Incidental Mutation 'R5112:Setd2'
| ID |
393943 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Setd2
|
| Ensembl Gene |
ENSMUSG00000044791 |
| Gene Name |
SET domain containing 2 |
| Synonyms |
KMT3A, 4921524K10Rik |
| MMRRC Submission |
042700-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.925)
|
| Stock # |
R5112 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
110361665-110447701 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 110377226 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 347
(D347G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116313
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000153838]
|
| AlphaFold |
E9Q5F9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153838
AA Change: D347G
PolyPhen 2
Score 0.282 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000116313
Gene: ENSMUSG00000044791
AA Change: D347G
| 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 |
unknown
Transcript: ENSMUST00000196814
AA Change: D63G
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198823
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199595
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 92.6%
|
| 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: 103 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca2 |
A |
G |
2: 25,328,383 (GRCm39) |
K846R |
probably damaging |
Het |
| Acsbg3 |
T |
A |
17: 57,184,465 (GRCm39) |
M80K |
probably benign |
Het |
| Acsm5 |
A |
G |
7: 119,136,502 (GRCm39) |
K358E |
possibly damaging |
Het |
| Adam26a |
A |
T |
8: 44,021,893 (GRCm39) |
D532E |
probably benign |
Het |
| Adamts19 |
C |
T |
18: 59,164,876 (GRCm39) |
R993* |
probably null |
Het |
| Akr1c13 |
A |
G |
13: 4,244,151 (GRCm39) |
K68R |
possibly damaging |
Het |
| Amer3 |
T |
A |
1: 34,626,157 (GRCm39) |
M132K |
possibly damaging |
Het |
| Ankrd2 |
A |
G |
19: 42,028,326 (GRCm39) |
D38G |
possibly damaging |
Het |
| Ano7 |
G |
A |
1: 93,325,085 (GRCm39) |
V546M |
possibly damaging |
Het |
| Aox1 |
G |
A |
1: 58,349,254 (GRCm39) |
|
probably null |
Het |
| Apc |
T |
A |
18: 34,449,162 (GRCm39) |
C1985* |
probably null |
Het |
| Astn1 |
C |
T |
1: 158,484,763 (GRCm39) |
S15F |
possibly damaging |
Het |
| Atp13a4 |
A |
T |
16: 29,228,686 (GRCm39) |
N950K |
possibly damaging |
Het |
| Bcl6 |
A |
G |
16: 23,791,496 (GRCm39) |
V286A |
probably benign |
Het |
| Brox |
T |
A |
1: 183,073,541 (GRCm39) |
T79S |
probably benign |
Het |
| C2cd3 |
A |
T |
7: 100,092,692 (GRCm39) |
I512F |
possibly damaging |
Het |
| Camta1 |
A |
G |
4: 151,158,511 (GRCm39) |
L542S |
probably damaging |
Het |
| Capn13 |
GCA |
G |
17: 73,658,501 (GRCm39) |
|
probably null |
Het |
| Card10 |
C |
T |
15: 78,686,580 (GRCm39) |
|
probably null |
Het |
| Cd96 |
A |
G |
16: 45,919,301 (GRCm39) |
M240T |
probably benign |
Het |
| Cdc123 |
A |
G |
2: 5,809,748 (GRCm39) |
L221P |
possibly damaging |
Het |
| Cdh19 |
A |
G |
1: 110,882,354 (GRCm39) |
V46A |
possibly damaging |
Het |
| Clcn3 |
G |
A |
8: 61,407,586 (GRCm39) |
H24Y |
probably benign |
Het |
| Col11a2 |
T |
C |
17: 34,283,062 (GRCm39) |
|
probably benign |
Het |
| Cpsf3 |
A |
T |
12: 21,341,785 (GRCm39) |
M50L |
probably benign |
Het |
| Csf3 |
T |
A |
11: 98,593,749 (GRCm39) |
L197Q |
probably damaging |
Het |
| Ctsw |
T |
A |
19: 5,516,285 (GRCm39) |
D196V |
probably damaging |
Het |
| Dcun1d3 |
A |
T |
7: 119,457,250 (GRCm39) |
I154K |
probably damaging |
Het |
| Ddr1 |
T |
C |
17: 35,993,377 (GRCm39) |
T877A |
probably benign |
Het |
| Dnah8 |
T |
A |
17: 30,950,012 (GRCm39) |
L1944I |
probably benign |
Het |
| Dpf3 |
G |
T |
12: 83,417,385 (GRCm39) |
S29* |
probably null |
Het |
| Ephb1 |
A |
G |
9: 101,848,378 (GRCm39) |
I640T |
probably damaging |
Het |
| Fat1 |
G |
A |
8: 45,477,319 (GRCm39) |
G2099S |
probably damaging |
Het |
| Fbxo41 |
G |
T |
6: 85,454,906 (GRCm39) |
N667K |
probably damaging |
Het |
| Flacc1 |
T |
C |
1: 58,698,441 (GRCm39) |
T326A |
probably benign |
Het |
| Gart |
A |
T |
16: 91,430,933 (GRCm39) |
D376E |
probably benign |
Het |
| Glyr1 |
G |
A |
16: 4,836,740 (GRCm39) |
Q475* |
probably null |
Het |
| Gm28051 |
G |
A |
12: 102,686,430 (GRCm39) |
Q77* |
probably null |
Het |
| Gnmt |
C |
A |
17: 47,037,256 (GRCm39) |
R176L |
probably damaging |
Het |
| Gpr176 |
A |
T |
2: 118,110,629 (GRCm39) |
V210D |
possibly damaging |
Het |
| Gtf2ird1 |
A |
T |
5: 134,431,038 (GRCm39) |
D339E |
probably damaging |
Het |
| Hmbox1 |
A |
G |
14: 65,063,061 (GRCm39) |
Y372H |
probably damaging |
Het |
| Ier2 |
G |
T |
8: 85,389,361 (GRCm39) |
A7E |
probably damaging |
Het |
| Il20ra |
A |
G |
10: 19,634,691 (GRCm39) |
T311A |
possibly damaging |
Het |
| Il24 |
T |
C |
1: 130,811,179 (GRCm39) |
|
probably null |
Het |
| Insl6 |
G |
A |
19: 29,298,996 (GRCm39) |
Q139* |
probably null |
Het |
| Itga2b |
A |
T |
11: 102,349,017 (GRCm39) |
I729K |
probably damaging |
Het |
| Itpr2 |
A |
T |
6: 146,135,489 (GRCm39) |
M1814K |
possibly damaging |
Het |
| Klhl3 |
G |
A |
13: 58,166,703 (GRCm39) |
S429F |
probably damaging |
Het |
| Lipo2 |
T |
C |
19: 33,725,865 (GRCm39) |
N129S |
probably benign |
Het |
| Lrba |
C |
T |
3: 86,132,678 (GRCm39) |
T28M |
probably benign |
Het |
| Ly86 |
G |
T |
13: 37,559,013 (GRCm39) |
G71C |
probably damaging |
Het |
| Maob |
T |
C |
X: 16,582,662 (GRCm39) |
T400A |
probably benign |
Het |
| Mical2 |
A |
G |
7: 111,919,818 (GRCm39) |
S443G |
probably damaging |
Het |
| Mmp17 |
A |
G |
5: 129,679,229 (GRCm39) |
H376R |
possibly damaging |
Het |
| Mplkipl1 |
C |
T |
19: 61,164,364 (GRCm39) |
G24R |
unknown |
Het |
| Myo7b |
T |
C |
18: 32,116,640 (GRCm39) |
H989R |
probably damaging |
Het |
| Neil2 |
A |
G |
14: 63,425,909 (GRCm39) |
W154R |
probably damaging |
Het |
| Nlrp12 |
G |
A |
7: 3,289,613 (GRCm39) |
H300Y |
possibly damaging |
Het |
| Nlrp3 |
A |
T |
11: 59,439,554 (GRCm39) |
Y377F |
probably damaging |
Het |
| Notch2 |
T |
C |
3: 98,008,952 (GRCm39) |
|
probably null |
Het |
| Nudcd1 |
A |
T |
15: 44,240,039 (GRCm39) |
C500* |
probably null |
Het |
| Or5b24 |
T |
C |
19: 12,912,180 (GRCm39) |
V26A |
probably benign |
Het |
| Or5d37 |
A |
G |
2: 87,923,353 (GRCm39) |
V309A |
probably damaging |
Het |
| Or8g18 |
A |
G |
9: 39,149,717 (GRCm39) |
M1T |
probably null |
Het |
| Or8h9 |
A |
T |
2: 86,789,698 (GRCm39) |
Y35N |
probably damaging |
Het |
| Pabpc6 |
T |
A |
17: 9,888,540 (GRCm39) |
S4C |
probably damaging |
Het |
| Pan2 |
C |
T |
10: 128,151,464 (GRCm39) |
R835* |
probably null |
Het |
| Parp9 |
G |
A |
16: 35,784,683 (GRCm39) |
V346I |
probably damaging |
Het |
| Pcbp4 |
C |
T |
9: 106,337,917 (GRCm39) |
T69M |
probably damaging |
Het |
| Pclo |
T |
A |
5: 14,727,896 (GRCm39) |
|
probably benign |
Het |
| Phldb3 |
A |
T |
7: 24,324,110 (GRCm39) |
I495F |
possibly damaging |
Het |
| Plce1 |
G |
T |
19: 38,640,277 (GRCm39) |
V508F |
probably benign |
Het |
| Pmpca |
A |
T |
2: 26,285,178 (GRCm39) |
I468F |
probably damaging |
Het |
| Pmpcb |
G |
A |
5: 21,961,441 (GRCm39) |
R399H |
probably damaging |
Het |
| Ptprc |
A |
G |
1: 138,022,037 (GRCm39) |
S544P |
probably damaging |
Het |
| Rev3l |
T |
A |
10: 39,699,326 (GRCm39) |
D1274E |
probably benign |
Het |
| Ryr3 |
A |
T |
2: 112,733,010 (GRCm39) |
V612E |
probably damaging |
Het |
| Scfd2 |
G |
T |
5: 74,366,982 (GRCm39) |
H639Q |
probably benign |
Het |
| Sell |
T |
A |
1: 163,892,887 (GRCm39) |
H34Q |
possibly damaging |
Het |
| Sgip1 |
G |
A |
4: 102,726,966 (GRCm39) |
D81N |
probably damaging |
Het |
| Slc12a1 |
A |
T |
2: 125,060,144 (GRCm39) |
I940F |
possibly damaging |
Het |
| Slc25a34 |
T |
A |
4: 141,348,769 (GRCm39) |
I232L |
probably benign |
Het |
| Slc36a3 |
T |
A |
11: 55,039,399 (GRCm39) |
K76N |
probably damaging |
Het |
| Slc6a15 |
T |
A |
10: 103,225,087 (GRCm39) |
D58E |
probably benign |
Het |
| Slc6a7 |
T |
C |
18: 61,140,448 (GRCm39) |
S195G |
probably null |
Het |
| Svep1 |
G |
A |
4: 58,068,610 (GRCm39) |
Q3059* |
probably null |
Het |
| Syce1l |
A |
C |
8: 114,378,274 (GRCm39) |
H56P |
probably damaging |
Het |
| Tbc1d2 |
A |
G |
4: 46,606,503 (GRCm39) |
V814A |
probably damaging |
Het |
| Tbx18 |
T |
A |
9: 87,597,740 (GRCm39) |
I265F |
probably damaging |
Het |
| Thbs2 |
T |
C |
17: 14,890,852 (GRCm39) |
|
probably null |
Het |
| Ttll1 |
T |
C |
15: 83,380,597 (GRCm39) |
H256R |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Ttyh2 |
A |
T |
11: 114,587,583 (GRCm39) |
T195S |
probably benign |
Het |
| Unc119b |
A |
G |
5: 115,263,553 (GRCm39) |
L217P |
probably damaging |
Het |
| Unc5a |
T |
C |
13: 55,151,231 (GRCm39) |
|
probably null |
Het |
| Usp6nl |
A |
G |
2: 6,425,714 (GRCm39) |
K152E |
probably benign |
Het |
| Vcam1 |
T |
C |
3: 115,910,941 (GRCm39) |
R486G |
probably benign |
Het |
| Vmn2r1 |
A |
C |
3: 63,997,544 (GRCm39) |
Q400P |
possibly damaging |
Het |
| Vmn2r80 |
T |
A |
10: 79,030,292 (GRCm39) |
V706D |
possibly damaging |
Het |
| Vmn2r87 |
A |
T |
10: 130,314,422 (GRCm39) |
L388Q |
probably damaging |
Het |
| Vwa3a |
A |
T |
7: 120,383,208 (GRCm39) |
Y603F |
probably damaging |
Het |
| Zfp850 |
A |
T |
7: 27,689,658 (GRCm39) |
C183* |
probably null |
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 |
|
R1752:Setd2
|
UTSW |
9 |
110,423,673 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- GGAACAAGCAGATCATCTCCTG -3'
(R):5'- GATCTAGAACGAGATCGGCTTCG -3'
Sequencing Primer
(F):5'- CTGCAAAAAGAAGATTCCCATATTGG -3'
(R):5'- GCCTTCGATCTCTTTCGGAC -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation