Incidental Mutation 'R4037:Eef2kmt'
ID |
313771 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Eef2kmt
|
Ensembl Gene |
ENSMUSG00000022544 |
Gene Name |
eukaryotic elongation factor 2 lysine methyltransferase |
Synonyms |
Fam86, 5730409G15Rik |
MMRRC Submission |
040964-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4037 (G1)
|
Quality Score |
165 |
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: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.5%
|
Validation Efficiency |
93% (37/40) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy8 |
A |
G |
15: 64,597,319 (GRCm39) |
F881L |
probably benign |
Het |
Capn6 |
A |
G |
X: 142,590,859 (GRCm39) |
W291R |
probably damaging |
Het |
Cdc27 |
T |
C |
11: 104,398,033 (GRCm39) |
I776V |
probably damaging |
Het |
Cpne5 |
C |
T |
17: 29,378,087 (GRCm39) |
R564H |
unknown |
Het |
Crnkl1 |
T |
A |
2: 145,774,247 (GRCm39) |
D72V |
possibly damaging |
Het |
Dcc |
A |
G |
18: 72,483,468 (GRCm39) |
L17P |
possibly damaging |
Het |
Dhcr24 |
T |
C |
4: 106,431,075 (GRCm39) |
F255L |
probably benign |
Het |
Efcc1 |
C |
T |
6: 87,708,490 (GRCm39) |
Q206* |
probably null |
Het |
Glb1l3 |
A |
C |
9: 26,740,343 (GRCm39) |
M329R |
probably damaging |
Het |
Gpr137c |
C |
A |
14: 45,457,687 (GRCm39) |
L80I |
probably damaging |
Het |
Hcls1 |
A |
G |
16: 36,776,987 (GRCm39) |
T226A |
possibly damaging |
Het |
Hmcn1 |
T |
A |
1: 150,648,253 (GRCm39) |
T678S |
probably benign |
Het |
Hspa2 |
T |
C |
12: 76,452,542 (GRCm39) |
V412A |
probably damaging |
Het |
Hspb8 |
A |
G |
5: 116,547,403 (GRCm39) |
V193A |
probably benign |
Het |
Man1c1 |
C |
T |
4: 134,320,650 (GRCm39) |
D217N |
probably damaging |
Het |
Metrn |
T |
C |
17: 26,013,984 (GRCm39) |
T281A |
probably benign |
Het |
Mmachc |
T |
A |
4: 116,563,215 (GRCm39) |
T47S |
probably damaging |
Het |
Ncoa6 |
G |
A |
2: 155,249,290 (GRCm39) |
S1338L |
probably damaging |
Het |
Ogfrl1 |
T |
C |
1: 23,418,045 (GRCm39) |
|
probably benign |
Het |
Or4a73 |
C |
T |
2: 89,421,379 (GRCm39) |
V27I |
probably benign |
Het |
Or4c113 |
A |
G |
2: 88,885,032 (GRCm39) |
V246A |
probably damaging |
Het |
Pax4 |
A |
G |
6: 28,443,882 (GRCm39) |
I241T |
probably benign |
Het |
Prkaa2 |
T |
C |
4: 104,908,444 (GRCm39) |
N144D |
probably damaging |
Het |
Rims1 |
T |
C |
1: 22,514,793 (GRCm39) |
S537G |
probably damaging |
Het |
Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
Ruvbl1 |
T |
A |
6: 88,450,117 (GRCm39) |
M96K |
probably damaging |
Het |
Sdk2 |
T |
C |
11: 113,685,881 (GRCm39) |
I1880V |
probably damaging |
Het |
Sis |
T |
C |
3: 72,835,935 (GRCm39) |
N885D |
probably benign |
Het |
Skint5 |
G |
T |
4: 113,743,011 (GRCm39) |
T352K |
unknown |
Het |
Slc16a10 |
G |
C |
10: 39,932,620 (GRCm39) |
H314D |
possibly damaging |
Het |
Slc36a2 |
T |
C |
11: 55,055,101 (GRCm39) |
D318G |
probably benign |
Het |
Slc38a4 |
G |
A |
15: 96,894,923 (GRCm39) |
A531V |
probably benign |
Het |
Stat3 |
C |
T |
11: 100,783,951 (GRCm39) |
G658R |
probably damaging |
Het |
Tnfrsf11a |
A |
G |
1: 105,755,464 (GRCm39) |
|
probably null |
Het |
Tnk2 |
G |
T |
16: 32,489,614 (GRCm39) |
A298S |
probably damaging |
Het |
Vmn1r218 |
T |
C |
13: 23,320,971 (GRCm39) |
V26A |
possibly damaging |
Het |
Wipf3 |
G |
A |
6: 54,458,813 (GRCm39) |
G56D |
probably 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 |
|
R4036: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'- TGTGGCCAAGCAAATCAGC -3'
Sequencing Primer
(F):5'- GCTTTCCGCTTTCCCATGACAG -3'
(R):5'- GCAAATCAGCTTGAACACACAG -3'
|
Posted On |
2015-04-30 |