Incidental Mutation 'IGL03143:Kdm3a'
ID |
410784 |
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 # |
IGL03143
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
71565954-71609963 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 71573845 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 906
(I906N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000145959
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065509]
[ENSMUST00000167220]
[ENSMUST00000205289]
[ENSMUST00000207023]
|
AlphaFold |
Q6PCM1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000065509
AA Change: I906N
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000065716 Gene: ENSMUSG00000053470 AA Change: I906N
Domain | Start | End | E-Value | Type |
low complexity region
|
853 |
859 |
N/A |
INTRINSIC |
JmjC
|
1060 |
1283 |
1.6e-56 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000167220
AA Change: I906N
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000128789 Gene: ENSMUSG00000053470 AA Change: I906N
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
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205470
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205505
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206339
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000207023
AA Change: I906N
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206798
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206357
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206916
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206582
|
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ackr2 |
T |
G |
9: 121,738,333 (GRCm39) |
L236R |
probably damaging |
Het |
Agbl1 |
C |
T |
7: 76,069,793 (GRCm39) |
Q442* |
probably null |
Het |
Ahrr |
G |
A |
13: 74,405,614 (GRCm39) |
Q108* |
probably null |
Het |
Ankrd23 |
T |
C |
1: 36,570,726 (GRCm39) |
|
probably benign |
Het |
Art5 |
A |
G |
7: 101,747,104 (GRCm39) |
I225T |
probably damaging |
Het |
Asxl3 |
T |
C |
18: 22,656,031 (GRCm39) |
V1347A |
probably benign |
Het |
Birc6 |
A |
G |
17: 74,905,994 (GRCm39) |
M1326V |
possibly damaging |
Het |
Bpifb6 |
A |
C |
2: 153,744,655 (GRCm39) |
N32T |
probably damaging |
Het |
Brip1 |
T |
A |
11: 85,952,653 (GRCm39) |
T1043S |
possibly damaging |
Het |
Cbx5 |
A |
T |
15: 103,121,532 (GRCm39) |
V35E |
probably damaging |
Het |
Ccdc175 |
T |
A |
12: 72,182,832 (GRCm39) |
M396L |
probably benign |
Het |
Ceacam3 |
G |
T |
7: 16,892,045 (GRCm39) |
E263* |
probably null |
Het |
Cyp4a12a |
A |
G |
4: 115,159,200 (GRCm39) |
T157A |
probably benign |
Het |
Dennd11 |
A |
T |
6: 40,399,828 (GRCm39) |
|
probably benign |
Het |
Derl3 |
T |
C |
10: 75,730,324 (GRCm39) |
V129A |
possibly damaging |
Het |
Dnajb1 |
T |
C |
8: 84,335,103 (GRCm39) |
I48T |
probably damaging |
Het |
Dop1b |
G |
A |
16: 93,556,543 (GRCm39) |
E349K |
probably benign |
Het |
Fkbp10 |
A |
T |
11: 100,313,580 (GRCm39) |
I285F |
probably benign |
Het |
Frrs1 |
A |
T |
3: 116,692,836 (GRCm39) |
T37S |
probably damaging |
Het |
Gata2 |
A |
G |
6: 88,181,677 (GRCm39) |
Y377C |
probably damaging |
Het |
Gm9789 |
T |
A |
16: 88,954,883 (GRCm39) |
|
probably benign |
Het |
Itpkb |
T |
A |
1: 180,160,933 (GRCm39) |
V353D |
probably benign |
Het |
Kcng4 |
T |
C |
8: 120,352,509 (GRCm39) |
E467G |
probably damaging |
Het |
Lama1 |
G |
A |
17: 68,111,531 (GRCm39) |
G2261R |
probably damaging |
Het |
Lamc1 |
A |
T |
1: 153,208,020 (GRCm39) |
L89Q |
probably benign |
Het |
Lef1 |
G |
T |
3: 130,993,965 (GRCm39) |
E314* |
probably null |
Het |
Lpin3 |
T |
C |
2: 160,745,518 (GRCm39) |
|
probably benign |
Het |
Mrtfb |
A |
G |
16: 13,218,676 (GRCm39) |
N452D |
possibly damaging |
Het |
Naaladl1 |
C |
T |
19: 6,164,896 (GRCm39) |
T628I |
possibly damaging |
Het |
Nell1 |
C |
T |
7: 49,929,281 (GRCm39) |
Q259* |
probably null |
Het |
Neu2 |
G |
T |
1: 87,524,698 (GRCm39) |
E228* |
probably null |
Het |
Or5b119 |
A |
T |
19: 13,456,835 (GRCm39) |
H242Q |
probably damaging |
Het |
Or5k15 |
A |
G |
16: 58,709,824 (GRCm39) |
F253S |
probably damaging |
Het |
Or8g21 |
T |
G |
9: 38,906,732 (GRCm39) |
|
probably benign |
Het |
Or8k20 |
T |
C |
2: 86,106,580 (GRCm39) |
N84D |
probably benign |
Het |
Osbpl6 |
T |
A |
2: 76,378,716 (GRCm39) |
D124E |
probably damaging |
Het |
Palm |
T |
C |
10: 79,652,617 (GRCm39) |
|
probably benign |
Het |
Parp8 |
C |
A |
13: 117,047,497 (GRCm39) |
|
probably benign |
Het |
Pax7 |
A |
G |
4: 139,556,798 (GRCm39) |
|
probably benign |
Het |
Pcnx3 |
G |
A |
19: 5,735,423 (GRCm39) |
R468W |
probably damaging |
Het |
Pds5b |
T |
A |
5: 150,702,722 (GRCm39) |
V818D |
probably damaging |
Het |
Piezo2 |
C |
T |
18: 63,241,147 (GRCm39) |
V694I |
probably damaging |
Het |
Plk1 |
A |
G |
7: 121,760,877 (GRCm39) |
|
probably benign |
Het |
Polb |
T |
C |
8: 23,130,367 (GRCm39) |
|
probably benign |
Het |
Rad54b |
A |
G |
4: 11,599,755 (GRCm39) |
T320A |
probably damaging |
Het |
Reg3b |
G |
A |
6: 78,349,183 (GRCm39) |
W103* |
probably null |
Het |
Slc17a3 |
T |
G |
13: 24,039,962 (GRCm39) |
|
probably null |
Het |
Snrnp200 |
C |
T |
2: 127,071,962 (GRCm39) |
|
probably benign |
Het |
Stox2 |
T |
A |
8: 47,646,839 (GRCm39) |
H207L |
possibly damaging |
Het |
Tbx15 |
A |
C |
3: 99,259,514 (GRCm39) |
M462L |
possibly damaging |
Het |
Tcirg1 |
G |
A |
19: 3,948,811 (GRCm39) |
T458I |
probably damaging |
Het |
Tnfrsf25 |
A |
G |
4: 152,201,384 (GRCm39) |
|
probably benign |
Het |
Trank1 |
A |
G |
9: 111,195,155 (GRCm39) |
K1060E |
probably damaging |
Het |
Ttc16 |
T |
C |
2: 32,664,457 (GRCm39) |
D3G |
possibly damaging |
Het |
Vmn1r199 |
A |
C |
13: 22,567,299 (GRCm39) |
N155H |
probably damaging |
Het |
Vmn1r202 |
G |
A |
13: 22,685,640 (GRCm39) |
T259I |
probably benign |
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 |
|
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 |
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 |
2016-08-02 |