Incidental Mutation 'R2117:Setd2'
| ID |
231093 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Setd2
|
| Ensembl Gene |
ENSMUSG00000044791 |
| Gene Name |
SET domain containing 2 |
| Synonyms |
4921524K10Rik, KMT3A |
| MMRRC Submission |
040121-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.939)
|
| Stock # |
R2117 (G1)
|
| Quality Score |
217 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
110532597-110618633 bp(+) (GRCm38) |
| Type of Mutation |
frame shift |
| DNA Base Change (assembly) |
TTGGGA to T
at 110604144 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000153838]
[ENSMUST00000197399]
|
| AlphaFold |
E9Q5F9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000153838
|
| SMART Domains |
Protein: ENSMUSP00000116313
Gene: ENSMUSG00000044791
| 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 null
Transcript: ENSMUST00000197399
|
| SMART Domains |
Protein: ENSMUSP00000142572
Gene: ENSMUSG00000044791
| Domain | Start | End | E-Value | Type |
|---|
|
WW
|
7 |
39 |
2.1e-11 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198697
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000200460
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 95.0%
|
| 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: 101 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
A |
T |
13: 81,492,537 (GRCm38) |
C3357S |
probably benign |
Het |
| Ago1 |
T |
A |
4: 126,463,857 (GRCm38) |
|
probably null |
Het |
| Akap10 |
A |
T |
11: 61,890,303 (GRCm38) |
D562E |
possibly damaging |
Het |
| Akr1b7 |
G |
A |
6: 34,418,994 (GRCm38) |
A144T |
possibly damaging |
Het |
| Ankle1 |
A |
G |
8: 71,407,918 (GRCm38) |
T340A |
probably benign |
Het |
| Arf5 |
C |
T |
6: 28,424,784 (GRCm38) |
Q71* |
probably null |
Het |
| Arl15 |
C |
T |
13: 113,967,660 (GRCm38) |
S111F |
probably damaging |
Het |
| Asph |
G |
A |
4: 9,517,671 (GRCm38) |
Q468* |
probably null |
Het |
| Bcam |
G |
T |
7: 19,758,427 (GRCm38) |
A581E |
possibly damaging |
Het |
| Blvra |
G |
T |
2: 127,086,069 (GRCm38) |
E80* |
probably null |
Het |
| Ccr6 |
T |
C |
17: 8,256,082 (GRCm38) |
F40L |
possibly damaging |
Het |
| Cfap161 |
A |
T |
7: 83,775,976 (GRCm38) |
N302K |
possibly damaging |
Het |
| Ckmt2 |
T |
A |
13: 91,855,845 (GRCm38) |
I345F |
probably benign |
Het |
| Cpsf6 |
A |
G |
10: 117,366,120 (GRCm38) |
|
probably benign |
Het |
| Ctnna1 |
A |
G |
18: 35,152,625 (GRCm38) |
N8S |
possibly damaging |
Het |
| Cyp2d11 |
A |
G |
15: 82,391,753 (GRCm38) |
L209P |
probably damaging |
Het |
| Dab2 |
T |
C |
15: 6,435,615 (GRCm38) |
V628A |
probably damaging |
Het |
| Dcstamp |
C |
T |
15: 39,755,175 (GRCm38) |
Q327* |
probably null |
Het |
| Defb38 |
A |
T |
8: 19,023,467 (GRCm38) |
Y63* |
probably null |
Het |
| Dlg5 |
A |
T |
14: 24,177,758 (GRCm38) |
L365* |
probably null |
Het |
| Dnai7 |
C |
T |
6: 145,205,241 (GRCm38) |
|
probably null |
Het |
| Dnmt3l |
C |
A |
10: 78,063,296 (GRCm38) |
L110I |
probably damaging |
Het |
| Exoc3l2 |
G |
T |
7: 19,494,982 (GRCm38) |
L108F |
possibly damaging |
Het |
| Exoc4 |
T |
A |
6: 33,347,825 (GRCm38) |
N351K |
possibly damaging |
Het |
| Fam83h |
C |
A |
15: 76,004,733 (GRCm38) |
E252* |
probably null |
Het |
| Fancm |
A |
G |
12: 65,077,174 (GRCm38) |
D202G |
probably damaging |
Het |
| Fat1 |
T |
A |
8: 45,037,463 (GRCm38) |
V3804E |
probably benign |
Het |
| Fbxw28 |
T |
C |
9: 109,330,917 (GRCm38) |
T190A |
probably benign |
Het |
| Fer1l4 |
T |
C |
2: 156,039,118 (GRCm38) |
T843A |
probably benign |
Het |
| Fnip1 |
A |
T |
11: 54,500,624 (GRCm38) |
H461L |
probably damaging |
Het |
| Gcn1 |
A |
T |
5: 115,598,825 (GRCm38) |
M1276L |
probably benign |
Het |
| Gemin4 |
A |
G |
11: 76,211,001 (GRCm38) |
V978A |
possibly damaging |
Het |
| Gm7247 |
A |
T |
14: 51,365,335 (GRCm38) |
I43F |
probably damaging |
Het |
| Gm9978 |
C |
T |
10: 78,486,897 (GRCm38) |
|
noncoding transcript |
Het |
| Gpr4 |
T |
C |
7: 19,223,145 (GRCm38) |
S331P |
probably damaging |
Het |
| Hspa1a |
T |
A |
17: 34,970,479 (GRCm38) |
N483Y |
probably damaging |
Het |
| Ift74 |
A |
G |
4: 94,627,259 (GRCm38) |
T138A |
probably benign |
Het |
| Ints14 |
T |
G |
9: 64,979,795 (GRCm38) |
L336R |
probably damaging |
Het |
| Irak1 |
G |
T |
X: 74,022,612 (GRCm38) |
P197Q |
possibly damaging |
Het |
| Kif4 |
A |
G |
X: 100,665,717 (GRCm38) |
S315G |
probably benign |
Het |
| L3mbtl1 |
T |
A |
2: 162,960,070 (GRCm38) |
|
probably null |
Het |
| Lamb3 |
A |
G |
1: 193,334,181 (GRCm38) |
R657G |
probably benign |
Het |
| Ldc1 |
C |
A |
4: 130,215,363 (GRCm38) |
V295L |
possibly damaging |
Het |
| Lrp2 |
A |
C |
2: 69,483,385 (GRCm38) |
V2334G |
probably benign |
Het |
| Lrwd1 |
T |
A |
5: 136,130,478 (GRCm38) |
Y431F |
probably damaging |
Het |
| Map3k21 |
A |
T |
8: 125,924,042 (GRCm38) |
H261L |
probably benign |
Het |
| Meis1 |
G |
T |
11: 18,881,679 (GRCm38) |
P453Q |
probably damaging |
Het |
| Mettl16 |
G |
T |
11: 74,802,929 (GRCm38) |
M255I |
probably benign |
Het |
| Mllt10 |
A |
G |
2: 18,162,569 (GRCm38) |
N435S |
probably benign |
Het |
| Mta2 |
T |
C |
19: 8,943,516 (GRCm38) |
I27T |
probably damaging |
Het |
| Nav2 |
A |
G |
7: 49,464,580 (GRCm38) |
I771V |
probably benign |
Het |
| Nisch |
A |
T |
14: 31,177,285 (GRCm38) |
|
probably benign |
Het |
| Npc1 |
G |
A |
18: 12,196,556 (GRCm38) |
P990L |
probably damaging |
Het |
| Nrxn1 |
A |
T |
17: 90,704,277 (GRCm38) |
I308K |
probably damaging |
Het |
| Or13l2 |
C |
A |
3: 97,410,449 (GRCm38) |
C244F |
probably damaging |
Het |
| Or1ad6 |
A |
T |
11: 50,969,320 (GRCm38) |
I101F |
probably damaging |
Het |
| Or5h17 |
T |
C |
16: 59,000,420 (GRCm38) |
L245P |
possibly damaging |
Het |
| Otogl |
T |
C |
10: 107,858,918 (GRCm38) |
D823G |
probably benign |
Het |
| P2rx7 |
A |
G |
5: 122,681,266 (GRCm38) |
T584A |
probably benign |
Het |
| Pals1 |
T |
C |
12: 78,809,922 (GRCm38) |
F180L |
possibly damaging |
Het |
| Pank1 |
T |
A |
19: 34,841,086 (GRCm38) |
I18F |
probably damaging |
Het |
| Pgap3 |
A |
G |
11: 98,391,107 (GRCm38) |
L126P |
probably damaging |
Het |
| Pgap6 |
C |
T |
17: 26,117,884 (GRCm38) |
L259F |
possibly damaging |
Het |
| Phka1 |
C |
T |
X: 102,610,201 (GRCm38) |
R290H |
probably damaging |
Het |
| Pkd2 |
G |
A |
5: 104,483,176 (GRCm38) |
E489K |
probably damaging |
Het |
| Prdm16 |
T |
A |
4: 154,347,925 (GRCm38) |
S296C |
probably null |
Het |
| Prex2 |
T |
A |
1: 11,186,713 (GRCm38) |
N1216K |
probably damaging |
Het |
| Prmt7 |
A |
G |
8: 106,227,298 (GRCm38) |
T124A |
probably damaging |
Het |
| Ptpra |
G |
T |
2: 130,539,735 (GRCm38) |
R372L |
probably damaging |
Het |
| Ptpro |
T |
A |
6: 137,443,594 (GRCm38) |
V1007D |
probably damaging |
Het |
| Rap2b |
G |
T |
3: 61,365,091 (GRCm38) |
G12V |
probably damaging |
Het |
| Rapgef5 |
T |
A |
12: 117,714,064 (GRCm38) |
|
probably null |
Het |
| Rassf4 |
A |
G |
6: 116,645,127 (GRCm38) |
F168S |
possibly damaging |
Het |
| Rtf1 |
T |
A |
2: 119,705,518 (GRCm38) |
H184Q |
probably benign |
Het |
| Sacs |
A |
G |
14: 61,213,771 (GRCm38) |
K4422R |
probably benign |
Het |
| Sec11c |
A |
T |
18: 65,800,649 (GRCm38) |
T9S |
probably benign |
Het |
| Sema3d |
C |
T |
5: 12,563,273 (GRCm38) |
T439I |
probably benign |
Het |
| Sephs1 |
A |
G |
2: 4,899,540 (GRCm38) |
N243S |
probably benign |
Het |
| Setx |
A |
G |
2: 29,130,301 (GRCm38) |
D100G |
probably benign |
Het |
| Slc22a7 |
C |
A |
17: 46,433,972 (GRCm38) |
V383L |
possibly damaging |
Het |
| Slc25a40 |
T |
C |
5: 8,430,417 (GRCm38) |
C56R |
probably damaging |
Het |
| Stk38l |
T |
A |
6: 146,768,846 (GRCm38) |
L229I |
probably damaging |
Het |
| Sult2a5 |
T |
C |
7: 13,625,434 (GRCm38) |
S112P |
probably damaging |
Het |
| Syt4 |
A |
G |
18: 31,440,467 (GRCm38) |
Y332H |
probably damaging |
Het |
| Tcof1 |
T |
C |
18: 60,832,785 (GRCm38) |
E415G |
possibly damaging |
Het |
| Tenm2 |
A |
G |
11: 36,024,854 (GRCm38) |
L1951P |
probably damaging |
Het |
| Tlr9 |
A |
G |
9: 106,225,337 (GRCm38) |
N609S |
probably damaging |
Het |
| Tmem120a |
A |
T |
5: 135,736,123 (GRCm38) |
S266T |
possibly damaging |
Het |
| Tmem132b |
A |
G |
5: 125,622,551 (GRCm38) |
E92G |
probably damaging |
Het |
| Tnfrsf18 |
T |
A |
4: 156,028,516 (GRCm38) |
V196E |
probably damaging |
Het |
| Trpc1 |
A |
T |
9: 95,717,584 (GRCm38) |
L474H |
probably damaging |
Het |
| Trpm6 |
T |
C |
19: 18,829,952 (GRCm38) |
V1020A |
probably damaging |
Het |
| Usp20 |
T |
A |
2: 31,016,305 (GRCm38) |
C562S |
probably damaging |
Het |
| Usp47 |
T |
A |
7: 112,067,236 (GRCm38) |
|
probably null |
Het |
| Vgll1 |
A |
C |
X: 57,092,430 (GRCm38) |
K53T |
probably damaging |
Het |
| Vmn1r26 |
T |
C |
6: 58,008,350 (GRCm38) |
N285D |
possibly damaging |
Het |
| Zfp445 |
T |
A |
9: 122,853,437 (GRCm38) |
K480* |
probably null |
Het |
| Zfp786 |
A |
G |
6: 47,826,997 (GRCm38) |
V37A |
probably damaging |
Het |
| Zfp821 |
A |
G |
8: 109,721,219 (GRCm38) |
E64G |
probably damaging |
Het |
| Zfp994 |
T |
A |
17: 22,200,981 (GRCm38) |
D329V |
probably damaging |
Het |
| Zkscan8 |
T |
C |
13: 21,520,318 (GRCm38) |
S484G |
probably damaging |
Het |
|
| Other mutations in Setd2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00722:Setd2
|
APN |
9 |
110,551,136 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
IGL01023:Setd2
|
APN |
9 |
110,547,513 (GRCm38) |
nonsense |
probably null |
|
|
IGL01063:Setd2
|
APN |
9 |
110,573,673 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01745:Setd2
|
APN |
9 |
110,594,711 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL01911:Setd2
|
APN |
9 |
110,617,431 (GRCm38) |
splice site |
probably null |
|
|
IGL01955:Setd2
|
APN |
9 |
110,549,318 (GRCm38) |
missense |
probably benign |
0.38 |
|
IGL02023:Setd2
|
APN |
9 |
110,594,636 (GRCm38) |
missense |
probably benign |
0.06 |
|
IGL02080:Setd2
|
APN |
9 |
110,547,450 (GRCm38) |
splice site |
probably null |
|
|
IGL02412:Setd2
|
APN |
9 |
110,550,774 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02519:Setd2
|
APN |
9 |
110,553,116 (GRCm38) |
missense |
probably damaging |
0.97 |
|
IGL02631:Setd2
|
APN |
9 |
110,550,576 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
IGL02754:Setd2
|
APN |
9 |
110,550,056 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
IGL02828:Setd2
|
APN |
9 |
110,561,214 (GRCm38) |
missense |
probably benign |
0.31 |
|
IGL03033:Setd2
|
APN |
9 |
110,551,275 (GRCm38) |
missense |
possibly damaging |
0.96 |
|
IGL03140:Setd2
|
APN |
9 |
110,614,952 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL03378:Setd2
|
APN |
9 |
110,553,152 (GRCm38) |
missense |
unknown |
|
|
American_samoa
|
UTSW |
9 |
110,567,758 (GRCm38) |
nonsense |
probably null |
|
|
slingshot
|
UTSW |
9 |
110,549,507 (GRCm38) |
missense |
probably benign |
0.00 |
|
P0028:Setd2
|
UTSW |
9 |
110,573,954 (GRCm38) |
missense |
probably benign |
0.00 |
|
PIT4544001:Setd2
|
UTSW |
9 |
110,551,164 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0058:Setd2
|
UTSW |
9 |
110,594,426 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R0058:Setd2
|
UTSW |
9 |
110,594,426 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R0167:Setd2
|
UTSW |
9 |
110,573,782 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0408:Setd2
|
UTSW |
9 |
110,594,242 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0452:Setd2
|
UTSW |
9 |
110,553,100 (GRCm38) |
splice site |
probably null |
|
|
R0541:Setd2
|
UTSW |
9 |
110,573,673 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0947:Setd2
|
UTSW |
9 |
110,548,511 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R1249:Setd2
|
UTSW |
9 |
110,573,880 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1294:Setd2
|
UTSW |
9 |
110,549,507 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1518:Setd2
|
UTSW |
9 |
110,602,238 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1585:Setd2
|
UTSW |
9 |
110,551,396 (GRCm38) |
missense |
unknown |
|
|
R1647:Setd2
|
UTSW |
9 |
110,549,864 (GRCm38) |
missense |
probably benign |
0.12 |
|
R1649:Setd2
|
UTSW |
9 |
110,549,864 (GRCm38) |
missense |
probably benign |
0.12 |
|
R1651:Setd2
|
UTSW |
9 |
110,549,864 (GRCm38) |
missense |
probably benign |
0.12 |
|
R1652:Setd2
|
UTSW |
9 |
110,549,864 (GRCm38) |
missense |
probably benign |
0.12 |
|
R1673:Setd2
|
UTSW |
9 |
110,604,180 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R1703:Setd2
|
UTSW |
9 |
110,549,864 (GRCm38) |
missense |
probably benign |
0.12 |
|
R1706:Setd2
|
UTSW |
9 |
110,549,864 (GRCm38) |
missense |
probably benign |
0.12 |
|
R1709:Setd2
|
UTSW |
9 |
110,549,857 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1752:Setd2
|
UTSW |
9 |
110,594,605 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1796:Setd2
|
UTSW |
9 |
110,617,816 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R1796:Setd2
|
UTSW |
9 |
110,550,345 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1812:Setd2
|
UTSW |
9 |
110,550,102 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1884:Setd2
|
UTSW |
9 |
110,556,418 (GRCm38) |
critical splice donor site |
probably null |
|
|
R2024:Setd2
|
UTSW |
9 |
110,549,133 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R2051:Setd2
|
UTSW |
9 |
110,550,890 (GRCm38) |
missense |
probably benign |
|
|
R2120:Setd2
|
UTSW |
9 |
110,549,864 (GRCm38) |
missense |
probably benign |
0.12 |
|
R2124:Setd2
|
UTSW |
9 |
110,549,864 (GRCm38) |
missense |
probably benign |
0.12 |
|
R2172:Setd2
|
UTSW |
9 |
110,549,844 (GRCm38) |
missense |
probably benign |
0.10 |
|
R2179:Setd2
|
UTSW |
9 |
110,594,688 (GRCm38) |
nonsense |
probably null |
|
|
R2262:Setd2
|
UTSW |
9 |
110,561,243 (GRCm38) |
intron |
probably benign |
|
|
R2411:Setd2
|
UTSW |
9 |
110,550,429 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
R2413:Setd2
|
UTSW |
9 |
110,547,504 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2419:Setd2
|
UTSW |
9 |
110,548,997 (GRCm38) |
missense |
possibly damaging |
0.48 |
|
R2424:Setd2
|
UTSW |
9 |
110,617,522 (GRCm38) |
missense |
probably benign |
0.37 |
|
R3757:Setd2
|
UTSW |
9 |
110,573,685 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R3765:Setd2
|
UTSW |
9 |
110,594,246 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3796:Setd2
|
UTSW |
9 |
110,549,571 (GRCm38) |
missense |
probably benign |
0.00 |
|
R3797:Setd2
|
UTSW |
9 |
110,549,571 (GRCm38) |
missense |
probably benign |
0.00 |
|
R3799:Setd2
|
UTSW |
9 |
110,549,571 (GRCm38) |
missense |
probably benign |
0.00 |
|
R3899:Setd2
|
UTSW |
9 |
110,592,518 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3900:Setd2
|
UTSW |
9 |
110,592,518 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3913:Setd2
|
UTSW |
9 |
110,551,046 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4010:Setd2
|
UTSW |
9 |
110,599,195 (GRCm38) |
missense |
probably null |
1.00 |
|
R4580:Setd2
|
UTSW |
9 |
110,574,243 (GRCm38) |
missense |
probably benign |
0.06 |
|
R4614:Setd2
|
UTSW |
9 |
110,569,813 (GRCm38) |
critical splice donor site |
probably null |
|
|
R4651:Setd2
|
UTSW |
9 |
110,594,132 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R4652:Setd2
|
UTSW |
9 |
110,594,132 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R4855:Setd2
|
UTSW |
9 |
110,571,954 (GRCm38) |
missense |
probably benign |
0.02 |
|
R4970:Setd2
|
UTSW |
9 |
110,548,158 (GRCm38) |
missense |
probably benign |
0.28 |
|
R5112:Setd2
|
UTSW |
9 |
110,548,158 (GRCm38) |
missense |
probably benign |
0.28 |
|
R5123:Setd2
|
UTSW |
9 |
110,617,527 (GRCm38) |
missense |
possibly damaging |
0.76 |
|
R5140:Setd2
|
UTSW |
9 |
110,551,129 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5202:Setd2
|
UTSW |
9 |
110,551,230 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5290:Setd2
|
UTSW |
9 |
110,617,831 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5560:Setd2
|
UTSW |
9 |
110,549,839 (GRCm38) |
nonsense |
probably null |
|
|
R5604:Setd2
|
UTSW |
9 |
110,604,216 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5678:Setd2
|
UTSW |
9 |
110,602,186 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5708:Setd2
|
UTSW |
9 |
110,548,823 (GRCm38) |
missense |
possibly damaging |
0.59 |
|
R5763:Setd2
|
UTSW |
9 |
110,556,275 (GRCm38) |
splice site |
probably null |
|
|
R5814:Setd2
|
UTSW |
9 |
110,567,758 (GRCm38) |
nonsense |
probably null |
|
|
R5924:Setd2
|
UTSW |
9 |
110,574,044 (GRCm38) |
missense |
probably benign |
0.23 |
|
R6244:Setd2
|
UTSW |
9 |
110,548,665 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6313:Setd2
|
UTSW |
9 |
110,556,366 (GRCm38) |
missense |
unknown |
|
|
R6431:Setd2
|
UTSW |
9 |
110,550,385 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R6526:Setd2
|
UTSW |
9 |
110,532,717 (GRCm38) |
missense |
probably benign |
0.33 |
|
R6579:Setd2
|
UTSW |
9 |
110,549,778 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R6996:Setd2
|
UTSW |
9 |
110,550,572 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7012:Setd2
|
UTSW |
9 |
110,547,683 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R7105:Setd2
|
UTSW |
9 |
110,548,260 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7134:Setd2
|
UTSW |
9 |
110,548,797 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R7222:Setd2
|
UTSW |
9 |
110,551,462 (GRCm38) |
missense |
|
|
|
R7359:Setd2
|
UTSW |
9 |
110,562,944 (GRCm38) |
missense |
|
|
|
R7492:Setd2
|
UTSW |
9 |
110,594,632 (GRCm38) |
missense |
|
|
|
R7643:Setd2
|
UTSW |
9 |
110,567,840 (GRCm38) |
splice site |
probably null |
|
|
R7869:Setd2
|
UTSW |
9 |
110,550,014 (GRCm38) |
nonsense |
probably null |
|
|
R7903:Setd2
|
UTSW |
9 |
110,617,837 (GRCm38) |
missense |
|
|
|
R8004:Setd2
|
UTSW |
9 |
110,592,545 (GRCm38) |
missense |
|
|
|
R8017:Setd2
|
UTSW |
9 |
110,602,187 (GRCm38) |
missense |
|
|
|
R8019:Setd2
|
UTSW |
9 |
110,602,187 (GRCm38) |
missense |
|
|
|
R8366:Setd2
|
UTSW |
9 |
110,548,748 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8460:Setd2
|
UTSW |
9 |
110,594,270 (GRCm38) |
missense |
|
|
|
R8498:Setd2
|
UTSW |
9 |
110,549,921 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8725:Setd2
|
UTSW |
9 |
110,573,844 (GRCm38) |
missense |
|
|
|
R8870:Setd2
|
UTSW |
9 |
110,594,253 (GRCm38) |
missense |
|
|
|
R8878:Setd2
|
UTSW |
9 |
110,592,399 (GRCm38) |
missense |
probably benign |
|
|
R9132:Setd2
|
UTSW |
9 |
110,545,317 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9159:Setd2
|
UTSW |
9 |
110,545,317 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9198:Setd2
|
UTSW |
9 |
110,549,100 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R9277:Setd2
|
UTSW |
9 |
110,550,551 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9326:Setd2
|
UTSW |
9 |
110,549,603 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9558:Setd2
|
UTSW |
9 |
110,547,560 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9664:Setd2
|
UTSW |
9 |
110,548,502 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9673:Setd2
|
UTSW |
9 |
110,549,070 (GRCm38) |
missense |
probably damaging |
1.00 |
|
RF009:Setd2
|
UTSW |
9 |
110,550,711 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1176:Setd2
|
UTSW |
9 |
110,547,275 (GRCm38) |
missense |
probably damaging |
0.99 |
|
Z1176:Setd2
|
UTSW |
9 |
110,532,726 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
Z1176:Setd2
|
UTSW |
9 |
110,547,579 (GRCm38) |
missense |
probably damaging |
0.97 |
|
Z1177:Setd2
|
UTSW |
9 |
110,547,476 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATTGCTGAGGAGAAGCTATCAG -3'
(R):5'- CTGGTATGTTTCCTGCATATATGTC -3'
Sequencing Primer
(F):5'- CAGGGCTGTCTGTTACTTT -3'
(R):5'- AGGCAGTTGTAACCTGTCAC -3'
|
| Posted On |
2014-09-18 |
Incidental Mutation