Incidental Mutation 'R2982:Msantd2'
| ID |
257103 |
| Institutional Source |
Beutler Lab
|
| 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: 0.206)
|
| Stock # |
R2982 (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 37434639 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 293
(Q293R)
|
| 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 damaging
Transcript: ENSMUST00000048604
AA Change: Q494R
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000043329
Gene: ENSMUSG00000042138
AA Change: Q494R
| 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: Q293R
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211792
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213411
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214298
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 18 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cd200r3 |
T |
A |
16: 44,774,552 (GRCm39) |
D188E |
probably benign |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Fgfr1 |
T |
C |
8: 26,048,227 (GRCm39) |
F106L |
probably benign |
Het |
| Hpse2 |
T |
A |
19: 43,373,182 (GRCm39) |
D149V |
probably null |
Het |
| Hsd3b5 |
T |
A |
3: 98,527,116 (GRCm39) |
D110V |
possibly damaging |
Het |
| Klhl42 |
T |
C |
6: 146,993,114 (GRCm39) |
Y29H |
probably damaging |
Het |
| Klk1 |
G |
A |
7: 43,878,863 (GRCm39) |
C117Y |
probably damaging |
Het |
| Mfhas1 |
T |
C |
8: 36,058,269 (GRCm39) |
Y915H |
probably benign |
Het |
| Or1l4b |
G |
T |
2: 37,036,393 (GRCm39) |
M56I |
probably damaging |
Het |
| Or7a36 |
T |
C |
10: 78,820,274 (GRCm39) |
S217P |
probably damaging |
Het |
| Or9g20 |
T |
A |
2: 85,629,694 (GRCm39) |
I307F |
probably benign |
Het |
| Osgin1 |
T |
G |
8: 120,169,274 (GRCm39) |
L35R |
probably damaging |
Het |
| Rufy1 |
C |
T |
11: 50,310,535 (GRCm39) |
R210K |
possibly damaging |
Het |
| Spats2 |
T |
C |
15: 99,108,927 (GRCm39) |
S426P |
probably benign |
Het |
| Tnc |
T |
A |
4: 63,938,756 (GRCm39) |
I28F |
possibly damaging |
Het |
| Ttc23l |
CT |
CTTGGATT |
15: 10,537,648 (GRCm39) |
|
probably benign |
Het |
| Ttc23l |
G |
A |
15: 10,537,652 (GRCm39) |
S206L |
probably benign |
Het |
| Zfp512 |
C |
A |
5: 31,634,122 (GRCm39) |
|
probably null |
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 |
|
R2293:Msantd2
|
UTSW |
9 |
37,401,100 (GRCm39) |
missense |
probably damaging |
0.96 |
|
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'- AAAAGCCCAGGCCTTTATGC -3'
(R):5'- TGCACAAGCCCAAATCCTTATG -3'
Sequencing Primer
(F):5'- GCCATTGGCTATGAAGAATGTATCG -3'
(R):5'- AAGGGGTATCCAATGGCTTTTTCC -3'
|
| Posted On |
2015-01-11 |
Incidental Mutation