Incidental Mutation 'R6524:Eefsec'
| ID |
521589 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eefsec
|
| Ensembl Gene |
ENSMUSG00000033216 |
| Gene Name |
eukaryotic elongation factor, selenocysteine-tRNA-specific |
| Synonyms |
|
| MMRRC Submission |
044650-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.908)
|
| Stock # |
R6524 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
88234318-88423489 bp(-) (GRCm39) |
| Type of Mutation |
splice site (3 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 88274902 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145017
(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: D354G
PolyPhen 2
Score 0.561 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000131207
Gene: ENSMUSG00000033216
AA Change: D354G
| 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 null
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 benign
Transcript: ENSMUST00000204459
|
| SMART Domains |
Protein: ENSMUSP00000144824
Gene: ENSMUSG00000033216
| 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 benign
Transcript: ENSMUST00000205179
AA Change: D354G
PolyPhen 2
Score 0.305 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000144839
Gene: ENSMUSG00000033216
AA Change: D354G
| 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: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.3%
|
| Validation Efficiency |
100% (44/44) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933405L10Rik |
A |
G |
8: 106,435,641 (GRCm39) |
R100G |
possibly damaging |
Het |
| Acin1 |
G |
T |
14: 54,882,740 (GRCm39) |
D237E |
probably damaging |
Het |
| Ankfy1 |
G |
A |
11: 72,621,308 (GRCm39) |
R198Q |
possibly damaging |
Het |
| C3 |
A |
T |
17: 57,524,264 (GRCm39) |
|
probably null |
Het |
| Dnaaf2 |
A |
T |
12: 69,237,159 (GRCm39) |
C650S |
probably benign |
Het |
| Dsg2 |
T |
G |
18: 20,716,093 (GRCm39) |
F315V |
probably damaging |
Het |
| Dyrk1a |
C |
T |
16: 94,485,979 (GRCm39) |
S404L |
probably benign |
Het |
| Esco1 |
T |
G |
18: 10,582,188 (GRCm39) |
|
probably null |
Het |
| Fam83a |
T |
C |
15: 57,858,736 (GRCm39) |
|
probably null |
Het |
| Fat3 |
A |
T |
9: 15,903,552 (GRCm39) |
V2981E |
probably damaging |
Het |
| H1f11-ps |
G |
A |
19: 47,158,999 (GRCm39) |
T192M |
unknown |
Het |
| Heatr5b |
A |
G |
17: 79,121,535 (GRCm39) |
L730P |
possibly damaging |
Het |
| Hgsnat |
A |
G |
8: 26,435,260 (GRCm39) |
S625P |
probably damaging |
Het |
| Itpr1 |
C |
T |
6: 108,340,644 (GRCm39) |
T84I |
probably damaging |
Het |
| Itpr2 |
T |
C |
6: 146,246,709 (GRCm39) |
N1070S |
probably benign |
Het |
| Itsn1 |
T |
C |
16: 91,708,883 (GRCm39) |
F276L |
probably damaging |
Het |
| Krt84 |
A |
G |
15: 101,441,187 (GRCm39) |
S2P |
unknown |
Het |
| Lbhd2 |
G |
A |
12: 111,376,724 (GRCm39) |
R57H |
probably damaging |
Het |
| Lcmt2 |
T |
C |
2: 120,969,412 (GRCm39) |
E337G |
possibly damaging |
Het |
| Lrp1b |
T |
C |
2: 40,741,816 (GRCm39) |
E3037G |
possibly damaging |
Het |
| Lrp2 |
T |
C |
2: 69,266,983 (GRCm39) |
E4308G |
possibly damaging |
Het |
| Med13 |
A |
G |
11: 86,192,293 (GRCm39) |
I824T |
probably damaging |
Het |
| Meiob |
G |
A |
17: 25,051,491 (GRCm39) |
V291I |
probably benign |
Het |
| Mtcl1 |
A |
T |
17: 66,655,280 (GRCm39) |
D1343E |
probably benign |
Het |
| Mybl2 |
C |
A |
2: 162,916,450 (GRCm39) |
P367Q |
possibly damaging |
Het |
| Nav3 |
T |
C |
10: 109,555,891 (GRCm39) |
N1680S |
probably damaging |
Het |
| Nif3l1 |
T |
C |
1: 58,496,999 (GRCm39) |
V308A |
probably benign |
Het |
| Or5h23 |
C |
T |
16: 58,906,640 (GRCm39) |
V69M |
possibly damaging |
Het |
| Pclo |
G |
A |
5: 14,768,883 (GRCm39) |
R4366H |
unknown |
Het |
| Phax |
T |
A |
18: 56,720,074 (GRCm39) |
D338E |
probably damaging |
Het |
| Pnpla6 |
T |
A |
8: 3,584,519 (GRCm39) |
|
probably null |
Het |
| Rint1 |
A |
T |
5: 24,020,737 (GRCm39) |
M529L |
probably benign |
Het |
| Scand1 |
C |
T |
2: 156,154,169 (GRCm39) |
|
probably benign |
Het |
| Six3 |
C |
T |
17: 85,929,398 (GRCm39) |
T244I |
probably damaging |
Het |
| Slc4a4 |
T |
C |
5: 89,380,623 (GRCm39) |
S1034P |
probably benign |
Het |
| Ssu72 |
T |
G |
4: 155,799,997 (GRCm39) |
N53K |
probably null |
Het |
| Timm44 |
T |
C |
8: 4,317,988 (GRCm39) |
D140G |
possibly damaging |
Het |
| Tspan8 |
T |
C |
10: 115,679,984 (GRCm39) |
F200L |
probably benign |
Het |
| Tyw5 |
A |
T |
1: 57,427,890 (GRCm39) |
V234D |
possibly damaging |
Het |
| Ubxn10 |
T |
A |
4: 138,448,194 (GRCm39) |
R161* |
probably null |
Het |
| Vmn2r23 |
T |
A |
6: 123,690,384 (GRCm39) |
L420Q |
probably damaging |
Het |
| Wdr1 |
A |
T |
5: 38,687,406 (GRCm39) |
D208E |
probably benign |
Het |
| Yif1a |
A |
G |
19: 5,142,204 (GRCm39) |
Y230C |
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 |
|
|
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 |
|
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'- GTGAATGTCGGCATCTAGTCTG -3'
(R):5'- CGAGTCTCTGCACACTGTTC -3'
Sequencing Primer
(F):5'- GCATCTAGTCTGGAGCCAATC -3'
(R):5'- TGCACACTGTTCACGCAG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation