Incidental Mutation 'R1135:Msantd2'
| ID |
94927 |
| 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 |
039208-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.152)
|
| Stock # |
R1135 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
37400317-37435921 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 37434008 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 83
(I83V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148195
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048604]
[ENSMUST00000211060]
[ENSMUST00000214298]
|
| AlphaFold |
Q6NZR2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048604
AA Change: I284V
PolyPhen 2
Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000043329
Gene: ENSMUSG00000042138
AA Change: I284V
| 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: ENSMUST00000211060
AA Change: I83V
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211792
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213411
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000214298
AA Change: I140V
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2510039O18Rik |
G |
T |
4: 148,029,115 (GRCm39) |
V362L |
probably benign |
Het |
| Ak5 |
T |
A |
3: 152,359,299 (GRCm39) |
L166F |
probably damaging |
Het |
| Camk2a |
T |
A |
18: 61,090,468 (GRCm39) |
|
probably null |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Cr2 |
A |
T |
1: 194,839,498 (GRCm39) |
I643N |
probably damaging |
Het |
| Fibin |
G |
A |
2: 110,192,567 (GRCm39) |
H192Y |
probably benign |
Het |
| Ints11 |
T |
C |
4: 155,972,384 (GRCm39) |
|
probably null |
Het |
| Lct |
A |
G |
1: 128,221,861 (GRCm39) |
|
probably null |
Het |
| Myh10 |
A |
T |
11: 68,698,023 (GRCm39) |
M1622L |
probably benign |
Het |
| Nkx2-4 |
G |
T |
2: 146,926,328 (GRCm39) |
S178* |
probably null |
Het |
| Nox4 |
C |
T |
7: 86,972,997 (GRCm39) |
P335S |
probably damaging |
Het |
| Rab3gap2 |
G |
A |
1: 185,008,140 (GRCm39) |
R1085Q |
possibly damaging |
Het |
| Skint10 |
C |
T |
4: 112,568,660 (GRCm39) |
W352* |
probably null |
Het |
| Srsf4 |
T |
G |
4: 131,627,380 (GRCm39) |
|
probably benign |
Het |
| Sytl1 |
C |
T |
4: 132,984,281 (GRCm39) |
G274D |
probably damaging |
Het |
| Tbck |
T |
A |
3: 132,437,952 (GRCm39) |
I459N |
probably damaging |
Het |
| Trhr2 |
A |
G |
8: 123,085,372 (GRCm39) |
L204P |
probably damaging |
Het |
| Vps13d |
T |
C |
4: 144,882,159 (GRCm39) |
T1145A |
probably benign |
Het |
| Wnk2 |
G |
A |
13: 49,230,034 (GRCm39) |
P830L |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCAGCACCGGCATTTCATGTTAAAG -3'
(R):5'- CATAATGATCCGTCCCTCAGGCTTC -3'
Sequencing Primer
(F):5'- tggagaggcagaggcag -3'
(R):5'- GGCTTCTCAGAGTTGAAATACTCG -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation