Incidental Mutation 'R6649:Kmt5b'
ID |
527714 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kmt5b
|
Ensembl Gene |
ENSMUSG00000045098 |
Gene Name |
lysine methyltransferase 5B |
Synonyms |
Suv420h1, C630029K18Rik, Suv4-20h1 |
MMRRC Submission |
044770-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6649 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
3817421-3868303 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 3857295 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Arginine
at position 351
(G351R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000109606
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005518]
[ENSMUST00000052699]
[ENSMUST00000113968]
[ENSMUST00000113970]
[ENSMUST00000113972]
[ENSMUST00000113973]
[ENSMUST00000113974]
[ENSMUST00000113977]
[ENSMUST00000176262]
[ENSMUST00000176926]
[ENSMUST00000152935]
|
AlphaFold |
Q3U8K7 |
PDB Structure |
A novel route to product specificity in the Suv4-20 family of histone H4K20 methyltransferases [X-RAY DIFFRACTION]
|
Predicted Effect |
probably benign
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 damaging
Transcript: ENSMUST00000052699
AA Change: G351R
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000060162 Gene: ENSMUSG00000045098 AA Change: G351R
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 benign
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 damaging
Transcript: ENSMUST00000113970
AA Change: G351R
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000109603 Gene: ENSMUSG00000045098 AA Change: G351R
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 damaging
Transcript: ENSMUST00000113972
AA Change: G351R
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000109605 Gene: ENSMUSG00000045098 AA Change: G351R
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 damaging
Transcript: ENSMUST00000113973
AA Change: G351R
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000109606 Gene: ENSMUSG00000045098 AA Change: G351R
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 |
possibly damaging
Transcript: ENSMUST00000113974
AA Change: G328R
PolyPhen 2
Score 0.478 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000109607 Gene: ENSMUSG00000045098 AA Change: G328R
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 |
possibly damaging
Transcript: ENSMUST00000113977
AA Change: G328R
PolyPhen 2
Score 0.478 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000109610 Gene: ENSMUSG00000045098 AA Change: G328R
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 |
possibly damaging
Transcript: ENSMUST00000176262
AA Change: G328R
PolyPhen 2
Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000135563 Gene: ENSMUSG00000045098 AA Change: G328R
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 benign
Transcript: ENSMUST00000176926
AA Change: G351R
PolyPhen 2
Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000135756 Gene: ENSMUSG00000045098 AA Change: G351R
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 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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000118575
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176125
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.3%
- 20x: 95.1%
|
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc2 |
T |
A |
19: 43,800,941 (GRCm39) |
H627Q |
probably benign |
Het |
Abra |
G |
A |
15: 41,732,629 (GRCm39) |
L146F |
probably benign |
Het |
Adamts7 |
T |
C |
9: 90,073,990 (GRCm39) |
C857R |
probably damaging |
Het |
Ankhd1 |
A |
T |
18: 36,733,836 (GRCm39) |
|
probably null |
Het |
Asb15 |
A |
G |
6: 24,562,632 (GRCm39) |
N198S |
probably benign |
Het |
Asb16 |
A |
T |
11: 102,159,863 (GRCm39) |
Q72L |
possibly damaging |
Het |
Atosa |
T |
G |
9: 74,917,432 (GRCm39) |
L677R |
probably damaging |
Het |
Bbox1 |
G |
T |
2: 110,135,914 (GRCm39) |
H22N |
probably benign |
Het |
Bcdin3d |
T |
C |
15: 99,368,696 (GRCm39) |
T168A |
probably damaging |
Het |
Bmp1 |
A |
T |
14: 70,728,058 (GRCm39) |
W624R |
probably damaging |
Het |
Cdh18 |
A |
T |
15: 23,436,620 (GRCm39) |
Y492F |
possibly damaging |
Het |
Cep290 |
A |
C |
10: 100,354,393 (GRCm39) |
D848A |
probably benign |
Het |
Cip2a |
A |
T |
16: 48,837,829 (GRCm39) |
Q843L |
probably damaging |
Het |
Cmya5 |
G |
C |
13: 93,234,533 (GRCm39) |
S185C |
possibly damaging |
Het |
Cops9 |
C |
T |
1: 92,568,136 (GRCm39) |
|
probably benign |
Het |
Cutal |
C |
T |
2: 34,775,933 (GRCm39) |
T88I |
probably benign |
Het |
Dlg4 |
G |
T |
11: 69,914,779 (GRCm39) |
|
probably benign |
Het |
Dnah7c |
C |
A |
1: 46,688,500 (GRCm39) |
T1890K |
probably benign |
Het |
Dnah7c |
A |
G |
1: 46,688,511 (GRCm39) |
S1894G |
probably benign |
Het |
Eef2 |
CCC |
CCCC |
10: 81,014,602 (GRCm39) |
|
probably null |
Het |
Erp44 |
T |
C |
4: 48,205,130 (GRCm39) |
I288V |
probably null |
Het |
Fat3 |
T |
C |
9: 16,288,038 (GRCm39) |
D495G |
probably damaging |
Het |
Fsip2 |
T |
C |
2: 82,798,161 (GRCm39) |
V485A |
possibly damaging |
Het |
Gm14496 |
A |
T |
2: 181,639,269 (GRCm39) |
H453L |
possibly damaging |
Het |
Gm17027 |
T |
C |
14: 41,981,236 (GRCm39) |
T207A |
unknown |
Het |
Gm6902 |
T |
G |
7: 22,973,159 (GRCm39) |
T123P |
possibly damaging |
Het |
Gpat2 |
T |
G |
2: 127,274,355 (GRCm39) |
W366G |
possibly damaging |
Het |
Heatr6 |
A |
T |
11: 83,650,191 (GRCm39) |
T216S |
probably benign |
Het |
Hsd17b14 |
T |
C |
7: 45,205,500 (GRCm39) |
V11A |
probably damaging |
Het |
Jak2 |
T |
A |
19: 29,266,110 (GRCm39) |
I517N |
probably benign |
Het |
Mau2 |
G |
T |
8: 70,484,166 (GRCm39) |
Q141K |
possibly damaging |
Het |
Mfsd13a |
T |
C |
19: 46,356,305 (GRCm39) |
F137L |
probably damaging |
Het |
Mfsd13a |
A |
G |
19: 46,360,704 (GRCm39) |
H394R |
probably benign |
Het |
Mfsd14b |
A |
T |
13: 65,214,599 (GRCm39) |
I451N |
probably damaging |
Het |
Milr1 |
C |
T |
11: 106,648,537 (GRCm39) |
H143Y |
probably benign |
Het |
Mon2 |
T |
G |
10: 122,874,385 (GRCm39) |
K321T |
possibly damaging |
Het |
Nlrp9c |
T |
A |
7: 26,070,747 (GRCm39) |
N945Y |
probably damaging |
Het |
Nwd2 |
A |
G |
5: 63,882,527 (GRCm39) |
R60G |
possibly damaging |
Het |
Or2z2 |
A |
T |
11: 58,346,394 (GRCm39) |
I127N |
probably damaging |
Het |
Or52b2 |
T |
C |
7: 104,986,914 (GRCm39) |
H3R |
probably benign |
Het |
Or8g20 |
A |
G |
9: 39,396,048 (GRCm39) |
V164A |
probably benign |
Het |
Papola |
A |
T |
12: 105,778,566 (GRCm39) |
I315L |
possibly damaging |
Het |
Phf3 |
A |
T |
1: 30,844,104 (GRCm39) |
S1618R |
possibly damaging |
Het |
Phyhipl |
A |
G |
10: 70,404,843 (GRCm39) |
F77L |
probably damaging |
Het |
Ppp3cb |
A |
G |
14: 20,581,094 (GRCm39) |
L110P |
probably damaging |
Het |
Prss53 |
T |
G |
7: 127,485,747 (GRCm39) |
E531A |
probably benign |
Het |
Raf1 |
A |
T |
6: 115,608,302 (GRCm39) |
H236Q |
probably benign |
Het |
Ryr2 |
A |
G |
13: 11,610,529 (GRCm39) |
V4099A |
probably damaging |
Het |
Sfxn3 |
G |
A |
19: 45,038,354 (GRCm39) |
|
probably null |
Het |
Sh3pxd2b |
T |
C |
11: 32,365,978 (GRCm39) |
|
probably null |
Het |
Slco6c1 |
C |
T |
1: 97,053,436 (GRCm39) |
S155N |
probably benign |
Het |
Speer4f2 |
A |
G |
5: 17,580,767 (GRCm39) |
T115A |
probably benign |
Het |
Spry1 |
T |
C |
3: 37,696,871 (GRCm39) |
I38T |
probably damaging |
Het |
Tagap |
T |
C |
17: 8,152,546 (GRCm39) |
V577A |
probably benign |
Het |
Ubr4 |
C |
A |
4: 139,200,935 (GRCm39) |
H4706Q |
possibly damaging |
Het |
Vmn2r112 |
T |
A |
17: 22,820,160 (GRCm39) |
L11Q |
probably null |
Het |
Zfp60 |
T |
C |
7: 27,448,151 (GRCm39) |
F273S |
probably benign |
Het |
Zfp938 |
A |
T |
10: 82,061,232 (GRCm39) |
Y463N |
probably damaging |
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 |
|
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 |
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 |
|
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Predicted Primers |
PCR Primer
(F):5'- GAGACCTCATCAGTTCATCTCAGC -3'
(R):5'- TCCTAGGGCATGCTACAGAC -3'
Sequencing Primer
(F):5'- TCAGCCCTTGACCTAACGTGG -3'
(R):5'- TCCTAGGGCATGCTACAGAC -3'
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Posted On |
2018-07-23 |