Incidental Mutation 'IGL02366:Kdm4a'
| ID |
290756 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Kdm4a
|
| Ensembl Gene |
ENSMUSG00000033326 |
| Gene Name |
lysine (K)-specific demethylase 4A |
| Synonyms |
D4Ertd222e, JHDM3A, Jmjd2a, Jmjd2 |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.631)
|
| Stock # |
IGL02366
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
117994154-118037240 bp(-) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
T to G
at 118017703 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102014
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050288]
[ENSMUST00000097911]
[ENSMUST00000106403]
[ENSMUST00000106406]
|
| AlphaFold |
Q8BW72 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000050288
|
| SMART Domains |
Protein: ENSMUSP00000062910
Gene: ENSMUSG00000033326
| Domain | Start | End | E-Value | Type |
|---|
|
JmjN
|
13 |
55 |
1.01e-20 |
SMART |
|
JmjC
|
142 |
308 |
3.57e-63 |
SMART |
|
low complexity region
|
461 |
487 |
N/A |
INTRINSIC |
|
low complexity region
|
502 |
525 |
N/A |
INTRINSIC |
|
low complexity region
|
619 |
637 |
N/A |
INTRINSIC |
|
PHD
|
709 |
767 |
4.93e-4 |
SMART |
|
PHD
|
829 |
885 |
1.54e-5 |
SMART |
|
TUDOR
|
897 |
954 |
2.87e-8 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000097911
|
| SMART Domains |
Protein: ENSMUSP00000095524
Gene: ENSMUSG00000033326
| Domain | Start | End | E-Value | Type |
|---|
|
JmjN
|
13 |
55 |
1.01e-20 |
SMART |
|
JmjC
|
142 |
308 |
3.57e-63 |
SMART |
|
low complexity region
|
461 |
487 |
N/A |
INTRINSIC |
|
low complexity region
|
502 |
525 |
N/A |
INTRINSIC |
|
low complexity region
|
619 |
637 |
N/A |
INTRINSIC |
|
PHD
|
709 |
767 |
4.93e-4 |
SMART |
|
PHD
|
829 |
885 |
1.54e-5 |
SMART |
|
TUDOR
|
897 |
954 |
2.41e-10 |
SMART |
|
TUDOR
|
955 |
1011 |
4.77e-14 |
SMART |
|
low complexity region
|
1032 |
1044 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000106403
|
| SMART Domains |
Protein: ENSMUSP00000102011
Gene: ENSMUSG00000033326
| Domain | Start | End | E-Value | Type |
|---|
|
JmjN
|
13 |
55 |
1.01e-20 |
SMART |
|
JmjC
|
142 |
308 |
3.57e-63 |
SMART |
|
low complexity region
|
461 |
487 |
N/A |
INTRINSIC |
|
low complexity region
|
502 |
525 |
N/A |
INTRINSIC |
|
low complexity region
|
619 |
637 |
N/A |
INTRINSIC |
|
PHD
|
709 |
767 |
4.93e-4 |
SMART |
|
PHD
|
829 |
885 |
1.54e-5 |
SMART |
|
TUDOR
|
897 |
954 |
2.41e-10 |
SMART |
|
TUDOR
|
955 |
1011 |
4.77e-14 |
SMART |
|
low complexity region
|
1032 |
1044 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000106406
|
| SMART Domains |
Protein: ENSMUSP00000102014
Gene: ENSMUSG00000033326
| Domain | Start | End | E-Value | Type |
|---|
|
JmjN
|
13 |
55 |
1.01e-20 |
SMART |
|
JmjC
|
142 |
308 |
3.57e-63 |
SMART |
|
low complexity region
|
461 |
487 |
N/A |
INTRINSIC |
|
low complexity region
|
502 |
525 |
N/A |
INTRINSIC |
|
low complexity region
|
619 |
637 |
N/A |
INTRINSIC |
|
PHD
|
709 |
767 |
4.93e-4 |
SMART |
|
PHD
|
829 |
885 |
1.54e-5 |
SMART |
|
TUDOR
|
897 |
954 |
2.41e-10 |
SMART |
|
TUDOR
|
955 |
1011 |
4.77e-14 |
SMART |
|
low complexity region
|
1032 |
1044 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157678
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000164821
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the Jumonji domain 2 (JMJD2) family and encodes a protein containing a JmjN domain, a JmjC domain, a JD2H domain, two TUDOR domains, and two PHD-type zinc fingers. This nuclear protein functions as a trimethylation-specific demethylase, converting specific trimethylated histone residues to the dimethylated form, and as a transcriptional repressor. [provided by RefSeq, Apr 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6030458C11Rik |
T |
A |
15: 12,810,859 (GRCm39) |
H339L |
probably benign |
Het |
| Abcc1 |
T |
C |
16: 14,285,843 (GRCm39) |
|
probably benign |
Het |
| Ankrd55 |
T |
C |
13: 112,454,994 (GRCm39) |
Y3H |
probably damaging |
Het |
| Armcx4 |
A |
C |
X: 133,592,261 (GRCm39) |
K723T |
possibly damaging |
Het |
| Brinp3 |
T |
A |
1: 146,577,481 (GRCm39) |
V172D |
possibly damaging |
Het |
| Cemip |
C |
T |
7: 83,592,849 (GRCm39) |
R1226Q |
probably benign |
Het |
| Cntn5 |
A |
T |
9: 9,984,060 (GRCm39) |
|
probably benign |
Het |
| Cyld |
T |
C |
8: 89,456,381 (GRCm39) |
V474A |
probably damaging |
Het |
| Dhx40 |
T |
C |
11: 86,667,528 (GRCm39) |
E537G |
probably damaging |
Het |
| Efhc1 |
A |
G |
1: 21,030,486 (GRCm39) |
N140D |
probably damaging |
Het |
| Eif6 |
A |
G |
2: 155,668,092 (GRCm39) |
V49A |
probably benign |
Het |
| Epha4 |
G |
T |
1: 77,403,348 (GRCm39) |
Y386* |
probably null |
Het |
| Ggnbp2 |
T |
C |
11: 84,732,427 (GRCm39) |
K222R |
probably damaging |
Het |
| Gm5117 |
T |
C |
8: 32,227,887 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5852 |
A |
T |
3: 93,634,568 (GRCm39) |
|
noncoding transcript |
Het |
| Hadha |
A |
G |
5: 30,340,048 (GRCm39) |
V243A |
probably benign |
Het |
| Hal |
A |
G |
10: 93,339,390 (GRCm39) |
N493S |
probably damaging |
Het |
| Insrr |
A |
G |
3: 87,717,216 (GRCm39) |
T731A |
possibly damaging |
Het |
| Irs4 |
A |
T |
X: 140,506,900 (GRCm39) |
L432H |
probably damaging |
Het |
| Lhx4 |
T |
C |
1: 155,580,934 (GRCm39) |
D197G |
possibly damaging |
Het |
| Mllt10 |
T |
A |
2: 18,069,898 (GRCm39) |
M18K |
probably damaging |
Het |
| Nars1 |
T |
C |
18: 64,636,599 (GRCm39) |
T422A |
possibly damaging |
Het |
| Ncf2 |
A |
G |
1: 152,710,824 (GRCm39) |
D445G |
probably benign |
Het |
| Ndor1 |
C |
A |
2: 25,137,993 (GRCm39) |
G544V |
possibly damaging |
Het |
| Notch3 |
C |
A |
17: 32,363,179 (GRCm39) |
R1268L |
probably benign |
Het |
| Or51ac3 |
A |
T |
7: 103,213,622 (GRCm39) |
V288D |
probably damaging |
Het |
| Or5b117 |
T |
C |
19: 13,431,491 (GRCm39) |
Y130C |
probably damaging |
Het |
| Or6c202 |
A |
T |
10: 128,996,494 (GRCm39) |
Y120N |
probably damaging |
Het |
| Or8g2 |
T |
C |
9: 39,821,288 (GRCm39) |
L63P |
probably damaging |
Het |
| Osgep |
T |
C |
14: 51,157,407 (GRCm39) |
D72G |
probably damaging |
Het |
| Pank4 |
C |
T |
4: 155,054,085 (GRCm39) |
T88I |
probably benign |
Het |
| Pcgf6 |
T |
C |
19: 47,038,894 (GRCm39) |
E122G |
possibly damaging |
Het |
| Ppp1r21 |
A |
G |
17: 88,855,090 (GRCm39) |
H123R |
probably damaging |
Het |
| Prex1 |
A |
C |
2: 166,422,347 (GRCm39) |
L28R |
probably damaging |
Het |
| Rbl1 |
A |
T |
2: 157,016,813 (GRCm39) |
N595K |
probably benign |
Het |
| Rnf148 |
T |
C |
6: 23,654,058 (GRCm39) |
I313V |
probably benign |
Het |
| Rnf220 |
T |
C |
4: 117,346,980 (GRCm39) |
N144S |
probably benign |
Het |
| Sbno2 |
G |
A |
10: 79,900,036 (GRCm39) |
T577I |
probably damaging |
Het |
| Sez6 |
T |
C |
11: 77,867,708 (GRCm39) |
I875T |
probably damaging |
Het |
| Slco1a5 |
A |
T |
6: 142,195,941 (GRCm39) |
V354D |
possibly damaging |
Het |
| Slit2 |
A |
T |
5: 48,461,410 (GRCm39) |
T1486S |
possibly damaging |
Het |
| Snd1 |
T |
C |
6: 28,707,149 (GRCm39) |
|
probably benign |
Het |
| Sval3 |
T |
C |
6: 41,946,659 (GRCm39) |
|
probably benign |
Het |
| Tmem94 |
T |
C |
11: 115,688,258 (GRCm39) |
L1239P |
probably damaging |
Het |
| Trpm6 |
T |
C |
19: 18,755,874 (GRCm39) |
|
probably benign |
Het |
| Ttc9 |
A |
C |
12: 81,678,384 (GRCm39) |
D69A |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,593,580 (GRCm39) |
L20687M |
probably benign |
Het |
| Zfp748 |
T |
A |
13: 67,693,546 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Kdm4a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01670:Kdm4a
|
APN |
4 |
118,017,698 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01845:Kdm4a
|
APN |
4 |
118,017,656 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL02009:Kdm4a
|
APN |
4 |
118,017,366 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02296:Kdm4a
|
APN |
4 |
118,034,662 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02606:Kdm4a
|
APN |
4 |
118,017,486 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02673:Kdm4a
|
APN |
4 |
118,025,769 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0245:Kdm4a
|
UTSW |
4 |
118,032,886 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0326:Kdm4a
|
UTSW |
4 |
118,018,903 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0551:Kdm4a
|
UTSW |
4 |
117,995,428 (GRCm39) |
makesense |
probably null |
|
|
R0603:Kdm4a
|
UTSW |
4 |
117,999,708 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0652:Kdm4a
|
UTSW |
4 |
118,032,886 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0799:Kdm4a
|
UTSW |
4 |
118,004,189 (GRCm39) |
splice site |
probably null |
|
|
R0847:Kdm4a
|
UTSW |
4 |
118,021,695 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1307:Kdm4a
|
UTSW |
4 |
118,032,839 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1572:Kdm4a
|
UTSW |
4 |
117,996,146 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1869:Kdm4a
|
UTSW |
4 |
117,996,068 (GRCm39) |
missense |
probably null |
1.00 |
|
R1902:Kdm4a
|
UTSW |
4 |
118,017,596 (GRCm39) |
missense |
probably benign |
0.38 |
|
R1903:Kdm4a
|
UTSW |
4 |
118,017,596 (GRCm39) |
missense |
probably benign |
0.38 |
|
R2135:Kdm4a
|
UTSW |
4 |
117,999,656 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3856:Kdm4a
|
UTSW |
4 |
118,010,428 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4687:Kdm4a
|
UTSW |
4 |
118,001,280 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4940:Kdm4a
|
UTSW |
4 |
118,018,951 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5115:Kdm4a
|
UTSW |
4 |
118,019,778 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R5229:Kdm4a
|
UTSW |
4 |
118,003,802 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5305:Kdm4a
|
UTSW |
4 |
118,017,698 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5423:Kdm4a
|
UTSW |
4 |
117,996,105 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5750:Kdm4a
|
UTSW |
4 |
117,999,396 (GRCm39) |
intron |
probably benign |
|
|
R5849:Kdm4a
|
UTSW |
4 |
118,019,037 (GRCm39) |
missense |
probably benign |
0.17 |
|
R5876:Kdm4a
|
UTSW |
4 |
117,996,073 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6564:Kdm4a
|
UTSW |
4 |
118,034,636 (GRCm39) |
missense |
probably benign |
0.18 |
|
R6772:Kdm4a
|
UTSW |
4 |
117,999,752 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6982:Kdm4a
|
UTSW |
4 |
118,010,636 (GRCm39) |
splice site |
probably null |
|
|
R7410:Kdm4a
|
UTSW |
4 |
118,001,115 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R7418:Kdm4a
|
UTSW |
4 |
118,017,440 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8808:Kdm4a
|
UTSW |
4 |
117,999,480 (GRCm39) |
missense |
unknown |
|
|
R8956:Kdm4a
|
UTSW |
4 |
118,019,013 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R8958:Kdm4a
|
UTSW |
4 |
117,999,573 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9233:Kdm4a
|
UTSW |
4 |
118,004,193 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9281:Kdm4a
|
UTSW |
4 |
117,995,728 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9647:Kdm4a
|
UTSW |
4 |
118,017,399 (GRCm39) |
missense |
probably benign |
|
|
R9647:Kdm4a
|
UTSW |
4 |
118,003,790 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1176:Kdm4a
|
UTSW |
4 |
118,034,699 (GRCm39) |
missense |
probably benign |
0.41 |
|
Z1176:Kdm4a
|
UTSW |
4 |
118,010,387 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Kdm4a
|
UTSW |
4 |
118,004,366 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation