Incidental Mutation 'IGL01871:Efl1'
| ID |
178719 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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: 0.870)
|
| Stock # |
IGL01871
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
82297822-82427060 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 82412527 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 972
(M972T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137061
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039881]
[ENSMUST00000179489]
|
| AlphaFold |
Q8C0D5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000039881
AA Change: M972T
PolyPhen 2
Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000046046
Gene: ENSMUSG00000038563
AA Change: M972T
| 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 |
possibly damaging
Transcript: ENSMUST00000179489
AA Change: M972T
PolyPhen 2
Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000137061
Gene: ENSMUSG00000038563
AA Change: M972T
| 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 |
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
A |
T |
13: 81,620,513 (GRCm39) |
|
probably null |
Het |
| Aqp7 |
G |
A |
4: 41,045,321 (GRCm39) |
R20* |
probably null |
Het |
| Asxl2 |
G |
T |
12: 3,552,112 (GRCm39) |
V1285L |
probably benign |
Het |
| Bdp1 |
A |
T |
13: 100,202,561 (GRCm39) |
S688T |
probably benign |
Het |
| Cc2d2a |
A |
T |
5: 43,846,311 (GRCm39) |
I357F |
probably damaging |
Het |
| Clasp1 |
A |
T |
1: 118,498,619 (GRCm39) |
I884F |
probably damaging |
Het |
| Cpne4 |
T |
G |
9: 104,802,956 (GRCm39) |
M200R |
possibly damaging |
Het |
| Cyp2d10 |
T |
A |
15: 82,288,086 (GRCm39) |
D180V |
probably damaging |
Het |
| Dicer1 |
A |
T |
12: 104,670,439 (GRCm39) |
V1042D |
probably damaging |
Het |
| Dlc1 |
G |
A |
8: 37,317,334 (GRCm39) |
T447I |
probably damaging |
Het |
| Erbin |
A |
G |
13: 103,971,274 (GRCm39) |
S781P |
probably damaging |
Het |
| Galnt4 |
G |
A |
10: 98,945,103 (GRCm39) |
G276D |
probably damaging |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gmppa |
A |
G |
1: 75,413,661 (GRCm39) |
I41V |
probably damaging |
Het |
| Golga1 |
C |
T |
2: 38,940,210 (GRCm39) |
|
probably benign |
Het |
| H2-Ob |
G |
T |
17: 34,461,519 (GRCm39) |
W86L |
probably damaging |
Het |
| Hnrnpr |
G |
A |
4: 136,066,885 (GRCm39) |
R482H |
unknown |
Het |
| L2hgdh |
T |
C |
12: 69,768,869 (GRCm39) |
E81G |
probably damaging |
Het |
| Mre11a |
T |
C |
9: 14,723,193 (GRCm39) |
V389A |
possibly damaging |
Het |
| Mxra8 |
A |
G |
4: 155,927,258 (GRCm39) |
T372A |
probably benign |
Het |
| Ncapg |
T |
A |
5: 45,845,923 (GRCm39) |
S593R |
probably benign |
Het |
| Ndufaf1 |
C |
T |
2: 119,488,768 (GRCm39) |
W250* |
probably null |
Het |
| Neb |
T |
C |
2: 52,043,081 (GRCm39) |
E6783G |
probably damaging |
Het |
| Nmt2 |
T |
C |
2: 3,313,711 (GRCm39) |
Y175H |
probably damaging |
Het |
| Olfml2b |
T |
C |
1: 170,489,924 (GRCm39) |
|
probably benign |
Het |
| Pitpnm3 |
T |
A |
11: 71,946,964 (GRCm39) |
M812L |
probably damaging |
Het |
| Pou2f3 |
A |
G |
9: 43,045,768 (GRCm39) |
|
probably benign |
Het |
| Prkdc |
A |
G |
16: 15,600,951 (GRCm39) |
T2871A |
probably benign |
Het |
| Rapgef4 |
A |
G |
2: 72,028,704 (GRCm39) |
T392A |
possibly damaging |
Het |
| Rhov |
G |
T |
2: 119,101,219 (GRCm39) |
Q71K |
probably benign |
Het |
| Slc22a15 |
T |
C |
3: 101,768,110 (GRCm39) |
|
probably benign |
Het |
| Spaca1 |
T |
A |
4: 34,040,894 (GRCm39) |
N22Y |
probably damaging |
Het |
| Stmnd1 |
A |
G |
13: 46,443,189 (GRCm39) |
E107G |
probably damaging |
Het |
| Tent5b |
A |
G |
4: 133,213,620 (GRCm39) |
I164V |
possibly damaging |
Het |
| Timm22 |
T |
C |
11: 76,298,263 (GRCm39) |
V78A |
probably damaging |
Het |
| Usp47 |
T |
C |
7: 111,676,993 (GRCm39) |
|
probably benign |
Het |
| Utp4 |
A |
C |
8: 107,638,949 (GRCm39) |
K419T |
probably benign |
Het |
| Zfp410 |
T |
C |
12: 84,372,565 (GRCm39) |
|
probably null |
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 |
|
|
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 |
|
R4092:Efl1
|
UTSW |
7 |
82,412,035 (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 |
|
| Posted On |
2014-05-07 |
Incidental Mutation