Incidental Mutation 'R7426:Kdm5b'
| ID |
576034 |
| 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 |
045504-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.451)
|
| Stock # |
R7426 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
134487916-134560621 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 134523571 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 249
(T249S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038138
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047714]
[ENSMUST00000112198]
|
| AlphaFold |
Q80Y84 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047714
AA Change: T249S
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000038138
Gene: ENSMUSG00000042207
AA Change: T249S
| 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: T249S
PolyPhen 2
Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000107817
Gene: ENSMUSG00000042207
AA Change: T249S
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
97% (114/118) |
| 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 |
|---|
| Abca15 |
C |
A |
7: 119,945,221 (GRCm39) |
N432K |
possibly damaging |
Het |
| Abitram |
A |
G |
4: 56,804,230 (GRCm39) |
I82V |
probably null |
Het |
| Adamtsl5 |
G |
A |
10: 80,180,693 (GRCm39) |
T123I |
probably benign |
Het |
| Aff4 |
T |
C |
11: 53,263,702 (GRCm39) |
S241P |
probably damaging |
Het |
| Agl |
A |
G |
3: 116,552,404 (GRCm39) |
L510P |
|
Het |
| Aox1 |
A |
T |
1: 58,329,142 (GRCm39) |
K196* |
probably null |
Het |
| Arhgef37 |
A |
G |
18: 61,637,456 (GRCm39) |
L402P |
probably damaging |
Het |
| Arid4b |
T |
C |
13: 14,355,891 (GRCm39) |
|
probably null |
Het |
| Atp5pb |
A |
G |
3: 105,851,118 (GRCm39) |
V193A |
probably benign |
Het |
| Atp8b3 |
A |
G |
10: 80,365,463 (GRCm39) |
|
probably null |
Het |
| Baz2a |
G |
T |
10: 127,951,947 (GRCm39) |
R555L |
probably damaging |
Het |
| Casp4 |
G |
T |
9: 5,321,345 (GRCm39) |
S32I |
possibly damaging |
Het |
| Cd300lb |
A |
G |
11: 114,819,128 (GRCm39) |
V167A |
probably damaging |
Het |
| Cdc42bpg |
C |
T |
19: 6,368,428 (GRCm39) |
T1042I |
probably damaging |
Het |
| Ceacam20 |
T |
C |
7: 19,704,159 (GRCm39) |
F70S |
probably damaging |
Het |
| Cep162 |
C |
T |
9: 87,074,819 (GRCm39) |
V1388I |
probably damaging |
Het |
| Cfap65 |
A |
G |
1: 74,959,585 (GRCm39) |
V855A |
possibly damaging |
Het |
| Chil3 |
G |
T |
3: 106,063,022 (GRCm39) |
D189E |
probably benign |
Het |
| Cln3 |
A |
G |
7: 126,180,912 (GRCm39) |
I43T |
probably benign |
Het |
| Cntnap5a |
A |
G |
1: 116,370,110 (GRCm39) |
Q909R |
probably benign |
Het |
| Ctsd |
C |
A |
7: 141,937,278 (GRCm39) |
A77S |
probably damaging |
Het |
| Dnah12 |
T |
A |
14: 26,445,781 (GRCm39) |
S781T |
probably benign |
Het |
| Dnah17 |
T |
A |
11: 117,981,543 (GRCm39) |
Q1716L |
probably null |
Het |
| Dock3 |
C |
A |
9: 106,772,782 (GRCm39) |
M490I |
probably benign |
Het |
| Erg |
T |
C |
16: 95,260,015 (GRCm39) |
|
probably null |
Het |
| Farp2 |
A |
T |
1: 93,548,950 (GRCm39) |
M1019L |
possibly damaging |
Het |
| Fcgbp |
A |
G |
7: 27,785,949 (GRCm39) |
K462R |
probably benign |
Het |
| Fn1 |
A |
T |
1: 71,688,384 (GRCm39) |
N173K |
probably damaging |
Het |
| Fsip2 |
A |
T |
2: 82,810,441 (GRCm39) |
L2253F |
probably damaging |
Het |
| Gabrd |
C |
T |
4: 155,469,970 (GRCm39) |
R413H |
possibly damaging |
Het |
| Galnt5 |
A |
T |
2: 57,907,151 (GRCm39) |
D538V |
probably damaging |
Het |
| Gje1 |
T |
A |
10: 14,592,223 (GRCm39) |
L186F |
probably damaging |
Het |
| Gm16686 |
A |
T |
4: 88,673,563 (GRCm39) |
C89S |
unknown |
Het |
| Gna15 |
G |
T |
10: 81,338,831 (GRCm39) |
A336E |
probably benign |
Het |
| Golga4 |
C |
T |
9: 118,388,563 (GRCm39) |
S1895L |
probably benign |
Het |
| Gon4l |
A |
T |
3: 88,814,829 (GRCm39) |
M1933L |
probably benign |
Het |
| Gpr183 |
T |
C |
14: 122,192,156 (GRCm39) |
S122G |
possibly damaging |
Het |
| Gtf2h4 |
G |
A |
17: 35,980,250 (GRCm39) |
T348I |
probably damaging |
Het |
| Hace1 |
T |
C |
10: 45,481,636 (GRCm39) |
Y120H |
probably damaging |
Het |
| Hivep2 |
C |
T |
10: 14,007,061 (GRCm39) |
H1220Y |
possibly damaging |
Het |
| Hmx2 |
T |
C |
7: 131,156,232 (GRCm39) |
F66S |
probably benign |
Het |
| Hoxd12 |
A |
T |
2: 74,505,569 (GRCm39) |
S47C |
possibly damaging |
Het |
| Hp |
C |
A |
8: 110,301,832 (GRCm39) |
|
probably null |
Het |
| Idh3a |
T |
A |
9: 54,508,492 (GRCm39) |
D355E |
probably benign |
Het |
| Itga2b |
A |
T |
11: 102,347,120 (GRCm39) |
M921K |
probably benign |
Het |
| Jcad |
A |
G |
18: 4,675,529 (GRCm39) |
D1097G |
probably benign |
Het |
| Klhl11 |
G |
T |
11: 100,355,178 (GRCm39) |
H214Q |
probably benign |
Het |
| L3hypdh |
A |
T |
12: 72,131,705 (GRCm39) |
Y76N |
probably damaging |
Het |
| Lama4 |
G |
T |
10: 38,921,751 (GRCm39) |
R424L |
possibly damaging |
Het |
| Lepr |
A |
G |
4: 101,602,853 (GRCm39) |
I214V |
probably benign |
Het |
| Lipc |
G |
T |
9: 70,709,450 (GRCm39) |
N432K |
probably benign |
Het |
| Lipm |
C |
T |
19: 34,093,598 (GRCm39) |
A216V |
possibly damaging |
Het |
| Lrrc23 |
A |
G |
6: 124,756,088 (GRCm39) |
S2P |
unknown |
Het |
| Lyst |
T |
A |
13: 13,812,109 (GRCm39) |
D840E |
probably benign |
Het |
| Mmp23 |
T |
A |
4: 155,736,041 (GRCm39) |
T204S |
probably damaging |
Het |
| Mms19 |
T |
C |
19: 41,936,717 (GRCm39) |
T785A |
probably benign |
Het |
| Mov10 |
A |
T |
3: 104,707,368 (GRCm39) |
|
probably null |
Het |
| Mtf2 |
A |
G |
5: 108,248,836 (GRCm39) |
T383A |
probably benign |
Het |
| Myo5c |
G |
A |
9: 75,158,809 (GRCm39) |
|
probably null |
Het |
| Nfxl1 |
A |
T |
5: 72,681,517 (GRCm39) |
C671* |
probably null |
Het |
| Npepps |
A |
G |
11: 97,103,982 (GRCm39) |
V813A |
probably benign |
Het |
| Nrn1 |
C |
A |
13: 36,910,825 (GRCm39) |
W69L |
probably damaging |
Het |
| Oprd1 |
A |
C |
4: 131,841,378 (GRCm39) |
D193E |
probably benign |
Het |
| Or2ag1b |
T |
A |
7: 106,288,417 (GRCm39) |
I174F |
possibly damaging |
Het |
| Or52p1 |
C |
T |
7: 104,267,059 (GRCm39) |
H58Y |
probably damaging |
Het |
| Or55b3 |
A |
T |
7: 102,126,883 (GRCm39) |
Y65N |
probably damaging |
Het |
| Or56b2j |
T |
A |
7: 104,352,796 (GRCm39) |
D7E |
probably benign |
Het |
| Or6c202 |
A |
G |
10: 128,996,620 (GRCm39) |
Y78H |
possibly damaging |
Het |
| Or6c209 |
T |
C |
10: 129,483,027 (GRCm39) |
I10T |
probably damaging |
Het |
| Or6k6 |
A |
C |
1: 173,944,753 (GRCm39) |
F276L |
probably benign |
Het |
| Pcdhac1 |
G |
T |
18: 37,225,550 (GRCm39) |
V788L |
probably benign |
Het |
| Pcdhb11 |
G |
A |
18: 37,556,313 (GRCm39) |
V548M |
probably damaging |
Het |
| Pde4c |
A |
T |
8: 71,201,621 (GRCm39) |
E517V |
possibly damaging |
Het |
| Pdzd7 |
T |
C |
19: 45,022,086 (GRCm39) |
R521G |
possibly damaging |
Het |
| Pik3c2a |
T |
A |
7: 115,972,089 (GRCm39) |
K780N |
probably damaging |
Het |
| Plb1 |
T |
G |
5: 32,478,591 (GRCm39) |
|
probably null |
Het |
| Plcb4 |
T |
A |
2: 135,842,139 (GRCm39) |
L1041Q |
probably benign |
Het |
| Pnpla6 |
G |
A |
8: 3,566,540 (GRCm39) |
|
probably null |
Het |
| Ppat |
A |
T |
5: 77,063,826 (GRCm39) |
N441K |
probably damaging |
Het |
| Ppp1r1b |
G |
A |
11: 98,246,305 (GRCm39) |
A132T |
probably damaging |
Het |
| Prl2c2 |
A |
C |
13: 13,172,065 (GRCm39) |
|
probably null |
Het |
| Prr14 |
T |
C |
7: 127,074,458 (GRCm39) |
I330T |
probably benign |
Het |
| Pycr1 |
T |
C |
11: 120,533,749 (GRCm39) |
D36G |
probably benign |
Het |
| Rabep2 |
T |
A |
7: 126,037,891 (GRCm39) |
I221N |
probably damaging |
Het |
| Rad23b |
A |
G |
4: 55,370,469 (GRCm39) |
D165G |
probably benign |
Het |
| Reln |
G |
A |
5: 22,176,951 (GRCm39) |
T1905I |
probably damaging |
Het |
| Ripor2 |
T |
C |
13: 24,878,188 (GRCm39) |
V321A |
probably benign |
Het |
| Rnf43 |
A |
G |
11: 87,622,678 (GRCm39) |
D466G |
probably benign |
Het |
| Rpl6 |
A |
T |
5: 121,343,655 (GRCm39) |
R63W |
possibly damaging |
Het |
| S100a14 |
A |
G |
3: 90,435,511 (GRCm39) |
T102A |
probably benign |
Het |
| Samd11 |
C |
A |
4: 156,333,857 (GRCm39) |
V195L |
probably benign |
Het |
| Scaper |
G |
A |
9: 55,669,561 (GRCm39) |
Q372* |
probably null |
Het |
| Sec14l5 |
G |
T |
16: 4,998,739 (GRCm39) |
C593F |
probably damaging |
Het |
| Sema6d |
T |
C |
2: 124,496,078 (GRCm39) |
Y41H |
probably damaging |
Het |
| Serac1 |
G |
A |
17: 6,119,589 (GRCm39) |
R114W |
probably damaging |
Het |
| Slc12a4 |
T |
C |
8: 106,677,468 (GRCm39) |
E388G |
probably benign |
Het |
| Smarcd3 |
T |
C |
5: 24,800,810 (GRCm39) |
T164A |
probably benign |
Het |
| Smtn |
C |
A |
11: 3,480,249 (GRCm39) |
R324L |
probably benign |
Het |
| Spata31d1c |
C |
T |
13: 65,183,175 (GRCm39) |
P239L |
probably benign |
Het |
| Srcap |
T |
C |
7: 127,137,689 (GRCm39) |
V1013A |
possibly damaging |
Het |
| Sv2b |
T |
C |
7: 74,773,812 (GRCm39) |
N553S |
probably damaging |
Het |
| Tex35 |
T |
A |
1: 156,932,656 (GRCm39) |
N52I |
probably damaging |
Het |
| Ticrr |
T |
C |
7: 79,343,734 (GRCm39) |
S1200P |
probably benign |
Het |
| Tmem19 |
A |
G |
10: 115,183,604 (GRCm39) |
L125P |
probably damaging |
Het |
| Trio |
A |
G |
15: 27,856,193 (GRCm39) |
V666A |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,747,627 (GRCm39) |
D4474G |
probably benign |
Het |
| Usp43 |
A |
T |
11: 67,783,842 (GRCm39) |
S368T |
possibly damaging |
Het |
| Vmn2r72 |
T |
A |
7: 85,400,348 (GRCm39) |
M234L |
probably benign |
Het |
| Wdr93 |
T |
A |
7: 79,427,055 (GRCm39) |
|
probably null |
Het |
| Wrap73 |
T |
A |
4: 154,240,584 (GRCm39) |
W359R |
probably damaging |
Het |
| Ywhah |
A |
G |
5: 33,183,985 (GRCm39) |
I63V |
probably benign |
Het |
| Zbtb7b |
G |
T |
3: 89,288,366 (GRCm39) |
P151T |
probably damaging |
Het |
| Zfp318 |
A |
G |
17: 46,710,995 (GRCm39) |
N906S |
probably damaging |
Het |
| Zfp423 |
C |
A |
8: 88,507,341 (GRCm39) |
C1001F |
probably damaging |
Het |
| Zmym1 |
A |
G |
4: 126,943,191 (GRCm39) |
I399T |
possibly damaging |
Het |
| Zmynd15 |
G |
A |
11: 70,353,014 (GRCm39) |
G296D |
probably benign |
Het |
| Znfx1 |
T |
A |
2: 166,890,475 (GRCm39) |
I670F |
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 |
|
|
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 |
|
|
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 |
|
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'- ACTTTTAAGTTGATCCAGTGTCTGC -3'
(R):5'- CCTACCACCTGTTAATTGCGAG -3'
Sequencing Primer
(F):5'- GCGATCTGCTAAGAAAAGAA -3'
(R):5'- CCTGTTAATTGCGAGAATAAAGACG -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation