Incidental Mutation 'R2079:Kdm3b'
| ID |
229388 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kdm3b
|
| Ensembl Gene |
ENSMUSG00000038773 |
| Gene Name |
KDM3B lysine (K)-specific demethylase 3B |
| Synonyms |
Jmjd1b, 5830462I21Rik, JHDM2B |
| MMRRC Submission |
040084-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.943)
|
| Stock # |
R2079 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
34910100-34971713 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 34936570 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 284
(D284V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153295
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043775]
[ENSMUST00000224715]
[ENSMUST00000225195]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000043775
AA Change: D284V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000037628
Gene: ENSMUSG00000038773
AA Change: D284V
| 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: ENSMUST00000180512
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000224715
AA Change: D284V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225047
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225195
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225260
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts6 |
A |
T |
13: 104,598,746 (GRCm39) |
R862S |
probably benign |
Het |
| Aldoa |
T |
C |
7: 126,396,076 (GRCm39) |
D164G |
probably null |
Het |
| Ankle2 |
T |
C |
5: 110,392,371 (GRCm39) |
V459A |
probably damaging |
Het |
| Atp11a |
A |
G |
8: 12,907,902 (GRCm39) |
Y482C |
probably damaging |
Het |
| BC035947 |
A |
G |
1: 78,488,561 (GRCm39) |
|
probably benign |
Het |
| Cfap65 |
G |
A |
1: 74,956,358 (GRCm39) |
R1074C |
probably benign |
Het |
| Ciart |
G |
T |
3: 95,786,350 (GRCm39) |
H242N |
probably damaging |
Het |
| Cidec |
T |
A |
6: 113,402,615 (GRCm39) |
M220L |
probably benign |
Het |
| Clca3a1 |
A |
G |
3: 144,713,534 (GRCm39) |
I699T |
possibly damaging |
Het |
| Csf2rb2 |
T |
C |
15: 78,172,207 (GRCm39) |
D401G |
probably benign |
Het |
| Cyp2j6 |
C |
A |
4: 96,419,962 (GRCm39) |
L256F |
possibly damaging |
Het |
| Ddr2 |
A |
T |
1: 169,832,345 (GRCm39) |
Y148* |
probably null |
Het |
| Depdc5 |
T |
A |
5: 33,104,018 (GRCm39) |
I373N |
possibly damaging |
Het |
| Dpp10 |
A |
T |
1: 123,360,721 (GRCm39) |
M268K |
probably damaging |
Het |
| Fam118b |
C |
A |
9: 35,134,960 (GRCm39) |
V216F |
possibly damaging |
Het |
| Fancd2 |
T |
C |
6: 113,532,148 (GRCm39) |
V487A |
probably damaging |
Het |
| Fhad1 |
T |
A |
4: 141,718,513 (GRCm39) |
R147* |
probably null |
Het |
| Flt3 |
A |
G |
5: 147,291,893 (GRCm39) |
S544P |
probably damaging |
Het |
| Frem3 |
C |
A |
8: 81,341,732 (GRCm39) |
Q1342K |
probably benign |
Het |
| Garin3 |
T |
G |
11: 46,295,934 (GRCm39) |
V102G |
probably benign |
Het |
| Gimap4 |
T |
C |
6: 48,667,881 (GRCm39) |
M84T |
possibly damaging |
Het |
| Gm20481 |
T |
C |
17: 35,189,196 (GRCm39) |
K569R |
probably benign |
Het |
| Gm4871 |
A |
C |
5: 144,966,741 (GRCm39) |
D247E |
possibly damaging |
Het |
| Gm5141 |
A |
T |
13: 62,922,424 (GRCm39) |
N248K |
probably benign |
Het |
| Gulo |
A |
G |
14: 66,227,832 (GRCm39) |
Y367H |
probably damaging |
Het |
| Hap1 |
T |
C |
11: 100,244,572 (GRCm39) |
E120G |
probably damaging |
Het |
| Heatr3 |
T |
A |
8: 88,868,404 (GRCm39) |
N51K |
probably damaging |
Het |
| Hipk2 |
T |
C |
6: 38,795,720 (GRCm39) |
D183G |
probably damaging |
Het |
| Hnrnpll |
T |
A |
17: 80,342,806 (GRCm39) |
T439S |
probably benign |
Het |
| Hoxd3 |
A |
C |
2: 74,574,610 (GRCm39) |
E85D |
probably damaging |
Het |
| Ipo8 |
A |
T |
6: 148,690,660 (GRCm39) |
M694K |
probably damaging |
Het |
| Jag2 |
A |
G |
12: 112,883,997 (GRCm39) |
I194T |
probably damaging |
Het |
| Jrkl |
A |
T |
9: 13,244,864 (GRCm39) |
F266I |
probably damaging |
Het |
| Kcnt1 |
A |
G |
2: 25,790,260 (GRCm39) |
I436V |
possibly damaging |
Het |
| Khdrbs2 |
A |
G |
1: 32,506,955 (GRCm39) |
T200A |
probably benign |
Het |
| Kmt2c |
T |
C |
5: 25,557,278 (GRCm39) |
D1143G |
possibly damaging |
Het |
| Kremen1 |
G |
GGGGT |
11: 5,151,794 (GRCm39) |
|
probably null |
Het |
| Lama2 |
A |
C |
10: 27,245,049 (GRCm39) |
I244S |
probably damaging |
Het |
| Lama5 |
G |
A |
2: 179,867,301 (GRCm39) |
P99S |
possibly damaging |
Het |
| Lrrc30 |
A |
T |
17: 67,938,875 (GRCm39) |
L235Q |
possibly damaging |
Het |
| Man2b2 |
C |
T |
5: 36,971,716 (GRCm39) |
V667M |
possibly damaging |
Het |
| Mmp2 |
T |
A |
8: 93,576,817 (GRCm39) |
N77K |
probably damaging |
Het |
| Myo1a |
A |
G |
10: 127,556,482 (GRCm39) |
E1009G |
probably benign |
Het |
| Ndst1 |
A |
G |
18: 60,828,581 (GRCm39) |
Y658H |
probably damaging |
Het |
| Nlrp10 |
A |
G |
7: 108,524,835 (GRCm39) |
L215P |
possibly damaging |
Het |
| Nrbp1 |
T |
C |
5: 31,408,417 (GRCm39) |
F526L |
probably benign |
Het |
| Or10p21 |
T |
C |
10: 128,847,898 (GRCm39) |
V248A |
probably damaging |
Het |
| Or51t4 |
T |
A |
7: 102,598,702 (GRCm39) |
F333L |
probably benign |
Het |
| Padi2 |
T |
C |
4: 140,660,507 (GRCm39) |
L329P |
probably damaging |
Het |
| Pcdhb20 |
A |
G |
18: 37,638,224 (GRCm39) |
Q250R |
probably benign |
Het |
| Pcdhb3 |
T |
A |
18: 37,436,362 (GRCm39) |
L776Q |
possibly damaging |
Het |
| Pik3cb |
A |
T |
9: 98,942,257 (GRCm39) |
M700K |
probably benign |
Het |
| Pla2g6 |
C |
T |
15: 79,197,194 (GRCm39) |
V127M |
probably damaging |
Het |
| Rabgef1 |
T |
C |
5: 130,219,776 (GRCm39) |
S80P |
probably damaging |
Het |
| Sema3a |
C |
T |
5: 13,501,098 (GRCm39) |
T47I |
possibly damaging |
Het |
| Sik2 |
C |
T |
9: 50,818,706 (GRCm39) |
|
probably null |
Het |
| Sin3a |
T |
C |
9: 56,996,807 (GRCm39) |
V112A |
probably benign |
Het |
| Slc26a6 |
G |
A |
9: 108,736,257 (GRCm39) |
A472T |
probably damaging |
Het |
| Syne1 |
A |
G |
10: 5,311,502 (GRCm39) |
V561A |
probably benign |
Het |
| Syt16 |
C |
T |
12: 74,285,073 (GRCm39) |
T422I |
probably damaging |
Het |
| Tlr11 |
A |
T |
14: 50,598,437 (GRCm39) |
H141L |
probably damaging |
Het |
| Tmem252 |
A |
T |
19: 24,655,017 (GRCm39) |
E131D |
probably benign |
Het |
| Trim55 |
T |
G |
3: 19,698,830 (GRCm39) |
L20V |
probably damaging |
Het |
| Uqcrfs1 |
A |
T |
13: 30,725,291 (GRCm39) |
V83D |
probably benign |
Het |
| Utf1 |
C |
T |
7: 139,524,808 (GRCm39) |
R309* |
probably null |
Het |
| Uxs1 |
T |
C |
1: 43,804,133 (GRCm39) |
T261A |
probably damaging |
Het |
| Vmn1r24 |
T |
C |
6: 57,932,655 (GRCm39) |
I288V |
probably benign |
Het |
| Vmn1r80 |
A |
T |
7: 11,927,121 (GRCm39) |
D77V |
probably damaging |
Het |
| Vmn2r74 |
T |
G |
7: 85,606,383 (GRCm39) |
H321P |
probably benign |
Het |
| Zfp638 |
T |
C |
6: 83,930,371 (GRCm39) |
|
probably null |
Het |
| Zwilch |
T |
A |
9: 64,060,856 (GRCm39) |
Q332L |
probably damaging |
Het |
| Zwilch |
G |
T |
9: 64,060,857 (GRCm39) |
Q332K |
probably 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 |
|
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 |
|
R4969:Kdm3b
|
UTSW |
18 |
34,955,428 (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'- AGCGGTGCCTGCTCTAAATG -3'
(R):5'- TGGCAAAGCGAATGTTGCG -3'
Sequencing Primer
(F):5'- CCTGCTCTAAATGCTTCTAGGATGG -3'
(R):5'- CAAAGCGAATGTTGCGGTTAATCTG -3'
|
| Posted On |
2014-09-17 |
Incidental Mutation