Incidental Mutation 'R8115:Kdm5b'
| ID |
631109 |
| 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 |
067544-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.268)
|
| Stock # |
R8115 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
134560171-134635285 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 134619673 bp (GRCm38)
|
| 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 |
|---|
| 3110043O21Rik |
T |
C |
4: 35,218,763 (GRCm38) |
Y32C |
|
Het |
| A1bg |
T |
G |
15: 60,920,147 (GRCm38) |
I211L |
probably benign |
Het |
| Abhd16b |
G |
A |
2: 181,493,734 (GRCm38) |
R143H |
possibly damaging |
Het |
| Abt1 |
T |
C |
13: 23,422,232 (GRCm38) |
E184G |
probably damaging |
Het |
| Aqp1 |
AGG |
AGGG |
6: 55,345,513 (GRCm38) |
|
probably null |
Het |
| Asxl3 |
G |
A |
18: 22,517,585 (GRCm38) |
R877Q |
probably damaging |
Het |
| B3galt1 |
A |
G |
2: 68,117,976 (GRCm38) |
T12A |
possibly damaging |
Het |
| Bcat1 |
G |
A |
6: 145,010,093 (GRCm38) |
P354L |
probably damaging |
Het |
| Cad |
T |
C |
5: 31,060,927 (GRCm38) |
F452L |
possibly damaging |
Het |
| Cadps2 |
T |
A |
6: 23,328,898 (GRCm38) |
I973F |
probably benign |
Het |
| Cenpq |
T |
C |
17: 40,932,829 (GRCm38) |
N43D |
probably damaging |
Het |
| Chd9 |
G |
T |
8: 91,036,332 (GRCm38) |
V2262L |
probably damaging |
Het |
| Cttnbp2nl |
G |
T |
3: 105,006,086 (GRCm38) |
Q161K |
probably damaging |
Het |
| D630003M21Rik |
A |
T |
2: 158,216,590 (GRCm38) |
H463Q |
probably benign |
Het |
| Defb1 |
C |
T |
8: 21,794,484 (GRCm38) |
H40Y |
probably benign |
Het |
| Dmrtb1 |
A |
T |
4: 107,677,059 (GRCm38) |
D186E |
probably benign |
Het |
| Dsc2 |
C |
T |
18: 20,032,274 (GRCm38) |
G881R |
possibly damaging |
Het |
| Efr3a |
T |
A |
15: 65,866,795 (GRCm38) |
F758I |
probably damaging |
Het |
| Fap |
A |
G |
2: 62,519,041 (GRCm38) |
I501T |
probably benign |
Het |
| Galr3 |
C |
T |
15: 79,043,324 (GRCm38) |
R322* |
probably null |
Het |
| Hrnr |
C |
A |
3: 93,323,732 (GRCm38) |
R426S |
unknown |
Het |
| Hsp90ab1 |
A |
T |
17: 45,569,275 (GRCm38) |
M476K |
possibly damaging |
Het |
| Igsf3 |
G |
T |
3: 101,455,279 (GRCm38) |
R872L |
probably benign |
Het |
| Ippk |
C |
T |
13: 49,446,342 (GRCm38) |
P226S |
|
Het |
| Iqsec3 |
T |
G |
6: 121,473,030 (GRCm38) |
R178S |
unknown |
Het |
| Itgbl1 |
T |
C |
14: 123,857,543 (GRCm38) |
C327R |
probably damaging |
Het |
| Itsn2 |
A |
T |
12: 4,673,602 (GRCm38) |
Q1179L |
possibly damaging |
Het |
| Kcnb2 |
T |
C |
1: 15,711,627 (GRCm38) |
*908R |
probably null |
Het |
| Kpna3 |
C |
A |
14: 61,370,918 (GRCm38) |
V364L |
probably damaging |
Het |
| Lsm14a |
T |
C |
7: 34,375,237 (GRCm38) |
I93V |
probably benign |
Het |
| Mast2 |
A |
G |
4: 116,435,447 (GRCm38) |
S109P |
probably benign |
Het |
| Muc4 |
G |
A |
16: 32,755,304 (GRCm38) |
S1726N |
unknown |
Het |
| Myo7a |
T |
C |
7: 98,066,446 (GRCm38) |
D1477G |
probably damaging |
Het |
| Nostrin |
G |
A |
2: 69,180,920 (GRCm38) |
|
probably null |
Het |
| Oasl1 |
T |
A |
5: 114,936,937 (GRCm38) |
V352E |
probably damaging |
Het |
| Olfr459 |
T |
A |
6: 41,771,538 (GRCm38) |
T254S |
probably benign |
Het |
| Pafah1b1 |
A |
G |
11: 74,684,493 (GRCm38) |
V195A |
probably damaging |
Het |
| Pcdhb4 |
G |
A |
18: 37,309,400 (GRCm38) |
V588M |
probably damaging |
Het |
| Pcsk5 |
A |
G |
19: 17,510,166 (GRCm38) |
|
probably null |
Het |
| Peg10 |
A |
G |
6: 4,756,707 (GRCm38) |
I428V |
unknown |
Het |
| Pmfbp1 |
G |
A |
8: 109,537,037 (GRCm38) |
V824M |
probably damaging |
Het |
| Prkag3 |
T |
C |
1: 74,747,959 (GRCm38) |
R47G |
possibly damaging |
Het |
| Prl8a1 |
T |
A |
13: 27,574,045 (GRCm38) |
H227L |
probably benign |
Het |
| Prune2 |
A |
G |
19: 17,123,924 (GRCm38) |
D2264G |
probably benign |
Het |
| Psg28 |
A |
G |
7: 18,430,386 (GRCm38) |
Y134H |
probably benign |
Het |
| Rab3gap2 |
T |
A |
1: 185,267,250 (GRCm38) |
Y1019N |
possibly damaging |
Het |
| Rbm15 |
A |
T |
3: 107,331,650 (GRCm38) |
F477L |
probably damaging |
Het |
| Ric1 |
A |
T |
19: 29,586,573 (GRCm38) |
N576Y |
probably damaging |
Het |
| S1pr1 |
T |
A |
3: 115,712,649 (GRCm38) |
T99S |
probably benign |
Het |
| Serpinb9b |
G |
T |
13: 33,035,548 (GRCm38) |
V153F |
probably null |
Het |
| Sh2d3c |
A |
G |
2: 32,725,264 (GRCm38) |
E122G |
probably benign |
Het |
| Slc6a11 |
T |
A |
6: 114,131,481 (GRCm38) |
W69R |
probably damaging |
Het |
| Slco6c1 |
T |
A |
1: 97,072,961 (GRCm38) |
I539F |
probably damaging |
Het |
| Smgc |
G |
T |
15: 91,849,119 (GRCm38) |
|
probably null |
Het |
| Spata17 |
T |
C |
1: 187,117,456 (GRCm38) |
Y194C |
probably damaging |
Het |
| Tap1 |
A |
T |
17: 34,193,319 (GRCm38) |
|
probably null |
Het |
| Topbp1 |
T |
C |
9: 103,320,541 (GRCm38) |
S440P |
probably benign |
Het |
| Trpc6 |
T |
C |
9: 8,609,981 (GRCm38) |
L150P |
probably damaging |
Het |
| Ttll4 |
C |
T |
1: 74,687,330 (GRCm38) |
Q696* |
probably null |
Het |
| Ubash3b |
C |
T |
9: 41,026,328 (GRCm38) |
E447K |
probably damaging |
Het |
| Unc5cl |
T |
C |
17: 48,467,410 (GRCm38) |
S477P |
possibly damaging |
Het |
| Unc80 |
A |
G |
1: 66,648,913 (GRCm38) |
T2357A |
probably benign |
Het |
| Vmn1r58 |
A |
T |
7: 5,410,342 (GRCm38) |
S296R |
probably benign |
Het |
| Vmn2r85 |
G |
T |
10: 130,425,951 (GRCm38) |
N172K |
probably benign |
Het |
| Wdfy4 |
G |
A |
14: 33,104,115 (GRCm38) |
P1193L |
|
Het |
| Yipf7 |
T |
A |
5: 69,527,227 (GRCm38) |
T82S |
probably benign |
Het |
| Zap70 |
A |
G |
1: 36,781,206 (GRCm38) |
S523G |
probably damaging |
Het |
| Zfp354a |
A |
G |
11: 51,069,663 (GRCm38) |
T233A |
probably benign |
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 |
|
R2059: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 |
|
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'- GGAAAATGCAGTTGTGAAATGTCTG -3'
(R):5'- CATGACTGAGAGCTACTGAACC -3'
Sequencing Primer
(F):5'- AAATGTCTGTGCAGTTGGAAATGTC -3'
(R):5'- GACTGAGAGCTACTGAACCTTTAGC -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation