Incidental Mutation 'IGL02427:Kdm3a'
| ID |
292979 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Kdm3a
|
| Ensembl Gene |
ENSMUSG00000053470 |
| Gene Name |
lysine (K)-specific demethylase 3A |
| Synonyms |
1700105C21Rik, Jmjd1, Jmjd1a, Tsga, C230043E16Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.961)
|
| Stock # |
IGL02427
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
71565954-71609963 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 71569184 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145959
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065509]
[ENSMUST00000167220]
[ENSMUST00000207023]
|
| AlphaFold |
Q6PCM1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000065509
|
| SMART Domains |
Protein: ENSMUSP00000065716
Gene: ENSMUSG00000053470
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
853 |
859 |
N/A |
INTRINSIC |
|
JmjC
|
1060 |
1283 |
1.6e-56 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167220
|
| SMART Domains |
Protein: ENSMUSP00000128789
Gene: ENSMUSG00000053470
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
853 |
859 |
N/A |
INTRINSIC |
|
JmjC
|
1060 |
1283 |
1.6e-56 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205470
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205505
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206339
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206357
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206582
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207023
|
| 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 encodes a zinc finger protein that contains a jumonji domain and may play a role in hormone-dependent transcriptional activation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009]
PHENOTYPE: Male mice homozygous for a hypomorphic allele display infertility, oligoasthenoteratozoospermia, small testis, and impaired spermiogenesis. Mice homozygous for a null allele exhibit abnormal spermatogenesis and obesity associated with hyperlipidemia. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930011G23Rik |
C |
T |
5: 99,381,829 (GRCm39) |
G311D |
probably damaging |
Het |
| Ablim1 |
A |
T |
19: 57,068,312 (GRCm39) |
|
probably benign |
Het |
| Adgrg2 |
T |
C |
X: 159,274,400 (GRCm39) |
F863S |
probably damaging |
Het |
| B3galt2 |
A |
T |
1: 143,522,254 (GRCm39) |
H130L |
probably benign |
Het |
| Bbs2 |
G |
A |
8: 94,807,746 (GRCm39) |
P378S |
possibly damaging |
Het |
| Ccdc154 |
A |
T |
17: 25,390,731 (GRCm39) |
|
probably null |
Het |
| Ccdc88c |
C |
T |
12: 100,887,851 (GRCm39) |
C1543Y |
probably damaging |
Het |
| Cdcp3 |
T |
A |
7: 130,846,517 (GRCm39) |
V647E |
probably damaging |
Het |
| Cfap77 |
A |
T |
2: 28,845,592 (GRCm39) |
C258* |
probably null |
Het |
| Cpsf4l |
T |
G |
11: 113,600,324 (GRCm39) |
|
probably benign |
Het |
| Csrnp3 |
G |
A |
2: 65,708,380 (GRCm39) |
|
probably benign |
Het |
| Cul9 |
G |
A |
17: 46,813,558 (GRCm39) |
T2305I |
possibly damaging |
Het |
| Cwf19l1 |
G |
A |
19: 44,121,462 (GRCm39) |
Q29* |
probably null |
Het |
| Cwf19l2 |
G |
T |
9: 3,456,817 (GRCm39) |
V717L |
probably benign |
Het |
| Cyp1a1 |
A |
G |
9: 57,607,858 (GRCm39) |
Y162C |
probably damaging |
Het |
| Dlg5 |
T |
C |
14: 24,216,275 (GRCm39) |
D589G |
probably damaging |
Het |
| Dmbt1 |
G |
T |
7: 130,689,815 (GRCm39) |
|
probably null |
Het |
| Dtna |
T |
C |
18: 23,784,595 (GRCm39) |
Y705H |
possibly damaging |
Het |
| Fancd2 |
T |
A |
6: 113,526,313 (GRCm39) |
|
probably null |
Het |
| Frem2 |
T |
A |
3: 53,443,184 (GRCm39) |
N2527Y |
probably damaging |
Het |
| Gm7694 |
T |
C |
1: 170,130,113 (GRCm39) |
D95G |
probably benign |
Het |
| Haus5 |
T |
C |
7: 30,361,196 (GRCm39) |
T115A |
probably benign |
Het |
| Klra6 |
T |
C |
6: 129,993,680 (GRCm39) |
D197G |
possibly damaging |
Het |
| Lap3 |
T |
C |
5: 45,668,475 (GRCm39) |
V429A |
probably damaging |
Het |
| Mroh2b |
G |
T |
15: 4,981,042 (GRCm39) |
|
probably benign |
Het |
| Myh9 |
T |
A |
15: 77,660,004 (GRCm39) |
Q88L |
probably damaging |
Het |
| Myo5a |
T |
C |
9: 75,083,900 (GRCm39) |
|
probably benign |
Het |
| Negr1 |
C |
T |
3: 156,267,827 (GRCm39) |
|
probably benign |
Het |
| Niban1 |
A |
T |
1: 151,593,025 (GRCm39) |
D570V |
probably damaging |
Het |
| Nlrp9b |
T |
G |
7: 19,776,426 (GRCm39) |
C337W |
probably damaging |
Het |
| Obscn |
A |
T |
11: 58,957,988 (GRCm39) |
C3780S |
probably damaging |
Het |
| Or1e19 |
A |
T |
11: 73,316,487 (GRCm39) |
F107L |
probably damaging |
Het |
| Piwil2 |
T |
A |
14: 70,635,583 (GRCm39) |
|
probably benign |
Het |
| Ppp6r3 |
T |
C |
19: 3,516,580 (GRCm39) |
S213G |
probably null |
Het |
| Pxdn |
T |
A |
12: 30,034,531 (GRCm39) |
C39S |
probably damaging |
Het |
| Raf1 |
T |
C |
6: 115,608,288 (GRCm39) |
N241S |
probably benign |
Het |
| Rapgef3 |
A |
T |
15: 97,645,017 (GRCm39) |
|
probably null |
Het |
| Rhox2h |
C |
T |
X: 36,854,526 (GRCm39) |
G72D |
probably benign |
Het |
| Sbf1 |
T |
C |
15: 89,190,188 (GRCm39) |
|
probably benign |
Het |
| Sema5a |
T |
C |
15: 32,673,690 (GRCm39) |
|
probably benign |
Het |
| Setbp1 |
T |
C |
18: 78,900,688 (GRCm39) |
D993G |
probably damaging |
Het |
| Slc5a4b |
A |
T |
10: 75,894,713 (GRCm39) |
C598S |
possibly damaging |
Het |
| Sorl1 |
T |
C |
9: 41,952,986 (GRCm39) |
D685G |
probably damaging |
Het |
| Sulf2 |
C |
T |
2: 165,931,218 (GRCm39) |
R263H |
probably damaging |
Het |
| Tbx22 |
C |
A |
X: 106,724,777 (GRCm39) |
P17T |
probably damaging |
Het |
| Tspoap1 |
A |
T |
11: 87,653,341 (GRCm39) |
T136S |
probably benign |
Het |
| Tyw5 |
T |
C |
1: 57,427,884 (GRCm39) |
E240G |
possibly damaging |
Het |
| Umodl1 |
C |
T |
17: 31,187,415 (GRCm39) |
|
probably benign |
Het |
| Vmn1r60 |
T |
C |
7: 5,547,780 (GRCm39) |
T107A |
probably damaging |
Het |
| Zbbx |
T |
C |
3: 75,046,905 (GRCm39) |
T121A |
probably benign |
Het |
| Zbtb11 |
A |
G |
16: 55,802,713 (GRCm39) |
D241G |
possibly damaging |
Het |
| Zfp445 |
T |
C |
9: 122,681,295 (GRCm39) |
H882R |
probably benign |
Het |
| Zscan30 |
T |
C |
18: 24,104,533 (GRCm39) |
|
noncoding transcript |
Het |
|
| Other mutations in Kdm3a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02168:Kdm3a
|
APN |
6 |
71,577,101 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02219:Kdm3a
|
APN |
6 |
71,577,718 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02423:Kdm3a
|
APN |
6 |
71,590,987 (GRCm39) |
splice site |
probably benign |
|
|
IGL02519:Kdm3a
|
APN |
6 |
71,588,570 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL03143:Kdm3a
|
APN |
6 |
71,573,845 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03279:Kdm3a
|
APN |
6 |
71,588,659 (GRCm39) |
missense |
probably benign |
|
|
R0194:Kdm3a
|
UTSW |
6 |
71,601,578 (GRCm39) |
missense |
probably null |
0.44 |
|
R0408:Kdm3a
|
UTSW |
6 |
71,588,663 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0426:Kdm3a
|
UTSW |
6 |
71,577,739 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0608:Kdm3a
|
UTSW |
6 |
71,597,030 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1175:Kdm3a
|
UTSW |
6 |
71,577,011 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1835:Kdm3a
|
UTSW |
6 |
71,590,940 (GRCm39) |
missense |
probably benign |
0.14 |
|
R3821:Kdm3a
|
UTSW |
6 |
71,588,661 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5083:Kdm3a
|
UTSW |
6 |
71,598,346 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5536:Kdm3a
|
UTSW |
6 |
71,588,920 (GRCm39) |
missense |
probably benign |
0.31 |
|
R5903:Kdm3a
|
UTSW |
6 |
71,609,234 (GRCm39) |
start gained |
probably benign |
|
|
R5965:Kdm3a
|
UTSW |
6 |
71,598,364 (GRCm39) |
missense |
probably benign |
0.21 |
|
R6236:Kdm3a
|
UTSW |
6 |
71,588,641 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6541:Kdm3a
|
UTSW |
6 |
71,571,517 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R6666:Kdm3a
|
UTSW |
6 |
71,588,974 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7090:Kdm3a
|
UTSW |
6 |
71,572,529 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R7112:Kdm3a
|
UTSW |
6 |
71,609,154 (GRCm39) |
missense |
probably benign |
|
|
R7136:Kdm3a
|
UTSW |
6 |
71,588,764 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7163:Kdm3a
|
UTSW |
6 |
71,609,061 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7608:Kdm3a
|
UTSW |
6 |
71,577,731 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7614:Kdm3a
|
UTSW |
6 |
71,568,937 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7683:Kdm3a
|
UTSW |
6 |
71,576,438 (GRCm39) |
missense |
probably benign |
|
|
R7687:Kdm3a
|
UTSW |
6 |
71,576,476 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R7868:Kdm3a
|
UTSW |
6 |
71,572,473 (GRCm39) |
missense |
probably benign |
0.31 |
|
R8447:Kdm3a
|
UTSW |
6 |
71,588,881 (GRCm39) |
missense |
probably benign |
|
|
R8476:Kdm3a
|
UTSW |
6 |
71,588,693 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8933:Kdm3a
|
UTSW |
6 |
71,577,092 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9046:Kdm3a
|
UTSW |
6 |
71,572,540 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9211:Kdm3a
|
UTSW |
6 |
71,573,674 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9569:Kdm3a
|
UTSW |
6 |
71,584,434 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9727:Kdm3a
|
UTSW |
6 |
71,569,094 (GRCm39) |
nonsense |
probably null |
|
|
RF053:Kdm3a
|
UTSW |
6 |
71,609,033 (GRCm39) |
critical splice donor site |
probably benign |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation