Incidental Mutation 'R0521:Kdm5b'
| ID |
48504 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kdm5b
|
| Ensembl Gene |
ENSMUSG00000042207 |
| Gene Name |
lysine demethylase 5B |
| Synonyms |
2010009J12Rik, PLU-1, Rb-Bp2, Jarid1b, D1Ertd202e, Plu1, 2210016I17Rik |
| MMRRC Submission |
038714-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.356)
|
| Stock # |
R0521 (G1)
|
| Quality Score |
148 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
134487916-134560621 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 134545771 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 977
(S977R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107817
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047714]
[ENSMUST00000112198]
|
| AlphaFold |
Q80Y84 |
| PDB Structure |
Solution structure of the ARID domain of Jarid1b protein [SOLUTION NMR]
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000047714
AA Change: S977R
PolyPhen 2
Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000038138
Gene: ENSMUSG00000042207
AA Change: S977R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
30 |
N/A |
INTRINSIC |
|
JmjN
|
31 |
72 |
2.87e-20 |
SMART |
|
ARID
|
94 |
183 |
7.39e-32 |
SMART |
|
BRIGHT
|
98 |
188 |
1.51e-35 |
SMART |
|
low complexity region
|
228 |
239 |
N/A |
INTRINSIC |
|
PHD
|
311 |
357 |
6.15e-14 |
SMART |
|
JmjC
|
453 |
619 |
2.33e-67 |
SMART |
|
Pfam:zf-C5HC2
|
692 |
744 |
2.2e-17 |
PFAM |
|
Pfam:PLU-1
|
757 |
1088 |
5.6e-92 |
PFAM |
|
low complexity region
|
1097 |
1109 |
N/A |
INTRINSIC |
|
PHD
|
1178 |
1222 |
6.2e-10 |
SMART |
|
low complexity region
|
1225 |
1236 |
N/A |
INTRINSIC |
|
low complexity region
|
1406 |
1417 |
N/A |
INTRINSIC |
|
low complexity region
|
1470 |
1484 |
N/A |
INTRINSIC |
|
PHD
|
1486 |
1536 |
1.18e-6 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000112198
AA Change: S977R
PolyPhen 2
Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000107817
Gene: ENSMUSG00000042207
AA Change: S977R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
30 |
N/A |
INTRINSIC |
|
JmjN
|
31 |
72 |
2.87e-20 |
SMART |
|
ARID
|
94 |
183 |
7.39e-32 |
SMART |
|
BRIGHT
|
98 |
188 |
1.51e-35 |
SMART |
|
low complexity region
|
228 |
239 |
N/A |
INTRINSIC |
|
PHD
|
311 |
357 |
6.15e-14 |
SMART |
|
JmjC
|
453 |
619 |
2.33e-67 |
SMART |
|
Pfam:zf-C5HC2
|
692 |
745 |
6.7e-21 |
PFAM |
|
Pfam:PLU-1
|
756 |
1088 |
6e-94 |
PFAM |
|
low complexity region
|
1097 |
1109 |
N/A |
INTRINSIC |
|
PHD
|
1178 |
1222 |
6.2e-10 |
SMART |
|
low complexity region
|
1225 |
1236 |
N/A |
INTRINSIC |
|
low complexity region
|
1406 |
1417 |
N/A |
INTRINSIC |
|
low complexity region
|
1470 |
1484 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133725
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191572
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a lysine-specific histone demethylase that belongs to the jumonji/ARID domain-containing family of histone demethylases. The encoded protein is capable of demethylating tri-, di- and monomethylated lysine 4 of histone H3. This protein plays a role in the transcriptional repression or certain tumor suppressor genes and is upregulated in certain cancer cells. This protein may also play a role in genome stability and DNA repair. Homozygous mutant mice display decreased body weight, decreased female fertility, lower uterine weight, and a delay in mammary development. Knockout of this gene has also been associated with embryonic lethality. [provided by RefSeq, Dec 2016]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit decreased body weight, background-sensitive premature mortality, decreased female fertility, delayed mammary gland development, decreased serum estradiol levels, and reduced mammary epithelial cell proliferation in early puberty. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 89 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl3 |
A |
T |
4: 144,182,464 (GRCm39) |
S335T |
probably damaging |
Het |
| Abcb1b |
G |
A |
5: 8,914,238 (GRCm39) |
A1203T |
probably damaging |
Het |
| Acsbg3 |
T |
A |
17: 57,192,169 (GRCm39) |
Y577* |
probably null |
Het |
| Agt |
C |
A |
8: 125,283,839 (GRCm39) |
E427* |
probably null |
Het |
| Angel1 |
G |
A |
12: 86,769,681 (GRCm39) |
S193F |
probably benign |
Het |
| Ankrd16 |
T |
C |
2: 11,794,692 (GRCm39) |
V359A |
probably benign |
Het |
| Ankrd33b |
T |
C |
15: 31,367,432 (GRCm39) |
D36G |
probably damaging |
Het |
| Ano8 |
A |
T |
8: 71,931,902 (GRCm39) |
C766S |
probably benign |
Het |
| Asic1 |
C |
T |
15: 99,596,700 (GRCm39) |
R499C |
probably damaging |
Het |
| Atpsckmt |
T |
G |
15: 31,606,103 (GRCm39) |
S20R |
probably benign |
Het |
| Bank1 |
C |
T |
3: 135,919,703 (GRCm39) |
C364Y |
probably damaging |
Het |
| Bmerb1 |
T |
A |
16: 13,804,676 (GRCm39) |
S8T |
possibly damaging |
Het |
| Bpifa5 |
C |
A |
2: 154,008,869 (GRCm39) |
D223E |
probably benign |
Het |
| Capn5 |
C |
T |
7: 97,782,089 (GRCm39) |
R217Q |
probably damaging |
Het |
| Ccm2 |
G |
A |
11: 6,540,886 (GRCm39) |
S184N |
probably damaging |
Het |
| Ces5a |
T |
A |
8: 94,252,286 (GRCm39) |
D202V |
probably damaging |
Het |
| Clasrp |
A |
G |
7: 19,322,528 (GRCm39) |
I284T |
probably benign |
Het |
| Cog7 |
C |
A |
7: 121,540,392 (GRCm39) |
|
probably null |
Het |
| Col13a1 |
A |
T |
10: 61,698,525 (GRCm39) |
M512K |
unknown |
Het |
| Cps1 |
A |
C |
1: 67,254,723 (GRCm39) |
D1304A |
probably benign |
Het |
| Crhbp |
C |
A |
13: 95,580,403 (GRCm39) |
|
probably null |
Het |
| Ctdspl2 |
T |
A |
2: 121,837,368 (GRCm39) |
C377* |
probably null |
Het |
| Ctsl |
G |
A |
13: 64,513,032 (GRCm39) |
L297F |
possibly damaging |
Het |
| Ddost |
A |
G |
4: 138,038,046 (GRCm39) |
T262A |
probably benign |
Het |
| Ddx4 |
A |
T |
13: 112,761,313 (GRCm39) |
|
probably null |
Het |
| Ddx54 |
A |
G |
5: 120,764,927 (GRCm39) |
I769V |
probably benign |
Het |
| Dock1 |
T |
A |
7: 134,745,507 (GRCm39) |
I1463N |
probably benign |
Het |
| Dsg3 |
T |
A |
18: 20,660,872 (GRCm39) |
Y404N |
possibly damaging |
Het |
| Epb42 |
T |
A |
2: 120,859,631 (GRCm39) |
K186* |
probably null |
Het |
| Farp2 |
A |
G |
1: 93,504,543 (GRCm39) |
|
probably null |
Het |
| Fbxl9 |
A |
T |
8: 106,039,425 (GRCm39) |
L617Q |
probably damaging |
Het |
| Fev |
C |
A |
1: 74,921,692 (GRCm39) |
R86L |
possibly damaging |
Het |
| Foxb2 |
G |
T |
19: 16,849,820 (GRCm39) |
C395* |
probably null |
Het |
| Foxn3 |
A |
G |
12: 99,175,765 (GRCm39) |
V261A |
probably benign |
Het |
| Fsd1 |
A |
G |
17: 56,298,245 (GRCm39) |
D190G |
probably benign |
Het |
| Gm9930 |
A |
T |
10: 9,410,547 (GRCm39) |
|
noncoding transcript |
Het |
| Gsdma2 |
A |
T |
11: 98,545,727 (GRCm39) |
K260* |
probably null |
Het |
| Hdac7 |
G |
A |
15: 97,704,380 (GRCm39) |
Q497* |
probably null |
Het |
| Hic1 |
G |
A |
11: 75,057,713 (GRCm39) |
P392L |
possibly damaging |
Het |
| Hk3 |
C |
T |
13: 55,162,239 (GRCm39) |
|
probably null |
Het |
| Ifna6 |
G |
T |
4: 88,745,887 (GRCm39) |
V79F |
probably benign |
Het |
| Il20ra |
A |
T |
10: 19,635,388 (GRCm39) |
Q543L |
probably damaging |
Het |
| Itk |
T |
A |
11: 46,251,115 (GRCm39) |
D163V |
probably damaging |
Het |
| Kcnu1 |
T |
G |
8: 26,400,916 (GRCm39) |
L688R |
probably damaging |
Het |
| Kng1 |
G |
A |
16: 22,879,232 (GRCm39) |
A45T |
possibly damaging |
Het |
| Map1a |
T |
G |
2: 121,136,234 (GRCm39) |
L2350R |
probably damaging |
Het |
| Mdfic |
A |
G |
6: 15,799,755 (GRCm39) |
D212G |
probably benign |
Het |
| Ms4a1 |
C |
A |
19: 11,236,043 (GRCm39) |
|
probably null |
Het |
| Myo9a |
T |
A |
9: 59,801,635 (GRCm39) |
F1944L |
probably damaging |
Het |
| Nbea |
A |
T |
3: 55,915,689 (GRCm39) |
W928R |
probably damaging |
Het |
| Nfatc2ip |
T |
G |
7: 125,995,751 (GRCm39) |
D46A |
possibly damaging |
Het |
| Ngly1 |
C |
T |
14: 16,290,774 (GRCm38) |
Q419* |
probably null |
Het |
| Nsd2 |
T |
A |
5: 34,000,682 (GRCm39) |
N66K |
probably damaging |
Het |
| Nsmce4a |
T |
C |
7: 130,138,732 (GRCm39) |
H304R |
probably damaging |
Het |
| Odad2 |
G |
A |
18: 7,222,676 (GRCm39) |
P531L |
possibly damaging |
Het |
| Or10a2 |
T |
A |
7: 106,673,965 (GRCm39) |
L310Q |
possibly damaging |
Het |
| Or2y11 |
C |
T |
11: 49,443,291 (GRCm39) |
T239M |
probably damaging |
Het |
| Or4a2 |
T |
C |
2: 89,248,544 (GRCm39) |
Y71C |
probably damaging |
Het |
| Or51v8 |
T |
A |
7: 103,319,696 (GRCm39) |
I181F |
possibly damaging |
Het |
| Or7e168 |
G |
A |
9: 19,720,156 (GRCm39) |
V181I |
probably benign |
Het |
| Or8c20 |
A |
C |
9: 38,260,499 (GRCm39) |
N40T |
probably damaging |
Het |
| Or8h9 |
C |
T |
2: 86,789,190 (GRCm39) |
G204D |
probably damaging |
Het |
| Peg3 |
T |
C |
7: 6,714,427 (GRCm39) |
E265G |
probably damaging |
Het |
| Pkd1 |
A |
G |
17: 24,814,193 (GRCm39) |
S4188G |
probably benign |
Het |
| Pramel32 |
A |
T |
4: 88,547,559 (GRCm39) |
N37K |
probably damaging |
Het |
| R3hdm1 |
G |
A |
1: 128,121,440 (GRCm39) |
V315I |
probably benign |
Het |
| Rab24 |
A |
T |
13: 55,468,738 (GRCm39) |
|
probably null |
Het |
| Rap1gap2 |
A |
T |
11: 74,332,592 (GRCm39) |
M71K |
probably damaging |
Het |
| Rergl |
T |
G |
6: 139,473,524 (GRCm39) |
K42T |
probably damaging |
Het |
| Septin5 |
T |
C |
16: 18,443,647 (GRCm39) |
T92A |
probably benign |
Het |
| Setdb1 |
A |
G |
3: 95,246,140 (GRCm39) |
V595A |
probably benign |
Het |
| Slc17a8 |
A |
G |
10: 89,412,192 (GRCm39) |
S414P |
probably benign |
Het |
| Thnsl2 |
A |
T |
6: 71,111,243 (GRCm39) |
D208E |
probably damaging |
Het |
| Tie1 |
A |
C |
4: 118,333,343 (GRCm39) |
I841R |
probably damaging |
Het |
| Tll1 |
T |
G |
8: 64,551,505 (GRCm39) |
D292A |
probably damaging |
Het |
| Tnfaip8l1 |
A |
T |
17: 56,478,727 (GRCm39) |
T6S |
probably damaging |
Het |
| Trim17 |
T |
A |
11: 58,859,320 (GRCm39) |
V178E |
probably damaging |
Het |
| Ttc27 |
A |
T |
17: 75,163,544 (GRCm39) |
R717S |
possibly damaging |
Het |
| Upk2 |
G |
T |
9: 44,365,418 (GRCm39) |
P50Q |
probably damaging |
Het |
| Usp9y |
A |
T |
Y: 1,307,880 (GRCm39) |
C2319S |
probably benign |
Het |
| Vmn2r100 |
A |
T |
17: 19,742,178 (GRCm39) |
D184V |
probably damaging |
Het |
| Vmn2r9 |
C |
A |
5: 108,996,154 (GRCm39) |
G165* |
probably null |
Het |
| Xkr6 |
A |
T |
14: 64,056,871 (GRCm39) |
I261F |
probably benign |
Het |
| Xpnpep3 |
T |
G |
15: 81,311,693 (GRCm39) |
I133S |
possibly damaging |
Het |
| Yipf1 |
A |
G |
4: 107,193,387 (GRCm39) |
Y91C |
probably benign |
Het |
| Zfp442 |
T |
C |
2: 150,253,169 (GRCm39) |
D31G |
possibly damaging |
Het |
| Zfp628 |
A |
T |
7: 4,922,939 (GRCm39) |
Q387L |
probably damaging |
Het |
| Zfp804a |
C |
T |
2: 82,089,761 (GRCm39) |
Q1197* |
probably null |
Het |
| Zic2 |
CCCACCACCACCATCACCACCACCACC |
CCCACCATCACCACCACCACC |
14: 122,713,776 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Kdm5b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00230:Kdm5b
|
APN |
1 |
134,548,693 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01458:Kdm5b
|
APN |
1 |
134,549,724 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
IGL01567:Kdm5b
|
APN |
1 |
134,530,278 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01625:Kdm5b
|
APN |
1 |
134,545,706 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
IGL01970:Kdm5b
|
APN |
1 |
134,528,465 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02183:Kdm5b
|
APN |
1 |
134,552,669 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL02592:Kdm5b
|
APN |
1 |
134,552,591 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02695:Kdm5b
|
APN |
1 |
134,532,223 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02697:Kdm5b
|
APN |
1 |
134,516,511 (GRCm39) |
splice site |
probably benign |
|
|
IGL03036:Kdm5b
|
APN |
1 |
134,536,675 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03056:Kdm5b
|
APN |
1 |
134,515,717 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03206:Kdm5b
|
APN |
1 |
134,555,055 (GRCm39) |
missense |
probably benign |
|
|
IGL03342:Kdm5b
|
APN |
1 |
134,530,314 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03388:Kdm5b
|
APN |
1 |
134,555,060 (GRCm39) |
missense |
probably benign |
|
|
amaryllis
|
UTSW |
1 |
134,536,799 (GRCm39) |
critical splice donor site |
probably null |
|
|
PIT4486001:Kdm5b
|
UTSW |
1 |
134,556,423 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0233:Kdm5b
|
UTSW |
1 |
134,532,372 (GRCm39) |
splice site |
probably benign |
|
|
R0334:Kdm5b
|
UTSW |
1 |
134,532,260 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0504:Kdm5b
|
UTSW |
1 |
134,548,761 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0505:Kdm5b
|
UTSW |
1 |
134,530,309 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1004:Kdm5b
|
UTSW |
1 |
134,516,642 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R1087:Kdm5b
|
UTSW |
1 |
134,528,375 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1126:Kdm5b
|
UTSW |
1 |
134,541,729 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1221:Kdm5b
|
UTSW |
1 |
134,526,829 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1230:Kdm5b
|
UTSW |
1 |
134,540,992 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1345:Kdm5b
|
UTSW |
1 |
134,558,288 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1482:Kdm5b
|
UTSW |
1 |
134,552,635 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1582:Kdm5b
|
UTSW |
1 |
134,552,591 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1653:Kdm5b
|
UTSW |
1 |
134,530,219 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1693:Kdm5b
|
UTSW |
1 |
134,525,314 (GRCm39) |
splice site |
probably benign |
|
|
R1721:Kdm5b
|
UTSW |
1 |
134,540,919 (GRCm39) |
splice site |
probably benign |
|
|
R1741:Kdm5b
|
UTSW |
1 |
134,545,755 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1762:Kdm5b
|
UTSW |
1 |
134,532,205 (GRCm39) |
nonsense |
probably null |
|
|
R1820:Kdm5b
|
UTSW |
1 |
134,525,408 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1872:Kdm5b
|
UTSW |
1 |
134,552,732 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1966:Kdm5b
|
UTSW |
1 |
134,541,611 (GRCm39) |
splice site |
probably null |
|
|
R2056:Kdm5b
|
UTSW |
1 |
134,540,952 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2059:Kdm5b
|
UTSW |
1 |
134,540,952 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2405:Kdm5b
|
UTSW |
1 |
134,536,754 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3417:Kdm5b
|
UTSW |
1 |
134,515,715 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3771:Kdm5b
|
UTSW |
1 |
134,541,083 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3783:Kdm5b
|
UTSW |
1 |
134,558,280 (GRCm39) |
missense |
probably benign |
|
|
R3803:Kdm5b
|
UTSW |
1 |
134,543,679 (GRCm39) |
missense |
probably benign |
0.07 |
|
R3980:Kdm5b
|
UTSW |
1 |
134,547,408 (GRCm39) |
missense |
probably benign |
0.11 |
|
R3983:Kdm5b
|
UTSW |
1 |
134,559,042 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4013:Kdm5b
|
UTSW |
1 |
134,555,067 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4162:Kdm5b
|
UTSW |
1 |
134,552,899 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4701:Kdm5b
|
UTSW |
1 |
134,533,750 (GRCm39) |
intron |
probably benign |
|
|
R4791:Kdm5b
|
UTSW |
1 |
134,558,538 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4836:Kdm5b
|
UTSW |
1 |
134,521,053 (GRCm39) |
splice site |
probably null |
|
|
R4924:Kdm5b
|
UTSW |
1 |
134,559,089 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5135:Kdm5b
|
UTSW |
1 |
134,516,484 (GRCm39) |
intron |
probably benign |
|
|
R5248:Kdm5b
|
UTSW |
1 |
134,548,735 (GRCm39) |
missense |
probably benign |
0.11 |
|
R5290:Kdm5b
|
UTSW |
1 |
134,549,837 (GRCm39) |
splice site |
probably null |
|
|
R5358:Kdm5b
|
UTSW |
1 |
134,535,432 (GRCm39) |
nonsense |
probably null |
|
|
R5388:Kdm5b
|
UTSW |
1 |
134,536,635 (GRCm39) |
nonsense |
probably null |
|
|
R5396:Kdm5b
|
UTSW |
1 |
134,549,836 (GRCm39) |
splice site |
probably null |
|
|
R5397:Kdm5b
|
UTSW |
1 |
134,549,836 (GRCm39) |
splice site |
probably null |
|
|
R5398:Kdm5b
|
UTSW |
1 |
134,549,836 (GRCm39) |
splice site |
probably null |
|
|
R5399:Kdm5b
|
UTSW |
1 |
134,549,836 (GRCm39) |
splice site |
probably null |
|
|
R5529:Kdm5b
|
UTSW |
1 |
134,515,741 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5540:Kdm5b
|
UTSW |
1 |
134,558,979 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5661:Kdm5b
|
UTSW |
1 |
134,526,811 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5663:Kdm5b
|
UTSW |
1 |
134,558,373 (GRCm39) |
missense |
probably benign |
|
|
R5822:Kdm5b
|
UTSW |
1 |
134,516,511 (GRCm39) |
splice site |
probably benign |
|
|
R6226:Kdm5b
|
UTSW |
1 |
134,536,616 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6368:Kdm5b
|
UTSW |
1 |
134,526,945 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6681:Kdm5b
|
UTSW |
1 |
134,541,007 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6715:Kdm5b
|
UTSW |
1 |
134,536,799 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7132:Kdm5b
|
UTSW |
1 |
134,526,844 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7202:Kdm5b
|
UTSW |
1 |
134,552,497 (GRCm39) |
missense |
probably benign |
|
|
R7258:Kdm5b
|
UTSW |
1 |
134,548,759 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7335:Kdm5b
|
UTSW |
1 |
134,488,177 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7420:Kdm5b
|
UTSW |
1 |
134,532,235 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7426:Kdm5b
|
UTSW |
1 |
134,523,571 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7452:Kdm5b
|
UTSW |
1 |
134,552,686 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7595:Kdm5b
|
UTSW |
1 |
134,536,704 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7612:Kdm5b
|
UTSW |
1 |
134,552,656 (GRCm39) |
nonsense |
probably null |
|
|
R7704:Kdm5b
|
UTSW |
1 |
134,515,669 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7846:Kdm5b
|
UTSW |
1 |
134,545,578 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8115:Kdm5b
|
UTSW |
1 |
134,547,411 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R8146:Kdm5b
|
UTSW |
1 |
134,552,864 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8160:Kdm5b
|
UTSW |
1 |
134,541,657 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8527:Kdm5b
|
UTSW |
1 |
134,533,512 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R8542:Kdm5b
|
UTSW |
1 |
134,533,512 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R8930:Kdm5b
|
UTSW |
1 |
134,544,010 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8932:Kdm5b
|
UTSW |
1 |
134,544,010 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8950:Kdm5b
|
UTSW |
1 |
134,541,664 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R9089:Kdm5b
|
UTSW |
1 |
134,535,506 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9109:Kdm5b
|
UTSW |
1 |
134,528,493 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9133:Kdm5b
|
UTSW |
1 |
134,530,323 (GRCm39) |
missense |
probably benign |
|
|
R9298:Kdm5b
|
UTSW |
1 |
134,528,493 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9423:Kdm5b
|
UTSW |
1 |
134,515,705 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9630:Kdm5b
|
UTSW |
1 |
134,512,971 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9670:Kdm5b
|
UTSW |
1 |
134,558,240 (GRCm39) |
nonsense |
probably null |
|
|
X0063:Kdm5b
|
UTSW |
1 |
134,516,614 (GRCm39) |
missense |
probably benign |
0.07 |
|
Z1176:Kdm5b
|
UTSW |
1 |
134,552,773 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Kdm5b
|
UTSW |
1 |
134,523,536 (GRCm39) |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCTGGAAGAGGTTCAGCAGGCT -3'
(R):5'- CGCGTCAACTCTCAGACATTTGATTTG -3'
Sequencing Primer
(F):5'- CTTGCCTGGACTCCAGC -3'
(R):5'- acctcacactcacagcaatc -3'
|
| Posted On |
2013-06-12 |
Incidental Mutation