Incidental Mutation 'R3855:Kmt5c'
| ID |
276108 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kmt5c
|
| Ensembl Gene |
ENSMUSG00000059851 |
| Gene Name |
lysine methyltransferase 5C |
| Synonyms |
Suv420h2, Suv4-20h2 |
| MMRRC Submission |
040901-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3855 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
4743114-4750513 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 4749255 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 104
(F104S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114445
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098853]
[ENSMUST00000108582]
[ENSMUST00000108583]
[ENSMUST00000128018]
[ENSMUST00000130215]
[ENSMUST00000160480]
|
| AlphaFold |
Q6Q783 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000098853
AA Change: F296S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000096452
Gene: ENSMUSG00000059851
AA Change: F296S
| 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: F296S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000104223
Gene: ENSMUSG00000059851
AA Change: F296S
| 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: F296S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000104224
Gene: ENSMUSG00000059851
AA Change: F296S
| 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: F104S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000114445
Gene: ENSMUSG00000059851
AA Change: F104S
| 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 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 |
noncoding transcript
Transcript: ENSMUST00000135541
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152431
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136177
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152500
|
| 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 |
|
| Meta Mutation Damage Score |
0.0954 |
| Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.7%
- 10x: 96.9%
- 20x: 93.3%
|
| Validation Efficiency |
98% (45/46) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akna |
A |
T |
4: 63,291,705 (GRCm39) |
S1144R |
probably damaging |
Het |
| Apbb1ip |
T |
C |
2: 22,765,187 (GRCm39) |
S623P |
unknown |
Het |
| Apex1 |
A |
G |
14: 51,163,714 (GRCm39) |
T109A |
probably benign |
Het |
| Arhgef1 |
G |
A |
7: 24,618,697 (GRCm39) |
G107S |
probably damaging |
Het |
| Ccnq |
T |
C |
11: 78,642,013 (GRCm39) |
N159S |
probably benign |
Het |
| Cdc42bpa |
A |
G |
1: 179,983,543 (GRCm39) |
|
probably benign |
Het |
| Cog2 |
T |
C |
8: 125,256,742 (GRCm39) |
|
probably null |
Het |
| Dennd4c |
G |
A |
4: 86,698,084 (GRCm39) |
V191M |
probably damaging |
Het |
| Dthd1 |
T |
A |
5: 62,984,472 (GRCm39) |
H392Q |
probably benign |
Het |
| Dthd1 |
T |
C |
5: 63,045,366 (GRCm39) |
V710A |
probably benign |
Het |
| Galnt7 |
T |
C |
8: 57,985,658 (GRCm39) |
|
probably benign |
Het |
| Gm4868 |
A |
G |
5: 125,925,609 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr179 |
T |
C |
11: 97,232,260 (GRCm39) |
E648G |
probably damaging |
Het |
| Hk2 |
T |
C |
6: 82,713,657 (GRCm39) |
E447G |
possibly damaging |
Het |
| Idi1 |
G |
T |
13: 8,935,968 (GRCm39) |
A25S |
probably benign |
Het |
| Itgb3bp |
T |
C |
4: 99,686,957 (GRCm39) |
E76G |
possibly damaging |
Het |
| Khk |
A |
G |
5: 31,084,401 (GRCm39) |
D82G |
probably benign |
Het |
| Kif17 |
A |
G |
4: 138,018,821 (GRCm39) |
S533G |
probably benign |
Het |
| Kmt2a |
A |
G |
9: 44,741,796 (GRCm39) |
|
probably benign |
Het |
| Lmf1 |
G |
A |
17: 25,873,445 (GRCm39) |
V317M |
probably damaging |
Het |
| Mdh1 |
C |
T |
11: 21,509,281 (GRCm39) |
V234I |
probably benign |
Het |
| Nbas |
T |
A |
12: 13,329,415 (GRCm39) |
I120N |
possibly damaging |
Het |
| Nfia |
A |
G |
4: 97,951,259 (GRCm39) |
H362R |
probably damaging |
Het |
| Nhlrc2 |
T |
C |
19: 56,576,703 (GRCm39) |
|
probably null |
Het |
| Nme5 |
A |
G |
18: 34,702,884 (GRCm39) |
S135P |
possibly damaging |
Het |
| Nt5c2 |
A |
G |
19: 46,884,957 (GRCm39) |
V252A |
probably damaging |
Het |
| Nufip2 |
T |
C |
11: 77,583,715 (GRCm39) |
V543A |
probably damaging |
Het |
| Or1l4b |
A |
T |
2: 37,036,835 (GRCm39) |
I204F |
possibly damaging |
Het |
| Or2y10 |
A |
G |
11: 49,454,918 (GRCm39) |
T57A |
probably damaging |
Het |
| Otog |
T |
C |
7: 45,923,184 (GRCm39) |
S1020P |
possibly damaging |
Het |
| Pear1 |
T |
C |
3: 87,659,228 (GRCm39) |
H814R |
possibly damaging |
Het |
| Pkd1l1 |
A |
G |
11: 8,915,047 (GRCm39) |
|
probably null |
Het |
| Pla2g4a |
T |
A |
1: 149,705,928 (GRCm39) |
I711F |
possibly damaging |
Het |
| Ppig |
G |
A |
2: 69,579,719 (GRCm39) |
V418I |
unknown |
Het |
| Prg4 |
T |
C |
1: 150,327,751 (GRCm39) |
Y234C |
probably damaging |
Het |
| Prmt9 |
G |
A |
8: 78,294,894 (GRCm39) |
V413I |
probably benign |
Het |
| Rnf145 |
G |
A |
11: 44,422,120 (GRCm39) |
V68M |
possibly damaging |
Het |
| Sepsecs |
G |
A |
5: 52,821,616 (GRCm39) |
R74C |
probably damaging |
Het |
| Sgsm1 |
A |
G |
5: 113,411,125 (GRCm39) |
V580A |
probably benign |
Het |
| Sh3bp1 |
C |
T |
15: 78,785,361 (GRCm39) |
|
probably benign |
Het |
| Sox11 |
C |
A |
12: 27,391,501 (GRCm39) |
G303C |
probably damaging |
Het |
| Usp54 |
C |
A |
14: 20,638,488 (GRCm39) |
M197I |
probably damaging |
Het |
| Vps26c |
A |
G |
16: 94,311,665 (GRCm39) |
F95L |
probably benign |
Het |
| Xylt1 |
T |
G |
7: 117,192,777 (GRCm39) |
L361R |
probably damaging |
Het |
| Zfp512 |
A |
G |
5: 31,637,593 (GRCm39) |
R505G |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTCTAAAGTGTGTCTGGCCCAG -3'
(R):5'- GGGGCAAGTAATCCATGTGG -3'
Sequencing Primer
(F):5'- TGTCTGGCCCAGCACATG -3'
(R):5'- CAAGTAATCCATGTGGGGGCTG -3'
|
| Posted On |
2015-04-06 |
Incidental Mutation