Incidental Mutation 'IGL01521:Kmt5b'
ID |
90516 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Kmt5b
|
Ensembl Gene |
ENSMUSG00000045098 |
Gene Name |
lysine methyltransferase 5B |
Synonyms |
Suv420h1, C630029K18Rik, Suv4-20h1 |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL01521
|
Quality Score |
|
Status
|
|
Chromosome |
19 |
Chromosomal Location |
3817421-3868303 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 3836618 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 52
(S52T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000135756
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005518]
[ENSMUST00000052699]
[ENSMUST00000113968]
[ENSMUST00000113970]
[ENSMUST00000113972]
[ENSMUST00000113973]
[ENSMUST00000113974]
[ENSMUST00000176926]
[ENSMUST00000113977]
[ENSMUST00000176407]
[ENSMUST00000177355]
[ENSMUST00000176512]
[ENSMUST00000176262]
[ENSMUST00000152935]
|
AlphaFold |
Q3U8K7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000005518
AA Change: S52T
PolyPhen 2
Score 0.320 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000005518 Gene: ENSMUSG00000045098 AA Change: S52T
Domain | Start | End | E-Value | Type |
Blast:SET
|
58 |
126 |
4e-37 |
BLAST |
SET
|
199 |
315 |
3.46e-17 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000052699
AA Change: S52T
PolyPhen 2
Score 0.320 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000060162 Gene: ENSMUSG00000045098 AA Change: S52T
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
AA Change: S52T
PolyPhen 2
Score 0.320 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000109601 Gene: ENSMUSG00000045098 AA Change: S52T
Domain | Start | End | E-Value | Type |
Blast:SET
|
58 |
126 |
4e-37 |
BLAST |
SET
|
199 |
315 |
3.46e-17 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000113970
AA Change: S52T
PolyPhen 2
Score 0.320 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000109603 Gene: ENSMUSG00000045098 AA Change: S52T
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: ENSMUST00000113972
AA Change: S52T
PolyPhen 2
Score 0.320 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000109605 Gene: ENSMUSG00000045098 AA Change: S52T
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 benign
Transcript: ENSMUST00000113973
AA Change: S52T
PolyPhen 2
Score 0.320 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000109606 Gene: ENSMUSG00000045098 AA Change: S52T
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 benign
Transcript: ENSMUST00000113974
AA Change: S52T
PolyPhen 2
Score 0.320 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000109607 Gene: ENSMUSG00000045098 AA Change: S52T
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: ENSMUST00000176926
AA Change: S52T
PolyPhen 2
Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000135756 Gene: ENSMUSG00000045098 AA Change: S52T
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: ENSMUST00000113977
AA Change: S52T
PolyPhen 2
Score 0.320 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000109610 Gene: ENSMUSG00000045098 AA Change: S52T
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: ENSMUST00000176407
AA Change: S52T
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000134897 Gene: ENSMUSG00000045098 AA Change: S52T
Domain | Start | End | E-Value | Type |
Blast:SET
|
58 |
87 |
5e-12 |
BLAST |
PDB:3S8P|B
|
64 |
87 |
4e-9 |
PDB |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000177355
AA Change: S52T
PolyPhen 2
Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000135590 Gene: ENSMUSG00000045098 AA Change: S52T
Domain | Start | End | E-Value | Type |
Blast:SET
|
58 |
111 |
2e-30 |
BLAST |
PDB:3S8P|B
|
64 |
111 |
2e-27 |
PDB |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000176512
AA Change: S52T
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000135004 Gene: ENSMUSG00000045098 AA Change: S52T
Domain | Start | End | E-Value | Type |
Blast:SET
|
58 |
93 |
6e-17 |
BLAST |
PDB:3S8P|B
|
64 |
93 |
6e-14 |
PDB |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000176262
AA Change: S52T
PolyPhen 2
Score 0.320 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000135563 Gene: ENSMUSG00000045098 AA Change: S52T
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 |
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 |
|
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aars1 |
A |
T |
8: 111,770,419 (GRCm39) |
I406F |
possibly damaging |
Het |
Adgrb2 |
A |
G |
4: 129,886,085 (GRCm39) |
E75G |
probably damaging |
Het |
Angptl2 |
T |
C |
2: 33,136,215 (GRCm39) |
Y467H |
probably damaging |
Het |
Arap1 |
G |
T |
7: 101,049,812 (GRCm39) |
|
probably null |
Het |
Arfgap1 |
G |
A |
2: 180,613,371 (GRCm39) |
C22Y |
probably damaging |
Het |
Artn |
G |
A |
4: 117,784,484 (GRCm39) |
P25S |
probably damaging |
Het |
Bicra |
G |
T |
7: 15,723,113 (GRCm39) |
Q135K |
probably benign |
Het |
Clpx |
T |
C |
9: 65,226,026 (GRCm39) |
V367A |
probably damaging |
Het |
Clstn3 |
C |
T |
6: 124,434,990 (GRCm39) |
W308* |
probably null |
Het |
Cpb2 |
T |
A |
14: 75,495,071 (GRCm39) |
V67D |
probably damaging |
Het |
Cyp2c38 |
A |
G |
19: 39,449,114 (GRCm39) |
Y80H |
probably damaging |
Het |
Dbt |
A |
G |
3: 116,327,032 (GRCm39) |
D127G |
probably benign |
Het |
Elp1 |
T |
A |
4: 56,771,059 (GRCm39) |
E961D |
probably benign |
Het |
Fhod1 |
G |
A |
8: 106,057,055 (GRCm39) |
A973V |
probably benign |
Het |
Flacc1 |
T |
G |
1: 58,709,553 (GRCm39) |
K201Q |
probably damaging |
Het |
Focad |
A |
T |
4: 88,328,927 (GRCm39) |
*1713C |
probably null |
Het |
Gemin5 |
A |
T |
11: 58,025,744 (GRCm39) |
|
probably benign |
Het |
Gpr22 |
C |
T |
12: 31,758,709 (GRCm39) |
|
probably benign |
Het |
Kif23 |
T |
A |
9: 61,827,182 (GRCm39) |
T890S |
probably damaging |
Het |
Lipo3 |
A |
T |
19: 33,763,083 (GRCm39) |
D53E |
probably damaging |
Het |
Lrrc14b |
G |
A |
13: 74,511,691 (GRCm39) |
R130C |
probably damaging |
Het |
Myt1 |
T |
A |
2: 181,467,704 (GRCm39) |
I1046K |
probably damaging |
Het |
Napsa |
A |
T |
7: 44,236,061 (GRCm39) |
I367F |
probably damaging |
Het |
Or5aq1b |
C |
T |
2: 86,902,077 (GRCm39) |
V134I |
probably benign |
Het |
Or8b56 |
A |
T |
9: 38,739,185 (GRCm39) |
Y66F |
probably damaging |
Het |
Rgcc |
T |
G |
14: 79,538,185 (GRCm39) |
S69R |
probably damaging |
Het |
Rin3 |
T |
A |
12: 102,335,307 (GRCm39) |
I326N |
probably benign |
Het |
Sipa1 |
C |
A |
19: 5,711,006 (GRCm39) |
M1I |
probably null |
Het |
Sirpb1a |
T |
A |
3: 15,475,561 (GRCm39) |
M325L |
probably benign |
Het |
Sult1a1 |
C |
A |
7: 126,274,451 (GRCm39) |
V71F |
possibly damaging |
Het |
Tgds |
G |
T |
14: 118,350,506 (GRCm39) |
P349Q |
probably damaging |
Het |
Tmem63c |
T |
A |
12: 87,115,918 (GRCm39) |
H186Q |
probably damaging |
Het |
Trappc9 |
A |
G |
15: 72,924,016 (GRCm39) |
L242S |
probably damaging |
Het |
Trip12 |
T |
A |
1: 84,743,919 (GRCm39) |
|
probably benign |
Het |
Zfp451 |
T |
C |
1: 33,816,412 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Kmt5b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
|
|
Posted On |
2013-12-09 |