Incidental Mutation 'IGL00742:Eefsec'
| ID |
10446 |
| 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: 0.908)
|
| Stock # |
IGL00742
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
88234318-88423489 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 88353261 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 136
(L136Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144824
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000165242]
[ENSMUST00000203213]
[ENSMUST00000203886]
[ENSMUST00000204459]
[ENSMUST00000205014]
[ENSMUST00000205179]
|
| AlphaFold |
Q9JHW4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000165242
AA Change: L136Q
PolyPhen 2
Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000131207
Gene: ENSMUSG00000033216
AA Change: L136Q
| 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 |
possibly damaging
Transcript: ENSMUST00000203213
AA Change: L38Q
PolyPhen 2
Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000145480
Gene: ENSMUSG00000033216
AA Change: L38Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GTP_EFTU
|
1 |
157 |
1.4e-6 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000203886
AA Change: L38Q
PolyPhen 2
Score 0.824 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000145017
Gene: ENSMUSG00000033216
AA Change: L38Q
| 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 |
possibly damaging
Transcript: ENSMUST00000204459
AA Change: L136Q
PolyPhen 2
Score 0.824 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000144824
Gene: ENSMUSG00000033216
AA Change: L136Q
| 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 |
possibly damaging
Transcript: ENSMUST00000205179
AA Change: L136Q
PolyPhen 2
Score 0.692 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000144839
Gene: ENSMUSG00000033216
AA Change: L136Q
| 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 |
|---|
| Adck5 |
G |
T |
15: 76,473,300 (GRCm39) |
A50S |
possibly damaging |
Het |
| Adgrg2 |
C |
T |
X: 159,271,715 (GRCm39) |
T778M |
probably damaging |
Het |
| Aimp1 |
G |
A |
3: 132,377,742 (GRCm39) |
Q208* |
probably null |
Het |
| Auh |
T |
C |
13: 52,992,138 (GRCm39) |
E210G |
probably damaging |
Het |
| Cdh20 |
T |
G |
1: 109,993,356 (GRCm39) |
N270K |
probably benign |
Het |
| Chrna9 |
A |
G |
5: 66,128,458 (GRCm39) |
E218G |
probably benign |
Het |
| Cntn5 |
G |
T |
9: 9,976,302 (GRCm39) |
T214K |
probably damaging |
Het |
| Col11a1 |
A |
T |
3: 113,917,964 (GRCm39) |
D766V |
unknown |
Het |
| Ddb1 |
A |
G |
19: 10,588,124 (GRCm39) |
N203S |
probably benign |
Het |
| Hdac6 |
T |
C |
X: 7,797,568 (GRCm39) |
D1019G |
probably benign |
Het |
| Ift88 |
T |
A |
14: 57,718,843 (GRCm39) |
|
probably benign |
Het |
| Igf1r |
T |
A |
7: 67,839,771 (GRCm39) |
C693S |
probably benign |
Het |
| Il18r1 |
T |
A |
1: 40,520,151 (GRCm39) |
S181T |
probably benign |
Het |
| Krt35 |
T |
C |
11: 99,984,785 (GRCm39) |
Q291R |
probably damaging |
Het |
| Krt81 |
G |
A |
15: 101,358,159 (GRCm39) |
R365C |
probably benign |
Het |
| Lpgat1 |
A |
G |
1: 191,492,321 (GRCm39) |
E269G |
probably benign |
Het |
| Lpin3 |
A |
G |
2: 160,735,918 (GRCm39) |
D66G |
probably damaging |
Het |
| Map9 |
T |
C |
3: 82,270,727 (GRCm39) |
V97A |
probably benign |
Het |
| Mcm3ap |
A |
G |
10: 76,328,769 (GRCm39) |
E1129G |
probably damaging |
Het |
| Mmrn1 |
A |
T |
6: 60,935,104 (GRCm39) |
H200L |
probably damaging |
Het |
| Mycbp2 |
A |
G |
14: 103,438,788 (GRCm39) |
L2031S |
probably damaging |
Het |
| Nfatc1 |
C |
T |
18: 80,741,229 (GRCm39) |
R243H |
probably benign |
Het |
| Omg |
T |
A |
11: 79,394,739 (GRCm39) |
|
probably benign |
Het |
| Or51ah3 |
A |
T |
7: 103,210,563 (GRCm39) |
Y293F |
probably damaging |
Het |
| Postn |
T |
A |
3: 54,280,315 (GRCm39) |
N413K |
possibly damaging |
Het |
| Ppp1r3a |
T |
C |
6: 14,718,608 (GRCm39) |
T769A |
probably benign |
Het |
| Pvr |
G |
A |
7: 19,648,784 (GRCm39) |
P244S |
probably damaging |
Het |
| Rabl6 |
T |
C |
2: 25,478,699 (GRCm39) |
E244G |
probably damaging |
Het |
| Satb2 |
A |
T |
1: 56,870,700 (GRCm39) |
N428K |
possibly damaging |
Het |
| Svopl |
A |
G |
6: 38,007,952 (GRCm39) |
|
probably null |
Het |
| Synpo2 |
G |
T |
3: 122,907,525 (GRCm39) |
P597Q |
probably damaging |
Het |
| Tacc3 |
T |
A |
5: 33,818,578 (GRCm39) |
H4Q |
possibly damaging |
Het |
| Ugt2b5 |
C |
T |
5: 87,275,673 (GRCm39) |
G393S |
probably damaging |
Het |
| Vmn2r5 |
A |
G |
3: 64,398,834 (GRCm39) |
I715T |
possibly damaging |
Het |
|
| Other mutations in Eefsec |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
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 |
2012-12-06 |
Incidental Mutation