Incidental Mutation 'IGL02168:Kdm3a'
ID |
282790 |
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 # |
IGL02168
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
71565954-71609963 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 71577101 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 738
(V738A)
|
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: V738A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000065716 Gene: ENSMUSG00000053470 AA Change: V738A
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: V738A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000128789 Gene: ENSMUSG00000053470 AA Change: V738A
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: ENSMUST00000205289
AA Change: V738A
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
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 damaging
Transcript: ENSMUST00000207023
AA Change: V738A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206704
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206798
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206916
|
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: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2010007H06Rik |
T |
C |
9: 51,191,801 (GRCm39) |
|
probably benign |
Het |
6030468B19Rik |
T |
A |
11: 117,689,244 (GRCm39) |
|
probably benign |
Het |
Ankra2 |
G |
A |
13: 98,409,882 (GRCm39) |
|
probably benign |
Het |
Astn1 |
C |
A |
1: 158,436,911 (GRCm39) |
A823E |
possibly damaging |
Het |
Cfap43 |
T |
C |
19: 47,740,362 (GRCm39) |
|
probably benign |
Het |
Clec4b2 |
T |
A |
6: 123,181,156 (GRCm39) |
N180K |
probably damaging |
Het |
Col7a1 |
A |
G |
9: 108,813,143 (GRCm39) |
|
probably benign |
Het |
Dhrs7c |
T |
C |
11: 67,706,693 (GRCm39) |
F284L |
probably benign |
Het |
Dock1 |
T |
C |
7: 134,678,860 (GRCm39) |
|
probably benign |
Het |
Entpd5 |
A |
T |
12: 84,433,752 (GRCm39) |
|
probably null |
Het |
Heatr5b |
A |
T |
17: 79,139,020 (GRCm39) |
|
probably benign |
Het |
Klf10 |
A |
T |
15: 38,297,085 (GRCm39) |
F318L |
probably damaging |
Het |
Mcc |
A |
C |
18: 44,582,366 (GRCm39) |
I770S |
probably damaging |
Het |
Muc19 |
C |
T |
15: 91,778,292 (GRCm39) |
|
noncoding transcript |
Het |
Or9a4 |
A |
T |
6: 40,548,317 (GRCm39) |
|
probably benign |
Het |
Pcdh17 |
A |
G |
14: 84,770,635 (GRCm39) |
T1038A |
probably benign |
Het |
Pole2 |
A |
G |
12: 69,248,660 (GRCm39) |
|
probably benign |
Het |
Polr2c |
A |
G |
8: 95,584,394 (GRCm39) |
R36G |
probably damaging |
Het |
Ptgs2 |
A |
G |
1: 149,979,430 (GRCm39) |
|
probably null |
Het |
Scart1 |
A |
T |
7: 139,803,399 (GRCm39) |
H321L |
probably benign |
Het |
Taf5 |
A |
G |
19: 47,070,917 (GRCm39) |
D747G |
probably damaging |
Het |
Tll1 |
T |
G |
8: 64,507,001 (GRCm39) |
K580T |
possibly damaging |
Het |
Tmc3 |
A |
T |
7: 83,269,203 (GRCm39) |
N768I |
possibly damaging |
Het |
Top1 |
G |
T |
2: 160,546,893 (GRCm39) |
|
probably null |
Het |
Ubtf |
T |
C |
11: 102,204,994 (GRCm39) |
K97E |
probably damaging |
Het |
Vcl |
T |
C |
14: 21,057,355 (GRCm39) |
V509A |
probably benign |
Het |
Vmn2r110 |
A |
T |
17: 20,804,062 (GRCm39) |
|
probably benign |
Het |
Zfp106 |
A |
G |
2: 120,364,712 (GRCm39) |
V565A |
possibly damaging |
Het |
Zfp458 |
A |
T |
13: 67,406,098 (GRCm39) |
C111S |
probably damaging |
Het |
|
Other mutations in Kdm3a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |