Incidental Mutation 'R6903:Eefsec'
| ID |
538636 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eefsec
|
| Ensembl Gene |
ENSMUSG00000033216 |
| Gene Name |
eukaryotic elongation factor, selenocysteine-tRNA-specific |
| Synonyms |
|
| MMRRC Submission |
044996-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.907)
|
| Stock # |
R6903 (G1)
|
| Quality Score |
210.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
88234318-88423489 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 88423265 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 66
(G66D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144839
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000165242]
[ENSMUST00000203213]
[ENSMUST00000204459]
[ENSMUST00000205014]
[ENSMUST00000205179]
|
| AlphaFold |
Q9JHW4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165242
AA Change: G66D
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000131207
Gene: ENSMUSG00000033216
AA Change: G66D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GTP_EFTU
|
5 |
284 |
1.7e-27 |
PFAM |
|
Pfam:SRPRB
|
6 |
161 |
9e-7 |
PFAM |
|
Pfam:MMR_HSR1
|
9 |
133 |
6.2e-6 |
PFAM |
|
Pfam:GTP_EFTU_D2
|
224 |
290 |
4.7e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203213
|
| SMART Domains |
Protein: ENSMUSP00000145480
Gene: ENSMUSG00000033216
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GTP_EFTU
|
1 |
157 |
1.4e-6 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204459
AA Change: G66D
PolyPhen 2
Score 0.194 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000144824
Gene: ENSMUSG00000033216
AA Change: G66D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GTP_EFTU
|
5 |
203 |
1.5e-26 |
PFAM |
|
Pfam:SRPRB
|
6 |
161 |
1.8e-5 |
PFAM |
|
Pfam:MMR_HSR1
|
9 |
133 |
2.4e-5 |
PFAM |
|
Pfam:cobW
|
74 |
161 |
1.3e-4 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205014
AA Change: G66D
PolyPhen 2
Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000145448
Gene: ENSMUSG00000033216
AA Change: G66D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GTP_EFTU
|
5 |
93 |
2.4e-11 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205179
AA Change: G66D
PolyPhen 2
Score 0.447 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000144839
Gene: ENSMUSG00000033216
AA Change: G66D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GTP_EFTU
|
5 |
285 |
6e-26 |
PFAM |
|
Pfam:SRPRB
|
6 |
161 |
8e-5 |
PFAM |
|
Pfam:MMR_HSR1
|
9 |
133 |
1e-4 |
PFAM |
|
Pfam:GTP_EFTU_D2
|
224 |
290 |
3.3e-7 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.1%
- 20x: 97.3%
|
| Validation Efficiency |
100% (46/46) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca1 |
A |
T |
4: 53,143,952 (GRCm39) |
L15Q |
probably benign |
Het |
| Acsf2 |
T |
C |
11: 94,450,417 (GRCm39) |
M497V |
probably benign |
Het |
| Adnp2 |
T |
C |
18: 80,173,305 (GRCm39) |
N368S |
probably benign |
Het |
| BC034090 |
T |
C |
1: 155,097,131 (GRCm39) |
T656A |
probably benign |
Het |
| Bsph1 |
A |
G |
7: 13,192,183 (GRCm39) |
Y26C |
probably damaging |
Het |
| Cct7 |
T |
C |
6: 85,443,675 (GRCm39) |
F306L |
probably benign |
Het |
| Cd109 |
A |
G |
9: 78,543,885 (GRCm39) |
Q143R |
probably damaging |
Het |
| Cfap46 |
A |
T |
7: 139,234,477 (GRCm39) |
|
probably null |
Het |
| Col3a1 |
A |
G |
1: 45,371,148 (GRCm39) |
N436D |
probably damaging |
Het |
| Col6a3 |
T |
C |
1: 90,721,929 (GRCm39) |
E1498G |
probably damaging |
Het |
| Cyp2u1 |
T |
C |
3: 131,096,424 (GRCm39) |
D118G |
probably benign |
Het |
| Dek |
A |
G |
13: 47,251,663 (GRCm39) |
S51P |
possibly damaging |
Het |
| Dock6 |
C |
T |
9: 21,720,860 (GRCm39) |
G1746D |
probably damaging |
Het |
| Dscam |
T |
A |
16: 96,621,988 (GRCm39) |
N488Y |
probably damaging |
Het |
| Ebpl |
G |
T |
14: 61,597,693 (GRCm39) |
Y49* |
probably null |
Het |
| Epha6 |
T |
A |
16: 60,346,825 (GRCm39) |
Y146F |
probably benign |
Het |
| Fcgbpl1 |
C |
T |
7: 27,836,638 (GRCm39) |
R186C |
probably damaging |
Het |
| Frmd4a |
A |
G |
2: 4,591,267 (GRCm39) |
R96G |
probably damaging |
Het |
| Gm5814 |
A |
G |
17: 47,721,352 (GRCm39) |
|
probably benign |
Het |
| Hspa13 |
C |
G |
16: 75,554,872 (GRCm39) |
V405L |
probably damaging |
Het |
| Iqgap2 |
A |
G |
13: 95,797,565 (GRCm39) |
V1079A |
probably damaging |
Het |
| Kcnj9 |
C |
A |
1: 172,153,623 (GRCm39) |
R167L |
probably damaging |
Het |
| Kdm1b |
T |
A |
13: 47,227,880 (GRCm39) |
D620E |
probably benign |
Het |
| Kif23 |
T |
C |
9: 61,834,436 (GRCm39) |
R442G |
possibly damaging |
Het |
| Nectin1 |
C |
A |
9: 43,703,179 (GRCm39) |
P146T |
possibly damaging |
Het |
| Noc4l |
A |
G |
5: 110,797,461 (GRCm39) |
I391T |
probably damaging |
Het |
| Npr1 |
C |
A |
3: 90,362,452 (GRCm39) |
R956L |
possibly damaging |
Het |
| Or11g7 |
T |
A |
14: 50,691,412 (GRCm39) |
M301K |
possibly damaging |
Het |
| Or11j4 |
T |
A |
14: 50,631,089 (GRCm39) |
M292K |
possibly damaging |
Het |
| Pcdhgb2 |
T |
C |
18: 37,825,223 (GRCm39) |
V738A |
possibly damaging |
Het |
| Ptpn20 |
A |
G |
14: 33,336,461 (GRCm39) |
E100G |
probably damaging |
Het |
| Rgs10 |
A |
G |
7: 127,990,797 (GRCm39) |
F97S |
probably damaging |
Het |
| Shisa6 |
T |
C |
11: 66,265,982 (GRCm39) |
|
probably null |
Het |
| Shld1 |
A |
T |
2: 132,592,564 (GRCm39) |
K204* |
probably null |
Het |
| Sirpb1a |
T |
C |
3: 15,481,984 (GRCm39) |
T115A |
probably damaging |
Het |
| Supv3l1 |
A |
G |
10: 62,277,016 (GRCm39) |
C251R |
probably damaging |
Het |
| Svopl |
T |
C |
6: 37,998,543 (GRCm39) |
S244G |
probably benign |
Het |
| Tes |
T |
C |
6: 17,099,862 (GRCm39) |
Y286H |
probably damaging |
Het |
| Tnfrsf22 |
G |
A |
7: 143,193,641 (GRCm39) |
|
probably benign |
Het |
| Vmn1r185 |
A |
G |
7: 26,311,160 (GRCm39) |
I115T |
probably damaging |
Het |
| Vmn2r-ps117 |
A |
G |
17: 19,058,552 (GRCm39) |
T703A |
possibly damaging |
Het |
| Zan |
T |
A |
5: 137,454,566 (GRCm39) |
I1413L |
unknown |
Het |
| Zc3h12d |
G |
T |
10: 7,743,425 (GRCm39) |
M398I |
probably benign |
Het |
| Zfp219 |
G |
A |
14: 52,244,118 (GRCm39) |
T642M |
probably benign |
Het |
| Zfp646 |
G |
A |
7: 127,479,892 (GRCm39) |
E690K |
possibly damaging |
Het |
| Zfr |
T |
A |
15: 12,136,541 (GRCm39) |
V66D |
unknown |
Het |
|
| Other mutations in Eefsec |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00742:Eefsec
|
APN |
6 |
88,353,261 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL02055:Eefsec
|
APN |
6 |
88,353,385 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03068:Eefsec
|
APN |
6 |
88,235,209 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03235:Eefsec
|
APN |
6 |
88,353,357 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0137:Eefsec
|
UTSW |
6 |
88,274,631 (GRCm39) |
missense |
probably benign |
0.17 |
|
R0384:Eefsec
|
UTSW |
6 |
88,258,632 (GRCm39) |
splice site |
probably null |
|
|
R0456:Eefsec
|
UTSW |
6 |
88,274,870 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0571:Eefsec
|
UTSW |
6 |
88,274,881 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1051:Eefsec
|
UTSW |
6 |
88,274,829 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1464:Eefsec
|
UTSW |
6 |
88,353,182 (GRCm39) |
splice site |
probably benign |
|
|
R1552:Eefsec
|
UTSW |
6 |
88,353,182 (GRCm39) |
splice site |
probably benign |
|
|
R1739:Eefsec
|
UTSW |
6 |
88,353,187 (GRCm39) |
nonsense |
probably null |
|
|
R2887:Eefsec
|
UTSW |
6 |
88,235,341 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3944:Eefsec
|
UTSW |
6 |
88,275,076 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4027:Eefsec
|
UTSW |
6 |
88,353,232 (GRCm39) |
missense |
probably benign |
0.22 |
|
R5113:Eefsec
|
UTSW |
6 |
88,258,557 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5924:Eefsec
|
UTSW |
6 |
88,332,529 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6062:Eefsec
|
UTSW |
6 |
88,332,611 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6233:Eefsec
|
UTSW |
6 |
88,335,526 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6484:Eefsec
|
UTSW |
6 |
88,274,770 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6524:Eefsec
|
UTSW |
6 |
88,274,902 (GRCm39) |
splice site |
probably null |
|
|
R7614:Eefsec
|
UTSW |
6 |
88,258,576 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R7733:Eefsec
|
UTSW |
6 |
88,353,202 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R8110:Eefsec
|
UTSW |
6 |
88,353,312 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8850:Eefsec
|
UTSW |
6 |
88,423,253 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R9251:Eefsec
|
UTSW |
6 |
88,332,574 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9453:Eefsec
|
UTSW |
6 |
88,353,337 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9618:Eefsec
|
UTSW |
6 |
88,274,681 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGTGAAGGTGAGAACTGTGTC -3'
(R):5'- AAATGTGAATGTGGGCGTGC -3'
Sequencing Primer
(F):5'- CTGTGAGTTCGAGACCACAAGC -3'
(R):5'- GTGCTGGGTCACATCGAC -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation