Incidental Mutation 'R8706:Kmt5c'
| ID |
669274 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kmt5c
|
| Ensembl Gene |
ENSMUSG00000059851 |
| Gene Name |
lysine methyltransferase 5C |
| Synonyms |
Suv420h2, Suv4-20h2 |
| MMRRC Submission |
068560-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8706 (G1)
|
| Quality Score |
111.008 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
4743114-4750513 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 4749153 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 262
(R262L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096452
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098853]
[ENSMUST00000108582]
[ENSMUST00000108583]
[ENSMUST00000128018]
[ENSMUST00000130215]
[ENSMUST00000160480]
|
| AlphaFold |
Q6Q783 |
| PDB Structure |
The structure of the Suv4-20h2 ternary complex with histone H4 [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000098853
AA Change: R262L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000096452
Gene: ENSMUSG00000059851
AA Change: R262L
| 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 damaging
Transcript: ENSMUST00000108582
AA Change: R262L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000104223
Gene: ENSMUSG00000059851
AA Change: R262L
| 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 damaging
Transcript: ENSMUST00000108583
AA Change: R262L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000104224
Gene: ENSMUSG00000059851
AA Change: R262L
| 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 damaging
Transcript: ENSMUST00000128018
AA Change: R70L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000114445
Gene: ENSMUSG00000059851
AA Change: R70L
| 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 |
probably benign
Transcript: ENSMUST00000130215
|
| SMART Domains |
Protein: ENSMUSP00000119323
Gene: ENSMUSG00000059851
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4AU7|B
|
1 |
164 |
1e-110 |
PDB |
|
Blast:SET
|
32 |
133 |
5e-35 |
BLAST |
|
| 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 |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| Validation Efficiency |
100% (32/32) |
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adpgk |
C |
T |
9: 59,222,456 (GRCm39) |
T461I |
probably benign |
Het |
| Adra2b |
A |
G |
2: 127,206,487 (GRCm39) |
T335A |
probably benign |
Het |
| Ap3b1 |
T |
C |
13: 94,545,353 (GRCm39) |
|
probably null |
Het |
| C1rl |
T |
C |
6: 124,470,191 (GRCm39) |
|
probably null |
Het |
| Ccdc142 |
A |
G |
6: 83,080,678 (GRCm39) |
E470G |
probably damaging |
Het |
| Ccm2 |
T |
A |
11: 6,539,447 (GRCm39) |
I163N |
possibly damaging |
Het |
| Cdk5rap2 |
A |
T |
4: 70,157,562 (GRCm39) |
F1596L |
probably benign |
Het |
| Chrna4 |
A |
T |
2: 180,679,307 (GRCm39) |
F47I |
probably damaging |
Het |
| Cx3cl1 |
A |
G |
8: 95,506,876 (GRCm39) |
T294A |
probably benign |
Het |
| Dcun1d4 |
C |
T |
5: 73,714,658 (GRCm39) |
T275M |
probably damaging |
Het |
| Dpp4 |
T |
C |
2: 62,208,647 (GRCm39) |
I166V |
probably benign |
Het |
| Dynap |
C |
T |
18: 70,374,062 (GRCm39) |
E155K |
unknown |
Het |
| Fam171b |
A |
G |
2: 83,690,864 (GRCm39) |
T276A |
probably benign |
Het |
| Fmo4 |
G |
A |
1: 162,621,592 (GRCm39) |
Q540* |
probably null |
Het |
| Gtf2i |
C |
A |
5: 134,278,733 (GRCm39) |
V633F |
probably damaging |
Het |
| Lgr5 |
A |
G |
10: 115,288,610 (GRCm39) |
L678P |
probably benign |
Het |
| Mrps27 |
T |
C |
13: 99,541,508 (GRCm39) |
V163A |
probably damaging |
Het |
| Myh7b |
G |
A |
2: 155,453,669 (GRCm39) |
|
probably null |
Het |
| Myo15a |
A |
G |
11: 60,370,443 (GRCm39) |
T1068A |
probably benign |
Het |
| Ncor2 |
T |
C |
5: 125,145,010 (GRCm39) |
E369G |
unknown |
Het |
| Neb |
T |
A |
2: 52,181,326 (GRCm39) |
M1094L |
probably benign |
Het |
| Osbpl10 |
T |
C |
9: 115,036,688 (GRCm39) |
L228P |
probably damaging |
Het |
| Phip |
T |
A |
9: 82,787,765 (GRCm39) |
R799S |
possibly damaging |
Het |
| Prkn |
T |
C |
17: 11,456,472 (GRCm39) |
S99P |
probably benign |
Het |
| Rassf5 |
G |
T |
1: 131,172,782 (GRCm39) |
T29N |
probably benign |
Het |
| Spata31g1 |
A |
G |
4: 42,971,776 (GRCm39) |
K370E |
probably benign |
Het |
| Tmprss11g |
T |
A |
5: 86,644,404 (GRCm39) |
S147C |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,569,134 (GRCm39) |
T27253I |
probably damaging |
Het |
| Vmn1r59 |
A |
T |
7: 5,457,715 (GRCm39) |
V15E |
possibly damaging |
Het |
| Wnt6 |
A |
C |
1: 74,821,947 (GRCm39) |
D176A |
possibly damaging |
Het |
|
| Other mutations in Kmt5c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01340:Kmt5c
|
APN |
7 |
4,745,140 (GRCm39) |
nonsense |
probably null |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTGAATGCTATACCTGTGAGAG -3'
(R):5'- TGTCAACAGGACCTGTGCAG -3'
Sequencing Primer
(F):5'- AGGTAGGCACGGACCTTGTG -3'
(R):5'- AACAGGACCTGTGCAGCTCTTC -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation