Incidental Mutation 'R2887:Eefsec'
| ID |
261080 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eefsec
|
| Ensembl Gene |
ENSMUSG00000033216 |
| Gene Name |
eukaryotic elongation factor, selenocysteine-tRNA-specific |
| Synonyms |
|
| MMRRC Submission |
040475-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.907)
|
| Stock # |
R2887 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
88234318-88423489 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 88235341 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 214
(T214A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145480
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000165242]
[ENSMUST00000203213]
[ENSMUST00000205179]
|
| AlphaFold |
Q9JHW4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165242
AA Change: T532A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000131207
Gene: ENSMUSG00000033216
AA Change: T532A
| 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
AA Change: T214A
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000145480
Gene: ENSMUSG00000033216
AA Change: T214A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GTP_EFTU
|
1 |
157 |
1.4e-6 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203827
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205179
|
| SMART Domains |
Protein: ENSMUSP00000144839
Gene: ENSMUSG00000033216
| 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: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810009A15Rik |
T |
C |
19: 8,867,395 (GRCm39) |
S65P |
probably damaging |
Het |
| Adamts20 |
C |
T |
15: 94,228,459 (GRCm39) |
R996H |
probably benign |
Het |
| Aurka |
A |
G |
2: 172,209,040 (GRCm39) |
S54P |
probably benign |
Het |
| Clec7a |
C |
T |
6: 129,447,960 (GRCm39) |
G35E |
probably damaging |
Het |
| Clock |
G |
A |
5: 76,393,120 (GRCm39) |
R239C |
probably damaging |
Het |
| Emg1 |
T |
C |
6: 124,682,026 (GRCm39) |
H166R |
probably damaging |
Het |
| Fibin |
T |
A |
2: 110,193,122 (GRCm39) |
I7F |
probably benign |
Het |
| Golm1 |
G |
T |
13: 59,788,044 (GRCm39) |
T285K |
probably benign |
Het |
| Ivl |
C |
A |
3: 92,478,699 (GRCm39) |
R455S |
unknown |
Het |
| Lama4 |
A |
C |
10: 38,968,250 (GRCm39) |
Q1464P |
possibly damaging |
Het |
| Lamp1 |
T |
A |
8: 13,223,891 (GRCm39) |
L341H |
probably damaging |
Het |
| Or13a28 |
A |
T |
7: 140,218,138 (GRCm39) |
I175F |
probably damaging |
Het |
| Ppp1r3a |
T |
G |
6: 14,718,248 (GRCm39) |
S889R |
possibly damaging |
Het |
| Ptprc |
A |
G |
1: 138,007,916 (GRCm39) |
V711A |
probably damaging |
Het |
| Rimklb |
T |
C |
6: 122,449,657 (GRCm39) |
T6A |
probably benign |
Het |
| Serpina3c |
T |
C |
12: 104,113,549 (GRCm39) |
H399R |
probably benign |
Het |
| Slc35a5 |
A |
G |
16: 44,971,923 (GRCm39) |
C114R |
probably damaging |
Het |
| Slc7a13 |
A |
G |
4: 19,819,052 (GRCm39) |
Y84C |
possibly damaging |
Het |
| Tcf7l1 |
G |
A |
6: 72,609,071 (GRCm39) |
S297L |
probably damaging |
Het |
| Vmn2r98 |
G |
T |
17: 19,301,439 (GRCm39) |
A814S |
possibly damaging |
Het |
| Zfp14 |
G |
T |
7: 29,738,190 (GRCm39) |
T265K |
probably damaging |
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 |
|
|
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 |
|
|
R6903:Eefsec
|
UTSW |
6 |
88,423,265 (GRCm39) |
missense |
probably benign |
0.45 |
|
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'- CAGGATGGTTCATTCAGGGAG -3'
(R):5'- GGTAGAACAGTGTTCCTAGAGAGC -3'
Sequencing Primer
(F):5'- CATTCAGGGAGTCTGTACCATGC -3'
(R):5'- CCTAGAGAGCATTTGGACCTTAG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation