Incidental Mutation 'IGL01941:Efl1'
| ID |
181171 |
| 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: 0.878)
|
| Stock # |
IGL01941
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
82297822-82427060 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 82347184 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 570
(E570G)
|
| 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: E570G
PolyPhen 2
Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000046046
Gene: ENSMUSG00000038563
AA Change: E570G
| 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 benign
Transcript: ENSMUST00000179489
AA Change: E570G
PolyPhen 2
Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000137061
Gene: ENSMUSG00000038563
AA Change: E570G
| 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 |
noncoding transcript
Transcript: ENSMUST00000209142
|
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9030624G23Rik |
A |
T |
12: 24,094,802 (GRCm39) |
L123Q |
probably benign |
Het |
| Abca2 |
C |
T |
2: 25,333,107 (GRCm39) |
S1602F |
probably benign |
Het |
| Abcc9 |
C |
A |
6: 142,551,630 (GRCm39) |
C1191F |
probably damaging |
Het |
| Adam3 |
G |
T |
8: 25,171,462 (GRCm39) |
|
probably benign |
Het |
| Aldh1l1 |
G |
T |
6: 90,539,677 (GRCm39) |
G202V |
probably damaging |
Het |
| Ankrd46 |
T |
C |
15: 36,486,083 (GRCm39) |
N57D |
possibly damaging |
Het |
| Asic1 |
A |
T |
15: 99,596,982 (GRCm39) |
H548L |
possibly damaging |
Het |
| Atpaf2 |
A |
G |
11: 60,294,724 (GRCm39) |
I233T |
probably benign |
Het |
| Ccdc185 |
G |
T |
1: 182,575,769 (GRCm39) |
Q307K |
probably benign |
Het |
| Cep120 |
T |
C |
18: 53,856,220 (GRCm39) |
D399G |
probably benign |
Het |
| Cnn2 |
G |
A |
10: 79,828,388 (GRCm39) |
V122M |
probably benign |
Het |
| Dgkd |
T |
C |
1: 87,852,281 (GRCm39) |
S472P |
probably damaging |
Het |
| Dock5 |
A |
C |
14: 68,049,681 (GRCm39) |
I701S |
probably damaging |
Het |
| Eln |
G |
A |
5: 134,747,024 (GRCm39) |
|
probably benign |
Het |
| Fat2 |
A |
G |
11: 55,202,831 (GRCm39) |
V81A |
probably benign |
Het |
| Fbxw21 |
T |
G |
9: 108,977,224 (GRCm39) |
I162L |
probably benign |
Het |
| Fhl2 |
G |
A |
1: 43,170,832 (GRCm39) |
Q161* |
probably null |
Het |
| Gabrg2 |
A |
G |
11: 41,862,548 (GRCm39) |
Y179H |
probably damaging |
Het |
| Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Grik5 |
A |
T |
7: 24,764,607 (GRCm39) |
I152N |
probably damaging |
Het |
| H2-Ab1 |
A |
T |
17: 34,486,408 (GRCm39) |
K156* |
probably null |
Het |
| Hecw1 |
T |
C |
13: 14,490,895 (GRCm39) |
Y699C |
probably benign |
Het |
| Ipo9 |
A |
C |
1: 135,335,811 (GRCm39) |
V202G |
possibly damaging |
Het |
| Itprid1 |
A |
G |
6: 55,945,030 (GRCm39) |
R584G |
probably benign |
Het |
| Jmjd6 |
A |
T |
11: 116,732,184 (GRCm39) |
|
probably null |
Het |
| Lama5 |
A |
G |
2: 179,834,185 (GRCm39) |
I1416T |
possibly damaging |
Het |
| Matn1 |
T |
C |
4: 130,679,572 (GRCm39) |
|
probably benign |
Het |
| Mavs |
T |
C |
2: 131,088,525 (GRCm39) |
V443A |
probably damaging |
Het |
| Mpdz |
A |
T |
4: 81,204,624 (GRCm39) |
S1798R |
possibly damaging |
Het |
| Muc6 |
A |
C |
7: 141,218,497 (GRCm39) |
S2059A |
probably benign |
Het |
| Or4a78 |
A |
T |
2: 89,497,812 (GRCm39) |
C139* |
probably null |
Het |
| Otud7b |
G |
T |
3: 96,062,776 (GRCm39) |
G672C |
probably benign |
Het |
| Palld |
T |
A |
8: 61,988,734 (GRCm39) |
T572S |
probably benign |
Het |
| Pde6b |
T |
A |
5: 108,570,902 (GRCm39) |
V379E |
probably benign |
Het |
| Peak1 |
A |
G |
9: 56,166,059 (GRCm39) |
V623A |
probably damaging |
Het |
| Prr12 |
C |
T |
7: 44,698,083 (GRCm39) |
|
probably benign |
Het |
| Rxra |
T |
C |
2: 27,644,253 (GRCm39) |
I315T |
probably damaging |
Het |
| Slc11a1 |
C |
T |
1: 74,416,338 (GRCm39) |
A55V |
probably damaging |
Het |
| Slitrk3 |
T |
C |
3: 72,958,404 (GRCm39) |
N123D |
possibly damaging |
Het |
| Smr2l |
A |
G |
5: 88,430,301 (GRCm39) |
S66G |
probably benign |
Het |
| Spcs1 |
A |
G |
14: 30,722,829 (GRCm39) |
M82T |
probably damaging |
Het |
| Sspo |
A |
G |
6: 48,472,116 (GRCm39) |
E113G |
probably benign |
Het |
| Syne2 |
A |
G |
12: 76,013,994 (GRCm39) |
K3062E |
probably benign |
Het |
| Traf3ip2 |
T |
C |
10: 39,510,656 (GRCm39) |
S310P |
probably benign |
Het |
| Ubp1 |
T |
C |
9: 113,785,826 (GRCm39) |
L167S |
probably damaging |
Het |
| Vmn1r196 |
T |
A |
13: 22,477,869 (GRCm39) |
C169* |
probably null |
Het |
| Vmn1r223 |
T |
A |
13: 23,434,407 (GRCm39) |
F334I |
possibly damaging |
Het |
| Vmn2r10 |
A |
T |
5: 109,143,820 (GRCm39) |
I710N |
probably damaging |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Wdr26 |
A |
G |
1: 181,038,635 (GRCm39) |
|
probably benign |
Het |
| Wnt7a |
A |
G |
6: 91,371,645 (GRCm39) |
F106L |
probably benign |
Het |
| Zfp940 |
C |
T |
7: 29,546,295 (GRCm39) |
V34M |
probably damaging |
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 |
|
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