Incidental Mutation 'R1585:Kdm3b'
| ID |
177475 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kdm3b
|
| Ensembl Gene |
ENSMUSG00000038773 |
| Gene Name |
KDM3B lysine (K)-specific demethylase 3B |
| Synonyms |
Jmjd1b, 5830462I21Rik, JHDM2B |
| MMRRC Submission |
039622-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.943)
|
| Stock # |
R1585 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
34910100-34971713 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 34942345 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 612
(D612G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153446
(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: D812G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000037628
Gene: ENSMUSG00000038773
AA Change: D812G
| 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: ENSMUST00000224065
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224715
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000225195
AA Change: D612G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.0963 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.1%
- 10x: 95.7%
- 20x: 91.2%
|
| Validation Efficiency |
95% (81/85) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310057J18Rik |
T |
A |
10: 28,858,518 (GRCm39) |
I50F |
possibly damaging |
Het |
| 4930505A04Rik |
T |
C |
11: 30,377,175 (GRCm39) |
|
probably benign |
Het |
| Aadat |
A |
T |
8: 60,979,714 (GRCm39) |
D192V |
possibly damaging |
Het |
| Akap12 |
A |
G |
10: 4,303,640 (GRCm39) |
D150G |
probably benign |
Het |
| Amigo3 |
A |
T |
9: 107,931,231 (GRCm39) |
N218I |
probably damaging |
Het |
| Ankmy1 |
A |
G |
1: 92,827,373 (GRCm39) |
S60P |
probably benign |
Het |
| Apol7e |
G |
A |
15: 77,602,029 (GRCm39) |
S209N |
probably damaging |
Het |
| AW551984 |
A |
T |
9: 39,510,632 (GRCm39) |
Y234* |
probably null |
Het |
| Bcam |
A |
T |
7: 19,494,111 (GRCm39) |
D393E |
probably damaging |
Het |
| Card9 |
A |
G |
2: 26,244,398 (GRCm39) |
L444P |
probably benign |
Het |
| Ccar1 |
T |
C |
10: 62,586,780 (GRCm39) |
E886G |
unknown |
Het |
| Ccnb2 |
A |
T |
9: 70,317,559 (GRCm39) |
|
probably null |
Het |
| Cd276 |
T |
C |
9: 58,442,838 (GRCm39) |
S206G |
probably damaging |
Het |
| Cds1 |
T |
A |
5: 101,965,828 (GRCm39) |
|
probably benign |
Het |
| Cfap96 |
G |
A |
8: 46,409,515 (GRCm39) |
S268L |
probably benign |
Het |
| Chuk |
T |
C |
19: 44,065,812 (GRCm39) |
S661G |
possibly damaging |
Het |
| Col17a1 |
T |
C |
19: 47,639,276 (GRCm39) |
N1090D |
probably benign |
Het |
| Col3a1 |
A |
T |
1: 45,367,026 (GRCm39) |
|
probably null |
Het |
| Crispld1 |
G |
T |
1: 17,821,024 (GRCm39) |
V355F |
possibly damaging |
Het |
| Cspg4 |
A |
T |
9: 56,806,151 (GRCm39) |
R2321W |
probably damaging |
Het |
| Dner |
T |
C |
1: 84,563,177 (GRCm39) |
T61A |
probably benign |
Het |
| Dnmt3a |
A |
T |
12: 3,951,660 (GRCm39) |
Y679F |
probably damaging |
Het |
| Dzip3 |
A |
T |
16: 48,798,241 (GRCm39) |
|
probably benign |
Het |
| Eif3l |
T |
C |
15: 78,968,381 (GRCm39) |
S217P |
possibly damaging |
Het |
| Fbxo42 |
T |
A |
4: 140,925,417 (GRCm39) |
|
probably benign |
Het |
| Fhod1 |
A |
T |
8: 106,063,957 (GRCm39) |
|
probably benign |
Het |
| Fzd1 |
T |
A |
5: 4,806,278 (GRCm39) |
I435F |
probably damaging |
Het |
| Gapvd1 |
C |
T |
2: 34,602,207 (GRCm39) |
V647I |
possibly damaging |
Het |
| Gm14496 |
T |
C |
2: 181,638,002 (GRCm39) |
S359P |
possibly damaging |
Het |
| Gm5218 |
C |
A |
15: 81,383,741 (GRCm39) |
|
noncoding transcript |
Het |
| Hnrnph3 |
A |
G |
10: 62,851,579 (GRCm39) |
|
probably null |
Het |
| Hsd17b12 |
G |
T |
2: 93,864,321 (GRCm39) |
T262K |
probably damaging |
Het |
| Igsf10 |
G |
C |
3: 59,237,838 (GRCm39) |
P781R |
probably damaging |
Het |
| Il11ra1 |
T |
A |
4: 41,768,207 (GRCm39) |
S373T |
probably damaging |
Het |
| Ldb1 |
T |
C |
19: 46,022,903 (GRCm39) |
T261A |
probably damaging |
Het |
| Lep |
C |
A |
6: 29,069,089 (GRCm39) |
H47N |
possibly damaging |
Het |
| Lrrtm2 |
A |
T |
18: 35,346,428 (GRCm39) |
S291R |
possibly damaging |
Het |
| Ncor2 |
T |
C |
5: 125,162,062 (GRCm39) |
Q404R |
unknown |
Het |
| Nlrp4d |
T |
C |
7: 10,116,437 (GRCm39) |
H148R |
probably benign |
Het |
| Nlrp9a |
T |
A |
7: 26,258,093 (GRCm39) |
D570E |
probably benign |
Het |
| Nphp3 |
G |
A |
9: 103,886,413 (GRCm39) |
V202I |
probably damaging |
Het |
| Nptn |
T |
A |
9: 58,548,073 (GRCm39) |
N159K |
probably benign |
Het |
| Or4a69 |
T |
A |
2: 89,313,315 (GRCm39) |
T55S |
probably benign |
Het |
| Or4a72 |
A |
T |
2: 89,405,746 (GRCm39) |
V108D |
possibly damaging |
Het |
| Or51f2 |
G |
A |
7: 102,526,980 (GRCm39) |
V218I |
probably benign |
Het |
| Or52a24 |
A |
T |
7: 103,381,585 (GRCm39) |
T151S |
possibly damaging |
Het |
| Or8b53 |
A |
T |
9: 38,667,716 (GRCm39) |
H244L |
probably damaging |
Het |
| Pcolce |
T |
A |
5: 137,608,769 (GRCm39) |
R13* |
probably null |
Het |
| Pdgfra |
A |
G |
5: 75,353,264 (GRCm39) |
Y1018C |
probably damaging |
Het |
| Prima1 |
A |
G |
12: 103,201,854 (GRCm39) |
S74P |
probably damaging |
Het |
| Prl7c1 |
A |
G |
13: 27,962,838 (GRCm39) |
L55P |
probably damaging |
Het |
| Rasef |
A |
G |
4: 73,658,574 (GRCm39) |
V513A |
probably damaging |
Het |
| Rgs1 |
T |
C |
1: 144,121,227 (GRCm39) |
|
probably null |
Het |
| Rlf |
T |
C |
4: 121,005,488 (GRCm39) |
E1164G |
probably benign |
Het |
| Rnf213 |
A |
T |
11: 119,354,171 (GRCm39) |
N4016I |
probably damaging |
Het |
| Sae1 |
C |
T |
7: 16,064,537 (GRCm39) |
|
probably null |
Het |
| Serping1 |
A |
T |
2: 84,601,848 (GRCm39) |
D207E |
probably benign |
Het |
| Setd2 |
T |
A |
9: 110,380,464 (GRCm39) |
D33E |
unknown |
Het |
| Simc1 |
T |
C |
13: 54,673,071 (GRCm39) |
M473T |
probably benign |
Het |
| Slc30a6 |
T |
A |
17: 74,725,610 (GRCm39) |
|
probably benign |
Het |
| Slc4a5 |
T |
C |
6: 83,242,669 (GRCm39) |
L346P |
probably damaging |
Het |
| Spef2 |
T |
A |
15: 9,596,660 (GRCm39) |
Q1473L |
probably damaging |
Het |
| St3gal3 |
G |
T |
4: 117,817,204 (GRCm39) |
A44D |
possibly damaging |
Het |
| Sv2b |
G |
T |
7: 74,797,425 (GRCm39) |
T323K |
probably damaging |
Het |
| Sycp2 |
T |
A |
2: 177,993,461 (GRCm39) |
N1228I |
possibly damaging |
Het |
| Thbs2 |
T |
A |
17: 14,910,030 (GRCm39) |
M190L |
probably benign |
Het |
| Tnrc6a |
G |
A |
7: 122,776,098 (GRCm39) |
V1190I |
probably benign |
Het |
| Utrn |
A |
T |
10: 12,312,029 (GRCm39) |
I673K |
possibly damaging |
Het |
| Vmn2r114 |
C |
T |
17: 23,510,675 (GRCm39) |
V602M |
probably damaging |
Het |
| Wdr7 |
A |
T |
18: 64,057,989 (GRCm39) |
I1273L |
probably benign |
Het |
| Zfp618 |
T |
C |
4: 63,051,175 (GRCm39) |
L652P |
probably damaging |
Het |
| Zfp804a |
G |
A |
2: 81,884,095 (GRCm39) |
|
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 |
|
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'- GCTCCTCAAAACCTTCAGTACCGTC -3'
(R):5'- CAAGCCCCGTTGGCTTTGTAATTC -3'
Sequencing Primer
(F):5'- TCTTTGGCAGGCACTCAG -3'
(R):5'- TGTTTGTGCTAGAGCAAAGACC -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation