm39) |
|
probably benign |
Het |
Nat8f5 |
A |
C |
6: 85,794,408 (GRCm39) |
I184R |
probably benign |
Het |
Or5d43 |
C |
T |
2: 88,105,056 (GRCm39) |
M112I |
probably benign |
Het |
Or9m1b |
G |
T |
2: 87,837,117 (GRCm39) |
Q2K |
probably benign |
Het |
Pigc |
A |
G |
1: 161,798,134 (GRCm39) |
K39E |
possibly damaging |
Het |
Pms2 |
T |
A |
5: 143,862,582 (GRCm39) |
L563Q |
probably benign |
Het |
Rpap1 |
A |
G |
2: 119,610,594 (GRCm39) |
S162P |
possibly damaging |
Het |
Rpl3l |
A |
G |
17: 24,951,407 (GRCm39) |
K103E |
probably damaging |
Het |
Slc45a1 |
A |
T |
4: 150,722,447 (GRCm39) |
V479E |
probably damaging |
Het |
Themis2 |
A |
T |
4: 132,512,753 (GRCm39) |
L491Q |
probably damaging |
Het |
Vmn2r17 |
A |
T |
5: 109,600,714 (GRCm39) |
I671L |
possibly damaging |
Het |
Vmn2r6 |
C |
A |
3: 64,445,323 (GRCm39) |
V712L |
possibly damaging |
Het |
Zzz3 |
A |
G |
3: 152,133,752 (GRCm39) |
D270G |
possibly damaging |
Het |
|
Other mutations in Msantd2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00753:Msantd2
|
APN |
9 |
37,434,845 (GRCm39) |
unclassified |
probably benign |
|
IGL01602:Msantd2
|
APN |
9 |
37,428,736 (GRCm39) |
missense |
probably benign |
0.17 |
IGL01604:Msantd2
|
APN |
9 |
37,434,144 (GRCm39) |
missense |
probably benign |
0.29 |
IGL02377:Msantd2
|
APN |
9 |
37,434,602 (GRCm39) |
missense |
possibly damaging |
0.92 |
IGL02406:Msantd2
|
APN |
9 |
37,434,755 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02869:Msantd2
|
APN |
9 |
37,434,796 (GRCm39) |
missense |
probably damaging |
1.00 |
R0281:Msantd2
|
UTSW |
9 |
37,434,515 (GRCm39) |
missense |
possibly damaging |
0.56 |
R0335:Msantd2
|
UTSW |
9 |
37,434,056 (GRCm39) |
missense |
possibly damaging |
0.91 |
R1135:Msantd2
|
UTSW |
9 |
37,434,008 (GRCm39) |
missense |
probably damaging |
0.96 |
R2120:Msantd2
|
UTSW |
9 |
37,434,227 (GRCm39) |
missense |
probably damaging |
1.00 |
R2124:Msantd2
|
UTSW |
9 |
37,434,227 (GRCm39) |
missense |
probably damaging |
1.00 |
R2293:Msantd2
|
UTSW |
9 |
37,401,100 (GRCm39) |
missense |
probably damaging |
0.96 |
R2982:Msantd2
|
UTSW |
9 |
37,434,639 (GRCm39) |
missense |
probably damaging |
0.99 |
R4680:Msantd2
|
UTSW |
9 |
37,434,387 (GRCm39) |
missense |
probably damaging |
1.00 |
R4974:Msantd2
|
UTSW |
9 |
37,400,675 (GRCm39) |
missense |
possibly damaging |
0.66 |
R5153:Msantd2
|
UTSW |
9 |
37,434,509 (GRCm39) |
nonsense |
probably null |
|
R5326:Msantd2
|
UTSW |
9 |
37,428,555 (GRCm39) |
missense |
probably damaging |
1.00 |
R5542:Msantd2
|
UTSW |
9 |
37,428,555 (GRCm39) |
missense |
probably damaging |
1.00 |
R6047:Msantd2
|
UTSW |
9 |
37,434,738 (GRCm39) |
missense |
probably damaging |
1.00 |
R6958:Msantd2
|
UTSW |
9 |
37,434,753 (GRCm39) |
missense |
probably damaging |
1.00 |
R7236:Msantd2
|
UTSW |
9 |
37,400,965 (GRCm39) |
missense |
probably damaging |
1.00 |
R7417:Msantd2
|
UTSW |
9 |
37,434,590 (GRCm39) |
missense |
probably damaging |
1.00 |
R8199:Msantd2
|
UTSW |
9 |
37,400,789 (GRCm39) |
missense |
probably benign |
0.02 |
R8221:Msantd2
|
UTSW |
9 |
37,400,684 (GRCm39) |
missense |
probably damaging |
1.00 |
R8512:Msantd2
|
UTSW |
9 |
37,434,231 (GRCm39) |
missense |
possibly damaging |
0.84 |
R8780:Msantd2
|
UTSW |
9 |
37,434,798 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2014-05-07 |