Incidental Mutation 'R1523:Kdm3b'
ID |
167679 |
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 # |
R1523 (G1)
|
Quality Score |
219 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
34910100-34971713 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to C
at 34926226 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
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 null
Transcript: ENSMUST00000043775
|
SMART Domains |
Protein: ENSMUSP00000037628 Gene: ENSMUSG00000038773
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 null
Transcript: ENSMUST00000224715
|
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: 98.3%
- 10x: 96.3%
- 20x: 92.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 82 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700020L24Rik |
G |
T |
11: 83,331,232 (GRCm39) |
E48* |
probably null |
Het |
4930503B20Rik |
A |
G |
3: 146,356,864 (GRCm39) |
S15P |
probably damaging |
Het |
5530400C23Rik |
A |
G |
6: 133,271,256 (GRCm39) |
E100G |
possibly damaging |
Het |
Abcg2 |
T |
C |
6: 58,662,679 (GRCm39) |
F507S |
possibly damaging |
Het |
Adgrf5 |
A |
T |
17: 43,761,044 (GRCm39) |
Q913L |
probably benign |
Het |
Ak7 |
A |
T |
12: 105,732,867 (GRCm39) |
N537I |
probably benign |
Het |
Anks1 |
T |
A |
17: 28,270,629 (GRCm39) |
|
probably null |
Het |
Arhgap32 |
T |
A |
9: 32,168,048 (GRCm39) |
V677D |
probably damaging |
Het |
Ark2c |
G |
A |
18: 77,550,634 (GRCm39) |
T98I |
probably benign |
Het |
Arnt |
C |
T |
3: 95,396,965 (GRCm39) |
P466L |
possibly damaging |
Het |
Arrb1 |
T |
G |
7: 99,243,872 (GRCm39) |
L274R |
probably damaging |
Het |
Atf2 |
A |
T |
2: 73,693,552 (GRCm39) |
D3E |
probably damaging |
Het |
Baz2b |
C |
T |
2: 59,798,981 (GRCm39) |
R381Q |
possibly damaging |
Het |
Cacna1g |
C |
T |
11: 94,333,555 (GRCm39) |
|
probably null |
Het |
Ccr10 |
C |
T |
11: 101,064,501 (GRCm39) |
R343Q |
probably damaging |
Het |
Clca3a2 |
G |
T |
3: 144,777,405 (GRCm39) |
S822* |
probably null |
Het |
Col12a1 |
A |
T |
9: 79,568,278 (GRCm39) |
Y1649N |
probably benign |
Het |
Col23a1 |
G |
A |
11: 51,452,743 (GRCm39) |
|
probably null |
Het |
Cp |
T |
C |
3: 20,043,229 (GRCm39) |
Y1006H |
probably benign |
Het |
Ctbs |
A |
G |
3: 146,160,735 (GRCm39) |
T101A |
probably benign |
Het |
Cyp4a31 |
T |
C |
4: 115,426,951 (GRCm39) |
F170L |
probably benign |
Het |
Dock1 |
A |
C |
7: 134,345,976 (GRCm39) |
I173L |
possibly damaging |
Het |
Dock4 |
A |
G |
12: 40,743,024 (GRCm39) |
D393G |
possibly damaging |
Het |
Dsg1a |
T |
A |
18: 20,455,374 (GRCm39) |
S113T |
probably damaging |
Het |
Epha3 |
T |
C |
16: 63,431,311 (GRCm39) |
D530G |
probably damaging |
Het |
Erbb4 |
T |
A |
1: 68,435,411 (GRCm39) |
H162L |
possibly damaging |
Het |
Fam131c |
C |
T |
4: 141,110,142 (GRCm39) |
T180I |
probably benign |
Het |
Fndc1 |
A |
G |
17: 7,992,041 (GRCm39) |
S552P |
unknown |
Het |
Foxf1 |
A |
G |
8: 121,811,297 (GRCm39) |
|
probably null |
Het |
Frem2 |
T |
C |
3: 53,562,828 (GRCm39) |
T560A |
possibly damaging |
Het |
Gabra4 |
G |
A |
5: 71,790,975 (GRCm39) |
T289M |
probably damaging |
Het |
Gcnt1 |
A |
G |
19: 17,307,197 (GRCm39) |
V176A |
probably damaging |
Het |
Gemin8 |
G |
A |
X: 164,963,644 (GRCm39) |
S100N |
probably benign |
Het |
Gm1527 |
T |
C |
3: 28,974,567 (GRCm39) |
I460T |
probably damaging |
Het |
Gm6729 |
A |
G |
10: 86,376,039 (GRCm39) |
|
noncoding transcript |
Het |
Gprin2 |
T |
C |
14: 33,917,036 (GRCm39) |
S245G |
probably benign |
Het |
Gsdmc |
A |
T |
15: 63,675,479 (GRCm39) |
I112N |
probably damaging |
Het |
Hspb6 |
A |
G |
7: 30,252,848 (GRCm39) |
D30G |
probably benign |
Het |
Hydin |
A |
G |
8: 111,259,903 (GRCm39) |
D2625G |
probably benign |
Het |
Iqca1 |
C |
A |
1: 90,070,453 (GRCm39) |
G133V |
probably null |
Het |
Irf2 |
T |
A |
8: 47,290,875 (GRCm39) |
|
probably null |
Het |
Khdc3 |
G |
A |
9: 73,010,773 (GRCm39) |
E208K |
possibly damaging |
Het |
Kifc1 |
A |
T |
17: 34,102,636 (GRCm39) |
S263T |
probably benign |
Het |
Lrig3 |
C |
A |
10: 125,844,567 (GRCm39) |
T677K |
probably damaging |
Het |
Magec2 |
T |
A |
X: 61,334,512 (GRCm39) |
D177E |
probably benign |
Het |
Mapkapk3 |
A |
T |
9: 107,140,822 (GRCm39) |
|
probably null |
Het |
Mertk |
T |
C |
2: 128,632,248 (GRCm39) |
|
probably null |
Het |
Metrn |
A |
G |
17: 26,013,951 (GRCm39) |
*292R |
probably null |
Het |
Mllt6 |
G |
T |
11: 97,555,849 (GRCm39) |
A60S |
probably damaging |
Het |
Mmp21 |
T |
C |
7: 133,280,774 (GRCm39) |
I65M |
probably benign |
Het |
Myo7b |
A |
G |
18: 32,099,929 (GRCm39) |
L1651P |
probably damaging |
Het |
Nhsl1 |
A |
G |
10: 18,284,103 (GRCm39) |
S15G |
probably benign |
Het |
Nos1ap |
T |
C |
1: 170,165,687 (GRCm39) |
D192G |
probably benign |
Het |
Nrcam |
A |
G |
12: 44,619,032 (GRCm39) |
T844A |
probably damaging |
Het |
Pax4 |
A |
G |
6: 28,444,840 (GRCm39) |
L203P |
probably damaging |
Het |
Pbld2 |
T |
C |
10: 62,912,212 (GRCm39) |
I280T |
probably benign |
Het |
Pclo |
A |
G |
5: 14,838,420 (GRCm39) |
Y4681C |
unknown |
Het |
Phyhip |
T |
A |
14: 70,699,200 (GRCm39) |
M1K |
probably null |
Het |
Plppr4 |
T |
C |
3: 117,116,490 (GRCm39) |
N456D |
probably damaging |
Het |
Prpf31 |
T |
C |
7: 3,643,856 (GRCm39) |
Y473H |
probably damaging |
Het |
Rapgef2 |
A |
T |
3: 79,000,056 (GRCm39) |
V564D |
probably damaging |
Het |
Rexo1 |
T |
C |
10: 80,378,585 (GRCm39) |
S1123G |
probably benign |
Het |
Rnasel |
C |
A |
1: 153,631,759 (GRCm39) |
Q513K |
probably damaging |
Het |
Rnf213 |
T |
C |
11: 119,332,714 (GRCm39) |
V2641A |
probably damaging |
Het |
Rnf40 |
G |
T |
7: 127,189,787 (GRCm39) |
R184L |
probably damaging |
Het |
Rnf8 |
A |
G |
17: 29,845,946 (GRCm39) |
K179R |
probably damaging |
Het |
Sipa1l2 |
C |
T |
8: 126,174,352 (GRCm39) |
D1309N |
possibly damaging |
Het |
Slc25a38 |
T |
A |
9: 119,952,769 (GRCm39) |
M307K |
possibly damaging |
Het |
Snx33 |
T |
C |
9: 56,833,466 (GRCm39) |
D201G |
possibly damaging |
Het |
Sulf1 |
T |
A |
1: 12,887,574 (GRCm39) |
Y249* |
probably null |
Het |
Sult2a4 |
G |
A |
7: 13,643,785 (GRCm39) |
Q261* |
probably null |
Het |
Syndig1 |
G |
A |
2: 149,845,154 (GRCm39) |
A226T |
probably damaging |
Het |
Tcaf2 |
C |
T |
6: 42,601,385 (GRCm39) |
W891* |
probably null |
Het |
Tcf15 |
C |
A |
2: 151,985,808 (GRCm39) |
T88K |
probably damaging |
Het |
Tmem19 |
A |
T |
10: 115,183,122 (GRCm39) |
M117K |
probably damaging |
Het |
Trim32 |
T |
C |
4: 65,532,241 (GRCm39) |
L266P |
probably benign |
Het |
Vmn2r11 |
T |
C |
5: 109,201,707 (GRCm39) |
I266V |
probably benign |
Het |
Vmn2r73 |
A |
T |
7: 85,519,486 (GRCm39) |
Y491N |
probably benign |
Het |
Wrn |
C |
T |
8: 33,782,744 (GRCm39) |
E486K |
probably benign |
Het |
Zfp457 |
T |
C |
13: 67,441,501 (GRCm39) |
E262G |
probably damaging |
Het |
Zfp598 |
A |
G |
17: 24,897,603 (GRCm39) |
D308G |
probably null |
Het |
Zup1 |
T |
C |
10: 33,803,436 (GRCm39) |
I549M |
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 |
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'- TGTAACTGGAAGCAGCACTCCTGG -3'
(R):5'- AGCCTGTTAAGGAGGTAGCATGTAGAT -3'
Sequencing Primer
(F):5'- CAGCACTCCTGGGTTAAGGTTC -3'
(R):5'- aggccctggatttgatatctaac -3'
|
Posted On |
2014-04-13 |