Incidental Mutation 'IGL01340:Kmt5c'
| ID |
74812 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Kmt5c
|
| Ensembl Gene |
ENSMUSG00000059851 |
| Gene Name |
lysine methyltransferase 5C |
| Synonyms |
Suv420h2, Suv4-20h2 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01340
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
4743114-4750513 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 4745140 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 44
(R44*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119323
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098853]
[ENSMUST00000108582]
[ENSMUST00000108583]
[ENSMUST00000128018]
[ENSMUST00000130215]
[ENSMUST00000160480]
|
| AlphaFold |
Q6Q783 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000098853
AA Change: R44*
|
| SMART Domains |
Protein: ENSMUSP00000096452
Gene: ENSMUSG00000059851
AA Change: R44*
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:SET
|
6 |
50 |
1e-10 |
BLAST |
|
SET
|
110 |
224 |
1.17e-14 |
SMART |
|
low complexity region
|
268 |
281 |
N/A |
INTRINSIC |
|
low complexity region
|
327 |
343 |
N/A |
INTRINSIC |
|
low complexity region
|
411 |
427 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000108582
AA Change: R44*
|
| SMART Domains |
Protein: ENSMUSP00000104223
Gene: ENSMUSG00000059851
AA Change: R44*
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:SET
|
6 |
50 |
1e-10 |
BLAST |
|
SET
|
110 |
224 |
1.17e-14 |
SMART |
|
low complexity region
|
268 |
281 |
N/A |
INTRINSIC |
|
low complexity region
|
327 |
343 |
N/A |
INTRINSIC |
|
low complexity region
|
411 |
427 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000108583
AA Change: R44*
|
| SMART Domains |
Protein: ENSMUSP00000104224
Gene: ENSMUSG00000059851
AA Change: R44*
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:SET
|
6 |
50 |
1e-10 |
BLAST |
|
SET
|
110 |
224 |
1.17e-14 |
SMART |
|
low complexity region
|
268 |
281 |
N/A |
INTRINSIC |
|
low complexity region
|
327 |
343 |
N/A |
INTRINSIC |
|
low complexity region
|
411 |
427 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128018
|
| SMART Domains |
Protein: ENSMUSP00000114445
Gene: ENSMUSG00000059851
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:SET
|
1 |
32 |
4e-15 |
BLAST |
|
PDB:4AU7|B
|
1 |
54 |
5e-33 |
PDB |
|
low complexity region
|
76 |
89 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129927
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130200
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000130215
AA Change: R44*
|
| SMART Domains |
Protein: ENSMUSP00000119323
Gene: ENSMUSG00000059851
AA Change: R44*
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4AU7|B
|
1 |
164 |
1e-110 |
PDB |
|
Blast:SET
|
32 |
133 |
5e-35 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152500
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136177
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135541
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157950
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152431
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160480
|
| SMART Domains |
Protein: ENSMUSP00000124663
Gene: ENSMUSG00000059851
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4AU7|B
|
1 |
36 |
2e-18 |
PDB |
|
Blast:SET
|
6 |
36 |
3e-10 |
BLAST |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SUV420H2 and the related enzyme SUV420H1 (MIM 610881) function as histone methyltransferases that specifically trimethylate nucleosomal histone H4 (see MIM 602822) on lysine-20 (K20) (Schotta et al., 2004 [PubMed 15145825]).[supplied by OMIM, Dec 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit no apparent defects and develop normally. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
T |
A |
11: 110,021,453 (GRCm39) |
I1086L |
probably benign |
Het |
| Adam17 |
A |
T |
12: 21,380,058 (GRCm39) |
C630* |
probably null |
Het |
| Adgrg5 |
T |
C |
8: 95,664,257 (GRCm39) |
L289P |
probably damaging |
Het |
| Aplp1 |
G |
A |
7: 30,143,843 (GRCm39) |
T64I |
probably damaging |
Het |
| Bdh1 |
T |
A |
16: 31,275,661 (GRCm39) |
W261R |
probably damaging |
Het |
| Cadm2 |
A |
T |
16: 66,581,672 (GRCm39) |
I202N |
possibly damaging |
Het |
| Cd209c |
C |
T |
8: 3,995,892 (GRCm39) |
R6H |
probably benign |
Het |
| Cfap221 |
T |
A |
1: 119,881,350 (GRCm39) |
I371F |
possibly damaging |
Het |
| Cfap44 |
A |
G |
16: 44,224,493 (GRCm39) |
Y67C |
probably damaging |
Het |
| Cilp |
T |
C |
9: 65,183,256 (GRCm39) |
S387P |
probably damaging |
Het |
| Cnot1 |
T |
C |
8: 96,487,165 (GRCm39) |
D598G |
probably damaging |
Het |
| Col5a1 |
T |
C |
2: 27,850,463 (GRCm39) |
L520P |
unknown |
Het |
| Cpvl |
A |
T |
6: 53,873,436 (GRCm39) |
Y433* |
probably null |
Het |
| Cxcl1 |
G |
T |
5: 91,039,434 (GRCm39) |
C59F |
probably damaging |
Het |
| Cyth3 |
T |
A |
5: 143,670,190 (GRCm39) |
L33* |
probably null |
Het |
| Dnah2 |
T |
C |
11: 69,384,010 (GRCm39) |
K1069E |
probably damaging |
Het |
| Drosha |
T |
A |
15: 12,834,109 (GRCm39) |
|
probably benign |
Het |
| Fam83h |
T |
A |
15: 75,875,885 (GRCm39) |
D484V |
probably damaging |
Het |
| Igsf3 |
C |
A |
3: 101,346,995 (GRCm39) |
Y663* |
probably null |
Het |
| Kxd1 |
T |
C |
8: 70,968,093 (GRCm39) |
|
probably null |
Het |
| Lars1 |
A |
G |
18: 42,335,642 (GRCm39) |
V1158A |
probably benign |
Het |
| Lmf2 |
A |
G |
15: 89,237,075 (GRCm39) |
F413S |
probably damaging |
Het |
| Mc4r |
C |
T |
18: 66,992,229 (GRCm39) |
A295T |
probably benign |
Het |
| Mrc1 |
T |
C |
2: 14,314,895 (GRCm39) |
|
probably null |
Het |
| Mtmr7 |
T |
C |
8: 41,050,465 (GRCm39) |
Y110C |
probably damaging |
Het |
| Myd88 |
A |
C |
9: 119,166,418 (GRCm39) |
|
probably benign |
Het |
| Ndc1 |
T |
C |
4: 107,231,344 (GRCm39) |
V95A |
probably damaging |
Het |
| Ntrk1 |
T |
A |
3: 87,696,021 (GRCm39) |
E163V |
possibly damaging |
Het |
| Or4p8 |
T |
C |
2: 88,727,321 (GRCm39) |
T207A |
probably damaging |
Het |
| Pappa |
A |
T |
4: 65,242,109 (GRCm39) |
D1491V |
possibly damaging |
Het |
| Phc3 |
T |
A |
3: 30,984,033 (GRCm39) |
I673F |
possibly damaging |
Het |
| Pkhd1 |
A |
T |
1: 20,593,201 (GRCm39) |
N1637K |
probably benign |
Het |
| Relb |
T |
C |
7: 19,350,298 (GRCm39) |
I218V |
probably benign |
Het |
| Rgma |
T |
C |
7: 73,067,078 (GRCm39) |
F111S |
probably damaging |
Het |
| Slco1a6 |
A |
T |
6: 142,055,109 (GRCm39) |
N278K |
possibly damaging |
Het |
| Slfn9 |
A |
T |
11: 82,872,577 (GRCm39) |
F720I |
probably benign |
Het |
| Snd1 |
T |
A |
6: 28,883,368 (GRCm39) |
V741E |
probably benign |
Het |
| Snx6 |
C |
T |
12: 54,801,094 (GRCm39) |
R185Q |
probably damaging |
Het |
| Spata31g1 |
A |
C |
4: 42,971,984 (GRCm39) |
E439A |
possibly damaging |
Het |
| Telo2 |
G |
A |
17: 25,319,103 (GRCm39) |
|
probably benign |
Het |
| Wdr91 |
A |
G |
6: 34,881,514 (GRCm39) |
S278P |
probably benign |
Het |
| Xab2 |
A |
T |
8: 3,664,381 (GRCm39) |
D277E |
probably damaging |
Het |
| Zbbx |
T |
C |
3: 75,012,957 (GRCm39) |
E158G |
possibly damaging |
Het |
|
| Other mutations in Kmt5c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0010:Kmt5c
|
UTSW |
7 |
4,749,207 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0349:Kmt5c
|
UTSW |
7 |
4,749,594 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0400:Kmt5c
|
UTSW |
7 |
4,749,243 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1402:Kmt5c
|
UTSW |
7 |
4,745,252 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R1402:Kmt5c
|
UTSW |
7 |
4,745,252 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R1599:Kmt5c
|
UTSW |
7 |
4,744,899 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1657:Kmt5c
|
UTSW |
7 |
4,749,453 (GRCm39) |
nonsense |
probably null |
|
|
R1799:Kmt5c
|
UTSW |
7 |
4,745,729 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1892:Kmt5c
|
UTSW |
7 |
4,745,714 (GRCm39) |
nonsense |
probably null |
|
|
R3855:Kmt5c
|
UTSW |
7 |
4,749,255 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5982:Kmt5c
|
UTSW |
7 |
4,749,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6306:Kmt5c
|
UTSW |
7 |
4,749,480 (GRCm39) |
missense |
probably benign |
0.35 |
|
R6357:Kmt5c
|
UTSW |
7 |
4,745,204 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6563:Kmt5c
|
UTSW |
7 |
4,745,628 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7106:Kmt5c
|
UTSW |
7 |
4,745,705 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7904:Kmt5c
|
UTSW |
7 |
4,749,158 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8706:Kmt5c
|
UTSW |
7 |
4,749,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8777:Kmt5c
|
UTSW |
7 |
4,745,712 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8777-TAIL:Kmt5c
|
UTSW |
7 |
4,745,712 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9050:Kmt5c
|
UTSW |
7 |
4,745,281 (GRCm39) |
missense |
probably benign |
0.09 |
|
Z1177:Kmt5c
|
UTSW |
7 |
4,749,699 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-10-07 |
Incidental Mutation