Incidental Mutation 'R0505:Kdm5b'
| ID |
47427 |
| 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 |
038700-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.451)
|
| Stock # |
R0505 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
134487916-134560621 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 134530309 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 440
(V440A)
|
| 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 |
probably damaging
Transcript: ENSMUST00000047714
AA Change: V440A
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000038138
Gene: ENSMUSG00000042207
AA Change: V440A
| 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 |
noncoding transcript
Transcript: ENSMUST00000112197
|
| SMART Domains |
Protein: ENSMUSP00000107816
Gene: ENSMUSG00000042207
| 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
|
225 |
236 |
N/A |
INTRINSIC |
|
PHD
|
308 |
354 |
6.15e-14 |
SMART |
|
JmjC
|
450 |
595 |
2.6e-24 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112198
AA Change: V440A
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000107817
Gene: ENSMUSG00000042207
AA Change: V440A
| 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 |
|
| Meta Mutation Damage Score |
0.1650 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.1%
|
| Validation Efficiency |
98% (119/121) |
| 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: 117 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
C |
11: 9,241,058 (GRCm39) |
Y974H |
probably benign |
Het |
| Abca2 |
G |
T |
2: 25,324,906 (GRCm39) |
G300V |
probably benign |
Het |
| Abi1 |
A |
G |
2: 22,852,516 (GRCm39) |
|
probably benign |
Het |
| Actr10 |
T |
A |
12: 71,006,738 (GRCm39) |
Y332N |
probably damaging |
Het |
| Adam25 |
G |
T |
8: 41,208,261 (GRCm39) |
C509F |
probably damaging |
Het |
| Adck1 |
A |
T |
12: 88,338,461 (GRCm39) |
|
probably benign |
Het |
| Adgra3 |
A |
G |
5: 50,166,676 (GRCm39) |
|
probably null |
Het |
| Adgrl1 |
G |
T |
8: 84,661,279 (GRCm39) |
|
probably benign |
Het |
| Akr1c21 |
A |
G |
13: 4,626,306 (GRCm39) |
Y110C |
probably damaging |
Het |
| Arhgef25 |
T |
C |
10: 127,019,566 (GRCm39) |
I463V |
probably null |
Het |
| Atp6v1e2 |
C |
T |
17: 87,252,006 (GRCm39) |
V131M |
probably benign |
Het |
| Bdnf |
A |
G |
2: 109,505,688 (GRCm39) |
|
probably null |
Het |
| Bltp3b |
T |
C |
10: 89,627,305 (GRCm39) |
S145P |
probably damaging |
Het |
| C7 |
A |
T |
15: 5,023,624 (GRCm39) |
|
probably benign |
Het |
| Cdc27 |
T |
C |
11: 104,419,114 (GRCm39) |
T273A |
probably benign |
Het |
| Cdo1 |
T |
A |
18: 46,848,678 (GRCm39) |
I187F |
probably benign |
Het |
| Cep104 |
A |
T |
4: 154,080,761 (GRCm39) |
T742S |
probably benign |
Het |
| Ckm |
A |
T |
7: 19,153,377 (GRCm39) |
K223* |
probably null |
Het |
| Cmtr1 |
C |
T |
17: 29,895,259 (GRCm39) |
P586L |
probably benign |
Het |
| Csmd1 |
C |
T |
8: 16,042,758 (GRCm39) |
R2325Q |
probably damaging |
Het |
| Dcpp1 |
A |
T |
17: 24,101,568 (GRCm39) |
I106L |
possibly damaging |
Het |
| Diaph3 |
A |
C |
14: 87,328,400 (GRCm39) |
|
probably benign |
Het |
| Dnah11 |
A |
G |
12: 118,070,245 (GRCm39) |
V1520A |
probably damaging |
Het |
| Dnajc25 |
T |
A |
4: 59,020,438 (GRCm39) |
M168K |
|
Het |
| Dpp3 |
T |
C |
19: 4,964,682 (GRCm39) |
N542D |
probably damaging |
Het |
| Ebf2 |
A |
T |
14: 67,609,185 (GRCm39) |
K199* |
probably null |
Het |
| Eeig2 |
T |
C |
3: 108,887,520 (GRCm39) |
E248G |
probably benign |
Het |
| Efcab11 |
T |
A |
12: 99,685,294 (GRCm39) |
Q160L |
probably benign |
Het |
| Eif2ak4 |
T |
A |
2: 118,261,517 (GRCm39) |
S686T |
probably benign |
Het |
| Epha6 |
C |
T |
16: 60,026,095 (GRCm39) |
S449N |
possibly damaging |
Het |
| Ercc4 |
T |
C |
16: 12,944,331 (GRCm39) |
V329A |
probably benign |
Het |
| Faf1 |
T |
C |
4: 109,697,600 (GRCm39) |
F309L |
possibly damaging |
Het |
| G6pd2 |
C |
A |
5: 61,966,910 (GRCm39) |
D228E |
probably benign |
Het |
| Ggt1 |
T |
G |
10: 75,421,791 (GRCm39) |
V546G |
probably damaging |
Het |
| Gpatch4 |
G |
T |
3: 87,958,524 (GRCm39) |
V3F |
probably damaging |
Het |
| Gprin3 |
A |
G |
6: 59,330,372 (GRCm39) |
L645P |
probably damaging |
Het |
| Hyal2 |
A |
G |
9: 107,449,270 (GRCm39) |
Y342C |
probably benign |
Het |
| Igf2bp2 |
A |
G |
16: 21,907,849 (GRCm39) |
I16T |
possibly damaging |
Het |
| Inca1 |
T |
C |
11: 70,581,025 (GRCm39) |
Y61C |
probably damaging |
Het |
| Ipo5 |
T |
C |
14: 121,180,145 (GRCm39) |
W860R |
possibly damaging |
Het |
| Kcnj9 |
C |
T |
1: 172,150,591 (GRCm39) |
A341T |
probably benign |
Het |
| L3mbtl1 |
C |
T |
2: 162,789,255 (GRCm39) |
|
probably benign |
Het |
| Lin54 |
G |
A |
5: 100,600,152 (GRCm39) |
T307I |
probably damaging |
Het |
| Lrrc18 |
C |
A |
14: 32,731,096 (GRCm39) |
Q212K |
probably benign |
Het |
| Lrrc37a |
A |
G |
11: 103,393,851 (GRCm39) |
S525P |
probably benign |
Het |
| Lrrc71 |
T |
A |
3: 87,653,006 (GRCm39) |
S137C |
probably damaging |
Het |
| Lrrk1 |
A |
T |
7: 65,940,656 (GRCm39) |
|
probably null |
Het |
| Man2b2 |
G |
A |
5: 36,973,542 (GRCm39) |
S58L |
probably benign |
Het |
| Masp1 |
T |
A |
16: 23,276,888 (GRCm39) |
H539L |
probably benign |
Het |
| Med1 |
G |
A |
11: 98,047,730 (GRCm39) |
P1022L |
probably damaging |
Het |
| Meis1 |
T |
A |
11: 18,961,360 (GRCm39) |
H171L |
probably damaging |
Het |
| Mier1 |
T |
A |
4: 103,012,820 (GRCm39) |
|
probably benign |
Het |
| Mmp13 |
A |
T |
9: 7,272,929 (GRCm39) |
R96S |
probably damaging |
Het |
| Mms19 |
G |
A |
19: 41,942,173 (GRCm39) |
T38I |
probably damaging |
Het |
| Mrc1 |
G |
A |
2: 14,314,843 (GRCm39) |
C976Y |
probably damaging |
Het |
| Mrtfb |
C |
T |
16: 13,230,390 (GRCm39) |
T1025I |
possibly damaging |
Het |
| Naalad2 |
A |
G |
9: 18,297,191 (GRCm39) |
Y32H |
probably benign |
Het |
| Ndufs1 |
A |
G |
1: 63,183,085 (GRCm39) |
|
probably benign |
Het |
| Nefm |
C |
T |
14: 68,361,608 (GRCm39) |
D219N |
probably damaging |
Het |
| Nwd1 |
C |
T |
8: 73,388,965 (GRCm39) |
P172L |
probably damaging |
Het |
| Nwd2 |
T |
A |
5: 63,962,454 (GRCm39) |
D679E |
probably damaging |
Het |
| Ogdh |
T |
A |
11: 6,289,936 (GRCm39) |
|
probably benign |
Het |
| Olfm3 |
T |
A |
3: 114,916,330 (GRCm39) |
S421T |
possibly damaging |
Het |
| Opn5 |
T |
G |
17: 42,903,844 (GRCm39) |
T164P |
possibly damaging |
Het |
| Or4k37 |
A |
T |
2: 111,159,673 (GRCm39) |
N303I |
probably benign |
Het |
| Or51a25 |
T |
A |
7: 102,373,236 (GRCm39) |
I154F |
probably damaging |
Het |
| Or52a24 |
T |
C |
7: 103,381,583 (GRCm39) |
V150A |
probably benign |
Het |
| Or5ak20 |
A |
G |
2: 85,184,093 (GRCm39) |
M59T |
possibly damaging |
Het |
| Or5b12b |
T |
C |
19: 12,861,443 (GRCm39) |
L66P |
probably damaging |
Het |
| Or5b12b |
A |
G |
19: 12,861,910 (GRCm39) |
T222A |
probably damaging |
Het |
| Pde7b |
C |
T |
10: 20,314,492 (GRCm39) |
V166M |
probably damaging |
Het |
| Peds1 |
A |
T |
2: 167,486,907 (GRCm39) |
|
probably benign |
Het |
| Pik3ap1 |
T |
C |
19: 41,313,003 (GRCm39) |
N370S |
probably damaging |
Het |
| Pkhd1l1 |
A |
T |
15: 44,452,814 (GRCm39) |
D3913V |
probably damaging |
Het |
| Pld1 |
A |
G |
3: 28,174,971 (GRCm39) |
I90V |
possibly damaging |
Het |
| Plxna2 |
A |
G |
1: 194,326,656 (GRCm39) |
T197A |
possibly damaging |
Het |
| Plxna4 |
A |
T |
6: 32,179,054 (GRCm39) |
M987K |
probably benign |
Het |
| Pmch |
A |
G |
10: 87,927,221 (GRCm39) |
N75D |
probably benign |
Het |
| Prom2 |
T |
A |
2: 127,374,787 (GRCm39) |
Q583L |
possibly damaging |
Het |
| Pyroxd1 |
T |
A |
6: 142,299,288 (GRCm39) |
M148K |
possibly damaging |
Het |
| R3hdm2 |
C |
T |
10: 127,293,569 (GRCm39) |
L158F |
probably damaging |
Het |
| Rapgef6 |
A |
T |
11: 54,516,789 (GRCm39) |
T349S |
probably benign |
Het |
| Rfx5 |
C |
T |
3: 94,863,666 (GRCm39) |
T105I |
probably damaging |
Het |
| Rif1 |
C |
A |
2: 52,000,749 (GRCm39) |
P1401Q |
probably damaging |
Het |
| Robo3 |
G |
A |
9: 37,328,055 (GRCm39) |
|
probably benign |
Het |
| Rpn1 |
T |
A |
6: 88,067,224 (GRCm39) |
S195T |
probably benign |
Het |
| Rslcan18 |
C |
A |
13: 67,250,183 (GRCm39) |
K17N |
probably benign |
Het |
| Rsph3b |
A |
T |
17: 7,209,126 (GRCm39) |
I48N |
probably damaging |
Het |
| Sbf2 |
A |
T |
7: 109,998,550 (GRCm39) |
Y628N |
probably damaging |
Het |
| Sis |
T |
C |
3: 72,867,629 (GRCm39) |
T139A |
probably benign |
Het |
| Slc22a14 |
A |
G |
9: 119,001,100 (GRCm39) |
|
probably benign |
Het |
| Slitrk6 |
A |
T |
14: 110,987,364 (GRCm39) |
L781H |
probably damaging |
Het |
| Smarcb1 |
T |
C |
10: 75,732,900 (GRCm39) |
T372A |
probably damaging |
Het |
| Spidr |
T |
A |
16: 15,855,531 (GRCm39) |
H328L |
probably damaging |
Het |
| Sun5 |
T |
A |
2: 153,712,872 (GRCm39) |
D16V |
probably damaging |
Het |
| Syde2 |
G |
A |
3: 145,720,135 (GRCm39) |
E1053K |
possibly damaging |
Het |
| Syne2 |
T |
C |
12: 76,146,238 (GRCm39) |
S6419P |
probably damaging |
Het |
| Tenm3 |
G |
A |
8: 48,794,195 (GRCm39) |
|
probably benign |
Het |
| Timm44 |
C |
A |
8: 4,310,532 (GRCm39) |
E407* |
probably null |
Het |
| Tnpo2 |
A |
G |
8: 85,773,991 (GRCm39) |
T342A |
probably benign |
Het |
| Trio |
A |
G |
15: 27,767,993 (GRCm39) |
C1964R |
probably benign |
Het |
| Trip11 |
A |
C |
12: 101,851,931 (GRCm39) |
L711R |
probably damaging |
Het |
| Trp53bp1 |
A |
T |
2: 121,100,450 (GRCm39) |
H101Q |
probably damaging |
Het |
| Trpm6 |
A |
G |
19: 18,851,266 (GRCm39) |
|
probably benign |
Het |
| Ttn |
A |
T |
2: 76,680,335 (GRCm39) |
|
probably benign |
Het |
| Ucp1 |
T |
A |
8: 84,021,936 (GRCm39) |
M256K |
possibly damaging |
Het |
| Unc5a |
T |
A |
13: 55,152,767 (GRCm39) |
S838T |
probably damaging |
Het |
| Uxs1 |
T |
C |
1: 43,804,046 (GRCm39) |
|
probably null |
Het |
| Vmn2r108 |
A |
T |
17: 20,683,096 (GRCm39) |
C703S |
possibly damaging |
Het |
| Zc3hav1 |
C |
T |
6: 38,309,599 (GRCm39) |
G408R |
probably damaging |
Het |
| Zfp1004 |
T |
A |
2: 150,035,000 (GRCm39) |
C471* |
probably null |
Het |
| Zfp609 |
G |
A |
9: 65,610,744 (GRCm39) |
L740F |
possibly damaging |
Het |
| Zfp69 |
T |
C |
4: 120,788,292 (GRCm39) |
E341G |
probably damaging |
Het |
| Zfp707 |
A |
T |
15: 75,847,105 (GRCm39) |
H312L |
probably damaging |
Het |
| Zfp773 |
T |
C |
7: 7,136,023 (GRCm39) |
D191G |
probably benign |
Het |
| Zgrf1 |
C |
A |
3: 127,366,887 (GRCm39) |
D755E |
probably benign |
Het |
| Zscan5b |
T |
A |
7: 6,242,074 (GRCm39) |
I431N |
probably damaging |
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 |
|
|
R0521:Kdm5b
|
UTSW |
1 |
134,545,771 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
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'- GTTGCCTGGATAGAGTTATTCACCTGTG -3'
(R):5'- ATTTCACTAACAATCCTCAAGGCTGCTG -3'
Sequencing Primer
(F):5'- GCTTAGAAGTTTATTCTGTGATTTCC -3'
(R):5'- AATCCTCAAGGCTGCTGTTCTTAG -3'
|
| Posted On |
2013-06-12 |
Incidental Mutation