Incidental Mutation 'R4969:Kdm3b'
| ID |
384317 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kdm3b
|
| Ensembl Gene |
ENSMUSG00000038773 |
| Gene Name |
KDM3B lysine (K)-specific demethylase 3B |
| Synonyms |
Jmjd1b, 5830462I21Rik, JHDM2B |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.940)
|
| Stock # |
R4969 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
34910100-34971713 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 34955428 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 905
(L905P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153446
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043775]
[ENSMUST00000225195]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000043775
AA Change: L1105P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000037628
Gene: ENSMUSG00000038773
AA Change: L1105P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
20 |
36 |
N/A |
INTRINSIC |
|
Blast:JmjC
|
149 |
944 |
N/A |
BLAST |
|
Blast:JmjC
|
946 |
1064 |
5e-40 |
BLAST |
|
Blast:JmjC
|
1069 |
1471 |
N/A |
BLAST |
|
JmjC
|
1499 |
1722 |
2.43e-65 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223567
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224065
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000225195
AA Change: L905P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc8 |
A |
G |
7: 45,754,943 (GRCm39) |
I1525T |
probably benign |
Het |
| Agtpbp1 |
A |
G |
13: 59,648,392 (GRCm39) |
V476A |
probably benign |
Het |
| Aipl1 |
A |
G |
11: 71,922,256 (GRCm39) |
I151T |
probably benign |
Het |
| Apc |
C |
T |
18: 34,445,971 (GRCm39) |
R938* |
probably null |
Het |
| Atp2a2 |
A |
G |
5: 122,596,554 (GRCm39) |
F855S |
possibly damaging |
Het |
| Axdnd1 |
T |
C |
1: 156,223,075 (GRCm39) |
T261A |
possibly damaging |
Het |
| Cbfa2t2 |
A |
G |
2: 154,365,900 (GRCm39) |
D370G |
probably damaging |
Het |
| Cep350 |
T |
C |
1: 155,736,025 (GRCm39) |
I2964V |
probably damaging |
Het |
| Clec16a |
T |
C |
16: 10,386,375 (GRCm39) |
V158A |
probably damaging |
Het |
| Col6a5 |
G |
A |
9: 105,741,806 (GRCm39) |
T2371I |
probably damaging |
Het |
| Cpne8 |
T |
C |
15: 90,503,929 (GRCm39) |
T79A |
probably damaging |
Het |
| Cyp2b13 |
A |
G |
7: 25,780,413 (GRCm39) |
R145G |
probably damaging |
Het |
| Disc1 |
G |
A |
8: 125,851,289 (GRCm39) |
W391* |
probably null |
Het |
| Dnah8 |
G |
A |
17: 30,941,988 (GRCm39) |
V1745I |
probably damaging |
Het |
| Dsp |
T |
C |
13: 38,376,886 (GRCm39) |
V1557A |
probably benign |
Het |
| Egfem1 |
T |
A |
3: 29,637,145 (GRCm39) |
Y194N |
probably damaging |
Het |
| Eif4a3 |
A |
G |
11: 119,179,705 (GRCm39) |
Y361H |
probably damaging |
Het |
| Esd |
T |
A |
14: 74,982,153 (GRCm39) |
S189R |
possibly damaging |
Het |
| Fancf |
A |
T |
7: 51,511,196 (GRCm39) |
Y269* |
probably null |
Het |
| Fbln2 |
A |
T |
6: 91,248,569 (GRCm39) |
H1078L |
possibly damaging |
Het |
| Fbxw13 |
A |
G |
9: 109,010,592 (GRCm39) |
|
probably null |
Het |
| Fcgr2b |
A |
T |
1: 170,790,941 (GRCm39) |
V284D |
probably benign |
Het |
| Fuz |
G |
A |
7: 44,549,718 (GRCm39) |
G363R |
probably damaging |
Het |
| Gas7 |
A |
G |
11: 67,574,234 (GRCm39) |
E403G |
probably damaging |
Het |
| Gnl1 |
A |
G |
17: 36,291,581 (GRCm39) |
D49G |
possibly damaging |
Het |
| Gucy2g |
A |
G |
19: 55,214,445 (GRCm39) |
V561A |
probably benign |
Het |
| H1f7 |
A |
T |
15: 98,154,216 (GRCm39) |
V311E |
unknown |
Het |
| Hebp2 |
T |
C |
10: 18,420,122 (GRCm39) |
T104A |
probably benign |
Het |
| Ighv1-19 |
T |
A |
12: 114,672,377 (GRCm39) |
Q80L |
probably benign |
Het |
| Kctd19 |
T |
A |
8: 106,122,959 (GRCm39) |
|
probably null |
Het |
| Klkb1 |
T |
C |
8: 45,735,814 (GRCm39) |
D183G |
probably benign |
Het |
| Krt6b |
T |
C |
15: 101,588,460 (GRCm39) |
R67G |
possibly damaging |
Het |
| Krt75 |
T |
C |
15: 101,482,248 (GRCm39) |
I7V |
probably benign |
Het |
| Lpo |
A |
T |
11: 87,697,751 (GRCm39) |
N685K |
probably benign |
Het |
| Mroh7 |
A |
T |
4: 106,538,070 (GRCm39) |
I1202N |
probably benign |
Het |
| Muc4 |
T |
A |
16: 32,754,572 (GRCm38) |
M1482K |
probably benign |
Het |
| Mylk |
T |
A |
16: 34,791,810 (GRCm39) |
V1494E |
probably damaging |
Het |
| Neurl4 |
A |
G |
11: 69,801,913 (GRCm39) |
D17G |
probably damaging |
Het |
| Nkx6-3 |
A |
G |
8: 23,647,725 (GRCm39) |
Y228C |
probably damaging |
Het |
| Nprl2 |
G |
A |
9: 107,420,273 (GRCm39) |
|
probably null |
Het |
| Nxf1 |
A |
G |
19: 8,739,669 (GRCm39) |
|
probably null |
Het |
| Or4a39 |
A |
G |
2: 89,236,770 (GRCm39) |
F218L |
probably benign |
Het |
| Or52u1 |
A |
T |
7: 104,237,730 (GRCm39) |
N240Y |
probably damaging |
Het |
| Pde3b |
A |
G |
7: 114,118,847 (GRCm39) |
E662G |
possibly damaging |
Het |
| Plekhm3 |
G |
A |
1: 64,977,078 (GRCm39) |
R131C |
probably damaging |
Het |
| Plpp7 |
T |
C |
2: 31,985,950 (GRCm39) |
S43P |
probably benign |
Het |
| Pramel5 |
A |
G |
4: 143,998,187 (GRCm39) |
L352P |
probably damaging |
Het |
| Prepl |
T |
C |
17: 85,395,902 (GRCm39) |
S27G |
probably benign |
Het |
| Ptprd |
A |
G |
4: 76,051,542 (GRCm39) |
I227T |
probably damaging |
Het |
| Pttg1ip |
C |
T |
10: 77,419,854 (GRCm39) |
Q6* |
probably null |
Het |
| Rgl1 |
C |
T |
1: 152,424,813 (GRCm39) |
|
probably null |
Het |
| Riiad1 |
C |
A |
3: 94,380,173 (GRCm39) |
G41* |
probably null |
Het |
| Rnf214 |
C |
T |
9: 45,807,486 (GRCm39) |
R239H |
probably damaging |
Het |
| Rpap3 |
C |
T |
15: 97,584,407 (GRCm39) |
V346I |
probably benign |
Het |
| Scaf4 |
G |
A |
16: 90,048,831 (GRCm39) |
Q328* |
probably null |
Het |
| Sec23a |
A |
G |
12: 59,051,274 (GRCm39) |
|
probably null |
Het |
| Slc5a8 |
T |
A |
10: 88,740,774 (GRCm39) |
|
probably null |
Het |
| Slc9a8 |
A |
G |
2: 167,288,449 (GRCm39) |
T183A |
probably benign |
Het |
| Sod3 |
A |
T |
5: 52,525,736 (GRCm39) |
H145L |
probably damaging |
Het |
| Sp4 |
A |
G |
12: 118,263,341 (GRCm39) |
V235A |
probably damaging |
Het |
| Spp1 |
A |
C |
5: 104,588,153 (GRCm39) |
E185A |
possibly damaging |
Het |
| Susd1 |
A |
T |
4: 59,351,679 (GRCm39) |
W461R |
probably benign |
Het |
| Svil |
A |
C |
18: 5,095,516 (GRCm39) |
K1124Q |
probably damaging |
Het |
| Tdrd12 |
A |
T |
7: 35,186,720 (GRCm39) |
|
probably null |
Het |
| Terb1 |
A |
T |
8: 105,221,795 (GRCm39) |
N168K |
probably benign |
Het |
| Tnnt1 |
A |
G |
7: 4,510,573 (GRCm39) |
L216P |
probably damaging |
Het |
| Ttc28 |
A |
G |
5: 111,424,121 (GRCm39) |
K1463E |
probably damaging |
Het |
| Twf2 |
T |
G |
9: 106,089,098 (GRCm39) |
|
probably null |
Het |
| Urb1 |
C |
T |
16: 90,602,299 (GRCm39) |
R90Q |
probably damaging |
Het |
| Wdr45b |
A |
T |
11: 121,219,650 (GRCm39) |
C299* |
probably null |
Het |
| Wrap73 |
A |
G |
4: 154,237,138 (GRCm39) |
S54G |
probably damaging |
Het |
| Zeb2 |
T |
C |
2: 44,888,931 (GRCm39) |
K323R |
probably damaging |
Het |
| Zfp410 |
T |
C |
12: 84,378,582 (GRCm39) |
I302T |
possibly damaging |
Het |
|
| Other mutations in Kdm3b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00162:Kdm3b
|
APN |
18 |
34,942,462 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01357:Kdm3b
|
APN |
18 |
34,926,067 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01615:Kdm3b
|
APN |
18 |
34,962,284 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01980:Kdm3b
|
APN |
18 |
34,967,289 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02277:Kdm3b
|
APN |
18 |
34,956,717 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02346:Kdm3b
|
APN |
18 |
34,967,291 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02417:Kdm3b
|
APN |
18 |
34,941,630 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02531:Kdm3b
|
APN |
18 |
34,928,782 (GRCm39) |
missense |
probably benign |
|
|
IGL02589:Kdm3b
|
APN |
18 |
34,945,471 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL02793:Kdm3b
|
APN |
18 |
34,962,072 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03121:Kdm3b
|
APN |
18 |
34,928,762 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03123:Kdm3b
|
APN |
18 |
34,942,544 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03128:Kdm3b
|
APN |
18 |
34,960,480 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Affable
|
UTSW |
18 |
34,926,058 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Dotage
|
UTSW |
18 |
34,960,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Endearing
|
UTSW |
18 |
34,960,381 (GRCm39) |
splice site |
probably null |
|
|
Oldtimer
|
UTSW |
18 |
34,956,752 (GRCm39) |
nonsense |
probably null |
|
|
PIT4382001:Kdm3b
|
UTSW |
18 |
34,942,140 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4445001:Kdm3b
|
UTSW |
18 |
34,926,168 (GRCm39) |
nonsense |
probably null |
|
|
R0068:Kdm3b
|
UTSW |
18 |
34,957,827 (GRCm39) |
missense |
probably benign |
0.18 |
|
R0068:Kdm3b
|
UTSW |
18 |
34,957,827 (GRCm39) |
missense |
probably benign |
0.18 |
|
R0233:Kdm3b
|
UTSW |
18 |
34,942,473 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0265:Kdm3b
|
UTSW |
18 |
34,928,716 (GRCm39) |
splice site |
probably benign |
|
|
R0306:Kdm3b
|
UTSW |
18 |
34,937,070 (GRCm39) |
missense |
probably benign |
0.35 |
|
R0941:Kdm3b
|
UTSW |
18 |
34,936,605 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0970:Kdm3b
|
UTSW |
18 |
34,942,092 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1061:Kdm3b
|
UTSW |
18 |
34,929,915 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1104:Kdm3b
|
UTSW |
18 |
34,952,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1221:Kdm3b
|
UTSW |
18 |
34,941,298 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R1486:Kdm3b
|
UTSW |
18 |
34,967,357 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1523:Kdm3b
|
UTSW |
18 |
34,926,226 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1558:Kdm3b
|
UTSW |
18 |
34,942,149 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1585:Kdm3b
|
UTSW |
18 |
34,942,345 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1601:Kdm3b
|
UTSW |
18 |
34,941,784 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1650:Kdm3b
|
UTSW |
18 |
34,942,168 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1772:Kdm3b
|
UTSW |
18 |
34,936,557 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1853:Kdm3b
|
UTSW |
18 |
34,966,446 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1934:Kdm3b
|
UTSW |
18 |
34,946,597 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1959:Kdm3b
|
UTSW |
18 |
34,945,448 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R2079:Kdm3b
|
UTSW |
18 |
34,936,570 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2102:Kdm3b
|
UTSW |
18 |
34,963,200 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2121:Kdm3b
|
UTSW |
18 |
34,929,833 (GRCm39) |
splice site |
probably benign |
|
|
R2281:Kdm3b
|
UTSW |
18 |
34,941,472 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3719:Kdm3b
|
UTSW |
18 |
34,941,724 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3755:Kdm3b
|
UTSW |
18 |
34,941,349 (GRCm39) |
missense |
probably benign |
|
|
R3857:Kdm3b
|
UTSW |
18 |
34,966,440 (GRCm39) |
missense |
probably benign |
|
|
R4165:Kdm3b
|
UTSW |
18 |
34,928,797 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4166:Kdm3b
|
UTSW |
18 |
34,928,797 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4372:Kdm3b
|
UTSW |
18 |
34,960,497 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4672:Kdm3b
|
UTSW |
18 |
34,941,630 (GRCm39) |
missense |
probably benign |
|
|
R4933:Kdm3b
|
UTSW |
18 |
34,943,446 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5009:Kdm3b
|
UTSW |
18 |
34,957,763 (GRCm39) |
missense |
probably benign |
0.42 |
|
R5059:Kdm3b
|
UTSW |
18 |
34,910,250 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5092:Kdm3b
|
UTSW |
18 |
34,946,515 (GRCm39) |
missense |
probably benign |
0.16 |
|
R5270:Kdm3b
|
UTSW |
18 |
34,960,467 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5816:Kdm3b
|
UTSW |
18 |
34,961,522 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5970:Kdm3b
|
UTSW |
18 |
34,962,342 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6244:Kdm3b
|
UTSW |
18 |
34,926,058 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6705:Kdm3b
|
UTSW |
18 |
34,952,926 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6723:Kdm3b
|
UTSW |
18 |
34,926,058 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6909:Kdm3b
|
UTSW |
18 |
34,960,381 (GRCm39) |
splice site |
probably null |
|
|
R6958:Kdm3b
|
UTSW |
18 |
34,941,336 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7026:Kdm3b
|
UTSW |
18 |
34,955,517 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7289:Kdm3b
|
UTSW |
18 |
34,927,557 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7488:Kdm3b
|
UTSW |
18 |
34,957,934 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7587:Kdm3b
|
UTSW |
18 |
34,930,080 (GRCm39) |
splice site |
probably null |
|
|
R7695:Kdm3b
|
UTSW |
18 |
34,927,612 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7846:Kdm3b
|
UTSW |
18 |
34,942,293 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7984:Kdm3b
|
UTSW |
18 |
34,956,752 (GRCm39) |
nonsense |
probably null |
|
|
R7997:Kdm3b
|
UTSW |
18 |
34,941,336 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8035:Kdm3b
|
UTSW |
18 |
34,941,781 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8064:Kdm3b
|
UTSW |
18 |
34,946,460 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8141:Kdm3b
|
UTSW |
18 |
34,961,599 (GRCm39) |
nonsense |
probably null |
|
|
R8302:Kdm3b
|
UTSW |
18 |
34,967,388 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8328:Kdm3b
|
UTSW |
18 |
34,926,123 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8443:Kdm3b
|
UTSW |
18 |
34,926,129 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8513:Kdm3b
|
UTSW |
18 |
34,926,129 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8515:Kdm3b
|
UTSW |
18 |
34,926,129 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8523:Kdm3b
|
UTSW |
18 |
34,926,129 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8717:Kdm3b
|
UTSW |
18 |
34,952,840 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8725:Kdm3b
|
UTSW |
18 |
34,960,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8727:Kdm3b
|
UTSW |
18 |
34,960,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8762:Kdm3b
|
UTSW |
18 |
34,937,157 (GRCm39) |
missense |
probably benign |
|
|
R8835:Kdm3b
|
UTSW |
18 |
34,941,802 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8918:Kdm3b
|
UTSW |
18 |
34,970,650 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9015:Kdm3b
|
UTSW |
18 |
34,963,212 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9144:Kdm3b
|
UTSW |
18 |
34,927,558 (GRCm39) |
missense |
probably benign |
|
|
R9246:Kdm3b
|
UTSW |
18 |
34,941,480 (GRCm39) |
nonsense |
probably null |
|
|
R9376:Kdm3b
|
UTSW |
18 |
34,970,718 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0028:Kdm3b
|
UTSW |
18 |
34,932,319 (GRCm39) |
splice site |
probably null |
|
|
X0067:Kdm3b
|
UTSW |
18 |
34,956,570 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1176:Kdm3b
|
UTSW |
18 |
34,942,122 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCCTTGAATCCGTGAAGATGG -3'
(R):5'- ACTTAACGTGGCTGGGGTTC -3'
Sequencing Primer
(F):5'- TCCGTGAAGATGGTACTAACCTGAC -3'
(R):5'- ACCCTTCTACCTCAGTGCTG -3'
|
| Posted On |
2016-04-27 |
Incidental Mutation