Incidental Mutation 'R8394:Efl1'
| ID |
647528 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Efl1
|
| Ensembl Gene |
ENSMUSG00000038563 |
| Gene Name |
elongation factor like GPTase 1 |
| Synonyms |
6030468D11Rik, 4932434J20Rik, D7Ertd791e, Eftud1 |
| MMRRC Submission |
067758-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.847)
|
| Stock # |
R8394 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
82648614-82777852 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 82762778 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 792
(I792V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046046
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039881]
[ENSMUST00000179489]
|
| AlphaFold |
Q8C0D5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039881
AA Change: I792V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000046046
Gene: ENSMUSG00000038563
AA Change: I792V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GTP_EFTU
|
17 |
365 |
7.4e-62 |
PFAM |
|
low complexity region
|
435 |
451 |
N/A |
INTRINSIC |
|
Pfam:EFG_II
|
614 |
687 |
4.3e-9 |
PFAM |
|
EFG_C
|
986 |
1075 |
1.03e-12 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000179489
AA Change: I792V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000137061
Gene: ENSMUSG00000038563
AA Change: I792V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GTP_EFTU
|
17 |
364 |
8.7e-58 |
PFAM |
|
low complexity region
|
435 |
451 |
N/A |
INTRINSIC |
|
Pfam:GTP_EFTU_D2
|
504 |
599 |
1e-7 |
PFAM |
|
Pfam:EFG_II
|
614 |
687 |
1.8e-9 |
PFAM |
|
EFG_C
|
986 |
1075 |
1.03e-12 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for an ENU-induced mutation exhibit late-onset and progressive gait abnormalities. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700129C05Rik |
T |
C |
14: 59,142,174 (GRCm38) |
N137S |
probably benign |
Het |
| 4930505A04Rik |
T |
A |
11: 30,454,880 (GRCm38) |
|
probably null |
Het |
| Abcc8 |
A |
G |
7: 46,154,553 (GRCm38) |
I399T |
probably benign |
Het |
| Aldh3b2 |
A |
C |
19: 3,979,461 (GRCm38) |
Q278P |
probably benign |
Het |
| Arl8b |
A |
G |
6: 108,783,283 (GRCm38) |
D10G |
possibly damaging |
Het |
| Baiap3 |
T |
C |
17: 25,250,122 (GRCm38) |
N229S |
probably benign |
Het |
| Chrdl2 |
T |
C |
7: 100,017,085 (GRCm38) |
S71P |
possibly damaging |
Het |
| Cmbl |
A |
G |
15: 31,585,395 (GRCm38) |
M142V |
possibly damaging |
Het |
| Cpt1b |
A |
G |
15: 89,422,287 (GRCm38) |
|
probably null |
Het |
| Crybg3 |
T |
C |
16: 59,558,288 (GRCm38) |
K868E |
probably benign |
Het |
| Evx2 |
A |
G |
2: 74,655,977 (GRCm38) |
L356S |
probably benign |
Het |
| Hspa14 |
C |
T |
2: 3,512,633 (GRCm38) |
|
probably null |
Het |
| Ighv5-8 |
C |
T |
12: 113,655,193 (GRCm38) |
A76V |
unknown |
Het |
| Il7r |
A |
G |
15: 9,516,418 (GRCm38) |
F99S |
probably damaging |
Het |
| Klra2 |
A |
T |
6: 131,245,310 (GRCm38) |
V6D |
possibly damaging |
Het |
| Lce3c |
T |
C |
3: 92,945,453 (GRCm38) |
S74P |
unknown |
Het |
| Nectin2 |
C |
T |
7: 19,733,212 (GRCm38) |
|
probably null |
Het |
| Nfil3 |
A |
G |
13: 52,967,813 (GRCm38) |
S352P |
probably benign |
Het |
| Nme6 |
T |
A |
9: 109,835,326 (GRCm38) |
M1K |
probably null |
Het |
| Olfr618 |
A |
T |
7: 103,598,197 (GRCm38) |
I294F |
probably damaging |
Het |
| Otogl |
A |
G |
10: 107,886,465 (GRCm38) |
|
probably null |
Het |
| Plcb1 |
T |
C |
2: 135,317,790 (GRCm38) |
V391A |
probably damaging |
Het |
| Ptf1a |
T |
A |
2: 19,445,935 (GRCm38) |
D25E |
probably damaging |
Het |
| Ralbp1 |
C |
T |
17: 65,852,753 (GRCm38) |
R505H |
probably benign |
Het |
| Scube1 |
T |
C |
15: 83,608,291 (GRCm38) |
Y944C |
probably damaging |
Het |
| Sdk2 |
A |
G |
11: 113,838,716 (GRCm38) |
I1039T |
probably benign |
Het |
| Senp7 |
G |
T |
16: 56,169,827 (GRCm38) |
W646L |
possibly damaging |
Het |
| Sphkap |
A |
T |
1: 83,276,076 (GRCm38) |
N1317K |
probably benign |
Het |
| Strc |
G |
T |
2: 121,379,009 (GRCm38) |
Q278K |
probably benign |
Het |
| Tbc1d30 |
T |
A |
10: 121,347,108 (GRCm38) |
R142* |
probably null |
Het |
| Tmtc3 |
T |
C |
10: 100,446,946 (GRCm38) |
I916V |
probably damaging |
Het |
| Tomm40l |
A |
T |
1: 171,221,207 (GRCm38) |
H79Q |
probably damaging |
Het |
| Txndc12 |
T |
A |
4: 108,856,223 (GRCm38) |
|
probably null |
Het |
| Vmn2r2 |
T |
C |
3: 64,137,437 (GRCm38) |
N96S |
probably damaging |
Het |
| Vmn2r27 |
T |
C |
6: 124,191,817 (GRCm38) |
T785A |
possibly damaging |
Het |
| Zfp217 |
G |
A |
2: 170,119,651 (GRCm38) |
S252F |
possibly damaging |
Het |
| Zfp462 |
A |
G |
4: 55,011,862 (GRCm38) |
D1276G |
probably damaging |
Het |
|
| Other mutations in Efl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00541:Efl1
|
APN |
7 |
82,658,111 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00696:Efl1
|
APN |
7 |
82,651,872 (GRCm38) |
splice site |
probably benign |
|
|
IGL01344:Efl1
|
APN |
7 |
82,681,480 (GRCm38) |
splice site |
probably benign |
|
|
IGL01871:Efl1
|
APN |
7 |
82,763,319 (GRCm38) |
missense |
possibly damaging |
0.64 |
|
IGL01941:Efl1
|
APN |
7 |
82,697,976 (GRCm38) |
missense |
probably benign |
0.17 |
|
IGL02104:Efl1
|
APN |
7 |
82,658,055 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
IGL02150:Efl1
|
APN |
7 |
82,686,691 (GRCm38) |
missense |
probably benign |
|
|
IGL02484:Efl1
|
APN |
7 |
82,683,039 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL03140:Efl1
|
APN |
7 |
82,692,881 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL03188:Efl1
|
APN |
7 |
82,671,701 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03014:Efl1
|
UTSW |
7 |
82,651,886 (GRCm38) |
missense |
probably damaging |
1.00 |
|
PIT4469001:Efl1
|
UTSW |
7 |
82,658,165 (GRCm38) |
missense |
probably benign |
0.14 |
|
R0148:Efl1
|
UTSW |
7 |
82,671,670 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0226:Efl1
|
UTSW |
7 |
82,693,011 (GRCm38) |
splice site |
probably benign |
|
|
R0638:Efl1
|
UTSW |
7 |
82,651,887 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0684:Efl1
|
UTSW |
7 |
82,651,886 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1018:Efl1
|
UTSW |
7 |
82,763,013 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R1290:Efl1
|
UTSW |
7 |
82,671,728 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1720:Efl1
|
UTSW |
7 |
82,683,721 (GRCm38) |
missense |
possibly damaging |
0.50 |
|
R1933:Efl1
|
UTSW |
7 |
82,763,117 (GRCm38) |
nonsense |
probably null |
|
|
R1973:Efl1
|
UTSW |
7 |
82,762,877 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2016:Efl1
|
UTSW |
7 |
82,753,709 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2124:Efl1
|
UTSW |
7 |
82,692,913 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2290:Efl1
|
UTSW |
7 |
82,777,670 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2415:Efl1
|
UTSW |
7 |
82,697,967 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3545:Efl1
|
UTSW |
7 |
82,762,810 (GRCm38) |
missense |
probably benign |
0.00 |
|
R3688:Efl1
|
UTSW |
7 |
82,762,970 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4092:Efl1
|
UTSW |
7 |
82,762,827 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4207:Efl1
|
UTSW |
7 |
82,750,816 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4347:Efl1
|
UTSW |
7 |
82,697,966 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4425:Efl1
|
UTSW |
7 |
82,763,283 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4816:Efl1
|
UTSW |
7 |
82,671,719 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4858:Efl1
|
UTSW |
7 |
82,671,627 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5077:Efl1
|
UTSW |
7 |
82,658,087 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5185:Efl1
|
UTSW |
7 |
82,772,499 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5319:Efl1
|
UTSW |
7 |
82,674,506 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5771:Efl1
|
UTSW |
7 |
82,692,524 (GRCm38) |
missense |
probably benign |
0.26 |
|
R5857:Efl1
|
UTSW |
7 |
82,763,189 (GRCm38) |
missense |
probably benign |
|
|
R5956:Efl1
|
UTSW |
7 |
82,651,899 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6433:Efl1
|
UTSW |
7 |
82,674,568 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7131:Efl1
|
UTSW |
7 |
82,658,064 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7143:Efl1
|
UTSW |
7 |
82,762,680 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7312:Efl1
|
UTSW |
7 |
82,681,444 (GRCm38) |
missense |
probably benign |
0.10 |
|
R7409:Efl1
|
UTSW |
7 |
82,697,913 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7422:Efl1
|
UTSW |
7 |
82,681,379 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7453:Efl1
|
UTSW |
7 |
82,681,467 (GRCm38) |
missense |
possibly damaging |
0.76 |
|
R7504:Efl1
|
UTSW |
7 |
82,683,049 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7884:Efl1
|
UTSW |
7 |
82,658,099 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7969:Efl1
|
UTSW |
7 |
82,692,970 (GRCm38) |
missense |
probably benign |
0.03 |
|
R8702:Efl1
|
UTSW |
7 |
82,750,790 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R8924:Efl1
|
UTSW |
7 |
82,762,953 (GRCm38) |
missense |
probably benign |
0.03 |
|
R9463:Efl1
|
UTSW |
7 |
82,777,525 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9762:Efl1
|
UTSW |
7 |
82,763,388 (GRCm38) |
missense |
probably benign |
0.09 |
|
Z1088:Efl1
|
UTSW |
7 |
82,692,850 (GRCm38) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTCGGATGGGCTTATCACC -3'
(R):5'- CTATTGCCAAAGTCTCGGAATC -3'
Sequencing Primer
(F):5'- GATGGGCTTATCACCATACCG -3'
(R):5'- AAAGTCTCGGAATCTGCTGGC -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation