Incidental Mutation 'R3857:Spty2d1'
ID |
276211 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Spty2d1
|
Ensembl Gene |
ENSMUSG00000049516 |
Gene Name |
SPT2 chromatin protein domain containing 1 |
Synonyms |
5830435K17Rik |
MMRRC Submission |
040785-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.922)
|
Stock # |
R3857 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
46640144-46658159 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 46648044 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 295
(T295I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000059457
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061639]
|
AlphaFold |
Q68FG3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000061639
AA Change: T295I
PolyPhen 2
Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000059457 Gene: ENSMUSG00000049516 AA Change: T295I
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 |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.6%
- 10x: 96.7%
- 20x: 92.4%
|
Validation Efficiency |
98% (41/42) |
Allele List at MGI |
All alleles(1) : Gene trapped(1) |
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Bdkrb2 |
T |
C |
12: 105,558,698 (GRCm39) |
V313A |
probably benign |
Het |
Ccng1 |
A |
G |
11: 40,644,660 (GRCm39) |
L79P |
probably damaging |
Het |
Celf1 |
A |
G |
2: 90,843,086 (GRCm39) |
E411G |
probably damaging |
Het |
Cps1 |
A |
G |
1: 67,207,437 (GRCm39) |
Y582C |
probably damaging |
Het |
Dnah8 |
A |
G |
17: 30,882,396 (GRCm39) |
D656G |
probably damaging |
Het |
Eif1ad17 |
T |
A |
12: 87,979,016 (GRCm39) |
D133E |
unknown |
Het |
Erc2 |
A |
G |
14: 28,197,599 (GRCm39) |
|
probably benign |
Het |
Ercc8 |
A |
G |
13: 108,330,648 (GRCm39) |
E395G |
possibly damaging |
Het |
Ezhip |
A |
G |
X: 5,994,710 (GRCm39) |
S102P |
possibly damaging |
Het |
F13a1 |
A |
G |
13: 37,209,668 (GRCm39) |
L99P |
probably benign |
Het |
Fzd3 |
A |
T |
14: 65,477,288 (GRCm39) |
C89S |
possibly damaging |
Het |
Gse1 |
T |
A |
8: 121,297,872 (GRCm39) |
|
probably benign |
Het |
Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
Hs3st1 |
G |
A |
5: 39,772,256 (GRCm39) |
T129I |
probably damaging |
Het |
Irx1 |
A |
T |
13: 72,111,577 (GRCm39) |
Y11N |
possibly damaging |
Het |
Kdm3b |
T |
A |
18: 34,966,440 (GRCm39) |
I1658N |
probably benign |
Het |
Mtmr4 |
G |
A |
11: 87,488,088 (GRCm39) |
V24M |
probably damaging |
Het |
Nfatc1 |
T |
C |
18: 80,708,490 (GRCm39) |
|
probably benign |
Het |
Obscn |
A |
G |
11: 58,971,795 (GRCm39) |
|
probably benign |
Het |
Pcna |
A |
T |
2: 132,091,541 (GRCm39) |
S261T |
probably benign |
Het |
Pigr |
T |
C |
1: 130,774,998 (GRCm39) |
V475A |
probably benign |
Het |
Pitpnc1 |
T |
C |
11: 107,211,631 (GRCm39) |
|
probably null |
Het |
Psph |
A |
G |
5: 129,848,540 (GRCm39) |
M47T |
probably damaging |
Het |
Pth2r |
A |
T |
1: 65,361,206 (GRCm39) |
I52F |
probably damaging |
Het |
Rtn4rl2 |
A |
G |
2: 84,710,730 (GRCm39) |
|
probably null |
Het |
Senp6 |
A |
G |
9: 79,999,603 (GRCm39) |
T7A |
possibly damaging |
Het |
Slc4a1 |
A |
T |
11: 102,247,947 (GRCm39) |
V349E |
probably benign |
Het |
Spice1 |
T |
C |
16: 44,175,806 (GRCm39) |
S2P |
probably damaging |
Het |
Thsd7a |
C |
T |
6: 12,555,225 (GRCm39) |
G220S |
probably benign |
Het |
Togaram1 |
A |
G |
12: 65,027,633 (GRCm39) |
Q874R |
possibly damaging |
Het |
Ttn |
T |
A |
2: 76,739,319 (GRCm39) |
D3740V |
probably benign |
Het |
Unc13c |
G |
T |
9: 73,606,390 (GRCm39) |
Y1323* |
probably null |
Het |
Vmn1r19 |
A |
T |
6: 57,382,098 (GRCm39) |
Y217F |
possibly damaging |
Het |
Zfp101 |
G |
T |
17: 33,601,405 (GRCm39) |
S79* |
probably null |
Het |
Zfp512 |
G |
T |
5: 31,630,184 (GRCm39) |
R222L |
probably damaging |
Het |
Zfyve16 |
A |
T |
13: 92,631,479 (GRCm39) |
I1372N |
probably damaging |
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 |
|
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GTTGTCTGACACCTGGACTC -3'
(R):5'- ATGGGTACAAAGCCCAGCAG -3'
Sequencing Primer
(F):5'- TGACACCTGGACTCTTAGATTTG -3'
(R):5'- TACAAAGCCCAGCAGAGGTG -3'
|
Posted On |
2015-04-06 |