Incidental Mutation 'IGL01087:Kmt5a'
| ID |
51075 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Kmt5a
|
| Ensembl Gene |
ENSMUSG00000049327 |
| Gene Name |
lysine methyltransferase 5A |
| Synonyms |
2410195B05Rik, PR-SET7, Setd8 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01087
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
124577993-124600371 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 124589443 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143765
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059580]
[ENSMUST00000100709]
[ENSMUST00000198451]
[ENSMUST00000199798]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000059580
|
| SMART Domains |
Protein: ENSMUSP00000052953
Gene: ENSMUSG00000049327
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
24 |
N/A |
INTRINSIC |
|
Blast:SET
|
87 |
197 |
2e-44 |
BLAST |
|
SET
|
214 |
341 |
1.4e-26 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000100709
|
| SMART Domains |
Protein: ENSMUSP00000098275
Gene: ENSMUSG00000049327
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
49 |
N/A |
INTRINSIC |
|
Blast:SET
|
101 |
211 |
1e-44 |
BLAST |
|
SET
|
228 |
355 |
1.4e-26 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125588
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134826
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135667
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138766
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143722
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198451
|
| SMART Domains |
Protein: ENSMUSP00000143207
Gene: ENSMUSG00000049327
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:SET
|
32 |
142 |
3e-45 |
BLAST |
|
SET
|
159 |
286 |
9e-29 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147969
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199798
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154031
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147692
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a protein-lysine N-methyltransferase that can monomethylate Lys-20 of histone H4 to effect transcriptional repression of some genes. The encoded protein is required for cell proliferation and plays a role in chromatin condensation. [provided by RefSeq, May 2016]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit embryonic lethality. Mice homozygous for an allele lacking exon 7 die prior to implantation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700003E16Rik |
A |
T |
6: 83,139,770 (GRCm39) |
|
probably null |
Het |
| Abca6 |
C |
A |
11: 110,082,476 (GRCm39) |
A1166S |
probably benign |
Het |
| Arhgdib |
C |
A |
6: 136,910,622 (GRCm39) |
K46N |
probably damaging |
Het |
| Ash1l |
T |
A |
3: 88,971,209 (GRCm39) |
V2507D |
probably damaging |
Het |
| B4galnt1 |
A |
T |
10: 127,002,060 (GRCm39) |
I63F |
probably damaging |
Het |
| Bclaf1 |
A |
G |
10: 20,201,056 (GRCm39) |
D394G |
probably damaging |
Het |
| Btbd10 |
T |
C |
7: 112,915,763 (GRCm39) |
D442G |
probably damaging |
Het |
| Cd44 |
A |
T |
2: 102,652,607 (GRCm39) |
L492H |
probably damaging |
Het |
| Cfap206 |
C |
T |
4: 34,721,562 (GRCm39) |
S162N |
probably damaging |
Het |
| Chsy1 |
T |
G |
7: 65,821,874 (GRCm39) |
V703G |
possibly damaging |
Het |
| Clrn2 |
T |
C |
5: 45,621,311 (GRCm39) |
|
probably benign |
Het |
| Crtc3 |
T |
C |
7: 80,248,487 (GRCm39) |
|
probably benign |
Het |
| Cul1 |
A |
G |
6: 47,485,978 (GRCm39) |
T342A |
probably benign |
Het |
| Dgki |
T |
C |
6: 36,989,846 (GRCm39) |
D631G |
probably damaging |
Het |
| Eif3b |
T |
C |
5: 140,426,862 (GRCm39) |
I706T |
probably damaging |
Het |
| Fam120a |
A |
G |
13: 49,055,549 (GRCm39) |
L713P |
probably damaging |
Het |
| I830077J02Rik |
C |
A |
3: 105,836,049 (GRCm39) |
|
probably null |
Het |
| Jmjd8 |
A |
C |
17: 26,048,145 (GRCm39) |
|
probably benign |
Het |
| Krt87 |
C |
A |
15: 101,329,706 (GRCm39) |
C486F |
probably benign |
Het |
| Lrp2 |
A |
T |
2: 69,354,417 (GRCm39) |
N470K |
probably damaging |
Het |
| Med1 |
C |
A |
11: 98,071,111 (GRCm39) |
D79Y |
probably damaging |
Het |
| Myo1d |
A |
G |
11: 80,573,261 (GRCm39) |
S189P |
probably damaging |
Het |
| Myo9a |
T |
A |
9: 59,697,361 (GRCm39) |
Y381N |
possibly damaging |
Het |
| Nipbl |
C |
A |
15: 8,379,981 (GRCm39) |
S937I |
possibly damaging |
Het |
| Nlrp4g |
A |
G |
9: 124,353,858 (GRCm38) |
|
noncoding transcript |
Het |
| Nutm2 |
A |
G |
13: 50,623,665 (GRCm39) |
T121A |
probably damaging |
Het |
| Opa1 |
C |
T |
16: 29,405,815 (GRCm39) |
P127S |
probably damaging |
Het |
| Or2h1b |
C |
T |
17: 37,462,332 (GRCm39) |
C177Y |
probably damaging |
Het |
| Pcdh15 |
A |
T |
10: 74,178,464 (GRCm39) |
I574F |
possibly damaging |
Het |
| Pcnx1 |
G |
A |
12: 82,042,113 (GRCm39) |
|
probably benign |
Het |
| Prex2 |
A |
G |
1: 11,138,328 (GRCm39) |
T136A |
probably benign |
Het |
| Prph2 |
A |
G |
17: 47,222,085 (GRCm39) |
T155A |
probably damaging |
Het |
| Rsl1d1 |
T |
C |
16: 11,012,539 (GRCm39) |
K296E |
possibly damaging |
Het |
| Syne1 |
A |
T |
10: 5,375,708 (GRCm39) |
I128N |
probably damaging |
Het |
| Tlk1 |
A |
T |
2: 70,582,660 (GRCm39) |
N156K |
possibly damaging |
Het |
| Trem2 |
C |
T |
17: 48,658,956 (GRCm39) |
T222I |
probably damaging |
Het |
| Trip12 |
A |
T |
1: 84,735,580 (GRCm39) |
F872L |
probably damaging |
Het |
| Trrap |
T |
A |
5: 144,783,349 (GRCm39) |
S3393T |
probably damaging |
Het |
| Vwa8 |
T |
A |
14: 79,172,669 (GRCm39) |
S304T |
probably benign |
Het |
| Zc3h7a |
T |
C |
16: 10,971,046 (GRCm39) |
T328A |
probably benign |
Het |
|
| Other mutations in Kmt5a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01839:Kmt5a
|
APN |
5 |
124,589,417 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0540:Kmt5a
|
UTSW |
5 |
124,589,373 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0743:Kmt5a
|
UTSW |
5 |
124,585,282 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1470:Kmt5a
|
UTSW |
5 |
124,585,334 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1470:Kmt5a
|
UTSW |
5 |
124,585,334 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1496:Kmt5a
|
UTSW |
5 |
124,597,948 (GRCm39) |
frame shift |
probably null |
|
|
R1676:Kmt5a
|
UTSW |
5 |
124,597,948 (GRCm39) |
frame shift |
probably null |
|
|
R6596:Kmt5a
|
UTSW |
5 |
124,588,759 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7582:Kmt5a
|
UTSW |
5 |
124,597,982 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8534:Kmt5a
|
UTSW |
5 |
124,598,635 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8786:Kmt5a
|
UTSW |
5 |
124,584,074 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9201:Kmt5a
|
UTSW |
5 |
124,597,912 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9377:Kmt5a
|
UTSW |
5 |
124,578,064 (GRCm39) |
start gained |
probably benign |
|
|
R9655:Kmt5a
|
UTSW |
5 |
124,589,393 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-06-21 |
Incidental Mutation