Incidental Mutation 'R1061:Kdm3b'
| ID |
94558 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kdm3b
|
| Ensembl Gene |
ENSMUSG00000038773 |
| Gene Name |
KDM3B lysine (K)-specific demethylase 3B |
| Synonyms |
Jmjd1b, 5830462I21Rik, JHDM2B |
| MMRRC Submission |
039147-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.943)
|
| Stock # |
R1061 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
34910100-34971713 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 34929915 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 220
(V220M)
|
| 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: V220M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000037628
Gene: ENSMUSG00000038773
AA Change: V220M
| 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: V220M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225047
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000225195
AA Change: V220M
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225260
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.4%
- 20x: 93.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
C |
T |
2: 69,108,153 (GRCm39) |
A715T |
probably benign |
Het |
| Ampd2 |
A |
G |
3: 107,983,005 (GRCm39) |
Y641H |
probably damaging |
Het |
| Aqp4 |
A |
T |
18: 15,531,248 (GRCm39) |
V171E |
probably damaging |
Het |
| Arid4a |
T |
A |
12: 71,121,729 (GRCm39) |
S381R |
probably damaging |
Het |
| Armc8 |
T |
G |
9: 99,419,784 (GRCm39) |
N51H |
probably damaging |
Het |
| Asic5 |
T |
A |
3: 81,928,308 (GRCm39) |
Y424N |
probably damaging |
Het |
| Bcl11a |
A |
T |
11: 24,114,069 (GRCm39) |
K471* |
probably null |
Het |
| Birc6 |
A |
G |
17: 74,996,307 (GRCm39) |
T4494A |
probably damaging |
Het |
| Btbd9 |
A |
G |
17: 30,746,409 (GRCm39) |
I139T |
probably benign |
Het |
| Ccdc60 |
C |
A |
5: 116,310,527 (GRCm39) |
R178S |
possibly damaging |
Het |
| Cd163 |
C |
T |
6: 124,286,128 (GRCm39) |
A226V |
probably benign |
Het |
| Cibar2 |
C |
A |
8: 120,896,443 (GRCm39) |
|
probably null |
Het |
| Cog1 |
T |
G |
11: 113,542,863 (GRCm39) |
S170A |
probably benign |
Het |
| Cwc15 |
T |
C |
9: 14,419,211 (GRCm39) |
L169P |
probably damaging |
Het |
| Cyp3a25 |
A |
T |
5: 145,923,643 (GRCm39) |
D333E |
probably benign |
Het |
| Ddc |
C |
T |
11: 11,779,132 (GRCm39) |
V331I |
probably benign |
Het |
| Dlc1 |
T |
A |
8: 37,325,205 (GRCm39) |
T367S |
probably benign |
Het |
| Dnah17 |
T |
C |
11: 117,943,514 (GRCm39) |
D3183G |
possibly damaging |
Het |
| Eif2a |
T |
A |
3: 58,452,486 (GRCm39) |
Y165* |
probably null |
Het |
| Eml6 |
T |
C |
11: 29,727,267 (GRCm39) |
D1285G |
probably damaging |
Het |
| Fasn |
T |
C |
11: 120,713,008 (GRCm39) |
|
probably null |
Het |
| Fbn1 |
T |
C |
2: 125,187,883 (GRCm39) |
T1549A |
probably benign |
Het |
| Fezf2 |
T |
C |
14: 12,342,713 (GRCm38) |
Y384C |
probably damaging |
Het |
| Flvcr1 |
A |
T |
1: 190,740,370 (GRCm39) |
V550E |
probably benign |
Het |
| Gcm2 |
A |
G |
13: 41,259,347 (GRCm39) |
W41R |
probably damaging |
Het |
| Gli2 |
A |
T |
1: 118,782,247 (GRCm39) |
M160K |
possibly damaging |
Het |
| Gpr61 |
C |
T |
3: 108,057,623 (GRCm39) |
R346H |
probably damaging |
Het |
| Hoxa5 |
A |
T |
6: 52,181,135 (GRCm39) |
S66T |
probably benign |
Het |
| Hsph1 |
A |
T |
5: 149,541,883 (GRCm39) |
V781D |
possibly damaging |
Het |
| Klhl25 |
T |
A |
7: 75,516,268 (GRCm39) |
Y391* |
probably null |
Het |
| Mc2r |
A |
T |
18: 68,540,880 (GRCm39) |
Y138N |
probably damaging |
Het |
| Mtap |
C |
A |
4: 89,074,821 (GRCm39) |
D106E |
probably benign |
Het |
| Nup43 |
G |
T |
10: 7,543,435 (GRCm39) |
W37L |
probably damaging |
Het |
| Nxpe2 |
T |
A |
9: 48,237,663 (GRCm39) |
E197D |
probably damaging |
Het |
| Odad1 |
T |
C |
7: 45,591,179 (GRCm39) |
I218T |
probably damaging |
Het |
| Or10d1c |
C |
A |
9: 38,893,779 (GRCm39) |
C187F |
probably damaging |
Het |
| Or55b4 |
T |
A |
7: 102,133,321 (GRCm39) |
*335C |
probably null |
Het |
| Or5p60 |
T |
C |
7: 107,723,663 (GRCm39) |
Y269C |
probably damaging |
Het |
| Or8h8 |
A |
T |
2: 86,753,126 (GRCm39) |
V250D |
possibly damaging |
Het |
| Pitrm1 |
A |
G |
13: 6,605,611 (GRCm39) |
H186R |
probably damaging |
Het |
| Pklr |
C |
T |
3: 89,052,188 (GRCm39) |
R467C |
probably damaging |
Het |
| Plxna2 |
A |
G |
1: 194,326,401 (GRCm39) |
N112D |
probably damaging |
Het |
| Ppp1r16a |
C |
T |
15: 76,577,869 (GRCm39) |
Q328* |
probably null |
Het |
| Ppp3cb |
A |
C |
14: 20,558,682 (GRCm39) |
|
probably null |
Het |
| R3hcc1l |
C |
T |
19: 42,571,865 (GRCm39) |
R135* |
probably null |
Het |
| Ralyl |
A |
C |
3: 14,180,761 (GRCm39) |
D68A |
probably damaging |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| S100a1 |
T |
C |
3: 90,418,619 (GRCm39) |
N65S |
probably damaging |
Het |
| Scn11a |
A |
T |
9: 119,624,729 (GRCm39) |
M531K |
probably damaging |
Het |
| Slc5a5 |
T |
A |
8: 71,342,865 (GRCm39) |
M232L |
probably benign |
Het |
| Tet3 |
A |
T |
6: 83,350,305 (GRCm39) |
N1054K |
probably damaging |
Het |
| Tg |
A |
G |
15: 66,570,408 (GRCm39) |
N1427D |
probably benign |
Het |
| Tns1 |
A |
C |
1: 73,956,831 (GRCm39) |
V530G |
probably damaging |
Het |
| Trcg1 |
C |
A |
9: 57,153,156 (GRCm39) |
Q600K |
possibly damaging |
Het |
| Tshz3 |
A |
G |
7: 36,468,131 (GRCm39) |
E40G |
probably damaging |
Het |
| Usp34 |
T |
C |
11: 23,334,420 (GRCm39) |
F1138S |
possibly damaging |
Het |
| Vmn2r26 |
C |
T |
6: 124,038,603 (GRCm39) |
T726I |
probably benign |
Het |
| Vmn2r97 |
A |
T |
17: 19,148,440 (GRCm39) |
R112* |
probably null |
Het |
| Vwa2 |
G |
T |
19: 56,897,426 (GRCm39) |
R577L |
probably benign |
Het |
| Vwa3b |
A |
C |
1: 37,196,511 (GRCm39) |
Q46P |
probably damaging |
Het |
| Wdr25 |
T |
A |
12: 108,958,725 (GRCm39) |
|
probably null |
Het |
| Wrap53 |
A |
G |
11: 69,453,226 (GRCm39) |
L405P |
probably damaging |
Het |
| Zfp629 |
C |
A |
7: 127,211,161 (GRCm39) |
W216L |
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 |
|
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 |
|
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'- ACAGTCCTGGGTCCCATCATTCATC -3'
(R):5'- CTTCCTGTGGATTCTATGCTGAGGC -3'
Sequencing Primer
(F):5'- GACACATTCAGCTTAGTGGC -3'
(R):5'- gcctcgaactcagaaatccac -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation