Incidental Mutation 'IGL00541:Efl1'
ID |
5214 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Efl1
|
Ensembl Gene |
ENSMUSG00000038563 |
Gene Name |
elongation factor like GPTase 1 |
Synonyms |
6030468D11Rik, 4932434J20Rik, D7Ertd791e, Eftud1 |
Accession Numbers |
|
Is this an essential gene? |
Probably essential
(E-score: 0.903)
|
Stock # |
IGL00541
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
82648614-82777852 bp(+) (GRCm38) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 82658111 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 72
(S72P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000146350
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039881]
[ENSMUST00000141726]
[ENSMUST00000179489]
[ENSMUST00000207868]
|
AlphaFold |
Q8C0D5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000039881
AA Change: S72P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000046046 Gene: ENSMUSG00000038563 AA Change: S72P
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 |
noncoding transcript
Transcript: ENSMUST00000125245
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000141726
AA Change: S72P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000121909 Gene: ENSMUSG00000038563 AA Change: S72P
Domain | Start | End | E-Value | Type |
Pfam:GTP_EFTU
|
17 |
222 |
2.3e-57 |
PFAM |
Pfam:MMR_HSR1
|
21 |
147 |
2e-6 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000179489
AA Change: S72P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000137061 Gene: ENSMUSG00000038563 AA Change: S72P
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 |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000207868
AA Change: S72P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Coding Region Coverage |
|
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: 12 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Bmp2k |
G |
A |
5: 97,063,548 |
|
probably null |
Het |
Col6a3 |
T |
C |
1: 90,802,142 |
H1207R |
possibly damaging |
Het |
Fbxw9 |
A |
T |
8: 85,066,590 |
I435F |
probably damaging |
Het |
Gm14548 |
T |
A |
7: 3,897,386 |
|
probably benign |
Het |
Gm9837 |
G |
A |
11: 53,470,252 |
|
probably benign |
Het |
Lama2 |
C |
A |
10: 27,188,306 |
L1226F |
probably benign |
Het |
Nbea |
G |
A |
3: 55,968,089 |
P1720L |
probably benign |
Het |
Slco1a6 |
G |
T |
6: 142,096,299 |
T517K |
possibly damaging |
Het |
Sult2a2 |
T |
C |
7: 13,734,759 |
L50P |
probably damaging |
Het |
Syt9 |
A |
T |
7: 107,502,180 |
N378Y |
probably null |
Het |
Tchh |
A |
G |
3: 93,446,250 |
E999G |
unknown |
Het |
Usp9x |
A |
G |
X: 13,141,746 |
T1425A |
probably benign |
Het |
|
Other mutations in Efl1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00696:Efl1
|
APN |
7 |
82651872 |
splice site |
probably benign |
|
IGL01344:Efl1
|
APN |
7 |
82681480 |
splice site |
probably benign |
|
IGL01871:Efl1
|
APN |
7 |
82763319 |
missense |
possibly damaging |
0.64 |
IGL01941:Efl1
|
APN |
7 |
82697976 |
missense |
probably benign |
0.17 |
IGL02104:Efl1
|
APN |
7 |
82658055 |
critical splice acceptor site |
probably null |
|
IGL02150:Efl1
|
APN |
7 |
82686691 |
missense |
probably benign |
|
IGL02484:Efl1
|
APN |
7 |
82683039 |
missense |
probably damaging |
0.98 |
IGL03140:Efl1
|
APN |
7 |
82692881 |
missense |
probably benign |
0.00 |
IGL03188:Efl1
|
APN |
7 |
82671701 |
missense |
probably damaging |
1.00 |
IGL03014:Efl1
|
UTSW |
7 |
82651886 |
missense |
probably damaging |
1.00 |
PIT4469001:Efl1
|
UTSW |
7 |
82658165 |
missense |
probably benign |
0.14 |
R0148:Efl1
|
UTSW |
7 |
82671670 |
missense |
probably damaging |
1.00 |
R0226:Efl1
|
UTSW |
7 |
82693011 |
splice site |
probably benign |
|
R0638:Efl1
|
UTSW |
7 |
82651887 |
missense |
probably damaging |
1.00 |
R0684:Efl1
|
UTSW |
7 |
82651886 |
missense |
probably damaging |
1.00 |
R1018:Efl1
|
UTSW |
7 |
82763013 |
missense |
possibly damaging |
0.94 |
R1290:Efl1
|
UTSW |
7 |
82671728 |
missense |
probably damaging |
1.00 |
R1720:Efl1
|
UTSW |
7 |
82683721 |
missense |
possibly damaging |
0.50 |
R1933:Efl1
|
UTSW |
7 |
82763117 |
nonsense |
probably null |
|
R1973:Efl1
|
UTSW |
7 |
82762877 |
missense |
probably damaging |
1.00 |
R2016:Efl1
|
UTSW |
7 |
82753709 |
missense |
probably damaging |
1.00 |
R2124:Efl1
|
UTSW |
7 |
82692913 |
missense |
probably damaging |
1.00 |
R2290:Efl1
|
UTSW |
7 |
82777670 |
missense |
probably damaging |
1.00 |
R2415:Efl1
|
UTSW |
7 |
82697967 |
missense |
probably damaging |
1.00 |
R3545:Efl1
|
UTSW |
7 |
82762810 |
missense |
probably benign |
0.00 |
R3688:Efl1
|
UTSW |
7 |
82762970 |
missense |
probably benign |
0.00 |
R4092:Efl1
|
UTSW |
7 |
82762827 |
missense |
probably benign |
0.00 |
R4207:Efl1
|
UTSW |
7 |
82750816 |
missense |
probably damaging |
0.98 |
R4347:Efl1
|
UTSW |
7 |
82697966 |
missense |
probably damaging |
1.00 |
R4425:Efl1
|
UTSW |
7 |
82763283 |
missense |
probably damaging |
0.99 |
R4816:Efl1
|
UTSW |
7 |
82671719 |
missense |
probably damaging |
1.00 |
R4858:Efl1
|
UTSW |
7 |
82671627 |
missense |
probably damaging |
1.00 |
R5077:Efl1
|
UTSW |
7 |
82658087 |
missense |
probably damaging |
1.00 |
R5185:Efl1
|
UTSW |
7 |
82772499 |
missense |
probably damaging |
1.00 |
R5319:Efl1
|
UTSW |
7 |
82674506 |
missense |
probably damaging |
1.00 |
R5771:Efl1
|
UTSW |
7 |
82692524 |
missense |
probably benign |
0.26 |
R5857:Efl1
|
UTSW |
7 |
82763189 |
missense |
probably benign |
|
R5956:Efl1
|
UTSW |
7 |
82651899 |
missense |
probably damaging |
1.00 |
R6433:Efl1
|
UTSW |
7 |
82674568 |
missense |
probably damaging |
1.00 |
R7131:Efl1
|
UTSW |
7 |
82658064 |
missense |
probably damaging |
1.00 |
R7143:Efl1
|
UTSW |
7 |
82762680 |
missense |
probably damaging |
1.00 |
R7312:Efl1
|
UTSW |
7 |
82681444 |
missense |
probably benign |
0.10 |
R7409:Efl1
|
UTSW |
7 |
82697913 |
missense |
probably damaging |
0.98 |
R7422:Efl1
|
UTSW |
7 |
82681379 |
missense |
probably damaging |
1.00 |
R7453:Efl1
|
UTSW |
7 |
82681467 |
missense |
possibly damaging |
0.76 |
R7504:Efl1
|
UTSW |
7 |
82683049 |
missense |
probably damaging |
1.00 |
R7884:Efl1
|
UTSW |
7 |
82658099 |
missense |
probably damaging |
1.00 |
R7969:Efl1
|
UTSW |
7 |
82692970 |
missense |
probably benign |
0.03 |
R8394:Efl1
|
UTSW |
7 |
82762778 |
missense |
probably benign |
0.00 |
R8702:Efl1
|
UTSW |
7 |
82750790 |
critical splice acceptor site |
probably null |
|
R8924:Efl1
|
UTSW |
7 |
82762953 |
missense |
probably benign |
0.03 |
R9463:Efl1
|
UTSW |
7 |
82777525 |
missense |
probably damaging |
1.00 |
R9762:Efl1
|
UTSW |
7 |
82763388 |
missense |
probably benign |
0.09 |
Z1088:Efl1
|
UTSW |
7 |
82692850 |
missense |
probably benign |
0.00 |
|
Posted On |
2012-04-20 |