Incidental Mutation 'R2293:Msantd2'
ID |
245079 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Msantd2
|
Ensembl Gene |
ENSMUSG00000042138 |
Gene Name |
Myb/SANT-like DNA-binding domain containing 2 |
Synonyms |
BC024479, 2810450G17Rik, 9530092B10Rik |
MMRRC Submission |
040292-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.152)
|
Stock # |
R2293 (G1)
|
Quality Score |
110 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
37400317-37435921 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 37401100 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 69
(T69A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148126
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048604]
[ENSMUST00000209391]
[ENSMUST00000211060]
[ENSMUST00000214298]
|
AlphaFold |
Q6NZR2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000048604
AA Change: T161A
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000043329 Gene: ENSMUSG00000042138 AA Change: T161A
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 |
probably damaging
Transcript: ENSMUST00000209391
AA Change: T69A
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209769
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000211060
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211224
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211792
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000214298
AA Change: T69A
PolyPhen 2
Score 0.717 (Sensitivity: 0.86; Specificity: 0.92)
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 22 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ano9 |
T |
C |
7: 140,682,428 (GRCm39) |
N640S |
probably benign |
Het |
Aox4 |
T |
A |
1: 58,261,096 (GRCm39) |
I143N |
probably damaging |
Het |
Arhgef11 |
C |
T |
3: 87,635,297 (GRCm39) |
R869C |
probably damaging |
Het |
Bcl6 |
T |
C |
16: 23,796,359 (GRCm39) |
N23D |
probably damaging |
Het |
Brca2 |
T |
A |
5: 150,483,999 (GRCm39) |
F2939L |
possibly damaging |
Het |
Bsn |
C |
T |
9: 107,990,266 (GRCm39) |
A1829T |
possibly damaging |
Het |
Cyp2j6 |
T |
A |
4: 96,417,670 (GRCm39) |
T318S |
possibly damaging |
Het |
Dlg5 |
A |
C |
14: 24,208,180 (GRCm39) |
S1009A |
probably benign |
Het |
Dlx6 |
A |
G |
6: 6,867,246 (GRCm39) |
Y283C |
probably damaging |
Het |
Dnah10 |
T |
C |
5: 124,896,285 (GRCm39) |
Y3550H |
probably damaging |
Het |
Dock7 |
T |
C |
4: 98,854,606 (GRCm39) |
S1553G |
probably damaging |
Het |
Ice1 |
C |
A |
13: 70,763,076 (GRCm39) |
D193Y |
probably damaging |
Het |
Mdga2 |
A |
T |
12: 66,615,759 (GRCm39) |
L547* |
probably null |
Het |
Mgat4a |
C |
A |
1: 37,491,673 (GRCm39) |
R215L |
probably damaging |
Het |
Muc5ac |
A |
G |
7: 141,360,936 (GRCm39) |
T1416A |
probably damaging |
Het |
Nup214 |
T |
C |
2: 31,916,887 (GRCm39) |
S1181P |
probably benign |
Het |
Pip5k1c |
A |
G |
10: 81,149,918 (GRCm39) |
E42G |
possibly damaging |
Het |
Slc12a5 |
A |
G |
2: 164,834,250 (GRCm39) |
E757G |
probably benign |
Het |
Slc16a14 |
A |
T |
1: 84,890,564 (GRCm39) |
M247K |
probably benign |
Het |
Slc35b2 |
T |
A |
17: 45,878,067 (GRCm39) |
V398E |
probably damaging |
Het |
Slc44a5 |
C |
A |
3: 153,945,934 (GRCm39) |
L156I |
probably benign |
Het |
Trmt11 |
G |
C |
10: 30,423,744 (GRCm39) |
P387R |
probably 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 |
IGL02009:Msantd2
|
APN |
9 |
37,434,686 (GRCm39) |
missense |
possibly damaging |
0.84 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AAGATGGAGGTGCTTTCCCC -3'
(R):5'- AAACTCAGGAAACCTACGGG -3'
Sequencing Primer
(F):5'- GAACCCATCGCTGTCCG -3'
(R):5'- GCCATCTGGAAAGAAGCGCC -3'
|
Posted On |
2014-10-30 |