Incidental Mutation 'R4036:Eef2kmt'
| ID |
313728 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eef2kmt
|
| Ensembl Gene |
ENSMUSG00000022544 |
| Gene Name |
eukaryotic elongation factor 2 lysine methyltransferase |
| Synonyms |
Fam86, 5730409G15Rik |
| MMRRC Submission |
040963-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4036 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
5062019-5073820 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 5063135 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 335
(V335D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000068003
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049207]
[ENSMUST00000064635]
[ENSMUST00000100196]
[ENSMUST00000139584]
|
| AlphaFold |
Q3UZW7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000049207
|
| SMART Domains |
Protein: ENSMUSP00000046534
Gene: ENSMUSG00000039427
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
5 |
23 |
N/A |
INTRINSIC |
|
Pfam:Glycos_transf_1
|
246 |
422 |
8e-14 |
PFAM |
|
Pfam:Glyco_trans_1_4
|
250 |
400 |
1.4e-24 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000064635
AA Change: V335D
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000068003
Gene: ENSMUSG00000022544
AA Change: V335D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FAM86
|
6 |
99 |
2.7e-42 |
PFAM |
|
Pfam:Methyltransf_16
|
119 |
299 |
2.9e-24 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000100196
|
| SMART Domains |
Protein: ENSMUSP00000097770
Gene: ENSMUSG00000039427
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
5 |
23 |
N/A |
INTRINSIC |
|
Pfam:Glycos_transf_1
|
270 |
447 |
2.4e-13 |
PFAM |
|
Pfam:Glyco_trans_1_4
|
276 |
426 |
1.5e-24 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129729
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132225
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139584
|
| SMART Domains |
Protein: ENSMUSP00000123572
Gene: ENSMUSG00000022544
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FAM86
|
1 |
100 |
2.7e-62 |
PFAM |
|
Pfam:Methyltransf_16
|
119 |
299 |
2e-23 |
PFAM |
|
low complexity region
|
311 |
322 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140718
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147530
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142902
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230238
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 93.4%
|
| Validation Efficiency |
100% (33/33) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930544M13Rik |
T |
C |
13: 114,744,205 (GRCm39) |
|
noncoding transcript |
Het |
| Ahctf1 |
T |
C |
1: 179,590,181 (GRCm39) |
Q1364R |
possibly damaging |
Het |
| Anxa2 |
A |
G |
9: 69,395,352 (GRCm39) |
N265S |
probably damaging |
Het |
| Bcan |
A |
G |
3: 87,903,423 (GRCm39) |
|
probably null |
Het |
| Cntln |
A |
G |
4: 84,924,725 (GRCm39) |
Y610C |
probably damaging |
Het |
| Cyp39a1 |
C |
A |
17: 43,987,831 (GRCm39) |
A99E |
probably damaging |
Het |
| Drc1 |
A |
G |
5: 30,504,526 (GRCm39) |
I223V |
probably benign |
Het |
| Fanci |
T |
C |
7: 79,094,570 (GRCm39) |
L1167P |
probably damaging |
Het |
| Glb1l3 |
A |
C |
9: 26,740,343 (GRCm39) |
M329R |
probably damaging |
Het |
| Gns |
C |
A |
10: 121,207,095 (GRCm39) |
T72N |
probably damaging |
Het |
| Hspa2 |
T |
C |
12: 76,452,542 (GRCm39) |
V412A |
probably damaging |
Het |
| Klk1b8 |
A |
G |
7: 43,447,511 (GRCm39) |
I9V |
probably null |
Het |
| Map4 |
A |
G |
9: 109,861,283 (GRCm39) |
T216A |
possibly damaging |
Het |
| Metrn |
T |
C |
17: 26,013,984 (GRCm39) |
T281A |
probably benign |
Het |
| Mid1-ps1 |
G |
A |
Y: 90,773,563 (GRCm39) |
|
noncoding transcript |
Het |
| Ndc1 |
G |
A |
4: 107,268,269 (GRCm39) |
D602N |
probably benign |
Het |
| Nsd1 |
A |
G |
13: 55,361,524 (GRCm39) |
D164G |
possibly damaging |
Het |
| Or5ac22 |
T |
A |
16: 59,135,113 (GRCm39) |
H219L |
probably benign |
Het |
| Pcdha8 |
T |
C |
18: 37,125,914 (GRCm39) |
M132T |
probably benign |
Het |
| Pomt2 |
A |
G |
12: 87,158,296 (GRCm39) |
|
probably null |
Het |
| Prrt3 |
AGGGGG |
AGGGG |
6: 113,474,641 (GRCm39) |
|
probably null |
Het |
| Rfx6 |
T |
A |
10: 51,602,842 (GRCm39) |
H786Q |
probably damaging |
Het |
| Scn4a |
A |
C |
11: 106,212,883 (GRCm39) |
L1374R |
possibly damaging |
Het |
| Slc16a9 |
C |
T |
10: 70,110,786 (GRCm39) |
T124M |
probably damaging |
Het |
| Slc46a2 |
A |
T |
4: 59,913,818 (GRCm39) |
F368L |
probably damaging |
Het |
| St18 |
T |
A |
1: 6,898,010 (GRCm39) |
I604K |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,548,497 (GRCm39) |
V31935A |
possibly damaging |
Het |
| Urb1 |
T |
C |
16: 90,584,974 (GRCm39) |
H549R |
probably benign |
Het |
| Vmn1r219 |
A |
G |
13: 23,347,272 (GRCm39) |
M154V |
probably benign |
Het |
| Zfp575 |
G |
A |
7: 24,285,440 (GRCm39) |
S67L |
possibly damaging |
Het |
|
| Other mutations in Eef2kmt |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R2259:Eef2kmt
|
UTSW |
16 |
5,063,172 (GRCm39) |
missense |
probably benign |
0.30 |
|
R2267:Eef2kmt
|
UTSW |
16 |
5,073,804 (GRCm39) |
start gained |
probably benign |
|
|
R4037:Eef2kmt
|
UTSW |
16 |
5,063,135 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4038:Eef2kmt
|
UTSW |
16 |
5,063,135 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4088:Eef2kmt
|
UTSW |
16 |
5,070,899 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4836:Eef2kmt
|
UTSW |
16 |
5,066,867 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4974:Eef2kmt
|
UTSW |
16 |
5,066,876 (GRCm39) |
missense |
probably benign |
0.14 |
|
R5023:Eef2kmt
|
UTSW |
16 |
5,065,463 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5282:Eef2kmt
|
UTSW |
16 |
5,063,222 (GRCm39) |
missense |
probably benign |
0.27 |
|
R5444:Eef2kmt
|
UTSW |
16 |
5,066,959 (GRCm39) |
intron |
probably benign |
|
|
R5635:Eef2kmt
|
UTSW |
16 |
5,066,893 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6616:Eef2kmt
|
UTSW |
16 |
5,065,346 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7320:Eef2kmt
|
UTSW |
16 |
5,068,373 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7343:Eef2kmt
|
UTSW |
16 |
5,065,299 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9613:Eef2kmt
|
UTSW |
16 |
5,067,272 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAACAGAAGCCTTTCCGC -3'
(R):5'- CTGTGGCCAAGCAAATCAGC -3'
Sequencing Primer
(F):5'- GCTTTCCGCTTTCCCATGACAG -3'
(R):5'- GCAAATCAGCTTGAACACACAG -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation