Incidental Mutation 'IGL02596:Kdm4b'
| ID |
299852 |
| 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 # |
IGL02596
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
56633062-56709870 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 56706706 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 899
(T899K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000084045
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025036]
[ENSMUST00000086835]
|
| AlphaFold |
Q91VY5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025036
AA Change: T906K
PolyPhen 2
Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000025036
Gene: ENSMUSG00000024201
AA Change: T906K
| 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: T899K
PolyPhen 2
Score 0.135 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000084045
Gene: ENSMUSG00000024201
AA Change: T899K
| 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: T363K
|
| SMART Domains |
Protein: ENSMUSP00000116789
Gene: ENSMUSG00000024201
AA Change: T363K
| 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 |
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310002L09Rik |
T |
G |
4: 73,868,904 (GRCm39) |
Q11H |
possibly damaging |
Het |
| Armcx5 |
T |
A |
X: 134,647,268 (GRCm39) |
I448K |
probably damaging |
Het |
| Atp4b |
T |
A |
8: 13,443,471 (GRCm39) |
Y69F |
possibly damaging |
Het |
| Ccdc7b |
T |
A |
8: 129,798,959 (GRCm39) |
V12E |
probably benign |
Het |
| Cdc5l |
C |
A |
17: 45,735,530 (GRCm39) |
|
probably benign |
Het |
| Clptm1l |
C |
T |
13: 73,761,785 (GRCm39) |
R330C |
probably benign |
Het |
| Cpq |
C |
T |
15: 33,213,160 (GRCm39) |
R60W |
probably damaging |
Het |
| Cpvl |
T |
C |
6: 53,908,995 (GRCm39) |
Y256C |
probably damaging |
Het |
| Cryzl2 |
A |
T |
1: 157,292,539 (GRCm39) |
D107V |
probably damaging |
Het |
| Cyp2e1 |
G |
A |
7: 140,350,031 (GRCm39) |
V239M |
probably damaging |
Het |
| Cyp2j7 |
T |
A |
4: 96,103,659 (GRCm39) |
D292V |
possibly damaging |
Het |
| Dcaf1 |
A |
G |
9: 106,740,220 (GRCm39) |
Y1202C |
probably damaging |
Het |
| Dnah3 |
T |
C |
7: 119,538,137 (GRCm39) |
N3616S |
probably benign |
Het |
| Enam |
A |
G |
5: 88,650,885 (GRCm39) |
D723G |
probably benign |
Het |
| Eps8l1 |
G |
A |
7: 4,473,871 (GRCm39) |
R226H |
probably damaging |
Het |
| Erich2 |
A |
G |
2: 70,343,147 (GRCm39) |
|
probably benign |
Het |
| Esyt3 |
A |
C |
9: 99,210,068 (GRCm39) |
L271V |
probably benign |
Het |
| Fer1l4 |
T |
C |
2: 155,881,052 (GRCm39) |
N838S |
probably benign |
Het |
| Gad1 |
T |
C |
2: 70,425,028 (GRCm39) |
Y441H |
probably damaging |
Het |
| Gja1 |
G |
T |
10: 56,264,348 (GRCm39) |
V236F |
possibly damaging |
Het |
| Gpr156 |
T |
C |
16: 37,799,086 (GRCm39) |
I100T |
probably benign |
Het |
| Hace1 |
A |
G |
10: 45,576,736 (GRCm39) |
T803A |
possibly damaging |
Het |
| Jagn1 |
G |
A |
6: 113,424,562 (GRCm39) |
V145I |
probably benign |
Het |
| Klk1b8 |
G |
A |
7: 43,602,187 (GRCm39) |
V40M |
probably damaging |
Het |
| Lyst |
G |
A |
13: 13,835,541 (GRCm39) |
C1741Y |
probably benign |
Het |
| Mast1 |
G |
T |
8: 85,644,400 (GRCm39) |
A843E |
probably benign |
Het |
| Mbd1 |
T |
A |
18: 74,409,868 (GRCm39) |
|
probably benign |
Het |
| Mdga1 |
A |
G |
17: 30,051,379 (GRCm39) |
|
probably benign |
Het |
| Mlh3 |
A |
G |
12: 85,287,732 (GRCm39) |
|
probably null |
Het |
| Or10ag53 |
C |
A |
2: 87,082,473 (GRCm39) |
T64K |
probably damaging |
Het |
| Or5b109 |
A |
T |
19: 13,211,763 (GRCm39) |
I50F |
probably damaging |
Het |
| Pwp1 |
A |
G |
10: 85,707,882 (GRCm39) |
|
probably null |
Het |
| Rbm12 |
C |
T |
2: 155,937,480 (GRCm39) |
|
probably benign |
Het |
| Slc12a7 |
T |
A |
13: 73,933,242 (GRCm39) |
V100E |
probably benign |
Het |
| Spata31e2 |
T |
A |
1: 26,723,083 (GRCm39) |
H699L |
probably benign |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Tgfb1i1 |
T |
A |
7: 127,848,068 (GRCm39) |
M1K |
probably null |
Het |
| Tubgcp6 |
T |
A |
15: 88,985,117 (GRCm39) |
E1657V |
probably damaging |
Het |
| Zfp770 |
A |
G |
2: 114,026,308 (GRCm39) |
V587A |
probably benign |
Het |
| Zxdc |
A |
G |
6: 90,350,691 (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 |
|
|
IGL02151:Kdm4b
|
APN |
17 |
56,703,234 (GRCm39) |
missense |
probably benign |
0.05 |
|
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