Incidental Mutation 'R5185:Efl1'
ID |
397815 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Efl1
|
Ensembl Gene |
ENSMUSG00000038563 |
Gene Name |
elongation factor like GTPase 1 |
Synonyms |
D7Ertd791e, 6030468D11Rik, 4932434J20Rik, Eftud1 |
MMRRC Submission |
042764-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.878)
|
Stock # |
R5185 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
82297822-82427060 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 82421707 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 1018
(L1018P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000137061
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039881]
[ENSMUST00000179489]
|
AlphaFold |
Q8C0D5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000039881
AA Change: L1018P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000046046 Gene: ENSMUSG00000038563 AA Change: L1018P
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 damaging
Transcript: ENSMUST00000179489
AA Change: L1018P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000137061 Gene: ENSMUSG00000038563 AA Change: L1018P
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 |
0.7819 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.4%
|
Validation Efficiency |
95% (70/74) |
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: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsf2 |
T |
C |
11: 94,453,737 (GRCm39) |
Y408C |
probably damaging |
Het |
Aox4 |
T |
C |
1: 58,293,477 (GRCm39) |
L943S |
probably damaging |
Het |
Ap1g1 |
G |
A |
8: 110,589,958 (GRCm39) |
|
probably benign |
Het |
Arsb |
T |
C |
13: 93,930,667 (GRCm39) |
S212P |
probably damaging |
Het |
Arsi |
A |
G |
18: 61,049,984 (GRCm39) |
N289S |
probably damaging |
Het |
Atp6v1h |
T |
A |
1: 5,165,865 (GRCm39) |
F72I |
probably damaging |
Het |
Atxn7 |
T |
C |
14: 14,090,063 (GRCm38) |
I336T |
probably benign |
Het |
Bak1 |
G |
A |
17: 27,241,722 (GRCm39) |
P65L |
possibly damaging |
Het |
Bcl6 |
A |
T |
16: 23,791,697 (GRCm39) |
M219K |
possibly damaging |
Het |
Brd3 |
T |
C |
2: 27,352,460 (GRCm39) |
K157E |
probably damaging |
Het |
Ccdc171 |
T |
G |
4: 83,581,892 (GRCm39) |
S674A |
possibly damaging |
Het |
Cfap43 |
A |
G |
19: 47,768,833 (GRCm39) |
I737T |
probably benign |
Het |
Cul9 |
A |
T |
17: 46,836,758 (GRCm39) |
V1089D |
possibly damaging |
Het |
Dffa |
C |
A |
4: 149,201,887 (GRCm39) |
A155E |
probably benign |
Het |
Dnhd1 |
G |
A |
7: 105,352,416 (GRCm39) |
R2523Q |
probably damaging |
Het |
Efcab12 |
T |
A |
6: 115,800,451 (GRCm39) |
M191L |
probably benign |
Het |
Fcho1 |
A |
G |
8: 72,167,600 (GRCm39) |
|
probably benign |
Het |
Fndc3b |
T |
A |
3: 27,511,219 (GRCm39) |
T764S |
probably benign |
Het |
Gm29125 |
T |
C |
1: 80,361,948 (GRCm39) |
|
noncoding transcript |
Het |
Gm5108 |
A |
G |
5: 68,101,953 (GRCm39) |
|
probably benign |
Het |
Gm9949 |
T |
G |
18: 62,313,636 (GRCm39) |
|
probably benign |
Het |
Golgb1 |
T |
C |
16: 36,695,503 (GRCm39) |
|
probably benign |
Het |
Gpd2 |
T |
C |
2: 57,230,216 (GRCm39) |
Y323H |
probably damaging |
Het |
Grip1 |
T |
G |
10: 119,767,164 (GRCm39) |
D96E |
probably benign |
Het |
Hmcn1 |
T |
C |
1: 150,532,492 (GRCm39) |
I3132V |
probably benign |
Het |
Hsd17b1 |
T |
C |
11: 100,971,024 (GRCm39) |
W327R |
possibly damaging |
Het |
Htra2 |
G |
A |
6: 83,031,223 (GRCm39) |
P62L |
probably benign |
Het |
Kdr |
A |
T |
5: 76,113,077 (GRCm39) |
|
probably null |
Het |
Kif14 |
T |
A |
1: 136,455,207 (GRCm39) |
C1626* |
probably null |
Het |
Kmt2a |
A |
T |
9: 44,731,543 (GRCm39) |
|
probably benign |
Het |
Krt15 |
T |
C |
11: 100,024,259 (GRCm39) |
T321A |
probably damaging |
Het |
Lactbl1 |
A |
T |
4: 136,358,356 (GRCm39) |
H109L |
probably benign |
Het |
Lilra6 |
T |
A |
7: 3,917,635 (GRCm39) |
H120L |
probably benign |
Het |
Lpcat2 |
G |
A |
8: 93,596,365 (GRCm39) |
S134N |
probably benign |
Het |
Mpp4 |
T |
C |
1: 59,164,742 (GRCm39) |
D465G |
probably benign |
Het |
Naip2 |
A |
T |
13: 100,325,859 (GRCm39) |
D16E |
probably damaging |
Het |
Nek5 |
C |
T |
8: 22,573,397 (GRCm39) |
A520T |
possibly damaging |
Het |
Nfatc2 |
A |
G |
2: 168,412,627 (GRCm39) |
F132L |
possibly damaging |
Het |
Nlrp3 |
C |
A |
11: 59,455,910 (GRCm39) |
T902N |
probably benign |
Het |
Or10d1b |
A |
T |
9: 39,613,172 (GRCm39) |
W298R |
probably benign |
Het |
Or4c123 |
A |
T |
2: 89,126,731 (GRCm39) |
H294Q |
probably benign |
Het |
Or7e165 |
T |
C |
9: 19,694,672 (GRCm39) |
M81T |
probably damaging |
Het |
Or8h7 |
T |
C |
2: 86,720,946 (GRCm39) |
D191G |
probably benign |
Het |
Pcdhb16 |
T |
C |
18: 37,613,142 (GRCm39) |
S701P |
possibly damaging |
Het |
Phf7 |
A |
G |
14: 30,969,994 (GRCm39) |
|
probably null |
Het |
Plpp4 |
G |
A |
7: 128,918,028 (GRCm39) |
V68M |
probably damaging |
Het |
Pnma2 |
A |
T |
14: 67,153,578 (GRCm39) |
M1L |
possibly damaging |
Het |
Pnma8b |
A |
T |
7: 16,679,901 (GRCm39) |
D295V |
probably damaging |
Het |
Rad21l |
T |
C |
2: 151,499,382 (GRCm39) |
D270G |
probably benign |
Het |
Ralgapa2 |
C |
A |
2: 146,230,406 (GRCm39) |
|
probably null |
Het |
Rasal3 |
A |
T |
17: 32,615,764 (GRCm39) |
L334Q |
probably damaging |
Het |
Rfx4 |
G |
T |
10: 84,699,114 (GRCm39) |
R240L |
probably damaging |
Het |
Rnf19b |
T |
A |
4: 128,977,713 (GRCm39) |
C642* |
probably null |
Het |
Slc28a2 |
G |
A |
2: 122,288,675 (GRCm39) |
E594K |
probably benign |
Het |
Spata31 |
G |
T |
13: 65,065,340 (GRCm39) |
W15L |
possibly damaging |
Het |
Spink5 |
T |
C |
18: 44,148,711 (GRCm39) |
S925P |
probably damaging |
Het |
Svep1 |
C |
T |
4: 58,084,534 (GRCm39) |
G1865S |
probably damaging |
Het |
Tg |
T |
C |
15: 66,645,323 (GRCm39) |
L791P |
probably damaging |
Het |
Thbs4 |
A |
C |
13: 92,911,675 (GRCm39) |
V247G |
probably damaging |
Het |
Tpcn2 |
A |
T |
7: 144,809,191 (GRCm39) |
F705Y |
probably damaging |
Het |
Try10 |
A |
T |
6: 41,333,483 (GRCm39) |
H76L |
probably damaging |
Het |
Ttn |
C |
T |
2: 76,769,565 (GRCm39) |
V2695I |
probably damaging |
Het |
Tut1 |
C |
A |
19: 8,932,814 (GRCm39) |
T49N |
probably benign |
Het |
Vmn1r17 |
A |
G |
6: 57,337,828 (GRCm39) |
V130A |
probably benign |
Het |
Xdh |
G |
A |
17: 74,232,006 (GRCm39) |
R235C |
probably damaging |
Het |
Yipf4 |
A |
G |
17: 74,799,470 (GRCm39) |
D70G |
probably null |
Het |
Zfp108 |
G |
T |
7: 23,960,163 (GRCm39) |
K251N |
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 |
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 |
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'- GGGCACATTTTGGACTCTTG -3'
(R):5'- AACAGCCAGCTTCACGTAG -3'
Sequencing Primer
(F):5'- GGCACATTTTGGACTCTTGTTATC -3'
(R):5'- AGCTTCACGTAGCCTCTGC -3'
|
Posted On |
2016-07-06 |