Incidental Mutation 'R6226:Kdm5b'
| ID |
504312 |
| 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 |
044397-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.451)
|
| Stock # |
R6226 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
134487916-134560621 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 134536616 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 612
(R612L)
|
| 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: R612L
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000038138
Gene: ENSMUSG00000042207
AA Change: R612L
| 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: R612L
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000107817
Gene: ENSMUSG00000042207
AA Change: R612L
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.3%
|
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn2 |
T |
C |
13: 12,293,853 (GRCm39) |
T62A |
probably benign |
Het |
| Adam33 |
G |
A |
2: 130,897,530 (GRCm39) |
T265I |
probably damaging |
Het |
| Afap1l2 |
T |
C |
19: 56,904,560 (GRCm39) |
T654A |
probably benign |
Het |
| Agrn |
A |
G |
4: 156,258,066 (GRCm39) |
S992P |
probably damaging |
Het |
| Anapc1 |
A |
G |
2: 128,492,292 (GRCm39) |
F939L |
probably damaging |
Het |
| Anks1 |
G |
A |
17: 28,276,304 (GRCm39) |
V1016I |
probably benign |
Het |
| Ankzf1 |
A |
G |
1: 75,173,238 (GRCm39) |
T401A |
probably benign |
Het |
| Atad1 |
G |
T |
19: 32,678,987 (GRCm39) |
D105E |
probably benign |
Het |
| Carmil2 |
A |
G |
8: 106,415,664 (GRCm39) |
T313A |
possibly damaging |
Het |
| Cdk15 |
T |
C |
1: 59,304,792 (GRCm39) |
V131A |
probably damaging |
Het |
| Cldnd1 |
A |
T |
16: 58,551,663 (GRCm39) |
|
probably null |
Het |
| Col16a1 |
A |
T |
4: 129,948,882 (GRCm39) |
|
probably benign |
Het |
| Cts3 |
T |
A |
13: 61,716,535 (GRCm39) |
I34L |
probably benign |
Het |
| Dnah7b |
A |
C |
1: 46,165,828 (GRCm39) |
K498Q |
probably benign |
Het |
| Dnase2b |
A |
G |
3: 146,290,318 (GRCm39) |
Y218H |
probably benign |
Het |
| Dsg2 |
T |
A |
18: 20,712,506 (GRCm39) |
V170D |
probably damaging |
Het |
| Dst |
T |
C |
1: 34,309,955 (GRCm39) |
V1543A |
probably damaging |
Het |
| Ell3 |
A |
T |
2: 121,272,258 (GRCm39) |
I72K |
probably damaging |
Het |
| Fank1 |
A |
G |
7: 133,463,927 (GRCm39) |
Y41C |
probably benign |
Het |
| Foxd3 |
T |
C |
4: 99,545,261 (GRCm39) |
Y134H |
probably damaging |
Het |
| Frmd6 |
A |
G |
12: 70,910,685 (GRCm39) |
|
probably benign |
Het |
| Gale |
A |
G |
4: 135,692,916 (GRCm39) |
E53G |
possibly damaging |
Het |
| Glis3 |
A |
G |
19: 28,294,702 (GRCm39) |
S699P |
probably damaging |
Het |
| Gm12830 |
T |
A |
4: 114,702,246 (GRCm39) |
M136K |
unknown |
Het |
| Grik3 |
T |
C |
4: 125,553,582 (GRCm39) |
V438A |
probably benign |
Het |
| Gsap |
A |
G |
5: 21,422,429 (GRCm39) |
N133D |
probably damaging |
Het |
| Gsg1 |
T |
A |
6: 135,217,110 (GRCm39) |
D239V |
probably damaging |
Het |
| H2-T10 |
A |
T |
17: 36,431,975 (GRCm39) |
W23R |
probably damaging |
Het |
| Itgae |
A |
G |
11: 73,031,583 (GRCm39) |
T1100A |
probably benign |
Het |
| Kcnh7 |
A |
T |
2: 62,607,903 (GRCm39) |
F559L |
probably damaging |
Het |
| Lrrc74a |
T |
A |
12: 86,795,231 (GRCm39) |
N253K |
possibly damaging |
Het |
| Mcm3ap |
A |
G |
10: 76,351,540 (GRCm39) |
H1961R |
possibly damaging |
Het |
| Ncam1 |
C |
T |
9: 49,476,304 (GRCm39) |
E262K |
probably benign |
Het |
| Nckap1 |
A |
G |
2: 80,339,125 (GRCm39) |
S968P |
possibly damaging |
Het |
| Nkapd1 |
T |
C |
9: 50,519,070 (GRCm39) |
T181A |
possibly damaging |
Het |
| Nr2f2 |
T |
G |
7: 70,009,744 (GRCm39) |
S112R |
probably benign |
Het |
| Nup93 |
T |
C |
8: 95,013,165 (GRCm39) |
W137R |
probably damaging |
Het |
| Or10ag53 |
A |
G |
2: 87,082,736 (GRCm39) |
S152G |
probably benign |
Het |
| Or2t26 |
A |
G |
11: 49,039,660 (GRCm39) |
D192G |
possibly damaging |
Het |
| Or4a78 |
A |
T |
2: 89,497,333 (GRCm39) |
L299H |
probably damaging |
Het |
| Or52n1 |
A |
T |
7: 104,383,243 (GRCm39) |
F109L |
probably damaging |
Het |
| Or8b12 |
T |
A |
9: 37,657,433 (GRCm39) |
M1K |
probably null |
Het |
| Or8b55 |
T |
C |
9: 38,727,666 (GRCm39) |
I289T |
probably damaging |
Het |
| Otogl |
A |
T |
10: 107,607,067 (GRCm39) |
Y2105* |
probably null |
Het |
| Pibf1 |
A |
G |
14: 99,338,555 (GRCm39) |
S24G |
probably damaging |
Het |
| Pitx2 |
C |
T |
3: 129,009,491 (GRCm39) |
R130W |
probably damaging |
Het |
| Pkd1l1 |
T |
C |
11: 8,851,287 (GRCm39) |
N715S |
probably benign |
Het |
| Pou6f2 |
A |
T |
13: 18,303,739 (GRCm39) |
I123N |
possibly damaging |
Het |
| Prss29 |
T |
A |
17: 25,539,513 (GRCm39) |
H35Q |
possibly damaging |
Het |
| Ptpn21 |
A |
G |
12: 98,646,375 (GRCm39) |
F1028L |
probably benign |
Het |
| Ptpn21 |
A |
T |
12: 98,681,431 (GRCm39) |
Y68N |
probably damaging |
Het |
| Ptprk |
A |
G |
10: 28,440,099 (GRCm39) |
T856A |
probably benign |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Rpl22l1 |
A |
G |
3: 28,860,676 (GRCm39) |
T13A |
possibly damaging |
Het |
| Rptn |
C |
G |
3: 93,305,437 (GRCm39) |
H923Q |
possibly damaging |
Het |
| Sec14l5 |
G |
A |
16: 4,994,429 (GRCm39) |
V408I |
probably damaging |
Het |
| Serpina5 |
T |
C |
12: 104,068,037 (GRCm39) |
S33P |
possibly damaging |
Het |
| Sgip1 |
A |
G |
4: 102,823,392 (GRCm39) |
N524S |
probably damaging |
Het |
| Shkbp1 |
C |
A |
7: 27,051,405 (GRCm39) |
R218M |
probably null |
Het |
| Sorcs1 |
T |
A |
19: 50,169,852 (GRCm39) |
I970F |
probably damaging |
Het |
| Spg11 |
A |
G |
2: 121,918,743 (GRCm39) |
V962A |
possibly damaging |
Het |
| Sptbn1 |
A |
G |
11: 30,086,054 (GRCm39) |
M1205T |
probably damaging |
Het |
| Sufu |
G |
A |
19: 46,462,093 (GRCm39) |
V369M |
probably damaging |
Het |
| Tmem98 |
T |
C |
11: 80,712,220 (GRCm39) |
F219S |
probably benign |
Het |
| Trim27 |
T |
C |
13: 21,365,086 (GRCm39) |
|
probably benign |
Het |
| Trim43b |
T |
C |
9: 88,973,328 (GRCm39) |
E135G |
possibly damaging |
Het |
| Ube2m |
A |
G |
7: 12,769,815 (GRCm39) |
V110A |
probably damaging |
Het |
| Ugt2b36 |
A |
G |
5: 87,239,989 (GRCm39) |
V132A |
probably damaging |
Het |
| Usp36 |
A |
T |
11: 118,168,100 (GRCm39) |
S86T |
probably damaging |
Het |
| Zfp941 |
A |
T |
7: 140,392,398 (GRCm39) |
D320E |
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 |
|
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 |
|
|
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'- TTTAGAGCACAACAATAGACCCAGG -3'
(R):5'- CACAGTTAATGACATGGAATTGGAC -3'
Sequencing Primer
(F):5'- CAGGGCTCTGGGAATCTGAGTC -3'
(R):5'- ACTTCCAGAAATCTTACCAATTTCCG -3'
|
| Posted On |
2018-02-28 |
Incidental Mutation