Incidental Mutation 'IGL02406:Msantd2'
| ID |
292077 |
| 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 # |
IGL02406
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
37400317-37435921 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 37434755 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 332
(V332L)
|
| 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: V533L
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000043329
Gene: ENSMUSG00000042138
AA Change: V533L
| 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: V332L
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
G |
T |
7: 120,139,825 (GRCm39) |
A1496S |
probably damaging |
Het |
| Abra |
A |
T |
15: 41,732,583 (GRCm39) |
V161E |
probably damaging |
Het |
| Adcy4 |
G |
A |
14: 56,007,504 (GRCm39) |
T942I |
possibly damaging |
Het |
| Atrip |
A |
G |
9: 108,894,487 (GRCm39) |
V480A |
probably damaging |
Het |
| Azin1 |
A |
T |
15: 38,491,809 (GRCm39) |
D382E |
probably benign |
Het |
| BC034090 |
G |
T |
1: 155,100,899 (GRCm39) |
A455E |
probably benign |
Het |
| Clstn1 |
A |
G |
4: 149,711,816 (GRCm39) |
Y121C |
probably damaging |
Het |
| Cpq |
T |
A |
15: 33,302,654 (GRCm39) |
N268K |
probably damaging |
Het |
| Cpsf7 |
A |
G |
19: 10,509,352 (GRCm39) |
S88G |
probably damaging |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Cyp2j11 |
G |
A |
4: 96,236,776 (GRCm39) |
A10V |
possibly damaging |
Het |
| Dock4 |
T |
C |
12: 40,827,206 (GRCm39) |
V983A |
probably benign |
Het |
| Dspp |
G |
T |
5: 104,325,232 (GRCm39) |
E532* |
probably null |
Het |
| Ercc4 |
G |
T |
16: 12,941,400 (GRCm39) |
D243Y |
probably damaging |
Het |
| Fars2 |
C |
A |
13: 36,594,145 (GRCm39) |
D383E |
probably benign |
Het |
| Fip1l1 |
A |
G |
5: 74,725,205 (GRCm39) |
T280A |
probably benign |
Het |
| Gcgr |
T |
G |
11: 120,428,010 (GRCm39) |
N292K |
probably damaging |
Het |
| Gtpbp4 |
T |
A |
13: 9,041,786 (GRCm39) |
K85M |
possibly damaging |
Het |
| Jhy |
A |
G |
9: 40,822,285 (GRCm39) |
Y618H |
probably damaging |
Het |
| Mbd4 |
A |
T |
6: 115,825,986 (GRCm39) |
I314N |
possibly damaging |
Het |
| Mbtd1 |
C |
T |
11: 93,799,684 (GRCm39) |
T70M |
probably damaging |
Het |
| Mki67 |
T |
C |
7: 135,300,522 (GRCm39) |
H1504R |
probably benign |
Het |
| Mks1 |
T |
C |
11: 87,753,611 (GRCm39) |
V515A |
probably benign |
Het |
| Myrip |
A |
T |
9: 120,296,598 (GRCm39) |
T836S |
probably benign |
Het |
| Nbea |
T |
C |
3: 55,993,687 (GRCm39) |
I238V |
probably benign |
Het |
| Plekhh1 |
T |
C |
12: 79,115,783 (GRCm39) |
|
probably benign |
Het |
| Prkdc |
A |
G |
16: 15,488,399 (GRCm39) |
N507S |
probably benign |
Het |
| Prss12 |
G |
A |
3: 123,299,123 (GRCm39) |
V632I |
possibly damaging |
Het |
| Puf60 |
A |
G |
15: 75,946,458 (GRCm39) |
S121P |
probably damaging |
Het |
| Raet1e |
G |
A |
10: 22,056,535 (GRCm39) |
C37Y |
probably damaging |
Het |
| Ralgps2 |
G |
T |
1: 156,655,838 (GRCm39) |
A362E |
possibly damaging |
Het |
| Scn1a |
A |
G |
2: 66,156,380 (GRCm39) |
S510P |
possibly damaging |
Het |
| Skap2 |
A |
C |
6: 51,851,453 (GRCm39) |
|
probably null |
Het |
| Slc4a10 |
G |
A |
2: 62,021,113 (GRCm39) |
V54M |
probably benign |
Het |
| Spata17 |
A |
G |
1: 186,849,458 (GRCm39) |
|
probably null |
Het |
| Stoml3 |
T |
A |
3: 53,410,671 (GRCm39) |
N128K |
probably damaging |
Het |
| Tatdn2 |
T |
A |
6: 113,681,174 (GRCm39) |
S402R |
probably benign |
Het |
| Tmprss11f |
A |
G |
5: 86,681,525 (GRCm39) |
W243R |
probably damaging |
Het |
| Vmn2r32 |
A |
G |
7: 7,479,709 (GRCm39) |
Y155H |
probably benign |
Het |
| Vmn2r86 |
T |
A |
10: 130,284,508 (GRCm39) |
T528S |
possibly damaging |
Het |
| Zfhx3 |
C |
T |
8: 109,682,374 (GRCm39) |
A3271V |
unknown |
Het |
| Zkscan3 |
T |
C |
13: 21,572,348 (GRCm39) |
N428S |
possibly damaging |
Het |
| Zxdc |
A |
G |
6: 90,375,818 (GRCm39) |
S765G |
probably benign |
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 |
|
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 |
2015-04-16 |
Incidental Mutation