Incidental Mutation 'R8447:Kdm3a'
| ID |
654541 |
| 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 |
067902-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.962)
|
| Stock # |
R8447 (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 71588881 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 376
(V376A)
|
| 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: V376A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000065716
Gene: ENSMUSG00000053470
AA Change: V376A
| 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: V376A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000128789
Gene: ENSMUSG00000053470
AA Change: V376A
| 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: V376A
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: V376A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| 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 |
|---|
| Abcb4 |
A |
C |
5: 8,957,278 (GRCm39) |
T136P |
probably damaging |
Het |
| Abcc3 |
A |
T |
11: 94,254,886 (GRCm39) |
L639Q |
possibly damaging |
Het |
| Adam10 |
T |
A |
9: 70,655,400 (GRCm39) |
N289K |
probably damaging |
Het |
| Akap12 |
A |
G |
10: 4,306,289 (GRCm39) |
E1138G |
probably benign |
Het |
| Akr1e1 |
C |
A |
13: 4,648,793 (GRCm39) |
L167F |
probably damaging |
Het |
| Cars1 |
T |
C |
7: 143,123,766 (GRCm39) |
K506E |
possibly damaging |
Het |
| Castor1 |
T |
C |
11: 4,170,165 (GRCm39) |
V81A |
probably damaging |
Het |
| Cfap46 |
C |
A |
7: 139,260,902 (GRCm39) |
R65S |
possibly damaging |
Het |
| Cfap57 |
C |
T |
4: 118,472,128 (GRCm39) |
V84I |
probably benign |
Het |
| Clec16a |
C |
A |
16: 10,559,487 (GRCm39) |
T920K |
probably benign |
Het |
| Coro2b |
C |
T |
9: 62,333,842 (GRCm39) |
E351K |
probably damaging |
Het |
| Diablo |
T |
C |
5: 123,655,829 (GRCm39) |
E163G |
probably damaging |
Het |
| Dnah6 |
A |
G |
6: 73,115,757 (GRCm39) |
L1547P |
probably damaging |
Het |
| Dynll2 |
G |
T |
11: 87,874,719 (GRCm39) |
D37E |
probably benign |
Het |
| Eml4 |
A |
T |
17: 83,755,656 (GRCm39) |
Q408L |
probably damaging |
Het |
| F2rl3 |
T |
C |
8: 73,489,963 (GRCm39) |
*397R |
probably null |
Het |
| Fance |
T |
A |
17: 28,545,155 (GRCm39) |
L127Q |
unknown |
Het |
| Fat4 |
T |
C |
3: 39,033,824 (GRCm39) |
V2492A |
possibly damaging |
Het |
| Ggta1 |
C |
T |
2: 35,292,573 (GRCm39) |
D245N |
probably damaging |
Het |
| Gli1 |
T |
C |
10: 127,166,106 (GRCm39) |
N1049S |
probably benign |
Het |
| Grin2c |
A |
G |
11: 115,148,215 (GRCm39) |
V354A |
probably benign |
Het |
| Kank4 |
T |
A |
4: 98,666,729 (GRCm39) |
I573F |
probably damaging |
Het |
| Kndc1 |
T |
C |
7: 139,481,121 (GRCm39) |
V69A |
probably damaging |
Het |
| Lcmt1 |
T |
A |
7: 123,020,825 (GRCm39) |
L250Q |
probably damaging |
Het |
| Ldhb |
A |
T |
6: 142,444,356 (GRCm39) |
V99D |
probably damaging |
Het |
| Lepr |
T |
C |
4: 101,671,688 (GRCm39) |
V904A |
probably benign |
Het |
| Lipe |
G |
T |
7: 25,080,017 (GRCm39) |
N710K |
probably damaging |
Het |
| Med1 |
C |
A |
11: 98,060,240 (GRCm39) |
D230Y |
probably damaging |
Het |
| Mpv17l |
T |
A |
16: 13,758,864 (GRCm39) |
I96K |
probably benign |
Het |
| Obox1 |
A |
T |
7: 15,289,541 (GRCm39) |
Q110L |
probably damaging |
Het |
| Or11h6 |
T |
C |
14: 50,880,008 (GRCm39) |
V84A |
probably benign |
Het |
| Or4f4b |
T |
A |
2: 111,314,101 (GRCm39) |
Y137N |
probably damaging |
Het |
| Or4k37 |
T |
A |
2: 111,159,307 (GRCm39) |
I181N |
possibly damaging |
Het |
| Or5t16 |
T |
A |
2: 86,818,885 (GRCm39) |
I212F |
probably benign |
Het |
| Or6c76 |
T |
G |
10: 129,612,371 (GRCm39) |
M211R |
possibly damaging |
Het |
| Or9s14 |
C |
A |
1: 92,535,494 (GRCm39) |
|
probably benign |
Het |
| Pah |
T |
C |
10: 87,417,827 (GRCm39) |
|
probably null |
Het |
| Pate1 |
A |
T |
9: 35,597,631 (GRCm39) |
N40K |
probably benign |
Het |
| Pclo |
C |
A |
5: 14,731,423 (GRCm39) |
D182E |
|
Het |
| Prl7a2 |
A |
T |
13: 27,849,941 (GRCm39) |
S44T |
possibly damaging |
Het |
| Pwp2 |
T |
A |
10: 78,007,873 (GRCm39) |
D894V |
probably benign |
Het |
| Ripor2 |
T |
A |
13: 24,907,771 (GRCm39) |
L1014Q |
probably damaging |
Het |
| Rpe |
G |
A |
1: 66,740,188 (GRCm39) |
|
probably null |
Het |
| Sh2d3c |
A |
G |
2: 32,642,671 (GRCm39) |
T706A |
probably damaging |
Het |
| Slc34a1 |
T |
C |
13: 24,006,309 (GRCm39) |
F445S |
possibly damaging |
Het |
| Spata20 |
C |
A |
11: 94,373,080 (GRCm39) |
L515F |
probably damaging |
Het |
| Tcf20 |
G |
A |
15: 82,737,437 (GRCm39) |
S1338F |
possibly damaging |
Het |
| Tm9sf2 |
C |
A |
14: 122,377,180 (GRCm39) |
P236Q |
probably damaging |
Het |
| Tmem135 |
T |
C |
7: 88,803,240 (GRCm39) |
Y311C |
probably damaging |
Het |
| Tmem245 |
T |
C |
4: 56,906,261 (GRCm39) |
Q548R |
probably benign |
Het |
| Tmem94 |
G |
T |
11: 115,688,023 (GRCm39) |
C1190F |
possibly damaging |
Het |
| Tmem94 |
G |
A |
11: 115,688,696 (GRCm39) |
R1301H |
probably benign |
Het |
| Zp3 |
G |
A |
5: 136,013,244 (GRCm39) |
G192E |
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 |
|
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 |
|
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'- GATGTGGAAGCTGCATGTTC -3'
(R):5'- TGATTGCCATACCAACAACCTG -3'
Sequencing Primer
(F):5'- AAGCTGCATGTTCTAGATGCTTC -3'
(R):5'- CAACAACCTGTACCGTTTTTAGGGTG -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation