Incidental Mutation 'IGL02701:Kmt5b'
| ID |
304143 |
| 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 # |
IGL02701
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
3817421-3868303 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 3846681 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 118
(D118G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109606
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005518]
[ENSMUST00000052699]
[ENSMUST00000113968]
[ENSMUST00000113970]
[ENSMUST00000113972]
[ENSMUST00000113973]
[ENSMUST00000113974]
[ENSMUST00000176926]
[ENSMUST00000152935]
[ENSMUST00000113977]
[ENSMUST00000176262]
[ENSMUST00000176407]
[ENSMUST00000177355]
[ENSMUST00000176512]
|
| 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
AA Change: D118G
PolyPhen 2
Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000005518
Gene: ENSMUSG00000045098
AA Change: D118G
| 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: D118G
PolyPhen 2
Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000060162
Gene: ENSMUSG00000045098
AA Change: D118G
| 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: D118G
PolyPhen 2
Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000109601
Gene: ENSMUSG00000045098
AA Change: D118G
| 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: D118G
PolyPhen 2
Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000109603
Gene: ENSMUSG00000045098
AA Change: D118G
| 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: D118G
PolyPhen 2
Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000109605
Gene: ENSMUSG00000045098
AA Change: D118G
| 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: D118G
PolyPhen 2
Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000109606
Gene: ENSMUSG00000045098
AA Change: D118G
| 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
|
| 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 benign
Transcript: ENSMUST00000176926
AA Change: D118G
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000135756
Gene: ENSMUSG00000045098
AA Change: D118G
| 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
AA Change: D76G
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000115984
Gene: ENSMUSG00000045098
AA Change: D76G
| 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: ENSMUST00000135586
|
| Predicted Effect |
probably benign
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 benign
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 benign
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 benign
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 |
probably benign
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 |
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap21 |
A |
G |
2: 20,896,902 (GRCm39) |
C125R |
probably damaging |
Het |
| Blmh |
A |
G |
11: 76,862,736 (GRCm39) |
D383G |
probably benign |
Het |
| Brca1 |
T |
C |
11: 101,416,061 (GRCm39) |
E691G |
probably damaging |
Het |
| Chrm3 |
G |
A |
13: 9,928,500 (GRCm39) |
R179* |
probably null |
Het |
| Cnrip1 |
A |
G |
11: 17,028,415 (GRCm39) |
T116A |
probably benign |
Het |
| Csmd2 |
T |
C |
4: 128,389,934 (GRCm39) |
V2223A |
probably benign |
Het |
| Dalrd3 |
T |
A |
9: 108,449,483 (GRCm39) |
V143D |
possibly damaging |
Het |
| Ddx60 |
A |
T |
8: 62,432,375 (GRCm39) |
I886L |
probably damaging |
Het |
| Dennd4a |
T |
C |
9: 64,804,635 (GRCm39) |
F1325L |
possibly damaging |
Het |
| Dnmt3l |
A |
T |
10: 77,890,856 (GRCm39) |
T253S |
probably benign |
Het |
| Fads2b |
A |
G |
2: 85,314,513 (GRCm39) |
L480P |
probably damaging |
Het |
| Ftdc1 |
G |
A |
16: 58,436,170 (GRCm39) |
S51L |
probably benign |
Het |
| Gde1 |
T |
A |
7: 118,297,860 (GRCm39) |
T9S |
probably damaging |
Het |
| Ggcx |
T |
A |
6: 72,395,455 (GRCm39) |
|
probably benign |
Het |
| Hspg2 |
C |
T |
4: 137,284,485 (GRCm39) |
A3481V |
probably damaging |
Het |
| Igf1r |
T |
C |
7: 67,850,997 (GRCm39) |
Y931H |
possibly damaging |
Het |
| Ighv12-3 |
A |
C |
12: 114,330,421 (GRCm39) |
S25A |
probably damaging |
Het |
| Itga5 |
A |
C |
15: 103,256,193 (GRCm39) |
C920G |
probably damaging |
Het |
| Lrp1b |
T |
G |
2: 41,136,029 (GRCm39) |
N1647T |
possibly damaging |
Het |
| Lrrc71 |
T |
C |
3: 87,649,079 (GRCm39) |
E363G |
probably benign |
Het |
| Mapk1 |
A |
G |
16: 16,833,770 (GRCm39) |
Y41C |
probably benign |
Het |
| Mib1 |
T |
C |
18: 10,747,357 (GRCm39) |
V178A |
probably damaging |
Het |
| Or13c7d |
A |
G |
4: 43,770,366 (GRCm39) |
I215T |
probably benign |
Het |
| Or5m10b |
A |
G |
2: 85,699,802 (GRCm39) |
I289V |
probably benign |
Het |
| Or5p52 |
A |
T |
7: 107,502,649 (GRCm39) |
T242S |
probably benign |
Het |
| Plb1 |
T |
C |
5: 32,521,541 (GRCm39) |
V1464A |
unknown |
Het |
| Plekhg5 |
T |
C |
4: 152,187,479 (GRCm39) |
S82P |
probably damaging |
Het |
| Plxna4 |
T |
C |
6: 32,494,494 (GRCm39) |
T41A |
probably benign |
Het |
| Ppip5k1 |
A |
C |
2: 121,147,130 (GRCm39) |
|
probably null |
Het |
| Pttg1ip2 |
A |
G |
5: 5,516,623 (GRCm39) |
|
probably null |
Het |
| Rpl14 |
T |
C |
9: 120,402,639 (GRCm39) |
|
probably benign |
Het |
| Slc44a2 |
T |
C |
9: 21,259,247 (GRCm39) |
F554L |
probably benign |
Het |
| Slco1b2 |
T |
A |
6: 141,631,271 (GRCm39) |
V635E |
probably benign |
Het |
| Sv2a |
T |
A |
3: 96,094,447 (GRCm39) |
C261S |
probably damaging |
Het |
| Thbs2 |
T |
C |
17: 14,903,623 (GRCm39) |
I353V |
probably benign |
Het |
| Tspan4 |
G |
A |
7: 141,071,941 (GRCm39) |
V205M |
probably damaging |
Het |
| Vezf1 |
A |
T |
11: 87,967,047 (GRCm39) |
R93* |
probably null |
Het |
| Wwox |
T |
A |
8: 115,433,108 (GRCm39) |
V258D |
probably damaging |
Het |
| Zmynd12 |
G |
T |
4: 119,301,952 (GRCm39) |
|
probably benign |
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 |
|
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 |
2015-04-16 |
Incidental Mutation