Incidental Mutation 'IGL02236:Spty2d1'
| ID |
285882 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Spty2d1
|
| Ensembl Gene |
ENSMUSG00000049516 |
| Gene Name |
SPT2 chromatin protein domain containing 1 |
| Synonyms |
5830435K17Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.922)
|
| Stock # |
IGL02236
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
46640144-46658159 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 46647360 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 523
(V523A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000059457
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061639]
|
| AlphaFold |
Q68FG3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000061639
AA Change: V523A
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000059457
Gene: ENSMUSG00000049516
AA Change: V523A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
27 |
39 |
N/A |
INTRINSIC |
|
coiled coil region
|
45 |
82 |
N/A |
INTRINSIC |
|
low complexity region
|
143 |
165 |
N/A |
INTRINSIC |
|
low complexity region
|
199 |
215 |
N/A |
INTRINSIC |
|
low complexity region
|
218 |
231 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
283 |
336 |
4.09e-5 |
PROSPERO |
|
low complexity region
|
338 |
353 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
366 |
420 |
4.09e-5 |
PROSPERO |
|
low complexity region
|
434 |
468 |
N/A |
INTRINSIC |
|
low complexity region
|
490 |
504 |
N/A |
INTRINSIC |
|
low complexity region
|
541 |
552 |
N/A |
INTRINSIC |
|
SPT2
|
573 |
680 |
1.3e-32 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(1) : Gene trapped(1) |
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Baz1b |
T |
C |
5: 135,246,138 (GRCm39) |
L529P |
probably damaging |
Het |
| Bdp1 |
A |
T |
13: 100,197,399 (GRCm39) |
D995E |
probably benign |
Het |
| Cd22 |
T |
C |
7: 30,566,893 (GRCm39) |
N607S |
possibly damaging |
Het |
| Ddx10 |
T |
A |
9: 53,146,682 (GRCm39) |
D180V |
probably damaging |
Het |
| Dennd4c |
T |
C |
4: 86,725,672 (GRCm39) |
Y709H |
possibly damaging |
Het |
| Dhrs3 |
A |
C |
4: 144,620,133 (GRCm39) |
I17L |
probably benign |
Het |
| Dnah8 |
A |
T |
17: 30,868,747 (GRCm39) |
K394* |
probably null |
Het |
| Flnc |
T |
A |
6: 29,454,375 (GRCm39) |
I1896N |
probably damaging |
Het |
| Glipr1l2 |
A |
G |
10: 111,928,534 (GRCm39) |
Y143C |
probably damaging |
Het |
| Lmo7 |
T |
C |
14: 102,163,524 (GRCm39) |
|
probably benign |
Het |
| Lpp |
C |
T |
16: 24,580,895 (GRCm39) |
R204W |
probably damaging |
Het |
| Mast3 |
A |
G |
8: 71,241,888 (GRCm39) |
S98P |
probably benign |
Het |
| Myf5 |
A |
G |
10: 107,320,051 (GRCm39) |
S200P |
possibly damaging |
Het |
| Or52r1b |
T |
G |
7: 102,690,928 (GRCm39) |
S76A |
possibly damaging |
Het |
| Pramel12 |
G |
A |
4: 143,143,512 (GRCm39) |
V93I |
probably benign |
Het |
| Recql5 |
A |
C |
11: 115,784,856 (GRCm39) |
S824A |
probably benign |
Het |
| Reg2 |
A |
G |
6: 78,383,188 (GRCm39) |
E45G |
probably damaging |
Het |
| Rergl |
T |
C |
6: 139,471,918 (GRCm39) |
D77G |
probably benign |
Het |
| Rnf224 |
T |
C |
2: 25,126,260 (GRCm39) |
D31G |
probably damaging |
Het |
| Sema4c |
C |
T |
1: 36,592,166 (GRCm39) |
S227N |
probably damaging |
Het |
| Sgsm2 |
C |
T |
11: 74,750,698 (GRCm39) |
G439D |
probably damaging |
Het |
| Smap2 |
T |
A |
4: 120,832,587 (GRCm39) |
M185L |
probably benign |
Het |
| Stk17b |
C |
A |
1: 53,803,247 (GRCm39) |
R184L |
probably damaging |
Het |
| Syt13 |
A |
G |
2: 92,771,210 (GRCm39) |
D99G |
probably damaging |
Het |
| Trav14-1 |
T |
A |
14: 53,791,763 (GRCm39) |
S38T |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,700,812 (GRCm39) |
|
probably benign |
Het |
| Usp17la |
G |
A |
7: 104,510,353 (GRCm39) |
W319* |
probably null |
Het |
| Vmn2r73 |
T |
C |
7: 85,521,902 (GRCm39) |
T146A |
probably benign |
Het |
| Vwa3b |
C |
T |
1: 37,193,132 (GRCm39) |
|
probably benign |
Het |
| Zfp13 |
A |
T |
17: 23,799,739 (GRCm39) |
|
probably benign |
Het |
| Zscan18 |
A |
C |
7: 12,503,251 (GRCm39) |
D769E |
probably benign |
Het |
|
| Other mutations in Spty2d1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00920:Spty2d1
|
APN |
7 |
46,648,735 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01763:Spty2d1
|
APN |
7 |
46,649,596 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01988:Spty2d1
|
APN |
7 |
46,647,358 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02149:Spty2d1
|
APN |
7 |
46,657,892 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL02273:Spty2d1
|
APN |
7 |
46,647,321 (GRCm39) |
missense |
probably damaging |
0.97 |
|
3-1:Spty2d1
|
UTSW |
7 |
46,648,425 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0184:Spty2d1
|
UTSW |
7 |
46,647,322 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0201:Spty2d1
|
UTSW |
7 |
46,647,649 (GRCm39) |
nonsense |
probably null |
|
|
R1592:Spty2d1
|
UTSW |
7 |
46,648,637 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R2116:Spty2d1
|
UTSW |
7 |
46,645,933 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2171:Spty2d1
|
UTSW |
7 |
46,644,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2898:Spty2d1
|
UTSW |
7 |
46,643,100 (GRCm39) |
missense |
unknown |
|
|
R3857:Spty2d1
|
UTSW |
7 |
46,648,044 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4080:Spty2d1
|
UTSW |
7 |
46,648,329 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4319:Spty2d1
|
UTSW |
7 |
46,647,883 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4732:Spty2d1
|
UTSW |
7 |
46,645,858 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4733:Spty2d1
|
UTSW |
7 |
46,645,858 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5317:Spty2d1
|
UTSW |
7 |
46,648,049 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R5485:Spty2d1
|
UTSW |
7 |
46,647,633 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R5711:Spty2d1
|
UTSW |
7 |
46,647,845 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R5761:Spty2d1
|
UTSW |
7 |
46,648,032 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6418:Spty2d1
|
UTSW |
7 |
46,647,751 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7182:Spty2d1
|
UTSW |
7 |
46,648,271 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7372:Spty2d1
|
UTSW |
7 |
46,648,692 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7798:Spty2d1
|
UTSW |
7 |
46,645,804 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8229:Spty2d1
|
UTSW |
7 |
46,647,522 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8670:Spty2d1
|
UTSW |
7 |
46,647,519 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9314:Spty2d1
|
UTSW |
7 |
46,648,486 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation