Incidental Mutation 'R7026:Kdm3b'
| ID |
546002 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kdm3b
|
| Ensembl Gene |
ENSMUSG00000038773 |
| Gene Name |
KDM3B lysine (K)-specific demethylase 3B |
| Synonyms |
Jmjd1b, 5830462I21Rik, JHDM2B |
| MMRRC Submission |
045127-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.943)
|
| Stock # |
R7026 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
34910100-34971713 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 34955517 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 1135
(V1135I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037628
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043775]
[ENSMUST00000225195]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000043775
AA Change: V1135I
PolyPhen 2
Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000037628
Gene: ENSMUSG00000038773
AA Change: V1135I
| 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 |
possibly damaging
Transcript: ENSMUST00000225195
AA Change: V935I
PolyPhen 2
Score 0.700 (Sensitivity: 0.86; Specificity: 0.92)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
99% (69/70) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc2 |
A |
T |
19: 43,805,392 (GRCm39) |
M749L |
probably benign |
Het |
| Abcc2 |
A |
G |
19: 43,818,974 (GRCm39) |
N1321S |
probably benign |
Het |
| Acsm2 |
T |
A |
7: 119,191,450 (GRCm39) |
V506E |
probably damaging |
Het |
| Add2 |
G |
A |
6: 86,063,965 (GRCm39) |
R88Q |
probably benign |
Het |
| Adgra3 |
A |
G |
5: 50,118,083 (GRCm39) |
V1155A |
probably benign |
Het |
| Ahsg |
T |
A |
16: 22,710,963 (GRCm39) |
D33E |
probably damaging |
Het |
| Alox12b |
A |
T |
11: 69,048,131 (GRCm39) |
D20V |
possibly damaging |
Het |
| Alppl2 |
A |
G |
1: 87,017,420 (GRCm39) |
|
probably null |
Het |
| Ankfn1 |
A |
G |
11: 89,530,403 (GRCm39) |
*49Q |
probably null |
Het |
| Bcl11b |
T |
C |
12: 107,882,851 (GRCm39) |
D488G |
probably damaging |
Het |
| Bcl2l10 |
T |
A |
9: 75,258,364 (GRCm39) |
F175L |
probably benign |
Het |
| C2cd3 |
T |
A |
7: 100,081,299 (GRCm39) |
D127E |
probably damaging |
Het |
| Cacna1c |
C |
T |
6: 118,614,732 (GRCm39) |
V1311I |
probably damaging |
Het |
| Cd55b |
A |
T |
1: 130,316,427 (GRCm39) |
I374K |
probably benign |
Het |
| Cfap36 |
T |
C |
11: 29,172,565 (GRCm39) |
T267A |
probably benign |
Het |
| Cibar2 |
G |
A |
8: 120,895,324 (GRCm39) |
H193Y |
probably damaging |
Het |
| Cog1 |
T |
C |
11: 113,540,415 (GRCm39) |
L10P |
probably damaging |
Het |
| Dnah7a |
T |
A |
1: 53,543,448 (GRCm39) |
M2241L |
probably benign |
Het |
| Dock10 |
G |
T |
1: 80,479,504 (GRCm39) |
A1809E |
probably benign |
Het |
| Dock7 |
A |
T |
4: 98,967,156 (GRCm39) |
D255E |
probably benign |
Het |
| Exph5 |
T |
C |
9: 53,251,728 (GRCm39) |
F123L |
probably benign |
Het |
| Fbxw27 |
C |
A |
9: 109,617,146 (GRCm39) |
K118N |
possibly damaging |
Het |
| Fscb |
C |
A |
12: 64,518,391 (GRCm39) |
S1025I |
unknown |
Het |
| Get4 |
C |
T |
5: 139,238,358 (GRCm39) |
R47W |
possibly damaging |
Het |
| Gm3676 |
G |
A |
14: 41,366,072 (GRCm39) |
S81F |
probably benign |
Het |
| Gulp1 |
C |
T |
1: 44,820,245 (GRCm39) |
P251S |
possibly damaging |
Het |
| Hhatl |
T |
C |
9: 121,617,339 (GRCm39) |
D298G |
probably benign |
Het |
| Hsf2bp |
T |
A |
17: 32,252,254 (GRCm39) |
K60N |
possibly damaging |
Het |
| Ints4 |
T |
A |
7: 97,168,361 (GRCm39) |
V625D |
possibly damaging |
Het |
| Iqch |
T |
A |
9: 63,432,421 (GRCm39) |
K286* |
probably null |
Het |
| Irak1bp1 |
T |
A |
9: 82,712,084 (GRCm39) |
S2T |
possibly damaging |
Het |
| Lama3 |
C |
A |
18: 12,649,605 (GRCm39) |
N181K |
probably damaging |
Het |
| Lrfn2 |
T |
G |
17: 49,404,005 (GRCm39) |
S709R |
probably benign |
Het |
| Lrp12 |
T |
C |
15: 39,743,566 (GRCm39) |
H123R |
probably damaging |
Het |
| Lrp1b |
A |
G |
2: 41,159,234 (GRCm39) |
S1569P |
probably damaging |
Het |
| Lrp2 |
T |
G |
2: 69,352,131 (GRCm39) |
Q635P |
probably damaging |
Het |
| Mboat2 |
T |
C |
12: 24,998,381 (GRCm39) |
|
probably null |
Het |
| Mctp1 |
A |
G |
13: 76,954,378 (GRCm39) |
T596A |
probably benign |
Het |
| Mroh9 |
T |
A |
1: 162,888,251 (GRCm39) |
M275L |
probably benign |
Het |
| Ms4a10 |
A |
C |
19: 10,944,869 (GRCm39) |
|
probably null |
Het |
| Myo9a |
C |
T |
9: 59,722,617 (GRCm39) |
R560C |
probably damaging |
Het |
| Or11h4b |
A |
G |
14: 50,918,716 (GRCm39) |
I125T |
probably damaging |
Het |
| Or5b107 |
A |
G |
19: 13,142,779 (GRCm39) |
T134A |
probably benign |
Het |
| Or6z1 |
T |
A |
7: 6,504,820 (GRCm39) |
H135L |
probably damaging |
Het |
| Ormdl3 |
A |
G |
11: 98,474,808 (GRCm39) |
V45A |
possibly damaging |
Het |
| Parp4 |
T |
C |
14: 56,858,049 (GRCm39) |
Y894H |
probably benign |
Het |
| Pigo |
G |
A |
4: 43,023,380 (GRCm39) |
Q259* |
probably null |
Het |
| Prrc2a |
G |
A |
17: 35,380,803 (GRCm39) |
P70S |
unknown |
Het |
| Rab3ip |
A |
G |
10: 116,773,441 (GRCm39) |
I124T |
probably benign |
Het |
| Rap1b |
A |
G |
10: 117,654,384 (GRCm39) |
I21T |
probably benign |
Het |
| Rasgrf2 |
T |
A |
13: 92,131,732 (GRCm39) |
S642C |
probably damaging |
Het |
| Rb1 |
T |
C |
14: 73,535,539 (GRCm39) |
E106G |
probably benign |
Het |
| Reps1 |
C |
A |
10: 17,983,437 (GRCm39) |
R427S |
probably damaging |
Het |
| Rnf213 |
A |
C |
11: 119,370,481 (GRCm39) |
H4760P |
possibly damaging |
Het |
| Rtl1 |
A |
G |
12: 109,559,595 (GRCm39) |
I748T |
probably damaging |
Het |
| Sco1 |
A |
T |
11: 66,944,683 (GRCm39) |
K102M |
probably damaging |
Het |
| Sec16b |
T |
C |
1: 157,362,281 (GRCm39) |
M44T |
possibly damaging |
Het |
| Slc7a10 |
T |
C |
7: 34,898,139 (GRCm39) |
M297T |
probably damaging |
Het |
| Smchd1 |
T |
C |
17: 71,656,662 (GRCm39) |
H1935R |
probably benign |
Het |
| Sowaha |
G |
A |
11: 53,370,050 (GRCm39) |
R229W |
probably damaging |
Het |
| Sptlc3 |
A |
T |
2: 139,379,608 (GRCm39) |
M83L |
probably benign |
Het |
| Tbc1d9 |
T |
C |
8: 83,968,192 (GRCm39) |
V431A |
probably benign |
Het |
| Tmem98 |
A |
G |
11: 80,712,214 (GRCm39) |
E217G |
possibly damaging |
Het |
| Trim13 |
T |
A |
14: 61,842,562 (GRCm39) |
L193* |
probably null |
Het |
| Trp53bp2 |
T |
C |
1: 182,270,300 (GRCm39) |
S367P |
probably benign |
Het |
| Tsc2 |
T |
G |
17: 24,845,713 (GRCm39) |
I202L |
probably damaging |
Het |
| Twf2 |
T |
A |
9: 106,092,079 (GRCm39) |
V312E |
probably damaging |
Het |
| Usp34 |
G |
T |
11: 23,311,622 (GRCm39) |
L471F |
probably damaging |
Het |
| Vps37c |
A |
G |
19: 10,683,632 (GRCm39) |
D18G |
probably damaging |
Het |
| Zfp1010 |
T |
A |
2: 176,957,361 (GRCm39) |
I46F |
probably benign |
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 |
|
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 |
|
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'- GCATAATCCCAGCTCTCTGC -3'
(R):5'- ACTTAACGTGGCTGGGGTTC -3'
Sequencing Primer
(F):5'- TCCTCCTCAGGACCTCAAAGG -3'
(R):5'- ACCCTTCTACCTCAGTGCTG -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation