Incidental Mutation 'IGL00920:Spty2d1'
ID |
27802 |
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 # |
IGL00920
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
46640144-46658159 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 46648735 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glycine
at position 65
(R65G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000059457
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061639]
|
AlphaFold |
Q68FG3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000061639
AA Change: R65G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000059457 Gene: ENSMUSG00000049516 AA Change: R65G
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: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Cd209e |
T |
C |
8: 3,899,187 (GRCm39) |
D175G |
probably damaging |
Het |
Cep78 |
T |
C |
19: 15,958,850 (GRCm39) |
I165V |
probably benign |
Het |
Coa7 |
G |
T |
4: 108,195,505 (GRCm39) |
G145C |
possibly damaging |
Het |
Dpp9 |
T |
C |
17: 56,507,599 (GRCm39) |
T357A |
probably benign |
Het |
Gm42416 |
T |
A |
18: 37,085,820 (GRCm39) |
M1K |
probably null |
Het |
Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
Kcnh5 |
A |
T |
12: 75,023,267 (GRCm39) |
D600E |
probably damaging |
Het |
Msantd5f1 |
T |
A |
4: 73,605,679 (GRCm39) |
|
probably benign |
Het |
Ndst4 |
A |
G |
3: 125,231,860 (GRCm39) |
D143G |
probably damaging |
Het |
Nrros |
A |
G |
16: 31,966,438 (GRCm39) |
F14S |
probably benign |
Het |
Or5g9 |
A |
T |
2: 85,552,583 (GRCm39) |
Y278F |
probably damaging |
Het |
Or8g2b |
T |
C |
9: 39,751,230 (GRCm39) |
F167L |
probably benign |
Het |
Pcdh7 |
A |
T |
5: 57,877,473 (GRCm39) |
I343F |
probably damaging |
Het |
Piwil4 |
C |
T |
9: 14,638,733 (GRCm39) |
R264H |
probably damaging |
Het |
Pnpt1 |
A |
G |
11: 29,107,087 (GRCm39) |
|
probably benign |
Het |
Pycr2 |
T |
A |
1: 180,733,958 (GRCm39) |
|
probably benign |
Het |
Rfx7 |
T |
A |
9: 72,500,638 (GRCm39) |
Y133N |
probably damaging |
Het |
Slc17a3 |
A |
G |
13: 24,040,464 (GRCm39) |
I263V |
probably benign |
Het |
Spink5 |
A |
T |
18: 44,136,276 (GRCm39) |
E562D |
probably damaging |
Het |
Thbs1 |
C |
T |
2: 117,943,682 (GRCm39) |
T100I |
probably damaging |
Het |
Triml1 |
T |
C |
8: 43,591,719 (GRCm39) |
N213S |
probably damaging |
Het |
Trp53bp2 |
T |
C |
1: 182,272,219 (GRCm39) |
|
probably benign |
Het |
Vmn2r9 |
T |
C |
5: 108,995,890 (GRCm39) |
I253V |
possibly damaging |
Het |
Zan |
C |
T |
5: 137,462,786 (GRCm39) |
V798I |
unknown |
Het |
Zfp608 |
C |
T |
18: 55,022,903 (GRCm39) |
M1504I |
probably benign |
Het |
|
Other mutations in Spty2d1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
|
IGL02236:Spty2d1
|
APN |
7 |
46,647,360 (GRCm39) |
missense |
probably benign |
0.02 |
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 |
2013-04-17 |