Incidental Mutation 'R9192:Kmt5b'
| ID |
697777 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kmt5b
|
| Ensembl Gene |
ENSMUSG00000045098 |
| Gene Name |
lysine methyltransferase 5B |
| Synonyms |
Suv420h1, C630029K18Rik, Suv4-20h1 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9192 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
3817421-3868303 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 3854442 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 235
(L235P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109601
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005518]
[ENSMUST00000052699]
[ENSMUST00000113968]
[ENSMUST00000113970]
[ENSMUST00000113972]
[ENSMUST00000113973]
[ENSMUST00000113974]
[ENSMUST00000113977]
[ENSMUST00000152935]
[ENSMUST00000176262]
[ENSMUST00000176926]
|
| AlphaFold |
Q3U8K7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000005518
AA Change: L235P
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000005518
Gene: ENSMUSG00000045098
AA Change: L235P
| 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: L235P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000060162
Gene: ENSMUSG00000045098
AA Change: L235P
| 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: ENSMUST00000113968
AA Change: L235P
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000109601
Gene: ENSMUSG00000045098
AA Change: L235P
| 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: L235P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000109603
Gene: ENSMUSG00000045098
AA Change: L235P
| 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: L235P
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000109605
Gene: ENSMUSG00000045098
AA Change: L235P
| 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: L235P
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000109606
Gene: ENSMUSG00000045098
AA Change: L235P
| 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: ENSMUST00000113974
AA Change: L212P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109607
Gene: ENSMUSG00000045098
AA Change: L212P
| 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 damaging
Transcript: ENSMUST00000113977
AA Change: L212P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109610
Gene: ENSMUSG00000045098
AA Change: L212P
| 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 damaging
Transcript: ENSMUST00000152935
AA Change: L193P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000115984
Gene: ENSMUSG00000045098
AA Change: L193P
| 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 |
probably damaging
Transcript: ENSMUST00000176262
AA Change: L212P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000135563
Gene: ENSMUSG00000045098
AA Change: L212P
| 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 damaging
Transcript: ENSMUST00000176926
AA Change: L235P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000135756
Gene: ENSMUSG00000045098
AA Change: L235P
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap13 |
T |
A |
7: 75,354,249 (GRCm39) |
M71K |
probably benign |
Het |
| Angptl4 |
C |
T |
17: 34,000,285 (GRCm39) |
A28T |
probably benign |
Het |
| Baz1b |
T |
G |
5: 135,239,648 (GRCm39) |
N249K |
possibly damaging |
Het |
| BC035947 |
A |
T |
1: 78,475,877 (GRCm39) |
Y218* |
probably null |
Het |
| Ctbp1 |
T |
C |
5: 33,408,333 (GRCm39) |
I211V |
probably benign |
Het |
| Dars1 |
T |
C |
1: 128,299,889 (GRCm39) |
E365G |
probably benign |
Het |
| E2f7 |
G |
T |
10: 110,599,851 (GRCm39) |
R202L |
probably damaging |
Het |
| Fscb |
A |
C |
12: 64,520,890 (GRCm39) |
I192S |
possibly damaging |
Het |
| Fsip2 |
A |
G |
2: 82,817,844 (GRCm39) |
I4526V |
probably benign |
Het |
| Gucy2e |
A |
T |
11: 69,127,303 (GRCm39) |
F57I |
probably damaging |
Het |
| Hcar2 |
A |
T |
5: 124,003,354 (GRCm39) |
C50S |
possibly damaging |
Het |
| Herc1 |
G |
A |
9: 66,321,413 (GRCm39) |
V1267I |
probably benign |
Het |
| Kansl1 |
A |
T |
11: 104,227,142 (GRCm39) |
D845E |
probably damaging |
Het |
| Kdm2b |
T |
A |
5: 123,070,679 (GRCm39) |
T473S |
probably benign |
Het |
| Klhdc10 |
T |
A |
6: 30,449,499 (GRCm39) |
I327N |
probably damaging |
Het |
| Lama2 |
C |
T |
10: 27,204,181 (GRCm39) |
E486K |
possibly damaging |
Het |
| Lhx6 |
A |
T |
2: 35,981,145 (GRCm39) |
W266R |
probably benign |
Het |
| Mettl15 |
A |
T |
2: 109,104,810 (GRCm39) |
L65* |
probably null |
Het |
| Mocos |
A |
G |
18: 24,812,594 (GRCm39) |
Q496R |
probably benign |
Het |
| Neb |
T |
C |
2: 52,203,847 (GRCm39) |
S285G |
probably damaging |
Het |
| Nos3 |
A |
G |
5: 24,582,611 (GRCm39) |
N613S |
probably benign |
Het |
| Nphs2 |
G |
A |
1: 156,138,386 (GRCm39) |
R10Q |
probably benign |
Het |
| Or2ag16 |
A |
G |
7: 106,352,430 (GRCm39) |
L55P |
probably damaging |
Het |
| Or4x13 |
C |
A |
2: 90,231,716 (GRCm39) |
T237N |
probably damaging |
Het |
| Or51i2 |
A |
T |
7: 103,689,875 (GRCm39) |
I291F |
possibly damaging |
Het |
| Osbpl10 |
T |
C |
9: 114,996,294 (GRCm39) |
C119R |
probably damaging |
Het |
| Otop1 |
T |
C |
5: 38,445,274 (GRCm39) |
V144A |
probably benign |
Het |
| Ovca2 |
A |
G |
11: 75,068,862 (GRCm39) |
V179A |
possibly damaging |
Het |
| Pcdha11 |
A |
G |
18: 37,140,527 (GRCm39) |
T719A |
probably benign |
Het |
| Pcdhga1 |
A |
G |
18: 37,973,084 (GRCm39) |
N900D |
probably damaging |
Het |
| Pcdhga8 |
A |
T |
18: 37,859,163 (GRCm39) |
Q73L |
probably damaging |
Het |
| Pclo |
A |
G |
5: 14,590,204 (GRCm39) |
K835E |
unknown |
Het |
| Psmd2 |
T |
A |
16: 20,473,412 (GRCm39) |
Y158N |
probably damaging |
Het |
| Pygl |
A |
G |
12: 70,243,822 (GRCm39) |
V631A |
probably damaging |
Het |
| Rhoq |
A |
T |
17: 87,304,405 (GRCm39) |
I179F |
|
Het |
| Rnf26rt |
T |
C |
6: 76,473,566 (GRCm39) |
D350G |
probably benign |
Het |
| Rps6kb1 |
T |
C |
11: 86,404,381 (GRCm39) |
I257M |
probably damaging |
Het |
| Sall3 |
G |
A |
18: 81,017,124 (GRCm39) |
A268V |
probably benign |
Het |
| Serinc4 |
G |
A |
2: 121,287,250 (GRCm39) |
|
probably benign |
Het |
| Slc27a2 |
T |
A |
2: 126,429,807 (GRCm39) |
M605K |
probably damaging |
Het |
| Slc5a7 |
T |
C |
17: 54,594,389 (GRCm39) |
I197M |
probably benign |
Het |
| Slc6a7 |
A |
G |
18: 61,133,649 (GRCm39) |
Y516H |
probably damaging |
Het |
| Spag16 |
A |
G |
1: 69,963,007 (GRCm39) |
T385A |
unknown |
Het |
| Stat6 |
G |
A |
10: 127,493,479 (GRCm39) |
R600H |
probably damaging |
Het |
| Stk32b |
A |
G |
5: 37,786,344 (GRCm39) |
V40A |
probably damaging |
Het |
| Sv2c |
T |
A |
13: 96,224,755 (GRCm39) |
I185L |
probably benign |
Het |
| Syne2 |
T |
A |
12: 76,156,703 (GRCm39) |
L2115H |
probably damaging |
Het |
| Tas2r121 |
T |
C |
6: 132,677,492 (GRCm39) |
E160G |
probably benign |
Het |
| Tle1 |
G |
T |
4: 72,036,753 (GRCm39) |
T727K |
probably benign |
Het |
| Tmem79 |
A |
T |
3: 88,240,764 (GRCm39) |
D61E |
probably benign |
Het |
| Tnrc18 |
C |
A |
5: 142,773,602 (GRCm39) |
R409L |
|
Het |
| Tnrc6a |
C |
A |
7: 122,789,176 (GRCm39) |
P1665Q |
probably damaging |
Het |
| Tns2 |
C |
A |
15: 102,021,416 (GRCm39) |
P1027Q |
probably damaging |
Het |
| Trav7-5 |
C |
G |
14: 53,768,615 (GRCm39) |
A61G |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,745,255 (GRCm39) |
S5265P |
possibly damaging |
Het |
| Tuba1c |
T |
A |
15: 98,935,737 (GRCm39) |
Y399* |
probably null |
Het |
| Vav2 |
A |
T |
2: 27,172,394 (GRCm39) |
I504N |
probably damaging |
Het |
| Vmn2r5 |
G |
T |
3: 64,398,938 (GRCm39) |
C680* |
probably null |
Het |
| Zfp644 |
G |
C |
5: 106,785,829 (GRCm39) |
S239R |
probably benign |
Het |
| Zfp954 |
C |
T |
7: 7,118,933 (GRCm39) |
G204S |
probably damaging |
Het |
| Zswim8 |
C |
T |
14: 20,769,588 (GRCm39) |
T1265I |
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 |
|
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 |
|
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'- AGCTTCCTTTGTCTGTGAGAGTAAG -3'
(R):5'- ACACAGTGTAGACGCCTCAC -3'
Sequencing Primer
(F):5'- TGGGCTCCAGGTCAGTCAG -3'
(R):5'- TGTAGACGCCTCACACAGTGTAG -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation