Incidental Mutation 'IGL02055:Eefsec'
| ID |
185211 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Eefsec
|
| Ensembl Gene |
ENSMUSG00000033216 |
| Gene Name |
eukaryotic elongation factor, selenocysteine-tRNA-specific |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.907)
|
| Stock # |
IGL02055
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
88234318-88423489 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 88353385 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 95
(I95V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144824
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000165242]
[ENSMUST00000203213]
[ENSMUST00000203886]
[ENSMUST00000204459]
[ENSMUST00000205014]
[ENSMUST00000205179]
|
| AlphaFold |
Q9JHW4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000165242
AA Change: I95V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000131207
Gene: ENSMUSG00000033216
AA Change: I95V
| 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: ENSMUST00000203886
|
| SMART Domains |
Protein: ENSMUSP00000145017
Gene: ENSMUSG00000033216
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GTP_EFTU
|
1 |
205 |
1e-6 |
PFAM |
|
Pfam:GTP_EFTU_D2
|
126 |
192 |
1e-7 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000204459
AA Change: I95V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144824
Gene: ENSMUSG00000033216
AA Change: I95V
| 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
|
| SMART Domains |
Protein: ENSMUSP00000145448
Gene: ENSMUSG00000033216
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GTP_EFTU
|
5 |
93 |
2.4e-11 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000205179
AA Change: I95V
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000144839
Gene: ENSMUSG00000033216
AA Change: I95V
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap1b1 |
T |
A |
11: 4,974,452 (GRCm39) |
C353* |
probably null |
Het |
| Asl |
C |
T |
5: 130,041,891 (GRCm39) |
G309R |
possibly damaging |
Het |
| B4galnt4 |
T |
C |
7: 140,650,731 (GRCm39) |
F835S |
probably damaging |
Het |
| Bltp2 |
A |
G |
11: 78,177,457 (GRCm39) |
T1921A |
probably damaging |
Het |
| Carmil2 |
A |
G |
8: 106,423,539 (GRCm39) |
|
probably benign |
Het |
| Ccnt2 |
C |
A |
1: 127,719,447 (GRCm39) |
P116T |
possibly damaging |
Het |
| Clcn1 |
T |
G |
6: 42,284,489 (GRCm39) |
M609R |
probably damaging |
Het |
| Csmd1 |
A |
G |
8: 16,119,015 (GRCm39) |
I1858T |
probably damaging |
Het |
| Galk2 |
A |
G |
2: 125,773,324 (GRCm39) |
K252R |
probably benign |
Het |
| Gbp2 |
A |
T |
3: 142,337,991 (GRCm39) |
N369I |
probably benign |
Het |
| Glis2 |
G |
T |
16: 4,431,972 (GRCm39) |
|
probably benign |
Het |
| Igdcc3 |
T |
C |
9: 65,088,562 (GRCm39) |
V388A |
possibly damaging |
Het |
| Klhl1 |
A |
G |
14: 96,517,539 (GRCm39) |
F379S |
possibly damaging |
Het |
| Or5b12 |
T |
A |
19: 12,896,930 (GRCm39) |
I248F |
possibly damaging |
Het |
| Pigm |
C |
T |
1: 172,204,732 (GRCm39) |
S156L |
probably benign |
Het |
| Pikfyve |
T |
C |
1: 65,277,703 (GRCm39) |
|
probably null |
Het |
| Ppp6r3 |
A |
G |
19: 3,571,781 (GRCm39) |
F123L |
probably benign |
Het |
| Pum1 |
C |
A |
4: 130,481,365 (GRCm39) |
S637R |
probably benign |
Het |
| Rp1 |
A |
G |
1: 4,422,745 (GRCm39) |
S112P |
probably damaging |
Het |
| Serpina3k |
A |
T |
12: 104,307,295 (GRCm39) |
K176* |
probably null |
Het |
| Smad4 |
A |
G |
18: 73,774,999 (GRCm39) |
|
probably benign |
Het |
| Tas2r140 |
T |
A |
6: 40,468,493 (GRCm39) |
F108I |
probably damaging |
Het |
| Tbc1d20 |
G |
A |
2: 152,149,978 (GRCm39) |
R73H |
probably damaging |
Het |
| Tmem131l |
T |
C |
3: 83,817,673 (GRCm39) |
|
probably null |
Het |
| Tmem86b |
A |
C |
7: 4,631,762 (GRCm39) |
|
probably benign |
Het |
| Trav6-4 |
G |
A |
14: 53,692,237 (GRCm39) |
V115I |
probably benign |
Het |
| Trim37 |
T |
G |
11: 87,057,475 (GRCm39) |
V303G |
probably benign |
Het |
| Trpc7 |
C |
T |
13: 57,035,357 (GRCm39) |
R192Q |
probably benign |
Het |
| Ush1g |
T |
C |
11: 115,208,925 (GRCm39) |
D423G |
possibly damaging |
Het |
| Veph1 |
T |
A |
3: 66,113,048 (GRCm39) |
D252V |
possibly damaging |
Het |
| Vmn1r181 |
T |
G |
7: 23,683,978 (GRCm39) |
L148V |
probably damaging |
Het |
| Vmn1r42 |
T |
C |
6: 89,822,571 (GRCm39) |
|
probably benign |
Het |
| Vmn2r77 |
T |
A |
7: 86,450,763 (GRCm39) |
H216Q |
probably benign |
Het |
| Zfp39 |
A |
G |
11: 58,782,156 (GRCm39) |
V202A |
probably benign |
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 |
|
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 |
|
|
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 |
|
| Posted On |
2014-05-07 |
Incidental Mutation