Incidental Mutation 'R6563:Kmt5c'
| ID |
522535 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kmt5c
|
| Ensembl Gene |
ENSMUSG00000059851 |
| Gene Name |
lysine methyltransferase 5C |
| Synonyms |
Suv420h2, Suv4-20h2 |
| MMRRC Submission |
044687-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6563 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
4743114-4750513 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 4745628 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 96
(Y96C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119323
(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: Y96C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000096452
Gene: ENSMUSG00000059851
AA Change: Y96C
| 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: Y96C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000104223
Gene: ENSMUSG00000059851
AA Change: Y96C
| 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: Y96C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000104224
Gene: ENSMUSG00000059851
AA Change: Y96C
| 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 damaging
Transcript: ENSMUST00000130215
AA Change: Y96C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000119323
Gene: ENSMUSG00000059851
AA Change: Y96C
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4AU7|B
|
1 |
164 |
1e-110 |
PDB |
|
Blast:SET
|
32 |
133 |
5e-35 |
BLAST |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000160480
AA Change: T41A
PolyPhen 2
Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000124663
Gene: ENSMUSG00000059851
AA Change: T41A
| 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: ENSMUST00000157950
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152500
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135541
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152431
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136177
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
| Validation Efficiency |
100% (39/39) |
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap11a |
A |
T |
2: 113,664,247 (GRCm39) |
C679S |
probably benign |
Het |
| Atg4d |
C |
T |
9: 21,179,756 (GRCm39) |
L235F |
possibly damaging |
Het |
| Cyp2d22 |
A |
T |
15: 82,256,113 (GRCm39) |
W174R |
probably damaging |
Het |
| Cyp4a14 |
T |
A |
4: 115,349,283 (GRCm39) |
H259L |
probably benign |
Het |
| Dennd3 |
A |
T |
15: 73,416,229 (GRCm39) |
H493L |
probably damaging |
Het |
| Dnm1 |
T |
A |
2: 32,202,738 (GRCm39) |
D759V |
probably damaging |
Het |
| Dvl1 |
T |
A |
4: 155,940,710 (GRCm39) |
N443K |
probably damaging |
Het |
| Dync2h1 |
A |
G |
9: 7,120,819 (GRCm39) |
V2156A |
probably benign |
Het |
| Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
| Ermp1 |
T |
C |
19: 29,601,178 (GRCm39) |
D523G |
probably damaging |
Het |
| Fam83c |
A |
G |
2: 155,672,872 (GRCm39) |
V295A |
probably damaging |
Het |
| Gphn |
T |
C |
12: 78,727,170 (GRCm39) |
|
probably null |
Het |
| Irs1 |
T |
A |
1: 82,266,128 (GRCm39) |
N696I |
probably damaging |
Het |
| Krt77 |
G |
T |
15: 101,771,358 (GRCm39) |
T315N |
probably damaging |
Het |
| L3mbtl3 |
A |
C |
10: 26,178,761 (GRCm39) |
|
probably null |
Het |
| Lama3 |
A |
T |
18: 12,670,823 (GRCm39) |
Y2409F |
probably damaging |
Het |
| Lrrc9 |
A |
G |
12: 72,533,169 (GRCm39) |
|
probably null |
Het |
| Ltbp4 |
A |
T |
7: 27,008,488 (GRCm39) |
N1273K |
probably damaging |
Het |
| Mfsd13b |
G |
A |
7: 120,594,690 (GRCm39) |
A321T |
probably damaging |
Het |
| Mvb12b |
A |
T |
2: 33,715,128 (GRCm39) |
H167Q |
probably benign |
Het |
| Myo1g |
T |
A |
11: 6,467,146 (GRCm39) |
N230Y |
possibly damaging |
Het |
| Or7a41 |
A |
T |
10: 78,871,051 (GRCm39) |
R140S |
possibly damaging |
Het |
| Prkar2b |
G |
T |
12: 32,043,785 (GRCm39) |
|
probably null |
Het |
| Pwwp2a |
G |
T |
11: 43,596,592 (GRCm39) |
A586S |
possibly damaging |
Het |
| Ryr1 |
A |
G |
7: 28,794,917 (GRCm39) |
V1150A |
possibly damaging |
Het |
| Sh3bgr |
A |
G |
16: 96,007,143 (GRCm39) |
|
probably null |
Het |
| Slk |
T |
C |
19: 47,624,908 (GRCm39) |
|
probably null |
Het |
| Snx3 |
A |
G |
10: 42,402,032 (GRCm39) |
E82G |
possibly damaging |
Het |
| Spring1 |
T |
C |
5: 118,397,047 (GRCm39) |
V92A |
possibly damaging |
Het |
| Srcin1 |
A |
T |
11: 97,425,600 (GRCm39) |
Y486N |
possibly damaging |
Het |
| Tecpr2 |
A |
G |
12: 110,895,521 (GRCm39) |
E336G |
probably benign |
Het |
| Terf2ip |
G |
T |
8: 112,744,834 (GRCm39) |
V384F |
probably damaging |
Het |
| Tnn |
T |
A |
1: 159,915,968 (GRCm39) |
S1250C |
probably damaging |
Het |
| Tspoap1 |
A |
G |
11: 87,667,985 (GRCm39) |
E1263G |
possibly damaging |
Het |
| Tubgcp5 |
A |
G |
7: 55,475,409 (GRCm39) |
R932G |
possibly damaging |
Het |
| Utp25 |
C |
A |
1: 192,800,698 (GRCm39) |
R374L |
probably damaging |
Het |
| Vmn1r175 |
A |
G |
7: 23,508,030 (GRCm39) |
I199T |
possibly damaging |
Het |
| Vmn1r225 |
C |
T |
17: 20,722,763 (GRCm39) |
A68V |
probably benign |
Het |
| Vmn2r24 |
A |
T |
6: 123,781,137 (GRCm39) |
N448Y |
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 |
|
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'- TCTCTCCATCTAGCTGGCAG -3'
(R):5'- AGGTTGTCCTGTGTCACTAACC -3'
Sequencing Primer
(F):5'- AGCTGGCAGATTCTAGATCTCTCAG -3'
(R):5'- GTCACTAACCCCACTTTCCCTGG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation