Incidental Mutation 'IGL01408:Kdm4b'
ID |
79897 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Kdm4b
|
Ensembl Gene |
ENSMUSG00000024201 |
Gene Name |
lysine (K)-specific demethylase 4B |
Synonyms |
Jmjd2b, 4732474L06Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01408
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
56633062-56709870 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to C
at 56660518 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000118089
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025036]
[ENSMUST00000086835]
[ENSMUST00000139679]
|
AlphaFold |
Q91VY5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000025036
|
SMART Domains |
Protein: ENSMUSP00000025036 Gene: ENSMUSG00000024201
Domain | Start | End | E-Value | Type |
JmjN
|
14 |
56 |
5.88e-17 |
SMART |
low complexity region
|
61 |
68 |
N/A |
INTRINSIC |
JmjC
|
143 |
309 |
1.19e-59 |
SMART |
low complexity region
|
349 |
361 |
N/A |
INTRINSIC |
low complexity region
|
380 |
399 |
N/A |
INTRINSIC |
low complexity region
|
443 |
449 |
N/A |
INTRINSIC |
low complexity region
|
481 |
495 |
N/A |
INTRINSIC |
low complexity region
|
511 |
537 |
N/A |
INTRINSIC |
PHD
|
719 |
777 |
2.5e-5 |
SMART |
PHD
|
839 |
895 |
7.07e-5 |
SMART |
TUDOR
|
905 |
962 |
1.68e-9 |
SMART |
TUDOR
|
963 |
1019 |
7.94e-11 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000086835
|
SMART Domains |
Protein: ENSMUSP00000084045 Gene: ENSMUSG00000024201
Domain | Start | End | E-Value | Type |
JmjN
|
14 |
56 |
5.88e-17 |
SMART |
low complexity region
|
61 |
68 |
N/A |
INTRINSIC |
JmjC
|
143 |
309 |
1.19e-59 |
SMART |
low complexity region
|
349 |
361 |
N/A |
INTRINSIC |
low complexity region
|
380 |
399 |
N/A |
INTRINSIC |
low complexity region
|
443 |
449 |
N/A |
INTRINSIC |
low complexity region
|
481 |
495 |
N/A |
INTRINSIC |
low complexity region
|
511 |
537 |
N/A |
INTRINSIC |
PHD
|
712 |
770 |
2.5e-5 |
SMART |
PHD
|
832 |
888 |
7.07e-5 |
SMART |
TUDOR
|
898 |
954 |
2.31e-12 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000139679
|
SMART Domains |
Protein: ENSMUSP00000118089 Gene: ENSMUSG00000024201
Domain | Start | End | E-Value | Type |
JmjN
|
14 |
56 |
5.88e-17 |
SMART |
low complexity region
|
61 |
68 |
N/A |
INTRINSIC |
Pfam:JmjC
|
176 |
208 |
5.8e-13 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a targeted allele lacking demethylase activity exhibit no gross abnormalities. Mice homozygous for a conditional allele activated in mammary gland epithelial cells exhibit delayed mammary gland development with reduced branching. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9530068E07Rik |
A |
G |
11: 52,294,193 (GRCm39) |
R145G |
probably damaging |
Het |
Akr1c21 |
T |
A |
13: 4,627,431 (GRCm39) |
M175K |
probably benign |
Het |
Apol7a |
C |
T |
15: 77,273,530 (GRCm39) |
A311T |
probably damaging |
Het |
Atxn10 |
G |
T |
15: 85,260,896 (GRCm39) |
E214* |
probably null |
Het |
Bmp2k |
C |
T |
5: 97,234,823 (GRCm39) |
Q749* |
probably null |
Het |
Ccdc141 |
G |
A |
2: 76,876,023 (GRCm39) |
A669V |
probably benign |
Het |
Cndp2 |
A |
C |
18: 84,689,036 (GRCm39) |
C249G |
probably benign |
Het |
Cnr1 |
A |
G |
4: 33,944,802 (GRCm39) |
I397V |
possibly damaging |
Het |
Col19a1 |
T |
C |
1: 24,345,331 (GRCm39) |
|
probably benign |
Het |
Dbn1 |
T |
C |
13: 55,630,117 (GRCm39) |
|
probably benign |
Het |
Dmgdh |
C |
T |
13: 93,845,803 (GRCm39) |
P486S |
probably damaging |
Het |
Dpys |
A |
G |
15: 39,656,702 (GRCm39) |
V455A |
possibly damaging |
Het |
Farp2 |
A |
G |
1: 93,546,702 (GRCm39) |
N907S |
probably benign |
Het |
Fndc3c1 |
C |
T |
X: 105,476,378 (GRCm39) |
E894K |
probably benign |
Het |
Gm6685 |
A |
T |
11: 28,289,473 (GRCm39) |
N114K |
probably damaging |
Het |
Golga3 |
A |
T |
5: 110,365,675 (GRCm39) |
|
probably null |
Het |
Grin2c |
A |
G |
11: 115,151,708 (GRCm39) |
L84P |
probably damaging |
Het |
Gucy2c |
A |
G |
6: 136,675,009 (GRCm39) |
F1001L |
probably benign |
Het |
Hcn4 |
A |
G |
9: 58,767,169 (GRCm39) |
H910R |
unknown |
Het |
Lrrfip2 |
A |
G |
9: 111,043,284 (GRCm39) |
T497A |
probably benign |
Het |
Man2c1 |
A |
G |
9: 57,048,884 (GRCm39) |
Y924C |
probably damaging |
Het |
Nkain2 |
T |
A |
10: 32,278,237 (GRCm39) |
T63S |
probably damaging |
Het |
Nlrp1a |
T |
A |
11: 71,013,742 (GRCm39) |
T503S |
probably benign |
Het |
Or52n3 |
T |
C |
7: 104,530,037 (GRCm39) |
V41A |
probably benign |
Het |
Or52n4 |
T |
A |
7: 104,294,136 (GRCm39) |
I146F |
possibly damaging |
Het |
Pitrm1 |
T |
A |
13: 6,623,078 (GRCm39) |
C780S |
probably damaging |
Het |
Plekha5 |
C |
T |
6: 140,516,042 (GRCm39) |
|
probably benign |
Het |
Rapgef4 |
C |
T |
2: 72,005,185 (GRCm39) |
R193* |
probably null |
Het |
Rbm20 |
A |
G |
19: 53,840,044 (GRCm39) |
E1011G |
possibly damaging |
Het |
Rfx3 |
A |
T |
19: 27,746,050 (GRCm39) |
D685E |
probably benign |
Het |
Ror1 |
T |
C |
4: 100,190,984 (GRCm39) |
S114P |
probably damaging |
Het |
Slc17a6 |
A |
G |
7: 51,318,863 (GRCm39) |
K502E |
probably benign |
Het |
Spink2 |
A |
T |
5: 77,359,174 (GRCm39) |
|
probably benign |
Het |
Sptb |
A |
T |
12: 76,659,921 (GRCm39) |
I993N |
possibly damaging |
Het |
Stxbp4 |
A |
G |
11: 90,512,475 (GRCm39) |
|
probably benign |
Het |
Tes |
A |
T |
6: 17,099,878 (GRCm39) |
Y291F |
probably damaging |
Het |
Tmtc4 |
G |
T |
14: 123,163,366 (GRCm39) |
|
probably benign |
Het |
Trpa1 |
T |
C |
1: 14,959,637 (GRCm39) |
E683G |
probably benign |
Het |
Vmn2r73 |
T |
C |
7: 85,521,455 (GRCm39) |
D171G |
probably benign |
Het |
Wbp11 |
A |
G |
6: 136,791,612 (GRCm39) |
|
probably benign |
Het |
Wfdc12 |
A |
G |
2: 164,031,581 (GRCm39) |
*86R |
probably null |
Het |
Zfp281 |
T |
C |
1: 136,553,853 (GRCm39) |
V277A |
probably damaging |
Het |
|
Other mutations in Kdm4b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01293:Kdm4b
|
APN |
17 |
56,660,019 (GRCm39) |
missense |
probably benign |
0.28 |
IGL01610:Kdm4b
|
APN |
17 |
56,660,522 (GRCm39) |
splice site |
probably benign |
|
IGL01936:Kdm4b
|
APN |
17 |
56,704,355 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01964:Kdm4b
|
APN |
17 |
56,696,256 (GRCm39) |
splice site |
probably null |
|
IGL02151:Kdm4b
|
APN |
17 |
56,703,234 (GRCm39) |
missense |
probably benign |
0.05 |
IGL02596:Kdm4b
|
APN |
17 |
56,706,706 (GRCm39) |
missense |
probably benign |
0.14 |
IGL02975:Kdm4b
|
APN |
17 |
56,682,996 (GRCm39) |
splice site |
probably null |
|
IGL03172:Kdm4b
|
APN |
17 |
56,708,649 (GRCm39) |
missense |
probably damaging |
0.98 |
Coelestinum
|
UTSW |
17 |
56,660,091 (GRCm39) |
missense |
probably benign |
0.31 |
mistflower
|
UTSW |
17 |
56,696,564 (GRCm39) |
missense |
possibly damaging |
0.65 |
R0193:Kdm4b
|
UTSW |
17 |
56,700,952 (GRCm39) |
missense |
probably benign |
0.04 |
R0311:Kdm4b
|
UTSW |
17 |
56,693,200 (GRCm39) |
missense |
probably benign |
0.42 |
R0331:Kdm4b
|
UTSW |
17 |
56,693,289 (GRCm39) |
splice site |
probably benign |
|
R1109:Kdm4b
|
UTSW |
17 |
56,706,430 (GRCm39) |
missense |
probably damaging |
0.99 |
R1499:Kdm4b
|
UTSW |
17 |
56,707,025 (GRCm39) |
missense |
probably damaging |
1.00 |
R1895:Kdm4b
|
UTSW |
17 |
56,704,340 (GRCm39) |
missense |
probably damaging |
1.00 |
R1985:Kdm4b
|
UTSW |
17 |
56,708,302 (GRCm39) |
missense |
probably damaging |
1.00 |
R2087:Kdm4b
|
UTSW |
17 |
56,696,564 (GRCm39) |
missense |
possibly damaging |
0.65 |
R2185:Kdm4b
|
UTSW |
17 |
56,700,750 (GRCm39) |
missense |
probably benign |
0.00 |
R2904:Kdm4b
|
UTSW |
17 |
56,662,884 (GRCm39) |
missense |
probably benign |
0.03 |
R3792:Kdm4b
|
UTSW |
17 |
56,662,944 (GRCm39) |
missense |
probably damaging |
1.00 |
R3897:Kdm4b
|
UTSW |
17 |
56,703,955 (GRCm39) |
missense |
probably damaging |
1.00 |
R4661:Kdm4b
|
UTSW |
17 |
56,706,459 (GRCm39) |
missense |
probably damaging |
1.00 |
R4685:Kdm4b
|
UTSW |
17 |
56,708,675 (GRCm39) |
missense |
probably benign |
0.06 |
R4716:Kdm4b
|
UTSW |
17 |
56,693,178 (GRCm39) |
missense |
probably benign |
0.10 |
R4790:Kdm4b
|
UTSW |
17 |
56,708,618 (GRCm39) |
missense |
probably damaging |
0.97 |
R4864:Kdm4b
|
UTSW |
17 |
56,660,091 (GRCm39) |
missense |
probably benign |
0.31 |
R5700:Kdm4b
|
UTSW |
17 |
56,658,700 (GRCm39) |
missense |
possibly damaging |
0.93 |
R5963:Kdm4b
|
UTSW |
17 |
56,706,732 (GRCm39) |
missense |
probably damaging |
1.00 |
R6003:Kdm4b
|
UTSW |
17 |
56,703,916 (GRCm39) |
missense |
probably damaging |
1.00 |
R6029:Kdm4b
|
UTSW |
17 |
56,703,576 (GRCm39) |
missense |
probably damaging |
0.98 |
R6769:Kdm4b
|
UTSW |
17 |
56,658,754 (GRCm39) |
missense |
possibly damaging |
0.54 |
R6771:Kdm4b
|
UTSW |
17 |
56,658,754 (GRCm39) |
missense |
possibly damaging |
0.54 |
R6927:Kdm4b
|
UTSW |
17 |
56,706,435 (GRCm39) |
missense |
probably damaging |
1.00 |
R7041:Kdm4b
|
UTSW |
17 |
56,703,592 (GRCm39) |
missense |
probably damaging |
0.96 |
R7230:Kdm4b
|
UTSW |
17 |
56,676,155 (GRCm39) |
missense |
probably damaging |
1.00 |
R7275:Kdm4b
|
UTSW |
17 |
56,703,333 (GRCm39) |
missense |
probably damaging |
0.99 |
R7454:Kdm4b
|
UTSW |
17 |
56,696,639 (GRCm39) |
missense |
probably benign |
0.00 |
R7455:Kdm4b
|
UTSW |
17 |
56,703,657 (GRCm39) |
missense |
probably damaging |
0.98 |
R7457:Kdm4b
|
UTSW |
17 |
56,703,319 (GRCm39) |
missense |
probably damaging |
1.00 |
R8171:Kdm4b
|
UTSW |
17 |
56,696,534 (GRCm39) |
missense |
probably damaging |
0.99 |
R8367:Kdm4b
|
UTSW |
17 |
56,662,875 (GRCm39) |
missense |
probably damaging |
1.00 |
R8524:Kdm4b
|
UTSW |
17 |
56,706,384 (GRCm39) |
missense |
probably damaging |
1.00 |
R8810:Kdm4b
|
UTSW |
17 |
56,706,771 (GRCm39) |
missense |
probably damaging |
1.00 |
R9260:Kdm4b
|
UTSW |
17 |
56,701,775 (GRCm39) |
missense |
probably benign |
|
R9459:Kdm4b
|
UTSW |
17 |
56,706,509 (GRCm39) |
missense |
probably benign |
0.15 |
R9466:Kdm4b
|
UTSW |
17 |
56,696,548 (GRCm39) |
missense |
probably benign |
0.04 |
R9559:Kdm4b
|
UTSW |
17 |
56,693,228 (GRCm39) |
missense |
probably damaging |
1.00 |
X0024:Kdm4b
|
UTSW |
17 |
56,708,278 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2013-11-05 |