Incidental Mutation 'R4319:Spty2d1'
ID |
324132 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Spty2d1
|
Ensembl Gene |
ENSMUSG00000049516 |
Gene Name |
SPT2 chromatin protein domain containing 1 |
Synonyms |
5830435K17Rik |
MMRRC Submission |
041660-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.932)
|
Stock # |
R4319 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
46640144-46658159 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 46647883 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Glycine
at position 349
(S349G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000059457
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061639]
|
AlphaFold |
Q68FG3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000061639
AA Change: S349G
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000059457 Gene: ENSMUSG00000049516 AA Change: S349G
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 |
0.0643 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
Validation Efficiency |
94% (31/33) |
Allele List at MGI |
All alleles(1) : Gene trapped(1) |
Other mutations in this stock |
Total: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atxn7l2 |
A |
T |
3: 108,113,148 (GRCm39) |
D218E |
probably damaging |
Het |
Bahd1 |
C |
T |
2: 118,746,887 (GRCm39) |
P169S |
probably damaging |
Het |
Cacna1c |
A |
C |
6: 118,631,330 (GRCm39) |
I1148S |
probably damaging |
Het |
Ccdc178 |
T |
A |
18: 22,166,600 (GRCm39) |
K530* |
probably null |
Het |
Ccdc191 |
A |
G |
16: 43,767,872 (GRCm39) |
E624G |
probably damaging |
Het |
Cep290 |
A |
C |
10: 100,374,909 (GRCm39) |
H1385P |
probably benign |
Het |
Chrd |
A |
G |
16: 20,555,798 (GRCm39) |
H545R |
probably damaging |
Het |
Dgkb |
A |
G |
12: 38,488,598 (GRCm39) |
I655V |
probably damaging |
Het |
Gm2663 |
G |
T |
6: 40,974,530 (GRCm39) |
Q87K |
probably damaging |
Het |
Itsn1 |
G |
A |
16: 91,615,440 (GRCm39) |
|
probably benign |
Het |
Kif11 |
T |
C |
19: 37,373,033 (GRCm39) |
V84A |
probably damaging |
Het |
Klf2 |
A |
G |
8: 73,074,005 (GRCm39) |
T270A |
probably benign |
Het |
Lemd2 |
A |
G |
17: 27,420,651 (GRCm39) |
M254T |
possibly damaging |
Het |
Luc7l |
A |
T |
17: 26,496,593 (GRCm39) |
|
probably benign |
Het |
Mapk11 |
T |
C |
15: 89,030,946 (GRCm39) |
E71G |
probably damaging |
Het |
Mcoln2 |
G |
A |
3: 145,855,766 (GRCm39) |
|
probably null |
Het |
Or2y1f |
G |
A |
11: 49,184,503 (GRCm39) |
M118I |
probably damaging |
Het |
Pira13 |
A |
G |
7: 3,825,754 (GRCm39) |
S372P |
possibly damaging |
Het |
Pygb |
G |
T |
2: 150,657,534 (GRCm39) |
|
probably benign |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Sox6 |
A |
G |
7: 115,179,798 (GRCm39) |
|
probably null |
Het |
Srbd1 |
A |
T |
17: 86,358,578 (GRCm39) |
V657D |
probably damaging |
Het |
Tspo2 |
G |
T |
17: 48,756,871 (GRCm39) |
|
probably benign |
Het |
Ufsp2 |
A |
G |
8: 46,448,664 (GRCm39) |
T422A |
possibly damaging |
Het |
Vmn2r63 |
A |
G |
7: 42,576,406 (GRCm39) |
F469S |
probably benign |
Het |
Wdr46 |
A |
G |
17: 34,159,718 (GRCm39) |
T3A |
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 |
|
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 |
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'- AGAGATGTGAATTGCTGGCC -3'
(R):5'- AAGCAGCTTTGTCTTCACCC -3'
Sequencing Primer
(F):5'- GCTGACTGCTCAGGTCCTG -3'
(R):5'- AAATCCCTGCCAGGCGAGAG -3'
|
Posted On |
2015-06-24 |