Incidental Mutation 'IGL01293:Kdm4b'
| ID |
72996 |
| 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 # |
IGL01293
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
56633062-56709870 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 56660019 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 62
(D62G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025036
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025036]
[ENSMUST00000086835]
[ENSMUST00000139679]
|
| AlphaFold |
Q91VY5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025036
AA Change: D62G
PolyPhen 2
Score 0.276 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000025036
Gene: ENSMUSG00000024201
AA Change: D62G
| 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: D62G
PolyPhen 2
Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000084045
Gene: ENSMUSG00000024201
AA Change: D62G
| 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
AA Change: D62G
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000118089
Gene: ENSMUSG00000024201
AA Change: D62G
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl3 |
A |
G |
4: 144,190,226 (GRCm39) |
V25A |
probably benign |
Het |
| Aadacl4fm5 |
G |
T |
4: 144,504,159 (GRCm39) |
H331N |
probably benign |
Het |
| Aagab |
T |
C |
9: 63,543,751 (GRCm39) |
V235A |
probably benign |
Het |
| Ash1l |
T |
C |
3: 88,890,836 (GRCm39) |
V905A |
probably benign |
Het |
| Atrx |
A |
G |
X: 104,919,801 (GRCm39) |
S641P |
probably benign |
Het |
| Bnc1 |
T |
C |
7: 81,624,237 (GRCm39) |
E330G |
probably damaging |
Het |
| Cenpq |
A |
T |
17: 41,244,067 (GRCm39) |
S4T |
possibly damaging |
Het |
| Clvs1 |
T |
A |
4: 9,281,559 (GRCm39) |
M1K |
probably null |
Het |
| Cul2 |
A |
G |
18: 3,419,426 (GRCm39) |
K196E |
probably damaging |
Het |
| Cyp2d10 |
A |
T |
15: 82,287,210 (GRCm39) |
V471E |
possibly damaging |
Het |
| Efhc2 |
T |
A |
X: 17,073,934 (GRCm39) |
I469L |
probably benign |
Het |
| Fhod3 |
C |
T |
18: 25,153,709 (GRCm39) |
|
probably benign |
Het |
| Gm1968 |
A |
G |
16: 29,777,632 (GRCm39) |
|
noncoding transcript |
Het |
| Hpdl |
T |
A |
4: 116,678,141 (GRCm39) |
T107S |
possibly damaging |
Het |
| Il1rl1 |
G |
A |
1: 40,485,376 (GRCm39) |
G276D |
possibly damaging |
Het |
| Irgq |
A |
G |
7: 24,233,149 (GRCm39) |
D330G |
probably damaging |
Het |
| Lama2 |
T |
C |
10: 27,107,632 (GRCm39) |
T793A |
probably benign |
Het |
| Lrrk2 |
T |
C |
15: 91,610,340 (GRCm39) |
F691L |
probably benign |
Het |
| Macf1 |
C |
T |
4: 123,365,104 (GRCm39) |
G1654E |
probably benign |
Het |
| Mgat4c |
A |
T |
10: 102,224,086 (GRCm39) |
Y100F |
probably benign |
Het |
| Ncapg |
A |
G |
5: 45,839,196 (GRCm39) |
N532S |
probably benign |
Het |
| Nfkb1 |
T |
C |
3: 135,296,600 (GRCm39) |
D782G |
probably damaging |
Het |
| Nthl1 |
G |
T |
17: 24,857,683 (GRCm39) |
C294F |
probably damaging |
Het |
| Obp2b |
A |
G |
2: 25,627,719 (GRCm39) |
H45R |
probably benign |
Het |
| Olfm1 |
A |
G |
2: 28,104,715 (GRCm39) |
E156G |
probably damaging |
Het |
| Or14j2 |
A |
G |
17: 37,886,308 (GRCm39) |
I2T |
probably benign |
Het |
| Or7g29 |
C |
A |
9: 19,286,632 (GRCm39) |
A182S |
probably benign |
Het |
| Otud6b |
A |
G |
4: 14,822,682 (GRCm39) |
|
probably benign |
Het |
| Patl2 |
T |
C |
2: 121,954,291 (GRCm39) |
T427A |
probably benign |
Het |
| Pdzd8 |
T |
A |
19: 59,288,218 (GRCm39) |
R1061W |
probably damaging |
Het |
| Plk3 |
A |
T |
4: 116,990,194 (GRCm39) |
L137* |
probably null |
Het |
| Rps6ka6 |
T |
C |
X: 110,360,059 (GRCm39) |
|
probably benign |
Het |
| Shank1 |
T |
C |
7: 44,003,660 (GRCm39) |
V1784A |
possibly damaging |
Het |
| Smc1b |
A |
T |
15: 85,016,099 (GRCm39) |
S14T |
probably damaging |
Het |
| Sox4 |
C |
A |
13: 29,136,664 (GRCm39) |
R114L |
probably damaging |
Het |
| Speg |
C |
T |
1: 75,364,746 (GRCm39) |
R221W |
probably damaging |
Het |
| Tram1l1 |
T |
C |
3: 124,115,788 (GRCm39) |
V316A |
probably benign |
Het |
| Virma |
G |
T |
4: 11,521,114 (GRCm39) |
K840N |
probably damaging |
Het |
| Vmn1r49 |
A |
T |
6: 90,049,394 (GRCm39) |
S203T |
probably damaging |
Het |
| Wdr1 |
T |
C |
5: 38,686,886 (GRCm39) |
T293A |
probably benign |
Het |
| Xirp2 |
C |
T |
2: 67,345,528 (GRCm39) |
P2590S |
possibly damaging |
Het |
| Zfp106 |
T |
C |
2: 120,365,516 (GRCm39) |
Y297C |
possibly damaging |
Het |
| Zfp128 |
A |
G |
7: 12,625,351 (GRCm39) |
*573W |
probably null |
Het |
| Zfp575 |
G |
A |
7: 24,285,182 (GRCm39) |
P153L |
probably damaging |
Het |
|
| Other mutations in Kdm4b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
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 |
2013-10-07 |
Incidental Mutation