Incidental Mutation 'R6357:Kmt5c'
| ID |
512376 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R6357 (G1)
|
| Quality Score |
177.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
4743114-4750513 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 4745204 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 65
(F65S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119323
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098853]
[ENSMUST00000108582]
[ENSMUST00000108583]
[ENSMUST00000128018]
[ENSMUST00000130215]
[ENSMUST00000160480]
|
| AlphaFold |
Q6Q783 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000098853
AA Change: F65S
PolyPhen 2
Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000096452
Gene: ENSMUSG00000059851
AA Change: F65S
| 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 |
possibly damaging
Transcript: ENSMUST00000108582
AA Change: F65S
PolyPhen 2
Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000104223
Gene: ENSMUSG00000059851
AA Change: F65S
| 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 |
possibly damaging
Transcript: ENSMUST00000108583
AA Change: F65S
PolyPhen 2
Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000104224
Gene: ENSMUSG00000059851
AA Change: F65S
| 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 |
possibly damaging
Transcript: ENSMUST00000130215
AA Change: F65S
PolyPhen 2
Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000119323
Gene: ENSMUSG00000059851
AA Change: F65S
| 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: ENSMUST00000135541
|
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152431
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157950
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152500
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136177
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.7%
- 10x: 97.8%
- 20x: 92.8%
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsbg3 |
T |
C |
17: 57,184,591 (GRCm39) |
|
probably null |
Het |
| Aoc1l2 |
A |
G |
6: 48,907,908 (GRCm39) |
M303V |
probably benign |
Het |
| Armh4 |
A |
T |
14: 50,010,769 (GRCm39) |
S313T |
probably benign |
Het |
| Calcr |
T |
C |
6: 3,714,710 (GRCm39) |
D140G |
probably benign |
Het |
| Card10 |
T |
C |
15: 78,683,579 (GRCm39) |
E188G |
probably damaging |
Het |
| Cenpq |
T |
C |
17: 41,235,418 (GRCm39) |
E193G |
probably damaging |
Het |
| Cep164 |
G |
A |
9: 45,682,182 (GRCm39) |
L1874F |
probably damaging |
Het |
| Dennd3 |
T |
C |
15: 73,428,321 (GRCm39) |
M889T |
possibly damaging |
Het |
| Dnah9 |
T |
C |
11: 65,765,022 (GRCm39) |
K3841E |
probably damaging |
Het |
| Dynlt2b |
T |
G |
16: 32,247,873 (GRCm39) |
|
probably null |
Het |
| Eci2 |
A |
G |
13: 35,177,082 (GRCm39) |
V26A |
possibly damaging |
Het |
| Eftud2 |
A |
T |
11: 102,755,606 (GRCm39) |
N200K |
probably damaging |
Het |
| Eml5 |
T |
A |
12: 98,837,143 (GRCm39) |
H357L |
probably damaging |
Het |
| Esam |
T |
C |
9: 37,449,076 (GRCm39) |
*395R |
probably null |
Het |
| Galt |
C |
T |
4: 41,757,565 (GRCm39) |
P246S |
probably benign |
Het |
| Gjb3 |
A |
T |
4: 127,220,423 (GRCm39) |
Y36* |
probably null |
Het |
| Gli2 |
T |
C |
1: 118,769,689 (GRCm39) |
E621G |
probably damaging |
Het |
| Gls |
T |
C |
1: 52,258,665 (GRCm39) |
D201G |
probably damaging |
Het |
| Gm10801 |
C |
CGTCA |
2: 98,494,152 (GRCm39) |
|
probably null |
Het |
| Gm1110 |
T |
C |
9: 26,825,424 (GRCm39) |
|
probably null |
Het |
| Gm5565 |
T |
A |
5: 146,097,283 (GRCm39) |
H13L |
possibly damaging |
Het |
| Hydin |
A |
C |
8: 111,268,289 (GRCm39) |
T2923P |
possibly damaging |
Het |
| Kank1 |
A |
T |
19: 25,388,717 (GRCm39) |
I797L |
probably benign |
Het |
| Klhdc8a |
A |
T |
1: 132,230,891 (GRCm39) |
Q252L |
probably damaging |
Het |
| Lix1 |
C |
T |
17: 17,666,255 (GRCm39) |
P138L |
probably benign |
Het |
| Lnpep |
T |
C |
17: 17,773,176 (GRCm39) |
N664S |
probably benign |
Het |
| Msh6 |
T |
A |
17: 88,291,888 (GRCm39) |
Y214* |
probably null |
Het |
| Nefl |
A |
G |
14: 68,321,767 (GRCm39) |
E119G |
probably damaging |
Het |
| Nptxr |
C |
A |
15: 79,678,516 (GRCm39) |
R257L |
possibly damaging |
Het |
| Or4k15c |
C |
A |
14: 50,321,446 (GRCm39) |
A231S |
probably damaging |
Het |
| Or7e173 |
T |
A |
9: 19,938,925 (GRCm39) |
Q103L |
probably damaging |
Het |
| Oxct2b |
A |
G |
4: 123,010,709 (GRCm39) |
I210V |
probably benign |
Het |
| Plppr3 |
T |
A |
10: 79,701,240 (GRCm39) |
Q534L |
probably benign |
Het |
| Psma1 |
T |
C |
7: 113,873,602 (GRCm39) |
|
probably null |
Het |
| Rbp3 |
G |
A |
14: 33,678,991 (GRCm39) |
A980T |
probably damaging |
Het |
| Ripply2 |
T |
A |
9: 86,898,331 (GRCm39) |
S58R |
possibly damaging |
Het |
| Robo1 |
T |
C |
16: 72,767,190 (GRCm39) |
V454A |
probably benign |
Het |
| Sacs |
A |
G |
14: 61,446,273 (GRCm39) |
D2773G |
possibly damaging |
Het |
| Sirpb1b |
A |
T |
3: 15,568,243 (GRCm39) |
V366E |
possibly damaging |
Het |
| Slc5a7 |
T |
C |
17: 54,594,389 (GRCm39) |
I197M |
probably benign |
Het |
| Spata31f1a |
T |
A |
4: 42,850,393 (GRCm39) |
I588F |
probably damaging |
Het |
| Spmap2 |
T |
C |
10: 79,422,789 (GRCm39) |
S38G |
probably benign |
Het |
| Srgap2 |
T |
C |
1: 131,283,280 (GRCm39) |
Y267C |
probably damaging |
Het |
| Ssc4d |
T |
C |
5: 135,994,950 (GRCm39) |
T189A |
probably benign |
Het |
| Tas2r106 |
A |
G |
6: 131,654,925 (GRCm39) |
*309Q |
probably null |
Het |
| Vmn2r44 |
T |
C |
7: 8,373,657 (GRCm39) |
M511V |
probably benign |
Het |
| Wdfy4 |
G |
T |
14: 32,823,006 (GRCm39) |
Y1364* |
probably null |
Het |
| Zbtb8a |
T |
C |
4: 129,248,092 (GRCm39) |
H393R |
probably benign |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACAATTCTCAGCCTGGTCTC -3'
(R):5'- ACAGGGGCCTCTTTCTCTTG -3'
Sequencing Primer
(F):5'- TCAGCCTGGTCTCCCTGAAG -3'
(R):5'- GTGTCCTCATCTGTCAAAGGAAG -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation