Incidental Mutation 'R4038:Eef2kmt'
| ID |
313811 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eef2kmt
|
| Ensembl Gene |
ENSMUSG00000022544 |
| Gene Name |
eukaryotic elongation factor 2 lysine methyltransferase |
| Synonyms |
Fam86, 5730409G15Rik |
| MMRRC Submission |
040965-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4038 (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: 96.7%
- 20x: 93.1%
|
| Validation Efficiency |
93% (39/42) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ate1 |
A |
G |
7: 130,106,495 (GRCm39) |
S282P |
probably damaging |
Het |
| Cacna1d |
T |
A |
14: 29,788,040 (GRCm39) |
Q1610L |
probably damaging |
Het |
| Carmil2 |
C |
A |
8: 106,422,039 (GRCm39) |
R1103S |
probably damaging |
Het |
| Clca3a1 |
T |
A |
3: 144,460,994 (GRCm39) |
Y219F |
probably benign |
Het |
| Creb3l3 |
A |
G |
10: 80,925,172 (GRCm39) |
V224A |
probably benign |
Het |
| Crnkl1 |
T |
A |
2: 145,774,247 (GRCm39) |
D72V |
possibly damaging |
Het |
| Dhcr24 |
T |
C |
4: 106,431,075 (GRCm39) |
F255L |
probably benign |
Het |
| Elp2 |
T |
A |
18: 24,767,405 (GRCm39) |
W696R |
probably damaging |
Het |
| Glb1l3 |
A |
C |
9: 26,740,343 (GRCm39) |
M329R |
probably damaging |
Het |
| Gm4787 |
A |
T |
12: 81,425,132 (GRCm39) |
F342Y |
probably damaging |
Het |
| Gpr137c |
C |
A |
14: 45,457,687 (GRCm39) |
L80I |
probably damaging |
Het |
| Gpr83 |
A |
G |
9: 14,772,073 (GRCm39) |
I82V |
possibly damaging |
Het |
| Greb1l |
C |
T |
18: 10,515,209 (GRCm39) |
T558I |
possibly damaging |
Het |
| Hnrnpul2 |
T |
A |
19: 8,800,591 (GRCm39) |
|
probably benign |
Het |
| Hspa2 |
T |
C |
12: 76,452,542 (GRCm39) |
V412A |
probably damaging |
Het |
| Iqcd |
T |
C |
5: 120,740,587 (GRCm39) |
V306A |
probably damaging |
Het |
| Lmod3 |
T |
C |
6: 97,225,275 (GRCm39) |
N182S |
probably benign |
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 |
| Mmachc |
T |
A |
4: 116,563,215 (GRCm39) |
T47S |
probably damaging |
Het |
| Nfia |
C |
A |
4: 97,909,074 (GRCm39) |
R277S |
probably damaging |
Het |
| Or9m2 |
T |
A |
2: 87,821,262 (GRCm39) |
I269N |
possibly damaging |
Het |
| Pcdha8 |
T |
C |
18: 37,125,914 (GRCm39) |
M132T |
probably benign |
Het |
| Prkaa2 |
T |
C |
4: 104,908,444 (GRCm39) |
N144D |
probably damaging |
Het |
| Ptprf |
C |
T |
4: 118,114,805 (GRCm39) |
R150H |
probably damaging |
Het |
| Sfmbt1 |
T |
G |
14: 30,509,449 (GRCm39) |
D309E |
probably damaging |
Het |
| Skint5 |
G |
T |
4: 113,743,011 (GRCm39) |
T352K |
unknown |
Het |
| Slc16a10 |
G |
C |
10: 39,932,620 (GRCm39) |
H314D |
possibly damaging |
Het |
| Slc28a2 |
C |
A |
2: 122,284,996 (GRCm39) |
A328E |
probably benign |
Het |
| Ssc4d |
C |
A |
5: 135,999,170 (GRCm39) |
W11L |
possibly damaging |
Het |
| Sycp2 |
C |
A |
2: 178,022,720 (GRCm39) |
M470I |
possibly damaging |
Het |
| Tfap2c |
A |
T |
2: 172,398,110 (GRCm39) |
S413C |
probably damaging |
Het |
| Unc13c |
A |
G |
9: 73,441,188 (GRCm39) |
|
probably null |
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 |
| Wiz |
T |
C |
17: 32,578,198 (GRCm39) |
E429G |
probably damaging |
Het |
| Zer1 |
T |
C |
2: 29,997,535 (GRCm39) |
N457S |
probably damaging |
Het |
| Zfp931 |
T |
A |
2: 177,709,777 (GRCm39) |
Q203L |
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 |
|
|
R4036:Eef2kmt
|
UTSW |
16 |
5,063,135 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4037: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 |
Incidental Mutation