Incidental Mutation 'R3545:Efl1'
ID |
268166 |
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 # |
R3545 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
82297822-82427060 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 82412018 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 802
(E802D)
|
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: E802D
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000046046 Gene: ENSMUSG00000038563 AA Change: E802D
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: E802D
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000137061 Gene: ENSMUSG00000038563 AA Change: E802D
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: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.7%
|
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankrd28 |
A |
G |
14: 31,437,217 (GRCm39) |
L646S |
probably benign |
Het |
Clip1 |
A |
G |
5: 123,769,141 (GRCm39) |
L532P |
probably damaging |
Het |
F11r |
T |
C |
1: 171,288,829 (GRCm39) |
V149A |
probably damaging |
Het |
Fhit |
T |
C |
14: 9,870,095 (GRCm38) |
T125A |
probably benign |
Het |
Fmn2 |
A |
G |
1: 174,330,192 (GRCm39) |
D194G |
unknown |
Het |
Gdi1 |
T |
A |
X: 73,351,414 (GRCm39) |
F175L |
possibly damaging |
Het |
Herc3 |
T |
C |
6: 58,833,670 (GRCm39) |
S186P |
probably damaging |
Het |
Hexa |
A |
G |
9: 59,464,581 (GRCm39) |
N157S |
probably damaging |
Het |
Kdm1b |
C |
T |
13: 47,216,553 (GRCm39) |
R308W |
probably damaging |
Het |
Lig1 |
T |
A |
7: 13,026,089 (GRCm39) |
N281K |
possibly damaging |
Het |
Lrp1b |
A |
T |
2: 40,490,300 (GRCm39) |
L287H |
probably damaging |
Het |
Mcf2 |
T |
C |
X: 59,180,806 (GRCm39) |
K74R |
probably damaging |
Het |
Nat1 |
A |
G |
8: 67,943,684 (GRCm39) |
D23G |
possibly damaging |
Het |
Nbeal1 |
T |
C |
1: 60,317,939 (GRCm39) |
F1959L |
probably damaging |
Het |
Ncf1 |
T |
A |
5: 134,255,463 (GRCm39) |
K143* |
probably null |
Het |
Nid2 |
T |
A |
14: 19,813,779 (GRCm39) |
Y195N |
probably damaging |
Het |
Nlrp9a |
T |
C |
7: 26,256,757 (GRCm39) |
I125T |
probably benign |
Het |
Nme7 |
T |
C |
1: 164,213,351 (GRCm39) |
F343S |
probably damaging |
Het |
Otud4 |
A |
G |
8: 80,391,684 (GRCm39) |
E443G |
probably damaging |
Het |
Palld |
G |
T |
8: 62,003,112 (GRCm39) |
A329E |
possibly damaging |
Het |
Pask |
A |
T |
1: 93,244,837 (GRCm39) |
V1095D |
probably damaging |
Het |
Pdzd2 |
C |
T |
15: 12,375,557 (GRCm39) |
R1526Q |
probably benign |
Het |
Prkcq |
A |
G |
2: 11,288,627 (GRCm39) |
K527E |
probably benign |
Het |
Ramac |
T |
A |
7: 81,418,270 (GRCm39) |
|
probably null |
Het |
Reln |
A |
G |
5: 22,432,598 (GRCm39) |
V134A |
possibly damaging |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Septin9 |
T |
C |
11: 117,243,499 (GRCm39) |
I350T |
probably damaging |
Het |
Slc16a7 |
T |
A |
10: 125,130,569 (GRCm39) |
K39* |
probably null |
Het |
Spata32 |
T |
C |
11: 103,101,570 (GRCm39) |
E21G |
possibly damaging |
Het |
Tbc1d1 |
G |
A |
5: 64,443,350 (GRCm39) |
R523Q |
probably damaging |
Het |
Thnsl1 |
T |
G |
2: 21,217,438 (GRCm39) |
D397E |
probably benign |
Het |
Tubal3 |
T |
G |
13: 3,983,560 (GRCm39) |
*447G |
probably null |
Het |
Uprt |
T |
A |
X: 103,526,934 (GRCm39) |
L123H |
probably damaging |
Het |
Usp9x |
T |
C |
X: 12,994,629 (GRCm39) |
L940P |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CGGATGGGCTTATCACCATAC -3'
(R):5'- ATGCTATTGCCAAAGTCTCGG -3'
Sequencing Primer
(F):5'- GATGGGCTTATCACCATACCGACTC -3'
(R):5'- TGCCAAAGTCTCGGAATCTG -3'
|
Posted On |
2015-02-19 |