Incidental Mutation 'R1752:Setd2'
| ID |
193630 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Setd2
|
| Ensembl Gene |
ENSMUSG00000044791 |
| Gene Name |
SET domain containing 2 |
| Synonyms |
KMT3A, 4921524K10Rik |
| MMRRC Submission |
039784-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.948)
|
| Stock # |
R1752 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
110361665-110447701 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 110423673 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 2243
(Y2243N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116313
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000153838]
|
| AlphaFold |
E9Q5F9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000153838
AA Change: Y2243N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000116313
Gene: ENSMUSG00000044791
AA Change: Y2243N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
34 |
N/A |
INTRINSIC |
|
low complexity region
|
156 |
176 |
N/A |
INTRINSIC |
|
low complexity region
|
185 |
207 |
N/A |
INTRINSIC |
|
low complexity region
|
297 |
313 |
N/A |
INTRINSIC |
|
low complexity region
|
392 |
419 |
N/A |
INTRINSIC |
|
low complexity region
|
795 |
809 |
N/A |
INTRINSIC |
|
low complexity region
|
867 |
883 |
N/A |
INTRINSIC |
|
low complexity region
|
1015 |
1039 |
N/A |
INTRINSIC |
|
low complexity region
|
1066 |
1077 |
N/A |
INTRINSIC |
|
low complexity region
|
1384 |
1395 |
N/A |
INTRINSIC |
|
AWS
|
1468 |
1523 |
8.39e-30 |
SMART |
|
SET
|
1524 |
1647 |
3.07e-41 |
SMART |
|
PostSET
|
1648 |
1664 |
1.27e-5 |
SMART |
|
Blast:SET
|
1689 |
1714 |
2e-6 |
BLAST |
|
low complexity region
|
1884 |
1909 |
N/A |
INTRINSIC |
|
low complexity region
|
1956 |
1967 |
N/A |
INTRINSIC |
|
coiled coil region
|
2090 |
2113 |
N/A |
INTRINSIC |
|
low complexity region
|
2189 |
2211 |
N/A |
INTRINSIC |
|
low complexity region
|
2248 |
2265 |
N/A |
INTRINSIC |
|
WW
|
2363 |
2395 |
2.1e-11 |
SMART |
|
Pfam:SRI
|
2440 |
2530 |
6e-30 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000196814
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197655
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198697
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000200460
AA Change: Y465N
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 95.2%
- 20x: 92.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Huntington's disease (HD), a neurodegenerative disorder characterized by loss of striatal neurons, is caused by an expansion of a polyglutamine tract in the HD protein huntingtin. This gene encodes a protein belonging to a class of huntingtin interacting proteins characterized by WW motifs. This protein is a histone methyltransferase that is specific for lysine-36 of histone H3, and methylation of this residue is associated with active chromatin. This protein also contains a novel transcriptional activation domain and has been found associated with hyperphosphorylated RNA polymerase II. [provided by RefSeq, Aug 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired embryonic vascular remodeling in the embryo proper, yolk sac, and placenta that leads to death around E10.5. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 90 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
T |
C |
10: 79,842,468 (GRCm39) |
V1134A |
probably benign |
Het |
| Accsl |
C |
T |
2: 93,688,375 (GRCm39) |
G420S |
probably damaging |
Het |
| Adam29 |
A |
G |
8: 56,325,309 (GRCm39) |
S382P |
probably damaging |
Het |
| Apob |
T |
C |
12: 8,038,766 (GRCm39) |
L393P |
probably benign |
Het |
| Arhgef19 |
T |
G |
4: 140,978,354 (GRCm39) |
S616A |
probably benign |
Het |
| Atp11a |
C |
T |
8: 12,863,094 (GRCm39) |
T91I |
probably damaging |
Het |
| Ccdc88b |
C |
T |
19: 6,830,690 (GRCm39) |
V751I |
probably benign |
Het |
| Ccni |
T |
C |
5: 93,350,315 (GRCm39) |
|
probably benign |
Het |
| Cd2 |
G |
A |
3: 101,183,511 (GRCm39) |
A266V |
probably benign |
Het |
| Cd33 |
T |
C |
7: 43,181,722 (GRCm39) |
D146G |
probably benign |
Het |
| Cdh16 |
A |
G |
8: 105,346,505 (GRCm39) |
|
probably null |
Het |
| Chd1 |
T |
C |
17: 15,963,494 (GRCm39) |
|
probably null |
Het |
| Chd5 |
A |
T |
4: 152,459,590 (GRCm39) |
I1109F |
probably damaging |
Het |
| Cir1 |
T |
C |
2: 73,140,882 (GRCm39) |
E29G |
probably damaging |
Het |
| Clec5a |
T |
C |
6: 40,559,187 (GRCm39) |
T66A |
probably damaging |
Het |
| Cpa2 |
A |
G |
6: 30,552,023 (GRCm39) |
D250G |
probably damaging |
Het |
| Crybg2 |
T |
A |
4: 133,800,961 (GRCm39) |
L707H |
probably damaging |
Het |
| Csmd3 |
T |
C |
15: 47,523,669 (GRCm39) |
T2646A |
probably benign |
Het |
| Cul7 |
G |
A |
17: 46,964,093 (GRCm39) |
R390Q |
probably benign |
Het |
| Cyp2c69 |
T |
A |
19: 39,869,597 (GRCm39) |
I141F |
probably damaging |
Het |
| Dapk2 |
C |
G |
9: 66,127,925 (GRCm39) |
R68G |
probably damaging |
Het |
| Dclk2 |
C |
T |
3: 86,713,434 (GRCm39) |
V470I |
possibly damaging |
Het |
| Dixdc1 |
A |
G |
9: 50,593,850 (GRCm39) |
V530A |
probably benign |
Het |
| Dock7 |
A |
G |
4: 98,854,681 (GRCm39) |
F1528L |
probably damaging |
Het |
| Edn1 |
T |
A |
13: 42,457,075 (GRCm39) |
V36E |
possibly damaging |
Het |
| Eng |
T |
C |
2: 32,563,404 (GRCm39) |
V319A |
probably benign |
Het |
| Epb41l2 |
A |
G |
10: 25,336,690 (GRCm39) |
K229E |
probably damaging |
Het |
| Fam184a |
T |
C |
10: 53,550,666 (GRCm39) |
N698S |
probably benign |
Het |
| Fndc7 |
T |
C |
3: 108,776,646 (GRCm39) |
N465S |
probably benign |
Het |
| Fstl4 |
T |
C |
11: 53,077,622 (GRCm39) |
V793A |
probably benign |
Het |
| Gm9797 |
A |
T |
10: 11,485,287 (GRCm39) |
|
noncoding transcript |
Het |
| Hsd17b4 |
T |
C |
18: 50,303,834 (GRCm39) |
S436P |
probably benign |
Het |
| Itsn2 |
T |
G |
12: 4,761,950 (GRCm39) |
|
probably null |
Het |
| Kank3 |
T |
C |
17: 34,038,791 (GRCm39) |
V570A |
probably damaging |
Het |
| Kif13a |
A |
T |
13: 46,951,885 (GRCm39) |
F733Y |
probably damaging |
Het |
| Kif16b |
G |
T |
2: 142,532,586 (GRCm39) |
D1184E |
probably benign |
Het |
| Kif20a |
A |
G |
18: 34,764,634 (GRCm39) |
D727G |
possibly damaging |
Het |
| Kif20b |
T |
A |
19: 34,915,736 (GRCm39) |
S504R |
probably benign |
Het |
| Lrrc37 |
T |
C |
11: 103,505,381 (GRCm39) |
T2196A |
possibly damaging |
Het |
| Ltbp3 |
C |
A |
19: 5,795,685 (GRCm39) |
H180Q |
probably benign |
Het |
| Luzp2 |
T |
C |
7: 54,914,088 (GRCm39) |
S306P |
possibly damaging |
Het |
| Macf1 |
T |
C |
4: 123,377,465 (GRCm39) |
I1490V |
possibly damaging |
Het |
| Manba |
T |
A |
3: 135,212,706 (GRCm39) |
W72R |
probably damaging |
Het |
| Mast1 |
A |
G |
8: 85,651,965 (GRCm39) |
V339A |
probably benign |
Het |
| Mnx1 |
A |
G |
5: 29,682,727 (GRCm39) |
S183P |
unknown |
Het |
| Muc5b |
T |
G |
7: 141,421,488 (GRCm39) |
L4326R |
possibly damaging |
Het |
| Myb |
T |
C |
10: 21,032,336 (GRCm39) |
D15G |
possibly damaging |
Het |
| Ncapg2 |
A |
T |
12: 116,390,338 (GRCm39) |
D429V |
probably damaging |
Het |
| Neurod6 |
A |
G |
6: 55,656,511 (GRCm39) |
V42A |
probably benign |
Het |
| Nfxl1 |
A |
T |
5: 72,698,218 (GRCm39) |
C276S |
probably damaging |
Het |
| Nptx2 |
C |
A |
5: 144,492,171 (GRCm39) |
T316N |
probably damaging |
Het |
| Nrp2 |
T |
A |
1: 62,777,600 (GRCm39) |
F135Y |
probably damaging |
Het |
| Nxpe3 |
A |
T |
16: 55,686,837 (GRCm39) |
F57Y |
probably benign |
Het |
| Or4c109 |
C |
A |
2: 88,817,659 (GRCm39) |
A296S |
possibly damaging |
Het |
| Or51ag1 |
T |
A |
7: 103,155,765 (GRCm39) |
R129S |
probably benign |
Het |
| Osbpl11 |
T |
C |
16: 33,025,205 (GRCm39) |
Y144H |
probably damaging |
Het |
| Pax5 |
T |
C |
4: 44,609,729 (GRCm39) |
Y233C |
probably damaging |
Het |
| Pck1 |
A |
G |
2: 172,998,906 (GRCm39) |
N388S |
probably benign |
Het |
| Plcd3 |
T |
A |
11: 102,971,085 (GRCm39) |
Q157L |
probably benign |
Het |
| Pnma2 |
A |
C |
14: 67,153,785 (GRCm39) |
M70L |
probably benign |
Het |
| Pogk |
T |
C |
1: 166,235,997 (GRCm39) |
K35E |
probably damaging |
Het |
| Ptprb |
T |
A |
10: 116,176,895 (GRCm39) |
V1227E |
probably benign |
Het |
| Pygm |
T |
A |
19: 6,441,064 (GRCm39) |
V450E |
probably damaging |
Het |
| Rb1 |
T |
A |
14: 73,525,064 (GRCm39) |
I190F |
probably damaging |
Het |
| Slc11a2 |
A |
T |
15: 100,303,687 (GRCm39) |
L182Q |
probably damaging |
Het |
| Slc45a3 |
T |
C |
1: 131,905,259 (GRCm39) |
L94P |
probably damaging |
Het |
| Slc9a4 |
T |
C |
1: 40,668,421 (GRCm39) |
F688S |
probably benign |
Het |
| Slit3 |
A |
T |
11: 35,455,480 (GRCm39) |
I196F |
probably damaging |
Het |
| Sprn |
G |
A |
7: 139,733,408 (GRCm39) |
|
probably benign |
Het |
| Spsb2 |
A |
G |
6: 124,787,292 (GRCm39) |
D242G |
probably benign |
Het |
| Srpk2 |
A |
G |
5: 23,733,017 (GRCm39) |
I111T |
probably damaging |
Het |
| St8sia4 |
T |
A |
1: 95,519,537 (GRCm39) |
Y317F |
probably benign |
Het |
| Stat5a |
T |
A |
11: 100,774,884 (GRCm39) |
*798K |
probably null |
Het |
| Sult1c2 |
C |
T |
17: 54,271,777 (GRCm39) |
V137M |
possibly damaging |
Het |
| Synj1 |
T |
C |
16: 90,735,361 (GRCm39) |
T1531A |
probably benign |
Het |
| Tasor |
T |
A |
14: 27,193,885 (GRCm39) |
Y1028* |
probably null |
Het |
| Tax1bp1 |
A |
G |
6: 52,698,398 (GRCm39) |
T37A |
probably damaging |
Het |
| Tet1 |
T |
A |
10: 62,648,768 (GRCm39) |
D1888V |
probably damaging |
Het |
| Tln1 |
T |
C |
4: 43,536,311 (GRCm39) |
T1994A |
probably damaging |
Het |
| Tmco3 |
A |
C |
8: 13,341,741 (GRCm39) |
D5A |
probably benign |
Het |
| Tnk1 |
T |
A |
11: 69,747,532 (GRCm39) |
N74I |
possibly damaging |
Het |
| Ttc16 |
A |
T |
2: 32,662,162 (GRCm39) |
S120T |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,774,448 (GRCm39) |
T2153S |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,594,606 (GRCm39) |
V20480A |
probably damaging |
Het |
| Usp4 |
T |
C |
9: 108,251,441 (GRCm39) |
Y539H |
probably damaging |
Het |
| Zar1 |
A |
C |
5: 72,734,715 (GRCm39) |
V168G |
probably damaging |
Het |
| Zcchc9 |
T |
C |
13: 91,953,899 (GRCm39) |
K119E |
possibly damaging |
Het |
| Zfp251 |
T |
C |
15: 76,737,863 (GRCm39) |
N410S |
possibly damaging |
Het |
| Zfp605 |
A |
T |
5: 110,271,639 (GRCm39) |
D10V |
probably damaging |
Het |
| Zyg11a |
A |
T |
4: 108,062,479 (GRCm39) |
N107K |
possibly damaging |
Het |
|
| Other mutations in Setd2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00722:Setd2
|
APN |
9 |
110,380,204 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL01023:Setd2
|
APN |
9 |
110,376,581 (GRCm39) |
nonsense |
probably null |
|
|
IGL01063:Setd2
|
APN |
9 |
110,402,741 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01745:Setd2
|
APN |
9 |
110,423,779 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01911:Setd2
|
APN |
9 |
110,446,499 (GRCm39) |
splice site |
probably null |
|
|
IGL01955:Setd2
|
APN |
9 |
110,378,386 (GRCm39) |
missense |
probably benign |
0.38 |
|
IGL02023:Setd2
|
APN |
9 |
110,423,704 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02080:Setd2
|
APN |
9 |
110,376,518 (GRCm39) |
splice site |
probably null |
|
|
IGL02412:Setd2
|
APN |
9 |
110,379,842 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02519:Setd2
|
APN |
9 |
110,382,184 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02631:Setd2
|
APN |
9 |
110,379,644 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL02754:Setd2
|
APN |
9 |
110,379,124 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
IGL02828:Setd2
|
APN |
9 |
110,390,282 (GRCm39) |
missense |
probably benign |
0.31 |
|
IGL03033:Setd2
|
APN |
9 |
110,380,343 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
IGL03140:Setd2
|
APN |
9 |
110,444,020 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03378:Setd2
|
APN |
9 |
110,382,220 (GRCm39) |
missense |
unknown |
|
|
American_samoa
|
UTSW |
9 |
110,396,826 (GRCm39) |
nonsense |
probably null |
|
|
slingshot
|
UTSW |
9 |
110,378,575 (GRCm39) |
missense |
probably benign |
0.00 |
|
P0028:Setd2
|
UTSW |
9 |
110,403,022 (GRCm39) |
missense |
probably benign |
0.00 |
|
PIT4544001:Setd2
|
UTSW |
9 |
110,380,232 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0058:Setd2
|
UTSW |
9 |
110,423,494 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0058:Setd2
|
UTSW |
9 |
110,423,494 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0167:Setd2
|
UTSW |
9 |
110,402,850 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0408:Setd2
|
UTSW |
9 |
110,423,310 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0452:Setd2
|
UTSW |
9 |
110,382,168 (GRCm39) |
splice site |
probably null |
|
|
R0541:Setd2
|
UTSW |
9 |
110,402,741 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0947:Setd2
|
UTSW |
9 |
110,377,579 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1249:Setd2
|
UTSW |
9 |
110,402,948 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1294:Setd2
|
UTSW |
9 |
110,378,575 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1518:Setd2
|
UTSW |
9 |
110,431,306 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1585:Setd2
|
UTSW |
9 |
110,380,464 (GRCm39) |
missense |
unknown |
|
|
R1647:Setd2
|
UTSW |
9 |
110,378,932 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1649:Setd2
|
UTSW |
9 |
110,378,932 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1651:Setd2
|
UTSW |
9 |
110,378,932 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1652:Setd2
|
UTSW |
9 |
110,378,932 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1673:Setd2
|
UTSW |
9 |
110,433,248 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1703:Setd2
|
UTSW |
9 |
110,378,932 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1706:Setd2
|
UTSW |
9 |
110,378,932 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1709:Setd2
|
UTSW |
9 |
110,378,925 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1796:Setd2
|
UTSW |
9 |
110,446,884 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1796:Setd2
|
UTSW |
9 |
110,379,413 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1812:Setd2
|
UTSW |
9 |
110,379,170 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1884:Setd2
|
UTSW |
9 |
110,385,486 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2024:Setd2
|
UTSW |
9 |
110,378,201 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R2051:Setd2
|
UTSW |
9 |
110,379,958 (GRCm39) |
missense |
probably benign |
|
|
R2117:Setd2
|
UTSW |
9 |
110,433,212 (GRCm39) |
frame shift |
probably null |
|
|
R2120:Setd2
|
UTSW |
9 |
110,378,932 (GRCm39) |
missense |
probably benign |
0.12 |
|
R2124:Setd2
|
UTSW |
9 |
110,378,932 (GRCm39) |
missense |
probably benign |
0.12 |
|
R2172:Setd2
|
UTSW |
9 |
110,378,912 (GRCm39) |
missense |
probably benign |
0.10 |
|
R2179:Setd2
|
UTSW |
9 |
110,423,756 (GRCm39) |
nonsense |
probably null |
|
|
R2262:Setd2
|
UTSW |
9 |
110,390,311 (GRCm39) |
intron |
probably benign |
|
|
R2411:Setd2
|
UTSW |
9 |
110,379,497 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R2413:Setd2
|
UTSW |
9 |
110,376,572 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2419:Setd2
|
UTSW |
9 |
110,378,065 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R2424:Setd2
|
UTSW |
9 |
110,446,590 (GRCm39) |
missense |
probably benign |
0.37 |
|
R3757:Setd2
|
UTSW |
9 |
110,402,753 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3765:Setd2
|
UTSW |
9 |
110,423,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3796:Setd2
|
UTSW |
9 |
110,378,639 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3797:Setd2
|
UTSW |
9 |
110,378,639 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3799:Setd2
|
UTSW |
9 |
110,378,639 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3899:Setd2
|
UTSW |
9 |
110,421,586 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3900:Setd2
|
UTSW |
9 |
110,421,586 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3913:Setd2
|
UTSW |
9 |
110,380,114 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4010:Setd2
|
UTSW |
9 |
110,428,263 (GRCm39) |
missense |
probably null |
1.00 |
|
R4580:Setd2
|
UTSW |
9 |
110,403,311 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4614:Setd2
|
UTSW |
9 |
110,398,881 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4651:Setd2
|
UTSW |
9 |
110,423,200 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R4652:Setd2
|
UTSW |
9 |
110,423,200 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R4855:Setd2
|
UTSW |
9 |
110,401,022 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4970:Setd2
|
UTSW |
9 |
110,377,226 (GRCm39) |
missense |
probably benign |
0.28 |
|
R5112:Setd2
|
UTSW |
9 |
110,377,226 (GRCm39) |
missense |
probably benign |
0.28 |
|
R5123:Setd2
|
UTSW |
9 |
110,446,595 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R5140:Setd2
|
UTSW |
9 |
110,380,197 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5202:Setd2
|
UTSW |
9 |
110,380,298 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5290:Setd2
|
UTSW |
9 |
110,446,899 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5560:Setd2
|
UTSW |
9 |
110,378,907 (GRCm39) |
nonsense |
probably null |
|
|
R5604:Setd2
|
UTSW |
9 |
110,433,284 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5678:Setd2
|
UTSW |
9 |
110,431,254 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5708:Setd2
|
UTSW |
9 |
110,377,891 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R5763:Setd2
|
UTSW |
9 |
110,385,343 (GRCm39) |
splice site |
probably null |
|
|
R5814:Setd2
|
UTSW |
9 |
110,396,826 (GRCm39) |
nonsense |
probably null |
|
|
R5924:Setd2
|
UTSW |
9 |
110,403,112 (GRCm39) |
missense |
probably benign |
0.23 |
|
R6244:Setd2
|
UTSW |
9 |
110,377,733 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6313:Setd2
|
UTSW |
9 |
110,385,434 (GRCm39) |
missense |
unknown |
|
|
R6431:Setd2
|
UTSW |
9 |
110,379,453 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R6526:Setd2
|
UTSW |
9 |
110,361,785 (GRCm39) |
missense |
probably benign |
0.33 |
|
R6579:Setd2
|
UTSW |
9 |
110,378,846 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R6996:Setd2
|
UTSW |
9 |
110,379,640 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7012:Setd2
|
UTSW |
9 |
110,376,751 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7105:Setd2
|
UTSW |
9 |
110,377,328 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7134:Setd2
|
UTSW |
9 |
110,377,865 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7222:Setd2
|
UTSW |
9 |
110,380,530 (GRCm39) |
missense |
|
|
|
R7359:Setd2
|
UTSW |
9 |
110,392,012 (GRCm39) |
missense |
|
|
|
R7492:Setd2
|
UTSW |
9 |
110,423,700 (GRCm39) |
missense |
|
|
|
R7643:Setd2
|
UTSW |
9 |
110,396,908 (GRCm39) |
splice site |
probably null |
|
|
R7869:Setd2
|
UTSW |
9 |
110,379,082 (GRCm39) |
nonsense |
probably null |
|
|
R7903:Setd2
|
UTSW |
9 |
110,446,905 (GRCm39) |
missense |
|
|
|
R8004:Setd2
|
UTSW |
9 |
110,421,613 (GRCm39) |
missense |
|
|
|
R8017:Setd2
|
UTSW |
9 |
110,431,255 (GRCm39) |
missense |
|
|
|
R8019:Setd2
|
UTSW |
9 |
110,431,255 (GRCm39) |
missense |
|
|
|
R8366:Setd2
|
UTSW |
9 |
110,377,816 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8460:Setd2
|
UTSW |
9 |
110,423,338 (GRCm39) |
missense |
|
|
|
R8498:Setd2
|
UTSW |
9 |
110,378,989 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8725:Setd2
|
UTSW |
9 |
110,402,912 (GRCm39) |
missense |
|
|
|
R8870:Setd2
|
UTSW |
9 |
110,423,321 (GRCm39) |
missense |
|
|
|
R8878:Setd2
|
UTSW |
9 |
110,421,467 (GRCm39) |
missense |
probably benign |
|
|
R9132:Setd2
|
UTSW |
9 |
110,374,385 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9159:Setd2
|
UTSW |
9 |
110,374,385 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9198:Setd2
|
UTSW |
9 |
110,378,168 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R9277:Setd2
|
UTSW |
9 |
110,379,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9326:Setd2
|
UTSW |
9 |
110,378,671 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9558:Setd2
|
UTSW |
9 |
110,376,628 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9664:Setd2
|
UTSW |
9 |
110,377,570 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9673:Setd2
|
UTSW |
9 |
110,378,138 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF009:Setd2
|
UTSW |
9 |
110,379,779 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Setd2
|
UTSW |
9 |
110,376,343 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1176:Setd2
|
UTSW |
9 |
110,361,794 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
Z1176:Setd2
|
UTSW |
9 |
110,376,647 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Z1177:Setd2
|
UTSW |
9 |
110,376,544 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGATCACGCTCAGCCCTTGGTAG -3'
(R):5'- TGCAAAAGGCCCAATGTTTCATCAC -3'
Sequencing Primer
(F):5'- GCCCTTGGTAGGACATTCTACAG -3'
(R):5'- GGCCCAATGTTTCATCACTAGAAC -3'
|
| Posted On |
2014-05-23 |
Incidental Mutation