Incidental Mutation 'IGL02219:Kdm3a'
ID |
285041 |
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 # |
IGL02219
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
71565954-71609963 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 71577718 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 694
(N694S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000145719
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065509]
[ENSMUST00000167220]
[ENSMUST00000205289]
[ENSMUST00000207023]
|
AlphaFold |
Q6PCM1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000065509
AA Change: N694S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000065716 Gene: ENSMUSG00000053470 AA Change: N694S
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
AA Change: N694S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000128789 Gene: ENSMUSG00000053470 AA Change: N694S
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: ENSMUST00000205289
AA Change: N694S
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205470
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205505
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206050
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206339
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000207023
AA Change: N694S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206916
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206704
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206798
|
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 |
A730013G03Rik |
A |
T |
1: 192,515,691 (GRCm39) |
|
noncoding transcript |
Het |
Abcb10 |
G |
A |
8: 124,681,166 (GRCm39) |
H677Y |
probably benign |
Het |
Ager |
T |
C |
17: 34,819,094 (GRCm39) |
V314A |
probably damaging |
Het |
Asxl3 |
A |
G |
18: 22,586,683 (GRCm39) |
M158V |
possibly damaging |
Het |
Atp1a2 |
G |
A |
1: 172,107,298 (GRCm39) |
Q741* |
probably null |
Het |
Atp1a2 |
A |
T |
1: 172,107,285 (GRCm39) |
M745K |
probably damaging |
Het |
Begain |
A |
G |
12: 108,999,656 (GRCm39) |
S577P |
probably benign |
Het |
Brd8 |
C |
T |
18: 34,735,780 (GRCm39) |
S899N |
probably damaging |
Het |
Camk2b |
A |
G |
11: 5,926,872 (GRCm39) |
L497P |
possibly damaging |
Het |
Cand2 |
T |
A |
6: 115,780,773 (GRCm39) |
I1219N |
probably damaging |
Het |
Cckbr |
T |
A |
7: 105,083,255 (GRCm39) |
Y153N |
probably damaging |
Het |
Cep250 |
T |
G |
2: 155,833,514 (GRCm39) |
V1812G |
probably benign |
Het |
Cyp2c39 |
A |
T |
19: 39,556,643 (GRCm39) |
|
probably benign |
Het |
Ddx43 |
T |
A |
9: 78,324,001 (GRCm39) |
M444K |
probably damaging |
Het |
Dnm1 |
A |
T |
2: 32,213,462 (GRCm39) |
M506K |
probably benign |
Het |
Duox2 |
A |
T |
2: 122,125,145 (GRCm39) |
H352Q |
probably benign |
Het |
Fcgbpl1 |
T |
C |
7: 27,854,060 (GRCm39) |
Y1675H |
probably damaging |
Het |
Fsip2 |
A |
G |
2: 82,808,174 (GRCm39) |
T1498A |
probably benign |
Het |
Gcn1 |
A |
T |
5: 115,751,826 (GRCm39) |
Q2067L |
possibly damaging |
Het |
Get4 |
G |
T |
5: 139,249,384 (GRCm39) |
|
probably null |
Het |
Gm6370 |
G |
A |
5: 146,430,453 (GRCm39) |
A213T |
possibly damaging |
Het |
Gpr135 |
T |
C |
12: 72,117,047 (GRCm39) |
Y240C |
probably damaging |
Het |
Gstm5 |
T |
A |
3: 107,805,347 (GRCm39) |
L145Q |
probably damaging |
Het |
Hoxb3 |
T |
C |
11: 96,236,986 (GRCm39) |
Y355H |
probably damaging |
Het |
Hsf2 |
A |
C |
10: 57,372,370 (GRCm39) |
K108Q |
probably damaging |
Het |
Lrpap1 |
G |
A |
5: 35,253,411 (GRCm39) |
|
probably benign |
Het |
Mapk8ip3 |
T |
C |
17: 25,118,532 (GRCm39) |
T1162A |
probably damaging |
Het |
Mettl14 |
T |
C |
3: 123,168,540 (GRCm39) |
|
probably benign |
Het |
Mrgprx1 |
T |
C |
7: 47,671,477 (GRCm39) |
Y90C |
probably benign |
Het |
Mybpc3 |
A |
T |
2: 90,951,368 (GRCm39) |
|
probably null |
Het |
Nup88 |
C |
T |
11: 70,860,518 (GRCm39) |
G87D |
probably benign |
Het |
Or5w20 |
A |
G |
2: 87,727,317 (GRCm39) |
Y258C |
possibly damaging |
Het |
Or7d9 |
A |
T |
9: 20,197,756 (GRCm39) |
T254S |
probably benign |
Het |
Or9i1 |
C |
T |
19: 13,839,187 (GRCm39) |
T10M |
probably damaging |
Het |
Pan2 |
G |
A |
10: 128,156,221 (GRCm39) |
E1133K |
probably benign |
Het |
Pcsk2 |
T |
C |
2: 143,635,045 (GRCm39) |
S307P |
probably damaging |
Het |
Pdgfa |
C |
T |
5: 138,971,950 (GRCm39) |
V150I |
probably damaging |
Het |
Phf12 |
T |
C |
11: 77,875,022 (GRCm39) |
C83R |
probably damaging |
Het |
Pla2g2c |
A |
G |
4: 138,463,319 (GRCm39) |
Y71C |
probably damaging |
Het |
Pou2f2 |
T |
A |
7: 24,797,107 (GRCm39) |
Q218L |
probably damaging |
Het |
Prl8a9 |
C |
T |
13: 27,743,353 (GRCm39) |
V151I |
possibly damaging |
Het |
Prop1 |
T |
C |
11: 50,842,911 (GRCm39) |
D92G |
probably damaging |
Het |
Rnf13 |
A |
G |
3: 57,703,644 (GRCm39) |
Y116C |
probably damaging |
Het |
Ro60 |
A |
G |
1: 143,637,013 (GRCm39) |
C400R |
possibly damaging |
Het |
Scrib |
T |
A |
15: 75,936,885 (GRCm39) |
K383* |
probably null |
Het |
Slc44a5 |
T |
C |
3: 153,944,796 (GRCm39) |
Y138H |
possibly damaging |
Het |
Stra6 |
G |
A |
9: 58,047,752 (GRCm39) |
V108M |
probably benign |
Het |
Tspan10 |
G |
T |
11: 120,337,198 (GRCm39) |
A323S |
probably benign |
Het |
Ttc22 |
T |
A |
4: 106,495,687 (GRCm39) |
V347D |
probably damaging |
Het |
Ugt1a10 |
C |
T |
1: 87,983,780 (GRCm39) |
L193F |
probably benign |
Het |
Vps13d |
G |
T |
4: 144,894,716 (GRCm39) |
H457N |
probably benign |
Het |
Vrtn |
A |
G |
12: 84,695,607 (GRCm39) |
Y119C |
probably damaging |
Het |
Xpnpep3 |
T |
C |
15: 81,311,657 (GRCm39) |
F121S |
probably damaging |
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 |
IGL02423:Kdm3a
|
APN |
6 |
71,590,987 (GRCm39) |
splice site |
probably benign |
|
IGL02427:Kdm3a
|
APN |
6 |
71,569,184 (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 |