Incidental Mutation 'IGL01763:Spty2d1'
| ID |
153601 |
| 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: 0.932)
|
| Stock # |
IGL01763
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
46640144-46658159 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 46649596 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 33
(D33G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000059457
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061639]
|
| AlphaFold |
Q68FG3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000061639
AA Change: D33G
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000059457
Gene: ENSMUSG00000049516
AA Change: D33G
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acer3 |
C |
T |
7: 97,915,339 (GRCm39) |
|
probably benign |
Het |
| Atp4a |
A |
G |
7: 30,414,943 (GRCm39) |
E244G |
probably benign |
Het |
| Cdh20 |
T |
C |
1: 109,993,520 (GRCm39) |
I325T |
probably benign |
Het |
| Dennd2c |
T |
C |
3: 103,064,224 (GRCm39) |
L623P |
probably damaging |
Het |
| Eef1akmt3 |
T |
C |
10: 126,876,952 (GRCm39) |
D65G |
probably benign |
Het |
| Gimap3 |
T |
A |
6: 48,742,430 (GRCm39) |
S167C |
probably damaging |
Het |
| Gm12185 |
A |
T |
11: 48,806,671 (GRCm39) |
F173L |
probably benign |
Het |
| Gm5611 |
A |
G |
9: 16,941,699 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr161 |
T |
C |
1: 165,144,820 (GRCm39) |
S387P |
probably benign |
Het |
| Hsd17b8 |
A |
G |
17: 34,245,835 (GRCm39) |
V219A |
probably damaging |
Het |
| Mtfr2 |
G |
A |
10: 20,228,683 (GRCm39) |
|
probably benign |
Het |
| Myh8 |
A |
G |
11: 67,177,245 (GRCm39) |
K437R |
probably benign |
Het |
| Myo15a |
A |
G |
11: 60,412,564 (GRCm39) |
D3335G |
probably benign |
Het |
| Ndufaf7 |
C |
T |
17: 79,253,771 (GRCm39) |
T323I |
possibly damaging |
Het |
| Or5g29 |
A |
G |
2: 85,421,691 (GRCm39) |
N269S |
probably benign |
Het |
| Pcdh15 |
T |
C |
10: 74,046,293 (GRCm39) |
V190A |
probably benign |
Het |
| Pdzd2 |
A |
G |
15: 12,372,632 (GRCm39) |
V2501A |
probably benign |
Het |
| Piwil4 |
A |
T |
9: 14,617,562 (GRCm39) |
|
probably null |
Het |
| Plxnb2 |
C |
T |
15: 89,046,184 (GRCm39) |
|
probably null |
Het |
| Sgcd |
A |
G |
11: 47,085,856 (GRCm39) |
|
probably null |
Het |
| Sin3b |
A |
G |
8: 73,473,236 (GRCm39) |
K519E |
probably damaging |
Het |
| Slc26a4 |
C |
T |
12: 31,578,853 (GRCm39) |
|
probably benign |
Het |
| Txnrd3 |
C |
T |
6: 89,638,537 (GRCm39) |
T242I |
probably damaging |
Het |
| Vps13b |
A |
G |
15: 35,709,945 (GRCm39) |
D1964G |
possibly damaging |
Het |
| Wdr24 |
A |
G |
17: 26,045,164 (GRCm39) |
T300A |
probably benign |
Het |
| Zc2hc1c |
C |
A |
12: 85,336,450 (GRCm39) |
Q36K |
probably benign |
Het |
| Zfp719 |
A |
T |
7: 43,233,613 (GRCm39) |
I11F |
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 |
|
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 |
2014-02-04 |
Incidental Mutation