Incidental Mutation 'R2059:Kdm5b'
| ID |
228431 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kdm5b
|
| Ensembl Gene |
ENSMUSG00000042207 |
| Gene Name |
lysine (K)-specific demethylase 5B |
| Synonyms |
Jarid1b, Plu1, Rb-Bp2, 2210016I17Rik, 2010009J12Rik, PLU-1, D1Ertd202e |
| MMRRC Submission |
040064-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.268)
|
| Stock # |
R2059 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
134560171-134635285 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 134613214 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 681
(D681E)
|
| 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 benign
Transcript: ENSMUST00000047714
AA Change: D681E
PolyPhen 2
Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000038138
Gene: ENSMUSG00000042207
AA Change: D681E
| 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 |
probably benign
Transcript: ENSMUST00000112198
AA Change: D681E
PolyPhen 2
Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000107817
Gene: ENSMUSG00000042207
AA Change: D681E
| 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: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.5%
|
| Validation Efficiency |
99% (99/100) |
| 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: 97 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210010C04Rik |
G |
A |
6: 41,032,381 (GRCm38) |
T173I |
probably benign |
Het |
| Adgrf3 |
G |
A |
5: 30,199,491 (GRCm38) |
H316Y |
possibly damaging |
Het |
| Adgrf5 |
A |
G |
17: 43,428,586 (GRCm38) |
Y72C |
possibly damaging |
Het |
| Ak5 |
T |
A |
3: 152,660,637 (GRCm38) |
L42F |
probably damaging |
Het |
| Alas1 |
T |
C |
9: 106,241,290 (GRCm38) |
E211G |
probably damaging |
Het |
| Alkbh1 |
C |
T |
12: 87,443,750 (GRCm38) |
|
probably benign |
Het |
| Als2cl |
T |
C |
9: 110,885,438 (GRCm38) |
V118A |
probably benign |
Het |
| Ano1 |
G |
C |
7: 144,611,390 (GRCm38) |
L641V |
probably damaging |
Het |
| Arfgef1 |
C |
T |
1: 10,188,752 (GRCm38) |
|
probably null |
Het |
| Atf6b |
A |
T |
17: 34,648,575 (GRCm38) |
|
probably null |
Het |
| Atf7ip |
T |
G |
6: 136,609,348 (GRCm38) |
|
probably benign |
Het |
| Atp2b4 |
G |
T |
1: 133,726,537 (GRCm38) |
Q777K |
probably benign |
Het |
| Baz2a |
T |
A |
10: 128,113,578 (GRCm38) |
S347R |
probably damaging |
Het |
| C2cd3 |
T |
C |
7: 100,455,493 (GRCm38) |
|
probably benign |
Het |
| Cage1 |
A |
G |
13: 38,023,380 (GRCm38) |
V163A |
probably benign |
Het |
| Cdh12 |
T |
A |
15: 21,583,740 (GRCm38) |
N555K |
probably benign |
Het |
| Cenpj |
G |
A |
14: 56,563,955 (GRCm38) |
P187L |
possibly damaging |
Het |
| Cep112 |
T |
A |
11: 108,519,261 (GRCm38) |
|
probably null |
Het |
| Cfap54 |
A |
T |
10: 92,942,979 (GRCm38) |
|
probably benign |
Het |
| Cgref1 |
T |
G |
5: 30,933,645 (GRCm38) |
D275A |
possibly damaging |
Het |
| Clgn |
A |
C |
8: 83,399,978 (GRCm38) |
N103H |
probably benign |
Het |
| Corin |
A |
G |
5: 72,316,051 (GRCm38) |
V905A |
possibly damaging |
Het |
| Csta1 |
A |
C |
16: 36,122,322 (GRCm38) |
D72E |
probably benign |
Het |
| Cul5 |
A |
T |
9: 53,667,156 (GRCm38) |
L44Q |
probably damaging |
Het |
| Dmbt1 |
G |
A |
7: 131,106,170 (GRCm38) |
A1381T |
possibly damaging |
Het |
| Dync1i2 |
G |
A |
2: 71,249,853 (GRCm38) |
|
probably null |
Het |
| Enoph1 |
A |
G |
5: 100,059,219 (GRCm38) |
D55G |
probably damaging |
Het |
| Fam160b2 |
A |
G |
14: 70,585,049 (GRCm38) |
V744A |
possibly damaging |
Het |
| Fat4 |
T |
A |
3: 38,891,170 (GRCm38) |
M1404K |
possibly damaging |
Het |
| Foxi2 |
G |
T |
7: 135,410,677 (GRCm38) |
G98V |
probably damaging |
Het |
| Galr2 |
T |
C |
11: 116,282,939 (GRCm38) |
S132P |
probably damaging |
Het |
| Gcm2 |
T |
C |
13: 41,109,954 (GRCm38) |
M1V |
probably null |
Het |
| Gm15446 |
C |
T |
5: 109,942,496 (GRCm38) |
H205Y |
probably damaging |
Het |
| Gm21775 |
T |
A |
Y: 10,553,910 (GRCm38) |
I153N |
probably benign |
Het |
| Grip1 |
A |
G |
10: 120,038,698 (GRCm38) |
K789R |
possibly damaging |
Het |
| Gsk3b |
T |
A |
16: 38,187,909 (GRCm38) |
D192E |
probably benign |
Het |
| Herc2 |
T |
A |
7: 56,163,897 (GRCm38) |
H2625Q |
probably damaging |
Het |
| Hoxc9 |
A |
G |
15: 102,984,123 (GRCm38) |
D256G |
probably benign |
Het |
| Il7 |
A |
T |
3: 7,573,915 (GRCm38) |
N130K |
probably damaging |
Het |
| Irf2 |
A |
T |
8: 46,807,345 (GRCm38) |
N104I |
probably damaging |
Het |
| Kat6a |
A |
G |
8: 22,939,305 (GRCm38) |
N1559D |
possibly damaging |
Het |
| Kcnq4 |
G |
T |
4: 120,698,002 (GRCm38) |
F661L |
probably benign |
Het |
| Khdrbs1 |
T |
C |
4: 129,725,721 (GRCm38) |
E209G |
probably damaging |
Het |
| Lama3 |
A |
T |
18: 12,528,333 (GRCm38) |
R2116S |
probably damaging |
Het |
| Mir124-2hg |
C |
A |
3: 17,785,713 (GRCm38) |
E65* |
probably null |
Het |
| Mphosph10 |
T |
A |
7: 64,376,751 (GRCm38) |
L650F |
probably damaging |
Het |
| Mrpl48 |
T |
C |
7: 100,549,333 (GRCm38) |
E204G |
probably damaging |
Het |
| Msl3l2 |
T |
A |
10: 56,115,944 (GRCm38) |
L255Q |
probably damaging |
Het |
| Mx1 |
T |
A |
16: 97,454,179 (GRCm38) |
K225* |
probably null |
Het |
| Nf1 |
T |
C |
11: 79,556,723 (GRCm38) |
V435A |
probably damaging |
Het |
| Nid1 |
A |
C |
13: 13,500,473 (GRCm38) |
H926P |
probably benign |
Het |
| Nlrp9a |
T |
A |
7: 26,557,362 (GRCm38) |
I46K |
possibly damaging |
Het |
| Nop2 |
T |
A |
6: 125,139,860 (GRCm38) |
M359K |
probably null |
Het |
| Nox1 |
T |
C |
X: 134,095,244 (GRCm38) |
|
probably benign |
Het |
| Ogdhl |
G |
A |
14: 32,332,884 (GRCm38) |
R263K |
probably damaging |
Het |
| Olfr1388 |
T |
A |
11: 49,444,451 (GRCm38) |
V200E |
probably damaging |
Het |
| Olfr293 |
A |
T |
7: 86,664,383 (GRCm38) |
K240N |
probably damaging |
Het |
| Pbsn |
T |
C |
X: 77,847,976 (GRCm38) |
K72E |
probably damaging |
Het |
| Pde12 |
T |
C |
14: 26,668,880 (GRCm38) |
I225V |
probably benign |
Het |
| Ppt2 |
A |
T |
17: 34,622,844 (GRCm38) |
|
probably benign |
Het |
| Prl3a1 |
A |
G |
13: 27,270,144 (GRCm38) |
D35G |
probably benign |
Het |
| Ptprk |
T |
A |
10: 28,566,603 (GRCm38) |
I893N |
probably damaging |
Het |
| Ptprz1 |
T |
C |
6: 22,986,323 (GRCm38) |
|
probably benign |
Het |
| Rab3c |
A |
G |
13: 110,260,516 (GRCm38) |
V72A |
probably damaging |
Het |
| Rbms2 |
A |
G |
10: 128,137,518 (GRCm38) |
S251P |
probably benign |
Het |
| Rfwd3 |
A |
G |
8: 111,297,495 (GRCm38) |
V65A |
probably benign |
Het |
| Rps6kl1 |
T |
A |
12: 85,139,623 (GRCm38) |
Y211F |
probably benign |
Het |
| Saal1 |
T |
C |
7: 46,699,456 (GRCm38) |
Q317R |
probably damaging |
Het |
| Scg3 |
T |
C |
9: 75,665,716 (GRCm38) |
D311G |
probably damaging |
Het |
| Sdk2 |
C |
A |
11: 113,854,332 (GRCm38) |
M712I |
probably damaging |
Het |
| Serinc2 |
T |
G |
4: 130,260,785 (GRCm38) |
Y158S |
probably damaging |
Het |
| Serpinb9c |
A |
T |
13: 33,156,871 (GRCm38) |
C81* |
probably null |
Het |
| Sgpp2 |
T |
A |
1: 78,416,951 (GRCm38) |
L197Q |
probably damaging |
Het |
| Shroom3 |
A |
T |
5: 92,683,784 (GRCm38) |
T40S |
probably damaging |
Het |
| Sik1 |
A |
G |
17: 31,848,797 (GRCm38) |
S435P |
probably benign |
Het |
| Slc7a3 |
A |
G |
X: 101,080,767 (GRCm38) |
V464A |
probably benign |
Het |
| Snd1 |
T |
C |
6: 28,745,207 (GRCm38) |
F517S |
probably damaging |
Het |
| Spata13 |
A |
C |
14: 60,759,591 (GRCm38) |
I1165L |
possibly damaging |
Het |
| St8sia5 |
A |
T |
18: 77,254,763 (GRCm38) |
I390F |
probably damaging |
Het |
| Stat5b |
A |
T |
11: 100,787,332 (GRCm38) |
S652T |
probably benign |
Het |
| Stom |
A |
G |
2: 35,316,025 (GRCm38) |
S231P |
probably damaging |
Het |
| Sult1b1 |
A |
G |
5: 87,535,033 (GRCm38) |
Y18H |
probably damaging |
Het |
| Tgm4 |
T |
C |
9: 123,061,770 (GRCm38) |
I54T |
probably damaging |
Het |
| Tmem176b |
G |
A |
6: 48,836,333 (GRCm38) |
T64I |
probably damaging |
Het |
| Tmem87a |
A |
T |
2: 120,369,292 (GRCm38) |
I457N |
probably damaging |
Het |
| Trim12c |
A |
G |
7: 104,348,191 (GRCm38) |
F53L |
possibly damaging |
Het |
| Ttc6 |
T |
A |
12: 57,737,693 (GRCm38) |
D1849E |
probably benign |
Het |
| Ubap2l |
A |
T |
3: 90,031,376 (GRCm38) |
|
probably benign |
Het |
| Ush2a |
T |
G |
1: 188,381,549 (GRCm38) |
|
probably null |
Het |
| Usp17la |
A |
C |
7: 104,861,171 (GRCm38) |
T328P |
probably damaging |
Het |
| Ust |
A |
G |
10: 8,207,566 (GRCm38) |
Y349H |
probably damaging |
Het |
| V1rd19 |
A |
T |
7: 24,003,834 (GRCm38) |
M242L |
probably benign |
Het |
| Vmn1r33 |
T |
A |
6: 66,612,202 (GRCm38) |
M123L |
probably benign |
Het |
| Vps13c |
A |
T |
9: 67,860,833 (GRCm38) |
K111N |
probably damaging |
Het |
| Vwa3a |
A |
G |
7: 120,758,949 (GRCm38) |
D81G |
probably damaging |
Het |
| Zfp318 |
G |
A |
17: 46,397,024 (GRCm38) |
R336Q |
probably damaging |
Het |
| Zfp609 |
A |
G |
9: 65,704,434 (GRCm38) |
S416P |
possibly damaging |
Het |
|
| Other mutations in Kdm5b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00230:Kdm5b
|
APN |
1 |
134,620,955 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01458:Kdm5b
|
APN |
1 |
134,621,986 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
IGL01567:Kdm5b
|
APN |
1 |
134,602,540 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01625:Kdm5b
|
APN |
1 |
134,617,968 (GRCm38) |
missense |
possibly damaging |
0.74 |
|
IGL01970:Kdm5b
|
APN |
1 |
134,600,727 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02183:Kdm5b
|
APN |
1 |
134,624,931 (GRCm38) |
missense |
probably benign |
0.09 |
|
IGL02592:Kdm5b
|
APN |
1 |
134,624,853 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02695:Kdm5b
|
APN |
1 |
134,604,485 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
IGL02697:Kdm5b
|
APN |
1 |
134,588,773 (GRCm38) |
splice site |
probably benign |
|
|
IGL03036:Kdm5b
|
APN |
1 |
134,608,937 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03056:Kdm5b
|
APN |
1 |
134,587,979 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL03206:Kdm5b
|
APN |
1 |
134,627,317 (GRCm38) |
missense |
probably benign |
|
|
IGL03342:Kdm5b
|
APN |
1 |
134,602,576 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL03388:Kdm5b
|
APN |
1 |
134,627,322 (GRCm38) |
missense |
probably benign |
|
|
amaryllis
|
UTSW |
1 |
134,609,061 (GRCm38) |
critical splice donor site |
probably null |
|
|
PIT4486001:Kdm5b
|
UTSW |
1 |
134,628,685 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0233:Kdm5b
|
UTSW |
1 |
134,604,634 (GRCm38) |
splice site |
probably benign |
|
|
R0334:Kdm5b
|
UTSW |
1 |
134,604,522 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0504:Kdm5b
|
UTSW |
1 |
134,621,023 (GRCm38) |
critical splice donor site |
probably null |
|
|
R0505:Kdm5b
|
UTSW |
1 |
134,602,571 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R0521:Kdm5b
|
UTSW |
1 |
134,618,033 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R1004:Kdm5b
|
UTSW |
1 |
134,588,904 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
R1087:Kdm5b
|
UTSW |
1 |
134,600,637 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1126:Kdm5b
|
UTSW |
1 |
134,613,991 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R1221:Kdm5b
|
UTSW |
1 |
134,599,091 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1230:Kdm5b
|
UTSW |
1 |
134,613,254 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1345:Kdm5b
|
UTSW |
1 |
134,630,550 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R1482:Kdm5b
|
UTSW |
1 |
134,624,897 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1582:Kdm5b
|
UTSW |
1 |
134,624,853 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1653:Kdm5b
|
UTSW |
1 |
134,602,481 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1693:Kdm5b
|
UTSW |
1 |
134,597,576 (GRCm38) |
splice site |
probably benign |
|
|
R1721:Kdm5b
|
UTSW |
1 |
134,613,181 (GRCm38) |
splice site |
probably benign |
|
|
R1741:Kdm5b
|
UTSW |
1 |
134,618,017 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R1762:Kdm5b
|
UTSW |
1 |
134,604,467 (GRCm38) |
nonsense |
probably null |
|
|
R1820:Kdm5b
|
UTSW |
1 |
134,597,670 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R1872:Kdm5b
|
UTSW |
1 |
134,624,994 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1966:Kdm5b
|
UTSW |
1 |
134,613,873 (GRCm38) |
splice site |
probably null |
|
|
R2056:Kdm5b
|
UTSW |
1 |
134,613,214 (GRCm38) |
missense |
probably benign |
0.05 |
|
R2405:Kdm5b
|
UTSW |
1 |
134,609,016 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R3417:Kdm5b
|
UTSW |
1 |
134,587,977 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3771:Kdm5b
|
UTSW |
1 |
134,613,345 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3783:Kdm5b
|
UTSW |
1 |
134,630,542 (GRCm38) |
missense |
probably benign |
|
|
R3803:Kdm5b
|
UTSW |
1 |
134,615,941 (GRCm38) |
missense |
probably benign |
0.07 |
|
R3980:Kdm5b
|
UTSW |
1 |
134,619,670 (GRCm38) |
missense |
probably benign |
0.11 |
|
R3983:Kdm5b
|
UTSW |
1 |
134,631,304 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R4013:Kdm5b
|
UTSW |
1 |
134,627,329 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R4162:Kdm5b
|
UTSW |
1 |
134,625,161 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4701:Kdm5b
|
UTSW |
1 |
134,606,012 (GRCm38) |
intron |
probably benign |
|
|
R4791:Kdm5b
|
UTSW |
1 |
134,630,800 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R4836:Kdm5b
|
UTSW |
1 |
134,593,315 (GRCm38) |
splice site |
probably null |
|
|
R4924:Kdm5b
|
UTSW |
1 |
134,631,351 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5135:Kdm5b
|
UTSW |
1 |
134,588,746 (GRCm38) |
intron |
probably benign |
|
|
R5248:Kdm5b
|
UTSW |
1 |
134,620,997 (GRCm38) |
missense |
probably benign |
0.11 |
|
R5290:Kdm5b
|
UTSW |
1 |
134,622,099 (GRCm38) |
splice site |
probably null |
|
|
R5358:Kdm5b
|
UTSW |
1 |
134,607,694 (GRCm38) |
nonsense |
probably null |
|
|
R5388:Kdm5b
|
UTSW |
1 |
134,608,897 (GRCm38) |
nonsense |
probably null |
|
|
R5396:Kdm5b
|
UTSW |
1 |
134,622,098 (GRCm38) |
splice site |
probably null |
|
|
R5397:Kdm5b
|
UTSW |
1 |
134,622,098 (GRCm38) |
splice site |
probably null |
|
|
R5398:Kdm5b
|
UTSW |
1 |
134,622,098 (GRCm38) |
splice site |
probably null |
|
|
R5399:Kdm5b
|
UTSW |
1 |
134,622,098 (GRCm38) |
splice site |
probably null |
|
|
R5529:Kdm5b
|
UTSW |
1 |
134,588,003 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5540:Kdm5b
|
UTSW |
1 |
134,631,241 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5661:Kdm5b
|
UTSW |
1 |
134,599,073 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5663:Kdm5b
|
UTSW |
1 |
134,630,635 (GRCm38) |
missense |
probably benign |
|
|
R5822:Kdm5b
|
UTSW |
1 |
134,588,773 (GRCm38) |
splice site |
probably benign |
|
|
R6226:Kdm5b
|
UTSW |
1 |
134,608,878 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6368:Kdm5b
|
UTSW |
1 |
134,599,207 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6681:Kdm5b
|
UTSW |
1 |
134,613,269 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R6715:Kdm5b
|
UTSW |
1 |
134,609,061 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7132:Kdm5b
|
UTSW |
1 |
134,599,106 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7202:Kdm5b
|
UTSW |
1 |
134,624,759 (GRCm38) |
missense |
probably benign |
|
|
R7258:Kdm5b
|
UTSW |
1 |
134,621,021 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7335:Kdm5b
|
UTSW |
1 |
134,560,439 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7420:Kdm5b
|
UTSW |
1 |
134,604,497 (GRCm38) |
missense |
probably benign |
0.14 |
|
R7426:Kdm5b
|
UTSW |
1 |
134,595,833 (GRCm38) |
missense |
probably benign |
0.02 |
|
R7452:Kdm5b
|
UTSW |
1 |
134,624,948 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7595:Kdm5b
|
UTSW |
1 |
134,608,966 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7612:Kdm5b
|
UTSW |
1 |
134,624,918 (GRCm38) |
nonsense |
probably null |
|
|
R7704:Kdm5b
|
UTSW |
1 |
134,587,931 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7846:Kdm5b
|
UTSW |
1 |
134,617,840 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8115:Kdm5b
|
UTSW |
1 |
134,619,673 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R8146:Kdm5b
|
UTSW |
1 |
134,625,126 (GRCm38) |
missense |
probably benign |
0.05 |
|
R8160:Kdm5b
|
UTSW |
1 |
134,613,919 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8527:Kdm5b
|
UTSW |
1 |
134,605,774 (GRCm38) |
missense |
possibly damaging |
0.78 |
|
R8542:Kdm5b
|
UTSW |
1 |
134,605,774 (GRCm38) |
missense |
possibly damaging |
0.78 |
|
R8930:Kdm5b
|
UTSW |
1 |
134,616,272 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8932:Kdm5b
|
UTSW |
1 |
134,616,272 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8950:Kdm5b
|
UTSW |
1 |
134,613,926 (GRCm38) |
missense |
possibly damaging |
0.84 |
|
R9089:Kdm5b
|
UTSW |
1 |
134,607,768 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R9109:Kdm5b
|
UTSW |
1 |
134,600,755 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9133:Kdm5b
|
UTSW |
1 |
134,602,585 (GRCm38) |
missense |
probably benign |
|
|
R9298:Kdm5b
|
UTSW |
1 |
134,600,755 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9423:Kdm5b
|
UTSW |
1 |
134,587,967 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R9630:Kdm5b
|
UTSW |
1 |
134,585,233 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9670:Kdm5b
|
UTSW |
1 |
134,630,502 (GRCm38) |
nonsense |
probably null |
|
|
X0063:Kdm5b
|
UTSW |
1 |
134,588,876 (GRCm38) |
missense |
probably benign |
0.07 |
|
Z1176:Kdm5b
|
UTSW |
1 |
134,625,035 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1177:Kdm5b
|
UTSW |
1 |
134,595,798 (GRCm38) |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCCTCATCCAAAGAAGGATTCTC -3'
(R):5'- AACTCATCCTTACTTACCGCAG -3'
Sequencing Primer
(F):5'- TCTGTCTTCAGATACGCTAGAAGAGG -3'
(R):5'- CGCAGGTTATACTTATACGGGG -3'
|
| Posted On |
2014-09-17 |
Incidental Mutation