Incidental Mutation 'R8115:Kdm5b'
| ID |
631109 |
| 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 |
067544-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.451)
|
| Stock # |
R8115 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
134487916-134560621 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 134547411 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Leucine
at position 1020
(W1020L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038138
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047714]
[ENSMUST00000112198]
|
| AlphaFold |
Q80Y84 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000047714
AA Change: W1020L
PolyPhen 2
Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000038138
Gene: ENSMUSG00000042207
AA Change: W1020L
| 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: W1020L
PolyPhen 2
Score 0.796 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000107817
Gene: ENSMUSG00000042207
AA Change: W1020L
| 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 |
0.8542 |
| Coding Region Coverage |
- 1x: 99.7%
- 3x: 99.5%
- 10x: 98.4%
- 20x: 94.2%
|
| Validation Efficiency |
100% (68/68) |
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1bg |
T |
G |
15: 60,791,996 (GRCm39) |
I211L |
probably benign |
Het |
| Abhd16b |
G |
A |
2: 181,135,527 (GRCm39) |
R143H |
possibly damaging |
Het |
| Abt1 |
T |
C |
13: 23,606,402 (GRCm39) |
E184G |
probably damaging |
Het |
| Aqp1 |
AGG |
AGGG |
6: 55,322,498 (GRCm39) |
|
probably null |
Het |
| Asxl3 |
G |
A |
18: 22,650,642 (GRCm39) |
R877Q |
probably damaging |
Het |
| B3galt1 |
A |
G |
2: 67,948,320 (GRCm39) |
T12A |
possibly damaging |
Het |
| Bcat1 |
G |
A |
6: 144,955,819 (GRCm39) |
P354L |
probably damaging |
Het |
| C9orf72 |
T |
C |
4: 35,218,763 (GRCm39) |
Y32C |
|
Het |
| Cad |
T |
C |
5: 31,218,271 (GRCm39) |
F452L |
possibly damaging |
Het |
| Cadps2 |
T |
A |
6: 23,328,897 (GRCm39) |
I973F |
probably benign |
Het |
| Cenpq |
T |
C |
17: 41,243,720 (GRCm39) |
N43D |
probably damaging |
Het |
| Chd9 |
G |
T |
8: 91,762,960 (GRCm39) |
V2262L |
probably damaging |
Het |
| Cttnbp2nl |
G |
T |
3: 104,913,402 (GRCm39) |
Q161K |
probably damaging |
Het |
| D630003M21Rik |
A |
T |
2: 158,058,510 (GRCm39) |
H463Q |
probably benign |
Het |
| Defb1 |
C |
T |
8: 22,284,500 (GRCm39) |
H40Y |
probably benign |
Het |
| Dmrtb1 |
A |
T |
4: 107,534,256 (GRCm39) |
D186E |
probably benign |
Het |
| Dsc2 |
C |
T |
18: 20,165,331 (GRCm39) |
G881R |
possibly damaging |
Het |
| Efr3a |
T |
A |
15: 65,738,644 (GRCm39) |
F758I |
probably damaging |
Het |
| Fap |
A |
G |
2: 62,349,385 (GRCm39) |
I501T |
probably benign |
Het |
| Galr3 |
C |
T |
15: 78,927,524 (GRCm39) |
R322* |
probably null |
Het |
| Hrnr |
C |
A |
3: 93,231,039 (GRCm39) |
R426S |
unknown |
Het |
| Hsp90ab1 |
A |
T |
17: 45,880,201 (GRCm39) |
M476K |
possibly damaging |
Het |
| Igsf3 |
G |
T |
3: 101,362,595 (GRCm39) |
R872L |
probably benign |
Het |
| Ippk |
C |
T |
13: 49,599,818 (GRCm39) |
P226S |
|
Het |
| Iqsec3 |
T |
G |
6: 121,449,989 (GRCm39) |
R178S |
unknown |
Het |
| Itgbl1 |
T |
C |
14: 124,094,955 (GRCm39) |
C327R |
probably damaging |
Het |
| Itsn2 |
A |
T |
12: 4,723,602 (GRCm39) |
Q1179L |
possibly damaging |
Het |
| Kcnb2 |
T |
C |
1: 15,781,851 (GRCm39) |
*908R |
probably null |
Het |
| Kpna3 |
C |
A |
14: 61,608,367 (GRCm39) |
V364L |
probably damaging |
Het |
| Lsm14a |
T |
C |
7: 34,074,662 (GRCm39) |
I93V |
probably benign |
Het |
| Mast2 |
A |
G |
4: 116,292,644 (GRCm39) |
S109P |
probably benign |
Het |
| Muc4 |
G |
A |
16: 32,575,678 (GRCm39) |
S1726N |
unknown |
Het |
| Myo7a |
T |
C |
7: 97,715,653 (GRCm39) |
D1477G |
probably damaging |
Het |
| Nostrin |
G |
A |
2: 69,011,264 (GRCm39) |
|
probably null |
Het |
| Oasl1 |
T |
A |
5: 115,074,996 (GRCm39) |
V352E |
probably damaging |
Het |
| Or9a2 |
T |
A |
6: 41,748,472 (GRCm39) |
T254S |
probably benign |
Het |
| Pafah1b1 |
A |
G |
11: 74,575,319 (GRCm39) |
V195A |
probably damaging |
Het |
| Pcdhb4 |
G |
A |
18: 37,442,453 (GRCm39) |
V588M |
probably damaging |
Het |
| Pcsk5 |
A |
G |
19: 17,487,530 (GRCm39) |
|
probably null |
Het |
| Peg10 |
A |
G |
6: 4,756,707 (GRCm39) |
I428V |
unknown |
Het |
| Pmfbp1 |
G |
A |
8: 110,263,669 (GRCm39) |
V824M |
probably damaging |
Het |
| Prkag3 |
T |
C |
1: 74,787,118 (GRCm39) |
R47G |
possibly damaging |
Het |
| Prl8a1 |
T |
A |
13: 27,758,028 (GRCm39) |
H227L |
probably benign |
Het |
| Prune2 |
A |
G |
19: 17,101,288 (GRCm39) |
D2264G |
probably benign |
Het |
| Psg28 |
A |
G |
7: 18,164,311 (GRCm39) |
Y134H |
probably benign |
Het |
| Rab3gap2 |
T |
A |
1: 184,999,447 (GRCm39) |
Y1019N |
possibly damaging |
Het |
| Rbm15 |
A |
T |
3: 107,238,966 (GRCm39) |
F477L |
probably damaging |
Het |
| Ric1 |
A |
T |
19: 29,563,973 (GRCm39) |
N576Y |
probably damaging |
Het |
| S1pr1 |
T |
A |
3: 115,506,298 (GRCm39) |
T99S |
probably benign |
Het |
| Serpinb9b |
G |
T |
13: 33,219,531 (GRCm39) |
V153F |
probably null |
Het |
| Sh2d3c |
A |
G |
2: 32,615,276 (GRCm39) |
E122G |
probably benign |
Het |
| Slc6a11 |
T |
A |
6: 114,108,442 (GRCm39) |
W69R |
probably damaging |
Het |
| Slco6c1 |
T |
A |
1: 97,000,686 (GRCm39) |
I539F |
probably damaging |
Het |
| Smgc |
G |
T |
15: 91,733,322 (GRCm39) |
|
probably null |
Het |
| Spata17 |
T |
C |
1: 186,849,653 (GRCm39) |
Y194C |
probably damaging |
Het |
| Tap1 |
A |
T |
17: 34,412,293 (GRCm39) |
|
probably null |
Het |
| Topbp1 |
T |
C |
9: 103,197,740 (GRCm39) |
S440P |
probably benign |
Het |
| Trpc6 |
T |
C |
9: 8,609,982 (GRCm39) |
L150P |
probably damaging |
Het |
| Ttll4 |
C |
T |
1: 74,726,489 (GRCm39) |
Q696* |
probably null |
Het |
| Ubash3b |
C |
T |
9: 40,937,624 (GRCm39) |
E447K |
probably damaging |
Het |
| Unc5cl |
T |
C |
17: 48,774,438 (GRCm39) |
S477P |
possibly damaging |
Het |
| Unc80 |
A |
G |
1: 66,688,072 (GRCm39) |
T2357A |
probably benign |
Het |
| Vmn1r58 |
A |
T |
7: 5,413,341 (GRCm39) |
S296R |
probably benign |
Het |
| Vmn2r85 |
G |
T |
10: 130,261,820 (GRCm39) |
N172K |
probably benign |
Het |
| Wdfy4 |
G |
A |
14: 32,826,072 (GRCm39) |
P1193L |
|
Het |
| Yipf7 |
T |
A |
5: 69,684,570 (GRCm39) |
T82S |
probably benign |
Het |
| Zap70 |
A |
G |
1: 36,820,287 (GRCm39) |
S523G |
probably damaging |
Het |
| Zfp354a |
A |
G |
11: 50,960,490 (GRCm39) |
T233A |
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 |
|
|
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 |
|
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'- GGAAAATGCAGTTGTGAAATGTCTG -3'
(R):5'- CATGACTGAGAGCTACTGAACC -3'
Sequencing Primer
(F):5'- AAATGTCTGTGCAGTTGGAAATGTC -3'
(R):5'- GACTGAGAGCTACTGAACCTTTAGC -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation