Incidental Mutation 'R4092:Efl1'
| ID |
317667 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Efl1
|
| Ensembl Gene |
ENSMUSG00000038563 |
| Gene Name |
elongation factor like GTPase 1 |
| Synonyms |
D7Ertd791e, 6030468D11Rik, 4932434J20Rik, Eftud1 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.878)
|
| Stock # |
R4092 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
82297822-82427060 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 82412035 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 808
(E808G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137061
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039881]
[ENSMUST00000179489]
|
| AlphaFold |
Q8C0D5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039881
AA Change: E808G
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000046046
Gene: ENSMUSG00000038563
AA Change: E808G
| 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: E808G
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000137061
Gene: ENSMUSG00000038563
AA Change: E808G
| 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 |
|
| Meta Mutation Damage Score |
0.0829 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.0%
|
| Validation Efficiency |
100% (53/53) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2010315B03Rik |
A |
T |
9: 124,055,903 (GRCm39) |
H340Q |
probably benign |
Het |
| Adam22 |
A |
T |
5: 8,145,004 (GRCm39) |
I116N |
probably damaging |
Het |
| Adamts2 |
T |
A |
11: 50,678,103 (GRCm39) |
V794E |
probably damaging |
Het |
| Ak9 |
T |
C |
10: 41,265,140 (GRCm39) |
S966P |
probably benign |
Het |
| Alox5 |
G |
A |
6: 116,389,635 (GRCm39) |
|
probably benign |
Het |
| Bmerb1 |
G |
A |
16: 13,867,346 (GRCm39) |
R68H |
probably damaging |
Het |
| Brip1 |
C |
T |
11: 86,039,347 (GRCm39) |
D396N |
possibly damaging |
Het |
| Catsper3 |
C |
T |
13: 55,932,484 (GRCm39) |
H4Y |
probably benign |
Het |
| Cmtm2a |
T |
C |
8: 105,019,403 (GRCm39) |
Y62C |
probably benign |
Het |
| Crim1 |
T |
C |
17: 78,658,265 (GRCm39) |
C715R |
probably damaging |
Het |
| Dio3 |
A |
G |
12: 110,246,234 (GRCm39) |
D190G |
possibly damaging |
Het |
| Eif1ad16 |
A |
T |
12: 87,985,194 (GRCm39) |
N116K |
possibly damaging |
Het |
| Fam83b |
T |
C |
9: 76,398,943 (GRCm39) |
D720G |
probably benign |
Het |
| Fbp2 |
C |
T |
13: 62,988,174 (GRCm39) |
V246M |
possibly damaging |
Het |
| Gm10197 |
G |
A |
19: 53,360,196 (GRCm39) |
|
probably benign |
Het |
| Icam2 |
C |
A |
11: 106,271,623 (GRCm39) |
M1I |
probably null |
Het |
| Insyn2b |
G |
A |
11: 34,351,935 (GRCm39) |
|
probably benign |
Het |
| Kit |
T |
C |
5: 75,771,470 (GRCm39) |
I209T |
probably benign |
Het |
| Lcmt1 |
T |
C |
7: 123,017,476 (GRCm39) |
V200A |
probably damaging |
Het |
| Lrrn2 |
C |
T |
1: 132,865,390 (GRCm39) |
Q152* |
probably null |
Het |
| Mmadhc |
A |
G |
2: 50,177,895 (GRCm39) |
M174T |
probably benign |
Het |
| N4bp2 |
A |
G |
5: 65,947,799 (GRCm39) |
N143S |
probably benign |
Het |
| Ndufs1 |
G |
A |
1: 63,196,405 (GRCm39) |
A340V |
possibly damaging |
Het |
| Nid1 |
A |
G |
13: 13,661,224 (GRCm39) |
D708G |
probably damaging |
Het |
| Noc2l |
A |
C |
4: 156,327,033 (GRCm39) |
T295P |
probably damaging |
Het |
| Nutm1 |
T |
A |
2: 112,079,809 (GRCm39) |
N702I |
probably damaging |
Het |
| Obscn |
T |
A |
11: 58,946,886 (GRCm39) |
M4083L |
probably benign |
Het |
| Or5b104 |
T |
C |
19: 13,072,790 (GRCm39) |
Y74C |
probably damaging |
Het |
| Otol1 |
T |
A |
3: 69,935,118 (GRCm39) |
I370N |
probably damaging |
Het |
| Paip1 |
T |
G |
13: 119,586,449 (GRCm39) |
S58A |
probably benign |
Het |
| Pfas |
T |
C |
11: 68,884,775 (GRCm39) |
T476A |
probably benign |
Het |
| Plppr3 |
G |
T |
10: 79,703,314 (GRCm39) |
R57S |
probably damaging |
Het |
| Ptgir |
T |
C |
7: 16,640,932 (GRCm39) |
S75P |
probably damaging |
Het |
| Raver1 |
A |
T |
9: 20,992,568 (GRCm39) |
L287Q |
probably damaging |
Het |
| Rps6ka4 |
C |
T |
19: 6,809,623 (GRCm39) |
|
probably null |
Het |
| Rps6-ps2 |
A |
G |
8: 89,533,319 (GRCm39) |
|
noncoding transcript |
Het |
| Scn11a |
T |
A |
9: 119,619,036 (GRCm39) |
M769L |
probably benign |
Het |
| Serpina16 |
G |
T |
12: 103,638,836 (GRCm39) |
H250Q |
probably benign |
Het |
| Serpina3a |
G |
A |
12: 104,082,625 (GRCm39) |
V133I |
probably benign |
Het |
| Slc12a8 |
G |
A |
16: 33,437,491 (GRCm39) |
G308D |
probably damaging |
Het |
| Slfn5 |
T |
C |
11: 82,851,893 (GRCm39) |
L673P |
probably damaging |
Het |
| Sorcs2 |
T |
C |
5: 36,183,166 (GRCm39) |
K1036E |
possibly damaging |
Het |
| Speer3 |
C |
G |
5: 13,846,394 (GRCm39) |
A238G |
possibly damaging |
Het |
| Sptbn5 |
C |
A |
2: 119,897,532 (GRCm39) |
E550D |
probably damaging |
Het |
| Srgap3 |
G |
T |
6: 112,700,045 (GRCm39) |
P1002T |
probably benign |
Het |
| Tollip |
C |
T |
7: 141,438,180 (GRCm39) |
R181H |
probably damaging |
Het |
| Trmt1l |
T |
A |
1: 151,330,784 (GRCm39) |
S600R |
probably benign |
Het |
| Vps16 |
T |
A |
2: 130,281,832 (GRCm39) |
Y315N |
probably damaging |
Het |
| Vps50 |
A |
G |
6: 3,551,037 (GRCm39) |
E367G |
probably benign |
Het |
|
| Other mutations in Efl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00541:Efl1
|
APN |
7 |
82,307,319 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00696:Efl1
|
APN |
7 |
82,301,080 (GRCm39) |
splice site |
probably benign |
|
|
IGL01344:Efl1
|
APN |
7 |
82,330,688 (GRCm39) |
splice site |
probably benign |
|
|
IGL01871:Efl1
|
APN |
7 |
82,412,527 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
IGL01941:Efl1
|
APN |
7 |
82,347,184 (GRCm39) |
missense |
probably benign |
0.17 |
|
IGL02104:Efl1
|
APN |
7 |
82,307,263 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL02150:Efl1
|
APN |
7 |
82,335,899 (GRCm39) |
missense |
probably benign |
|
|
IGL02484:Efl1
|
APN |
7 |
82,332,247 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03140:Efl1
|
APN |
7 |
82,342,089 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03188:Efl1
|
APN |
7 |
82,320,909 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03014:Efl1
|
UTSW |
7 |
82,301,094 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4469001:Efl1
|
UTSW |
7 |
82,307,373 (GRCm39) |
missense |
probably benign |
0.14 |
|
R0148:Efl1
|
UTSW |
7 |
82,320,878 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0226:Efl1
|
UTSW |
7 |
82,342,219 (GRCm39) |
splice site |
probably benign |
|
|
R0638:Efl1
|
UTSW |
7 |
82,301,095 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0684:Efl1
|
UTSW |
7 |
82,301,094 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1018:Efl1
|
UTSW |
7 |
82,412,221 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1290:Efl1
|
UTSW |
7 |
82,320,936 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1720:Efl1
|
UTSW |
7 |
82,332,929 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R1933:Efl1
|
UTSW |
7 |
82,412,325 (GRCm39) |
nonsense |
probably null |
|
|
R1973:Efl1
|
UTSW |
7 |
82,412,085 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2016:Efl1
|
UTSW |
7 |
82,402,917 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2124:Efl1
|
UTSW |
7 |
82,342,121 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2290:Efl1
|
UTSW |
7 |
82,426,878 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2415:Efl1
|
UTSW |
7 |
82,347,175 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3545:Efl1
|
UTSW |
7 |
82,412,018 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3688:Efl1
|
UTSW |
7 |
82,412,178 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4207:Efl1
|
UTSW |
7 |
82,400,024 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4347:Efl1
|
UTSW |
7 |
82,347,174 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4425:Efl1
|
UTSW |
7 |
82,412,491 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4816:Efl1
|
UTSW |
7 |
82,320,927 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4858:Efl1
|
UTSW |
7 |
82,320,835 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5077:Efl1
|
UTSW |
7 |
82,307,295 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5185:Efl1
|
UTSW |
7 |
82,421,707 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5319:Efl1
|
UTSW |
7 |
82,323,714 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5771:Efl1
|
UTSW |
7 |
82,341,732 (GRCm39) |
missense |
probably benign |
0.26 |
|
R5857:Efl1
|
UTSW |
7 |
82,412,397 (GRCm39) |
missense |
probably benign |
|
|
R5956:Efl1
|
UTSW |
7 |
82,301,107 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6433:Efl1
|
UTSW |
7 |
82,323,776 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7131:Efl1
|
UTSW |
7 |
82,307,272 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7143:Efl1
|
UTSW |
7 |
82,411,888 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7312:Efl1
|
UTSW |
7 |
82,330,652 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7409:Efl1
|
UTSW |
7 |
82,347,121 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7422:Efl1
|
UTSW |
7 |
82,330,587 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7453:Efl1
|
UTSW |
7 |
82,330,675 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R7504:Efl1
|
UTSW |
7 |
82,332,257 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7884:Efl1
|
UTSW |
7 |
82,307,307 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7969:Efl1
|
UTSW |
7 |
82,342,178 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8394:Efl1
|
UTSW |
7 |
82,411,986 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8702:Efl1
|
UTSW |
7 |
82,399,998 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8924:Efl1
|
UTSW |
7 |
82,412,161 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9463:Efl1
|
UTSW |
7 |
82,426,733 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9762:Efl1
|
UTSW |
7 |
82,412,596 (GRCm39) |
missense |
probably benign |
0.09 |
|
Z1088:Efl1
|
UTSW |
7 |
82,342,058 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGGCTTATCACCATACCGAC -3'
(R):5'- TCACAATGCTATTGCCAAAGTCTC -3'
Sequencing Primer
(F):5'- AAACTGGCCACTCTCAGTGTC -3'
(R):5'- TGCCAAAGTCTCGGAATCTG -3'
|
| Posted On |
2015-05-15 |
Incidental Mutation