Incidental Mutation 'R1574:Kmt5b'
ID |
500355 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kmt5b
|
Ensembl Gene |
ENSMUSG00000045098 |
Gene Name |
lysine methyltransferase 5B |
Synonyms |
Suv420h1, C630029K18Rik, Suv4-20h1 |
MMRRC Submission |
045014-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1574 (G1)
|
Quality Score |
211 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
3817421-3868303 bp(+) (GRCm39) |
Type of Mutation |
splice site (6 bp from exon) |
DNA Base Change (assembly) |
T to A
at 3836633 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000135590
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005518]
[ENSMUST00000052699]
[ENSMUST00000113968]
[ENSMUST00000113970]
[ENSMUST00000113972]
[ENSMUST00000113973]
[ENSMUST00000113973]
[ENSMUST00000113974]
[ENSMUST00000113977]
[ENSMUST00000176262]
[ENSMUST00000176407]
[ENSMUST00000176512]
[ENSMUST00000176926]
[ENSMUST00000177355]
[ENSMUST00000152935]
|
AlphaFold |
Q3U8K7 |
Predicted Effect |
probably null
Transcript: ENSMUST00000005518
|
SMART Domains |
Protein: ENSMUSP00000005518 Gene: ENSMUSG00000045098
Domain | Start | End | E-Value | Type |
Blast:SET
|
58 |
126 |
4e-37 |
BLAST |
SET
|
199 |
315 |
3.46e-17 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000052699
|
SMART Domains |
Protein: ENSMUSP00000060162 Gene: ENSMUSG00000045098
Domain | Start | End | E-Value | Type |
Blast:SET
|
58 |
126 |
1e-36 |
BLAST |
SET
|
199 |
315 |
3.46e-17 |
SMART |
low complexity region
|
368 |
379 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000113968
|
SMART Domains |
Protein: ENSMUSP00000109601 Gene: ENSMUSG00000045098
Domain | Start | End | E-Value | Type |
Blast:SET
|
58 |
126 |
4e-37 |
BLAST |
SET
|
199 |
315 |
3.46e-17 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000113970
|
SMART Domains |
Protein: ENSMUSP00000109603 Gene: ENSMUSG00000045098
Domain | Start | End | E-Value | Type |
Blast:SET
|
58 |
126 |
1e-36 |
BLAST |
SET
|
199 |
315 |
3.46e-17 |
SMART |
low complexity region
|
368 |
379 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000113972
|
SMART Domains |
Protein: ENSMUSP00000109605 Gene: ENSMUSG00000045098
Domain | Start | End | E-Value | Type |
Blast:SET
|
58 |
126 |
1e-34 |
BLAST |
SET
|
199 |
315 |
3.46e-17 |
SMART |
low complexity region
|
368 |
379 |
N/A |
INTRINSIC |
low complexity region
|
397 |
408 |
N/A |
INTRINSIC |
low complexity region
|
439 |
452 |
N/A |
INTRINSIC |
low complexity region
|
536 |
547 |
N/A |
INTRINSIC |
low complexity region
|
814 |
846 |
N/A |
INTRINSIC |
low complexity region
|
863 |
874 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000113973
|
SMART Domains |
Protein: ENSMUSP00000109606 Gene: ENSMUSG00000045098
Domain | Start | End | E-Value | Type |
Blast:SET
|
58 |
126 |
1e-34 |
BLAST |
SET
|
199 |
315 |
3.46e-17 |
SMART |
low complexity region
|
368 |
379 |
N/A |
INTRINSIC |
low complexity region
|
397 |
408 |
N/A |
INTRINSIC |
low complexity region
|
439 |
452 |
N/A |
INTRINSIC |
low complexity region
|
536 |
547 |
N/A |
INTRINSIC |
low complexity region
|
814 |
846 |
N/A |
INTRINSIC |
low complexity region
|
863 |
874 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000113973
|
SMART Domains |
Protein: ENSMUSP00000109606 Gene: ENSMUSG00000045098
Domain | Start | End | E-Value | Type |
Blast:SET
|
58 |
126 |
1e-34 |
BLAST |
SET
|
199 |
315 |
3.46e-17 |
SMART |
low complexity region
|
368 |
379 |
N/A |
INTRINSIC |
low complexity region
|
397 |
408 |
N/A |
INTRINSIC |
low complexity region
|
439 |
452 |
N/A |
INTRINSIC |
low complexity region
|
536 |
547 |
N/A |
INTRINSIC |
low complexity region
|
814 |
846 |
N/A |
INTRINSIC |
low complexity region
|
863 |
874 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000113974
|
SMART Domains |
Protein: ENSMUSP00000109607 Gene: ENSMUSG00000045098
Domain | Start | End | E-Value | Type |
Blast:SET
|
58 |
107 |
6e-21 |
BLAST |
SET
|
176 |
292 |
3.46e-17 |
SMART |
low complexity region
|
345 |
356 |
N/A |
INTRINSIC |
low complexity region
|
374 |
385 |
N/A |
INTRINSIC |
low complexity region
|
416 |
429 |
N/A |
INTRINSIC |
low complexity region
|
513 |
524 |
N/A |
INTRINSIC |
low complexity region
|
791 |
823 |
N/A |
INTRINSIC |
low complexity region
|
840 |
851 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000113977
|
SMART Domains |
Protein: ENSMUSP00000109610 Gene: ENSMUSG00000045098
Domain | Start | End | E-Value | Type |
Blast:SET
|
58 |
107 |
6e-21 |
BLAST |
SET
|
176 |
292 |
3.46e-17 |
SMART |
low complexity region
|
345 |
356 |
N/A |
INTRINSIC |
low complexity region
|
374 |
385 |
N/A |
INTRINSIC |
low complexity region
|
416 |
429 |
N/A |
INTRINSIC |
low complexity region
|
513 |
524 |
N/A |
INTRINSIC |
low complexity region
|
791 |
823 |
N/A |
INTRINSIC |
low complexity region
|
840 |
851 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000176262
|
SMART Domains |
Protein: ENSMUSP00000135563 Gene: ENSMUSG00000045098
Domain | Start | End | E-Value | Type |
Blast:SET
|
58 |
107 |
6e-21 |
BLAST |
SET
|
176 |
292 |
3.46e-17 |
SMART |
low complexity region
|
345 |
356 |
N/A |
INTRINSIC |
low complexity region
|
374 |
385 |
N/A |
INTRINSIC |
low complexity region
|
416 |
429 |
N/A |
INTRINSIC |
low complexity region
|
513 |
524 |
N/A |
INTRINSIC |
low complexity region
|
791 |
823 |
N/A |
INTRINSIC |
low complexity region
|
840 |
851 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000176407
|
SMART Domains |
Protein: ENSMUSP00000134897 Gene: ENSMUSG00000045098
Domain | Start | End | E-Value | Type |
Blast:SET
|
58 |
87 |
5e-12 |
BLAST |
PDB:3S8P|B
|
64 |
87 |
4e-9 |
PDB |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000176512
|
SMART Domains |
Protein: ENSMUSP00000135004 Gene: ENSMUSG00000045098
Domain | Start | End | E-Value | Type |
Blast:SET
|
58 |
93 |
6e-17 |
BLAST |
PDB:3S8P|B
|
64 |
93 |
6e-14 |
PDB |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000176926
|
SMART Domains |
Protein: ENSMUSP00000135756 Gene: ENSMUSG00000045098
Domain | Start | End | E-Value | Type |
Blast:SET
|
58 |
126 |
3e-36 |
BLAST |
SET
|
199 |
315 |
3.46e-17 |
SMART |
low complexity region
|
368 |
379 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000177355
|
SMART Domains |
Protein: ENSMUSP00000135590 Gene: ENSMUSG00000045098
Domain | Start | End | E-Value | Type |
Blast:SET
|
58 |
111 |
2e-30 |
BLAST |
PDB:3S8P|B
|
64 |
111 |
2e-27 |
PDB |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155618
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000152935
|
SMART Domains |
Protein: ENSMUSP00000115984 Gene: ENSMUSG00000045098
Domain | Start | End | E-Value | Type |
Blast:SET
|
16 |
84 |
9e-39 |
BLAST |
PDB:3S8P|B
|
22 |
212 |
1e-139 |
PDB |
Blast:SET
|
157 |
212 |
4e-32 |
BLAST |
|
Coding Region Coverage |
- 1x: 98.3%
- 3x: 96.3%
- 10x: 84.0%
- 20x: 52.1%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that contains a SET domain. SET domains appear to be protein-protein interaction domains that mediate interactions with a family of proteins that display similarity with dual-specificity phosphatases (dsPTPases). The function of this gene has not been determined. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014] PHENOTYPE: Mice homozygous for a knock-out allele are born at sub-Mendelian ratios, are smaller than control littermates, and die within a few hours of birth, probably due to alveolar defects. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrl3 |
T |
A |
5: 81,935,296 (GRCm39) |
N1276K |
probably damaging |
Het |
Als2cl |
A |
G |
9: 110,713,128 (GRCm39) |
E6G |
probably damaging |
Het |
Ankrd12 |
A |
T |
17: 66,293,269 (GRCm39) |
D721E |
probably benign |
Het |
Anpep |
A |
G |
7: 79,488,155 (GRCm39) |
|
probably null |
Het |
Apob |
A |
T |
12: 8,040,839 (GRCm39) |
I655L |
possibly damaging |
Het |
Atp2b1 |
T |
A |
10: 98,832,810 (GRCm39) |
L437Q |
probably damaging |
Het |
Cacna2d3 |
T |
A |
14: 29,073,779 (GRCm39) |
R222S |
probably damaging |
Het |
Cenpf |
C |
T |
1: 189,384,910 (GRCm39) |
D2457N |
probably damaging |
Het |
Cenpo |
A |
T |
12: 4,265,433 (GRCm39) |
|
probably null |
Het |
Ces2b |
G |
T |
8: 105,562,521 (GRCm39) |
A284S |
probably benign |
Het |
Clock |
T |
C |
5: 76,390,679 (GRCm39) |
D311G |
probably damaging |
Het |
Csmd3 |
T |
C |
15: 47,559,257 (GRCm39) |
|
probably null |
Het |
D430041D05Rik |
GTGATGATGATGATGATGATG |
GTGATGATGATGATGATG |
2: 104,051,553 (GRCm39) |
|
probably benign |
Het |
Dbil5 |
A |
G |
11: 76,109,308 (GRCm39) |
M71V |
probably benign |
Het |
Ddhd1 |
A |
C |
14: 45,833,004 (GRCm39) |
L864R |
probably damaging |
Het |
Dnah11 |
A |
G |
12: 118,024,052 (GRCm39) |
C1900R |
probably damaging |
Het |
Dnah2 |
A |
G |
11: 69,405,514 (GRCm39) |
V666A |
probably benign |
Het |
Dnah5 |
T |
A |
15: 28,252,569 (GRCm39) |
M754K |
probably benign |
Het |
Dnajc15 |
A |
T |
14: 78,063,854 (GRCm39) |
S145T |
probably benign |
Het |
Drap1 |
A |
G |
19: 5,474,285 (GRCm39) |
F25S |
probably damaging |
Het |
Fam83e |
G |
A |
7: 45,376,135 (GRCm39) |
E283K |
probably damaging |
Het |
Fbxo48 |
G |
T |
11: 16,903,368 (GRCm39) |
|
probably benign |
Het |
Fndc3a |
A |
T |
14: 72,793,997 (GRCm39) |
I892N |
probably damaging |
Het |
Gcn1 |
A |
G |
5: 115,753,611 (GRCm39) |
T2321A |
probably benign |
Het |
Greb1l |
A |
G |
18: 10,554,997 (GRCm39) |
D1681G |
possibly damaging |
Het |
Hmcn2 |
A |
C |
2: 31,294,899 (GRCm39) |
T2563P |
probably damaging |
Het |
Iqcd |
A |
T |
5: 120,738,300 (GRCm39) |
K39N |
probably damaging |
Het |
Kank2 |
A |
G |
9: 21,685,871 (GRCm39) |
S668P |
probably damaging |
Het |
Kcng1 |
T |
A |
2: 168,110,961 (GRCm39) |
N68Y |
probably damaging |
Het |
Lama2 |
T |
A |
10: 27,200,750 (GRCm39) |
I533F |
possibly damaging |
Het |
Lcmt1 |
T |
A |
7: 123,002,131 (GRCm39) |
I132N |
probably damaging |
Het |
Mcph1 |
T |
C |
8: 18,851,428 (GRCm39) |
I807T |
probably damaging |
Het |
Mdn1 |
A |
G |
4: 32,722,315 (GRCm39) |
I2366V |
probably benign |
Het |
Moxd1 |
T |
C |
10: 24,176,217 (GRCm39) |
W558R |
probably damaging |
Het |
Mtus2 |
A |
C |
5: 148,013,362 (GRCm39) |
K52Q |
probably benign |
Het |
Myrf |
T |
C |
19: 10,202,851 (GRCm39) |
D141G |
probably damaging |
Het |
Naca |
G |
T |
10: 127,876,267 (GRCm39) |
|
probably benign |
Het |
Ncoa7 |
T |
C |
10: 30,570,097 (GRCm39) |
I249M |
probably damaging |
Het |
Obox5 |
T |
C |
7: 15,492,558 (GRCm39) |
V171A |
probably damaging |
Het |
Or13e8 |
A |
T |
4: 43,697,134 (GRCm39) |
V13D |
possibly damaging |
Het |
Or13p3 |
T |
A |
4: 118,566,751 (GRCm39) |
I49N |
probably damaging |
Het |
Or2c1 |
T |
C |
16: 3,657,521 (GRCm39) |
I228T |
probably damaging |
Het |
Or5ak20 |
A |
T |
2: 85,184,243 (GRCm39) |
V9E |
probably damaging |
Het |
Or6c219 |
A |
G |
10: 129,781,379 (GRCm39) |
L69P |
probably damaging |
Het |
Or7a36 |
C |
A |
10: 78,819,820 (GRCm39) |
N32K |
probably damaging |
Het |
Parp4 |
A |
G |
14: 56,839,752 (GRCm39) |
T487A |
probably damaging |
Het |
Pclo |
A |
G |
5: 14,729,845 (GRCm39) |
|
probably benign |
Het |
Pcnx2 |
G |
A |
8: 126,500,669 (GRCm39) |
R1474C |
probably damaging |
Het |
Pkd1l3 |
A |
G |
8: 110,341,445 (GRCm39) |
I99M |
unknown |
Het |
Ruvbl1 |
T |
C |
6: 88,456,136 (GRCm39) |
V70A |
probably damaging |
Het |
Sart1 |
G |
A |
19: 5,430,287 (GRCm39) |
P788L |
probably damaging |
Het |
Sdk1 |
A |
G |
5: 141,984,634 (GRCm39) |
T740A |
probably benign |
Het |
Serpinb1c |
T |
C |
13: 33,072,979 (GRCm39) |
D61G |
possibly damaging |
Het |
Sfi1 |
TCGC |
TC |
11: 3,096,254 (GRCm39) |
|
probably null |
Het |
Slc24a5 |
G |
A |
2: 124,922,782 (GRCm39) |
G152S |
probably damaging |
Het |
Slc6a4 |
A |
T |
11: 76,910,022 (GRCm39) |
I426F |
possibly damaging |
Het |
Srsf4 |
T |
A |
4: 131,625,006 (GRCm39) |
D134E |
probably damaging |
Het |
Stk33 |
C |
T |
7: 108,879,027 (GRCm39) |
V441I |
probably benign |
Het |
Sult1c2 |
A |
G |
17: 54,143,927 (GRCm39) |
|
probably null |
Het |
Tdpoz4 |
T |
A |
3: 93,703,835 (GRCm39) |
V44E |
probably benign |
Het |
Tdrd6 |
G |
A |
17: 43,936,515 (GRCm39) |
S1511L |
probably damaging |
Het |
Tmprss13 |
C |
A |
9: 45,254,529 (GRCm39) |
T432K |
probably damaging |
Het |
Traf7 |
A |
G |
17: 24,729,527 (GRCm39) |
L428P |
probably damaging |
Het |
Tubb1 |
T |
C |
2: 174,299,215 (GRCm39) |
I299T |
probably benign |
Het |
Vmn1r158 |
A |
T |
7: 22,489,772 (GRCm39) |
W146R |
probably damaging |
Het |
Vmn1r42 |
A |
G |
6: 89,822,059 (GRCm39) |
I170T |
possibly damaging |
Het |
Vmn1r42 |
C |
T |
6: 89,822,363 (GRCm39) |
G69S |
probably damaging |
Het |
Vmn2r116 |
A |
T |
17: 23,606,063 (GRCm39) |
H325L |
probably damaging |
Het |
Zfp516 |
T |
A |
18: 83,011,300 (GRCm39) |
L1111H |
possibly damaging |
Het |
Zfp61 |
C |
G |
7: 23,990,635 (GRCm39) |
K505N |
probably damaging |
Het |
Zfp653 |
C |
A |
9: 21,969,274 (GRCm39) |
E331* |
probably null |
Het |
Zfp949 |
A |
T |
9: 88,451,830 (GRCm39) |
K467* |
probably null |
Het |
|
Other mutations in Kmt5b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01521:Kmt5b
|
APN |
19 |
3,836,618 (GRCm39) |
missense |
possibly damaging |
0.86 |
IGL02005:Kmt5b
|
APN |
19 |
3,836,538 (GRCm39) |
missense |
possibly damaging |
0.50 |
IGL02058:Kmt5b
|
APN |
19 |
3,843,181 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02069:Kmt5b
|
APN |
19 |
3,857,335 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02395:Kmt5b
|
APN |
19 |
3,864,887 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02701:Kmt5b
|
APN |
19 |
3,846,681 (GRCm39) |
missense |
probably benign |
0.08 |
loony
|
UTSW |
19 |
3,854,501 (GRCm39) |
missense |
possibly damaging |
0.79 |
Tunes
|
UTSW |
19 |
3,852,799 (GRCm39) |
nonsense |
probably null |
|
P0047:Kmt5b
|
UTSW |
19 |
3,843,223 (GRCm39) |
splice site |
probably benign |
|
R0127:Kmt5b
|
UTSW |
19 |
3,836,465 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
R1574:Kmt5b
|
UTSW |
19 |
3,836,633 (GRCm39) |
splice site |
probably null |
|
R1797:Kmt5b
|
UTSW |
19 |
3,864,833 (GRCm39) |
missense |
probably benign |
0.03 |
R2178:Kmt5b
|
UTSW |
19 |
3,865,372 (GRCm39) |
missense |
possibly damaging |
0.68 |
R2418:Kmt5b
|
UTSW |
19 |
3,857,266 (GRCm39) |
missense |
probably benign |
0.00 |
R4290:Kmt5b
|
UTSW |
19 |
3,852,193 (GRCm39) |
missense |
possibly damaging |
0.51 |
R4789:Kmt5b
|
UTSW |
19 |
3,865,330 (GRCm39) |
missense |
probably benign |
0.00 |
R4939:Kmt5b
|
UTSW |
19 |
3,865,245 (GRCm39) |
missense |
possibly damaging |
0.88 |
R5133:Kmt5b
|
UTSW |
19 |
3,852,240 (GRCm39) |
missense |
probably damaging |
1.00 |
R5392:Kmt5b
|
UTSW |
19 |
3,852,127 (GRCm39) |
missense |
possibly damaging |
0.84 |
R5568:Kmt5b
|
UTSW |
19 |
3,836,538 (GRCm39) |
missense |
probably benign |
0.00 |
R6029:Kmt5b
|
UTSW |
19 |
3,852,104 (GRCm39) |
missense |
probably damaging |
0.99 |
R6184:Kmt5b
|
UTSW |
19 |
3,854,499 (GRCm39) |
missense |
probably damaging |
1.00 |
R6649:Kmt5b
|
UTSW |
19 |
3,857,295 (GRCm39) |
missense |
probably damaging |
0.96 |
R7043:Kmt5b
|
UTSW |
19 |
3,865,220 (GRCm39) |
missense |
possibly damaging |
0.47 |
R7131:Kmt5b
|
UTSW |
19 |
3,865,412 (GRCm39) |
missense |
probably benign |
0.00 |
R7203:Kmt5b
|
UTSW |
19 |
3,864,147 (GRCm39) |
missense |
probably damaging |
1.00 |
R7287:Kmt5b
|
UTSW |
19 |
3,854,501 (GRCm39) |
missense |
possibly damaging |
0.79 |
R7468:Kmt5b
|
UTSW |
19 |
3,852,799 (GRCm39) |
nonsense |
probably null |
|
R7850:Kmt5b
|
UTSW |
19 |
3,865,043 (GRCm39) |
missense |
probably damaging |
1.00 |
R8103:Kmt5b
|
UTSW |
19 |
3,865,381 (GRCm39) |
missense |
probably benign |
0.00 |
R8334:Kmt5b
|
UTSW |
19 |
3,864,795 (GRCm39) |
missense |
probably benign |
0.00 |
R8336:Kmt5b
|
UTSW |
19 |
3,865,531 (GRCm39) |
missense |
probably damaging |
1.00 |
R9192:Kmt5b
|
UTSW |
19 |
3,854,442 (GRCm39) |
missense |
probably damaging |
0.98 |
R9199:Kmt5b
|
UTSW |
19 |
3,865,525 (GRCm39) |
missense |
probably damaging |
1.00 |
R9683:Kmt5b
|
UTSW |
19 |
3,865,587 (GRCm39) |
makesense |
probably null |
|
Z1176:Kmt5b
|
UTSW |
19 |
3,843,118 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- TCCAAGAACATGGTGGTGAATGGC -3'
(R):5'- CCACTCCTCATGGAAAAGAGGTGAC -3'
Sequencing Primer
(F):5'- TGGTGGTGAATGGCAGGAG -3'
(R):5'- agggaggggagatgggg -3'
|
Posted On |
2017-12-01 |