Incidental Mutation 'R7683:Kdm3a'
ID |
592868 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kdm3a
|
Ensembl Gene |
ENSMUSG00000053470 |
Gene Name |
lysine (K)-specific demethylase 3A |
Synonyms |
1700105C21Rik, Jmjd1, Jmjd1a, Tsga, C230043E16Rik |
MMRRC Submission |
045749-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.961)
|
Stock # |
R7683 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
71565954-71609963 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 71576438 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 792
(V792A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000065716
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065509]
[ENSMUST00000167220]
[ENSMUST00000205289]
[ENSMUST00000207023]
|
AlphaFold |
Q6PCM1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000065509
AA Change: V792A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000065716 Gene: ENSMUSG00000053470 AA Change: V792A
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: V792A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000128789 Gene: ENSMUSG00000053470 AA Change: V792A
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: V792A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206916
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000207023
AA Change: V792A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agtpbp1 |
A |
G |
13: 59,660,312 (GRCm39) |
C305R |
probably damaging |
Het |
Anpep |
C |
A |
7: 79,488,946 (GRCm39) |
V381L |
probably damaging |
Het |
Ap5s1 |
T |
C |
2: 131,054,627 (GRCm39) |
L146P |
probably damaging |
Het |
Arhgef11 |
A |
G |
3: 87,629,690 (GRCm39) |
I599V |
probably damaging |
Het |
Arpc2 |
T |
C |
1: 74,302,973 (GRCm39) |
Y250H |
probably damaging |
Het |
Baz1b |
T |
A |
5: 135,246,582 (GRCm39) |
M677K |
probably damaging |
Het |
Begain |
C |
T |
12: 108,999,413 (GRCm39) |
A453T |
unknown |
Het |
C1ql4 |
T |
C |
15: 98,985,092 (GRCm39) |
D173G |
probably benign |
Het |
Card11 |
T |
G |
5: 140,881,781 (GRCm39) |
N461T |
probably benign |
Het |
Ccdc9 |
T |
C |
7: 16,018,287 (GRCm39) |
D7G |
probably damaging |
Het |
Ces2a |
T |
C |
8: 105,463,744 (GRCm39) |
V152A |
probably benign |
Het |
Chl1 |
G |
A |
6: 103,668,613 (GRCm39) |
A449T |
possibly damaging |
Het |
Col11a1 |
G |
T |
3: 113,907,385 (GRCm39) |
G638W |
unknown |
Het |
Cse1l |
A |
T |
2: 166,764,708 (GRCm39) |
T171S |
probably benign |
Het |
D2hgdh |
T |
A |
1: 93,766,687 (GRCm39) |
|
probably null |
Het |
Dlg4 |
T |
C |
11: 69,930,680 (GRCm39) |
Y432H |
possibly damaging |
Het |
Dmwd |
C |
T |
7: 18,814,660 (GRCm39) |
L437F |
probably damaging |
Het |
F11 |
T |
A |
8: 45,702,545 (GRCm39) |
Q251L |
probably damaging |
Het |
Gtf2f1 |
T |
A |
17: 57,312,458 (GRCm39) |
E195V |
possibly damaging |
Het |
Hap1 |
A |
T |
11: 100,242,374 (GRCm39) |
L376Q |
probably damaging |
Het |
Hars2 |
T |
A |
18: 36,921,289 (GRCm39) |
I234N |
probably damaging |
Het |
Hcfc2 |
T |
C |
10: 82,535,063 (GRCm39) |
V29A |
probably benign |
Het |
Hp |
C |
T |
8: 110,305,731 (GRCm39) |
|
probably benign |
Het |
Hrh1 |
T |
C |
6: 114,456,748 (GRCm39) |
S10P |
probably benign |
Het |
Kcnmb2 |
A |
G |
3: 32,252,465 (GRCm39) |
Y222C |
probably damaging |
Het |
Kif13b |
G |
A |
14: 64,994,956 (GRCm39) |
V903I |
probably benign |
Het |
Lars2 |
G |
T |
9: 123,206,895 (GRCm39) |
|
probably null |
Het |
Med7 |
A |
G |
11: 46,331,687 (GRCm39) |
D94G |
possibly damaging |
Het |
Mier3 |
A |
G |
13: 111,841,846 (GRCm39) |
T136A |
probably benign |
Het |
Nin |
T |
C |
12: 70,124,956 (GRCm39) |
E122G |
|
Het |
Or5h18 |
G |
T |
16: 58,847,469 (GRCm39) |
T267K |
probably benign |
Het |
Or6k14 |
A |
G |
1: 173,927,042 (GRCm39) |
Q6R |
probably benign |
Het |
Oxsr1 |
T |
C |
9: 119,070,821 (GRCm39) |
I489V |
probably benign |
Het |
Pdcd6ip |
A |
T |
9: 113,516,763 (GRCm39) |
L216Q |
probably damaging |
Het |
Ppp4r4 |
T |
A |
12: 103,553,364 (GRCm39) |
C379* |
probably null |
Het |
Pramel24 |
A |
T |
4: 143,453,284 (GRCm39) |
K131* |
probably null |
Het |
Ptpn13 |
T |
A |
5: 103,713,018 (GRCm39) |
C1714S |
probably benign |
Het |
Pum2 |
G |
A |
12: 8,778,922 (GRCm39) |
R498Q |
possibly damaging |
Het |
Sema3d |
T |
A |
5: 12,623,823 (GRCm39) |
Y577* |
probably null |
Het |
Slc29a3 |
G |
A |
10: 60,552,145 (GRCm39) |
P300S |
not run |
Het |
Slc5a4b |
A |
G |
10: 75,899,906 (GRCm39) |
V444A |
probably damaging |
Het |
Smad9 |
A |
G |
3: 54,696,685 (GRCm39) |
E250G |
probably damaging |
Het |
Srsf7 |
A |
G |
17: 80,514,703 (GRCm39) |
|
probably benign |
Het |
Thsd7b |
A |
G |
1: 129,523,683 (GRCm39) |
Y239C |
probably damaging |
Het |
Triml2 |
C |
A |
8: 43,638,325 (GRCm39) |
Q98K |
probably damaging |
Het |
Txndc11 |
A |
T |
16: 10,902,099 (GRCm39) |
L705Q |
probably damaging |
Het |
Vmn1r22 |
A |
G |
6: 57,877,404 (GRCm39) |
M191T |
probably damaging |
Het |
Vmn2r89 |
A |
T |
14: 51,692,651 (GRCm39) |
K151N |
probably benign |
Het |
Vwa5a |
A |
G |
9: 38,646,125 (GRCm39) |
I498V |
probably damaging |
Het |
Zfp459 |
T |
C |
13: 67,556,615 (GRCm39) |
H156R |
probably damaging |
Het |
Zscan18 |
T |
A |
7: 12,503,532 (GRCm39) |
K676* |
probably null |
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 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- TTCCTGTGTCACAGCAAGCTC -3'
(R):5'- TATCCTTGTTCTGTGTTACACCAGAG -3'
Sequencing Primer
(F):5'- ACAGTGAATGTGCTCCAGTC -3'
(R):5'- TCTGTGTTACACCAGAGGTTAC -3'
|
Posted On |
2019-11-12 |