Incidental Mutation 'IGL02151:Kdm4b'
| ID |
281999 |
| 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 # |
IGL02151
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
56633062-56709870 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 56703234 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 643
(V643A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025036
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025036]
[ENSMUST00000086835]
|
| AlphaFold |
Q91VY5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025036
AA Change: V643A
PolyPhen 2
Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000025036
Gene: ENSMUSG00000024201
AA Change: V643A
| 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
AA Change: V636A
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000084045
Gene: ENSMUSG00000024201
AA Change: V636A
| 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 |
unknown
Transcript: ENSMUST00000141507
AA Change: V100A
|
| SMART Domains |
Protein: ENSMUSP00000116789
Gene: ENSMUSG00000024201
AA Change: V100A
| Domain | Start | End | E-Value | Type |
|---|
|
PHD
|
177 |
235 |
2.5e-5 |
SMART |
|
PHD
|
297 |
353 |
7.07e-5 |
SMART |
|
TUDOR
|
363 |
420 |
1.68e-9 |
SMART |
|
TUDOR
|
421 |
477 |
7.94e-11 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147489
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgra3 |
G |
T |
5: 50,136,484 (GRCm39) |
T667N |
probably benign |
Het |
| Aff4 |
T |
C |
11: 53,290,633 (GRCm39) |
I531T |
probably benign |
Het |
| Akap9 |
C |
T |
5: 4,082,728 (GRCm39) |
Q1951* |
probably null |
Het |
| Arhgef10 |
C |
T |
8: 14,978,889 (GRCm39) |
T52M |
possibly damaging |
Het |
| Atg2a |
A |
G |
19: 6,305,787 (GRCm39) |
E1132G |
possibly damaging |
Het |
| AW551984 |
A |
C |
9: 39,504,241 (GRCm39) |
I575S |
probably benign |
Het |
| Cfap299 |
C |
T |
5: 98,477,301 (GRCm39) |
T24M |
probably damaging |
Het |
| Cog7 |
T |
C |
7: 121,543,031 (GRCm39) |
E460G |
probably damaging |
Het |
| Ctse |
A |
G |
1: 131,600,273 (GRCm39) |
I341V |
probably benign |
Het |
| Dcpp1 |
A |
T |
17: 24,101,568 (GRCm39) |
I106L |
possibly damaging |
Het |
| Dcxr |
T |
A |
11: 120,616,809 (GRCm39) |
M158L |
probably benign |
Het |
| Dnah11 |
A |
T |
12: 118,023,623 (GRCm39) |
|
probably benign |
Het |
| Dnah7a |
T |
A |
1: 53,512,023 (GRCm39) |
I3013F |
probably benign |
Het |
| Dnah8 |
A |
G |
17: 30,867,391 (GRCm39) |
D281G |
possibly damaging |
Het |
| Dpysl3 |
G |
A |
18: 43,491,365 (GRCm39) |
H136Y |
probably damaging |
Het |
| Eaf1 |
C |
T |
14: 31,219,744 (GRCm39) |
T61M |
probably damaging |
Het |
| Fmnl1 |
A |
G |
11: 103,083,598 (GRCm39) |
T441A |
probably benign |
Het |
| Hmgcll1 |
C |
T |
9: 75,988,720 (GRCm39) |
P197L |
probably benign |
Het |
| Lrch2 |
A |
G |
X: 146,336,716 (GRCm39) |
F111L |
possibly damaging |
Het |
| Macf1 |
A |
T |
4: 123,265,559 (GRCm39) |
|
probably benign |
Het |
| Mfsd4b2 |
T |
C |
10: 39,797,687 (GRCm39) |
N223D |
probably damaging |
Het |
| Mug1 |
G |
A |
6: 121,861,649 (GRCm39) |
|
probably null |
Het |
| Nek7 |
A |
T |
1: 138,414,838 (GRCm39) |
L270Q |
probably damaging |
Het |
| Nexn |
T |
A |
3: 151,953,881 (GRCm39) |
D127V |
probably damaging |
Het |
| Nxf3 |
A |
G |
X: 134,980,322 (GRCm39) |
F130S |
probably damaging |
Het |
| Or11a4 |
T |
A |
17: 37,536,057 (GRCm39) |
F14I |
probably damaging |
Het |
| Or52ac1 |
A |
G |
7: 104,245,741 (GRCm39) |
S216P |
probably damaging |
Het |
| Pcdhb16 |
G |
A |
18: 37,611,411 (GRCm39) |
V124I |
possibly damaging |
Het |
| Podxl |
T |
C |
6: 31,501,394 (GRCm39) |
D387G |
possibly damaging |
Het |
| Prp2rt |
T |
A |
13: 97,235,682 (GRCm39) |
T22S |
probably null |
Het |
| Rab3d |
C |
A |
9: 21,827,020 (GRCm39) |
R70M |
probably damaging |
Het |
| Ripk2 |
A |
T |
4: 16,139,240 (GRCm39) |
M219K |
possibly damaging |
Het |
| Rnf146 |
A |
G |
10: 29,223,349 (GRCm39) |
V179A |
probably damaging |
Het |
| Robo1 |
G |
T |
16: 72,786,504 (GRCm39) |
V839L |
probably benign |
Het |
| Rttn |
T |
A |
18: 89,038,329 (GRCm39) |
N808K |
probably damaging |
Het |
| Slc12a3 |
T |
G |
8: 95,075,220 (GRCm39) |
V738G |
probably benign |
Het |
| Slc26a3 |
T |
C |
12: 31,497,830 (GRCm39) |
V78A |
probably damaging |
Het |
| Slc26a9 |
G |
A |
1: 131,691,781 (GRCm39) |
V675M |
probably damaging |
Het |
| Sncb |
T |
A |
13: 54,910,509 (GRCm39) |
I76F |
probably benign |
Het |
| Stat4 |
G |
A |
1: 52,053,029 (GRCm39) |
R70H |
probably damaging |
Het |
| Tle6 |
T |
C |
10: 81,434,474 (GRCm39) |
M42V |
probably benign |
Het |
| Tmem67 |
T |
C |
4: 12,068,882 (GRCm39) |
T439A |
probably benign |
Het |
| Ugt2b35 |
C |
A |
5: 87,151,141 (GRCm39) |
T249K |
possibly damaging |
Het |
| Vmn1r231 |
C |
T |
17: 21,109,997 (GRCm39) |
R306K |
probably benign |
Het |
| Vmn1r42 |
A |
T |
6: 89,822,023 (GRCm39) |
I182N |
possibly damaging |
Het |
| Zfhx3 |
T |
C |
8: 109,520,515 (GRCm39) |
S546P |
probably damaging |
Het |
| Zic3 |
G |
T |
X: 57,076,899 (GRCm39) |
|
probably null |
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 |
|
IGL01408:Kdm4b
|
APN |
17 |
56,660,518 (GRCm39) |
splice site |
probably benign |
|
|
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 |
|
|
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 |
2015-04-16 |
Incidental Mutation