Incidental Mutation 'R2051:Setd2'
| ID |
226439 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Setd2
|
| Ensembl Gene |
ENSMUSG00000044791 |
| Gene Name |
SET domain containing 2 |
| Synonyms |
KMT3A, 4921524K10Rik |
| MMRRC Submission |
040058-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.948)
|
| Stock # |
R2051 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
110361665-110447701 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 110379958 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Tyrosine
at position 1258
(H1258Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116313
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000153838]
|
| AlphaFold |
E9Q5F9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153838
AA Change: H1258Y
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000116313
Gene: ENSMUSG00000044791
AA Change: H1258Y
| 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: H974Y
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198823
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| 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: 99 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700123K08Rik |
G |
A |
5: 138,562,447 (GRCm39) |
T98M |
probably damaging |
Het |
| 4932414N04Rik |
G |
T |
2: 68,541,392 (GRCm39) |
K10N |
possibly damaging |
Het |
| Aadat |
T |
A |
8: 60,960,173 (GRCm39) |
S40T |
probably benign |
Het |
| Abca13 |
A |
G |
11: 9,278,098 (GRCm39) |
I3093V |
probably benign |
Het |
| Acacb |
A |
T |
5: 114,383,951 (GRCm39) |
Q2160L |
probably damaging |
Het |
| Acp6 |
G |
T |
3: 97,075,333 (GRCm39) |
S189I |
probably benign |
Het |
| Actr5 |
A |
T |
2: 158,474,213 (GRCm39) |
M339L |
probably benign |
Het |
| Adcy1 |
A |
T |
11: 7,111,885 (GRCm39) |
K917* |
probably null |
Het |
| Adgrg5 |
C |
T |
8: 95,668,695 (GRCm39) |
R504C |
probably benign |
Het |
| Ago1 |
T |
C |
4: 126,354,246 (GRCm39) |
H188R |
probably benign |
Het |
| Akap9 |
T |
A |
5: 4,025,685 (GRCm39) |
C23* |
probably null |
Het |
| Ank3 |
T |
C |
10: 69,733,920 (GRCm39) |
I728T |
probably damaging |
Het |
| Ankrd50 |
A |
G |
3: 38,508,642 (GRCm39) |
S1242P |
probably benign |
Het |
| Arhgap29 |
G |
A |
3: 121,775,509 (GRCm39) |
R84H |
probably benign |
Het |
| Arhgef10 |
A |
G |
8: 14,995,320 (GRCm39) |
D7G |
probably null |
Het |
| Arid4b |
A |
G |
13: 14,362,230 (GRCm39) |
E898G |
probably damaging |
Het |
| Atrnl1 |
A |
G |
19: 57,680,281 (GRCm39) |
N727S |
probably benign |
Het |
| Baalc |
G |
T |
15: 38,796,629 (GRCm39) |
|
probably benign |
Het |
| Cdc25c |
G |
C |
18: 34,871,292 (GRCm39) |
L275V |
probably damaging |
Het |
| Chpf2 |
G |
T |
5: 24,796,274 (GRCm39) |
V407L |
probably benign |
Het |
| Chrnb3 |
C |
A |
8: 27,876,839 (GRCm39) |
N84K |
probably damaging |
Het |
| Cnot1 |
A |
G |
8: 96,451,221 (GRCm39) |
F2171L |
possibly damaging |
Het |
| Csmd3 |
C |
T |
15: 48,485,389 (GRCm39) |
|
probably null |
Het |
| Cux1 |
T |
A |
5: 136,361,512 (GRCm39) |
Q138L |
probably damaging |
Het |
| Cyp2c65 |
A |
G |
19: 39,070,675 (GRCm39) |
N286S |
probably benign |
Het |
| Dclre1b |
T |
C |
3: 103,716,356 (GRCm39) |
S17G |
possibly damaging |
Het |
| Dlgap5 |
A |
G |
14: 47,648,941 (GRCm39) |
S221P |
probably benign |
Het |
| Dnah1 |
T |
G |
14: 31,001,080 (GRCm39) |
T2422P |
probably damaging |
Het |
| Enpp1 |
A |
G |
10: 24,587,702 (GRCm39) |
|
probably null |
Het |
| Erbb2 |
T |
C |
11: 98,310,998 (GRCm39) |
C53R |
probably damaging |
Het |
| Exoc8 |
A |
G |
8: 125,622,219 (GRCm39) |
V716A |
probably benign |
Het |
| Fam193a |
T |
A |
5: 34,619,494 (GRCm39) |
D766E |
probably benign |
Het |
| Fbxo43 |
C |
A |
15: 36,162,278 (GRCm39) |
G310W |
probably damaging |
Het |
| Fcgbp |
C |
T |
7: 27,819,785 (GRCm39) |
T2504I |
probably damaging |
Het |
| Fnbp4 |
C |
T |
2: 90,587,876 (GRCm39) |
P418L |
probably benign |
Het |
| Gjd2 |
T |
C |
2: 113,841,539 (GRCm39) |
T313A |
probably damaging |
Het |
| Gm12695 |
T |
A |
4: 96,658,008 (GRCm39) |
R54W |
probably damaging |
Het |
| Gm128 |
T |
C |
3: 95,148,051 (GRCm39) |
D81G |
possibly damaging |
Het |
| Gm21834 |
A |
G |
17: 58,048,763 (GRCm39) |
V151A |
possibly damaging |
Het |
| Grhl1 |
T |
A |
12: 24,636,151 (GRCm39) |
|
probably null |
Het |
| Hcn1 |
C |
T |
13: 118,112,619 (GRCm39) |
T861I |
probably damaging |
Het |
| Herc6 |
C |
A |
6: 57,602,961 (GRCm39) |
Q547K |
probably benign |
Het |
| Iqgap3 |
T |
C |
3: 88,027,474 (GRCm39) |
L699P |
probably damaging |
Het |
| Kank4 |
T |
C |
4: 98,668,339 (GRCm39) |
D36G |
probably damaging |
Het |
| Kcnk5 |
A |
T |
14: 20,192,277 (GRCm39) |
S295T |
probably damaging |
Het |
| Krt18 |
T |
C |
15: 101,937,935 (GRCm39) |
V144A |
probably benign |
Het |
| Krtap9-5 |
A |
G |
11: 99,840,030 (GRCm39) |
I244V |
unknown |
Het |
| Leng1 |
T |
G |
7: 3,668,400 (GRCm39) |
N16T |
probably damaging |
Het |
| Lss |
A |
G |
10: 76,367,712 (GRCm39) |
K15E |
possibly damaging |
Het |
| Mastl |
G |
T |
2: 23,022,836 (GRCm39) |
A629E |
possibly damaging |
Het |
| Mavs |
G |
C |
2: 131,082,370 (GRCm39) |
A85P |
possibly damaging |
Het |
| Nav3 |
T |
C |
10: 109,660,536 (GRCm39) |
D678G |
probably damaging |
Het |
| Nsd3 |
T |
G |
8: 26,181,116 (GRCm39) |
S906A |
probably damaging |
Het |
| Nsfl1c |
A |
G |
2: 151,345,002 (GRCm39) |
N118S |
probably damaging |
Het |
| Nup205 |
T |
A |
6: 35,207,451 (GRCm39) |
M1501K |
probably benign |
Het |
| Or4p7 |
C |
T |
2: 88,221,882 (GRCm39) |
T97M |
possibly damaging |
Het |
| Or6n1 |
T |
A |
1: 173,916,785 (GRCm39) |
Y60N |
possibly damaging |
Het |
| Pax8 |
A |
G |
2: 24,326,520 (GRCm39) |
S281P |
probably benign |
Het |
| Pds5b |
T |
G |
5: 150,671,655 (GRCm39) |
I433R |
probably damaging |
Het |
| Peg3 |
T |
C |
7: 6,715,720 (GRCm39) |
N117D |
probably damaging |
Het |
| Pfkm |
A |
T |
15: 98,029,573 (GRCm39) |
D728V |
probably benign |
Het |
| Phkb |
T |
C |
8: 86,776,450 (GRCm39) |
|
probably null |
Het |
| Pkp4 |
T |
C |
2: 59,165,248 (GRCm39) |
V704A |
probably benign |
Het |
| Ppfia2 |
T |
A |
10: 106,673,160 (GRCm39) |
S501T |
probably damaging |
Het |
| Ptpru |
T |
C |
4: 131,546,398 (GRCm39) |
E284G |
possibly damaging |
Het |
| Ror1 |
C |
T |
4: 100,265,065 (GRCm39) |
R180* |
probably null |
Het |
| Ryr3 |
T |
A |
2: 112,586,986 (GRCm39) |
Y2666F |
probably damaging |
Het |
| Sec23a |
C |
A |
12: 59,037,754 (GRCm39) |
|
probably null |
Het |
| Sertad3 |
C |
T |
7: 27,175,694 (GRCm39) |
Q43* |
probably null |
Het |
| Sharpin |
A |
G |
15: 76,232,407 (GRCm39) |
S177P |
probably benign |
Het |
| Skap1 |
T |
C |
11: 96,432,289 (GRCm39) |
F86S |
possibly damaging |
Het |
| Slc8a2 |
T |
C |
7: 15,874,940 (GRCm39) |
I396T |
probably damaging |
Het |
| Slc9a2 |
T |
C |
1: 40,765,597 (GRCm39) |
F329S |
probably damaging |
Het |
| Slx4ip |
C |
T |
2: 136,908,125 (GRCm39) |
L161F |
possibly damaging |
Het |
| Sox4 |
A |
G |
13: 29,136,764 (GRCm39) |
S81P |
probably damaging |
Het |
| Ssc4d |
G |
T |
5: 135,999,118 (GRCm39) |
S28R |
probably benign |
Het |
| St8sia2 |
C |
T |
7: 73,592,950 (GRCm39) |
G369S |
possibly damaging |
Het |
| Swt1 |
T |
C |
1: 151,248,081 (GRCm39) |
Y836C |
probably damaging |
Het |
| Taar7d |
A |
G |
10: 23,903,904 (GRCm39) |
D262G |
probably benign |
Het |
| Taar8b |
T |
A |
10: 23,967,212 (GRCm39) |
L327F |
probably benign |
Het |
| Tars1 |
A |
T |
15: 11,393,280 (GRCm39) |
L138* |
probably null |
Het |
| Tbcd |
A |
T |
11: 121,344,496 (GRCm39) |
D75V |
probably damaging |
Het |
| Tesc |
A |
G |
5: 118,184,394 (GRCm39) |
I25V |
probably damaging |
Het |
| Tmem132e |
G |
T |
11: 82,331,264 (GRCm39) |
S407I |
probably damaging |
Het |
| Tmem50b |
C |
A |
16: 91,377,180 (GRCm39) |
A95S |
possibly damaging |
Het |
| Tnr |
T |
C |
1: 159,719,603 (GRCm39) |
I960T |
probably benign |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Tpcn1 |
G |
C |
5: 120,681,453 (GRCm39) |
P532A |
probably damaging |
Het |
| Tpsb2 |
T |
C |
17: 25,585,539 (GRCm39) |
|
probably benign |
Het |
| Triobp |
C |
A |
15: 78,888,740 (GRCm39) |
H1948Q |
probably damaging |
Het |
| Tshb |
T |
C |
3: 102,684,857 (GRCm39) |
I116V |
probably benign |
Het |
| Ttc13 |
A |
T |
8: 125,398,950 (GRCm39) |
|
probably null |
Het |
| Usp34 |
A |
T |
11: 23,414,468 (GRCm39) |
T2804S |
probably damaging |
Het |
| Vmn2r18 |
A |
T |
5: 151,486,016 (GRCm39) |
C493S |
possibly damaging |
Het |
| Vmn2r2 |
T |
C |
3: 64,024,766 (GRCm39) |
K605R |
possibly damaging |
Het |
| Vmn2r37 |
T |
C |
7: 9,220,792 (GRCm39) |
Y357C |
probably damaging |
Het |
| Zc3h6 |
T |
G |
2: 128,857,538 (GRCm39) |
S686A |
possibly damaging |
Het |
| Zfp608 |
G |
A |
18: 55,121,386 (GRCm39) |
P67L |
probably benign |
Het |
| Zyg11a |
T |
C |
4: 108,049,244 (GRCm39) |
|
probably benign |
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 |
|
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'- CTCGGCAGCAGATGATTTTC -3'
(R):5'- ATGTGATCCACTTCGTTGATCC -3'
Sequencing Primer
(F):5'- CTCTAATCGGCCAGATAGTAGTAGAC -3'
(R):5'- GTGATCCACTTCGTTGATCCCAATG -3'
|
| Posted On |
2014-09-17 |
Incidental Mutation