Incidental Mutation 'R7884:Efl1'
ID |
608942 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Efl1
|
Ensembl Gene |
ENSMUSG00000038563 |
Gene Name |
elongation factor like GTPase 1 |
Synonyms |
D7Ertd791e, 6030468D11Rik, 4932434J20Rik, Eftud1 |
MMRRC Submission |
045936-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.878)
|
Stock # |
R7884 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
82297822-82427060 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 82307307 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 68
(I68V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000046046
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039881]
[ENSMUST00000141726]
[ENSMUST00000179489]
[ENSMUST00000207868]
|
AlphaFold |
Q8C0D5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000039881
AA Change: I68V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000046046 Gene: ENSMUSG00000038563 AA Change: I68V
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: ENSMUST00000141726
AA Change: I68V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000121909 Gene: ENSMUSG00000038563 AA Change: I68V
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: I68V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000137061 Gene: ENSMUSG00000038563 AA Change: I68V
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: I68V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
100% (61/61) |
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgap31 |
T |
C |
16: 38,422,593 (GRCm39) |
T1158A |
probably damaging |
Het |
Arhgap32 |
A |
G |
9: 32,171,810 (GRCm39) |
E1530G |
possibly damaging |
Het |
C3 |
A |
G |
17: 57,533,264 (GRCm39) |
F113S |
probably benign |
Het |
Ccng2 |
C |
G |
5: 93,421,202 (GRCm39) |
S237R |
probably benign |
Het |
Csmd1 |
T |
C |
8: 16,011,418 (GRCm39) |
N2545S |
probably damaging |
Het |
Ctsh |
A |
G |
9: 89,943,476 (GRCm39) |
D49G |
probably benign |
Het |
Cyp7a1 |
T |
A |
4: 6,272,697 (GRCm39) |
Y172F |
probably benign |
Het |
Ddx52 |
A |
G |
11: 83,842,911 (GRCm39) |
|
probably null |
Het |
Dmxl1 |
A |
G |
18: 50,026,474 (GRCm39) |
T1861A |
possibly damaging |
Het |
Dnah7c |
C |
T |
1: 46,830,929 (GRCm39) |
L3813F |
probably benign |
Het |
Etnk2 |
T |
C |
1: 133,293,438 (GRCm39) |
V127A |
possibly damaging |
Het |
Fank1 |
G |
C |
7: 133,478,554 (GRCm39) |
R206P |
probably damaging |
Het |
Fbxl9 |
A |
G |
8: 106,042,165 (GRCm39) |
I221T |
probably benign |
Het |
Fbxw27 |
G |
A |
9: 109,618,468 (GRCm39) |
R73* |
probably null |
Het |
Fndc1 |
A |
T |
17: 7,992,029 (GRCm39) |
S556T |
unknown |
Het |
Gnb3 |
T |
C |
6: 124,814,055 (GRCm39) |
T178A |
probably benign |
Het |
H2bc12 |
T |
C |
13: 22,220,225 (GRCm39) |
S57P |
probably damaging |
Het |
H2-M10.3 |
A |
T |
17: 36,677,174 (GRCm39) |
L326Q |
probably benign |
Het |
Idh2 |
GGTCCCAG |
GG |
7: 79,748,077 (GRCm39) |
|
probably benign |
Het |
Itfg2 |
T |
C |
6: 128,393,344 (GRCm39) |
|
probably benign |
Het |
Kcnma1 |
G |
A |
14: 23,387,057 (GRCm39) |
P995L |
probably benign |
Het |
Lama1 |
G |
A |
17: 68,076,430 (GRCm39) |
G1068D |
|
Het |
Lats1 |
A |
T |
10: 7,573,290 (GRCm39) |
K125* |
probably null |
Het |
Lipg |
C |
T |
18: 75,081,078 (GRCm39) |
M334I |
probably damaging |
Het |
Loxhd1 |
A |
T |
18: 77,518,909 (GRCm39) |
E1905V |
probably damaging |
Het |
Lpin1 |
C |
T |
12: 16,612,370 (GRCm39) |
G544D |
|
Het |
Lyst |
A |
T |
13: 13,882,268 (GRCm39) |
N2853I |
probably benign |
Het |
Mars1 |
A |
G |
10: 127,136,114 (GRCm39) |
I525T |
probably damaging |
Het |
Miga2 |
T |
A |
2: 30,261,216 (GRCm39) |
D170E |
probably benign |
Het |
Mrpl34 |
T |
C |
8: 71,917,911 (GRCm39) |
V28A |
probably benign |
Het |
Muc16 |
A |
T |
9: 18,553,990 (GRCm39) |
V4101E |
unknown |
Het |
Muc5ac |
G |
C |
7: 141,363,040 (GRCm39) |
G2117A |
unknown |
Het |
Myo1f |
A |
G |
17: 33,817,270 (GRCm39) |
Y771C |
probably damaging |
Het |
Nr2f1 |
G |
A |
13: 78,337,988 (GRCm39) |
T376I |
probably benign |
Het |
Nsd1 |
A |
G |
13: 55,461,068 (GRCm39) |
T2535A |
probably damaging |
Het |
Nup98 |
T |
A |
7: 101,825,556 (GRCm39) |
T428S |
probably benign |
Het |
Omd |
A |
G |
13: 49,743,630 (GRCm39) |
M227V |
probably damaging |
Het |
Osbpl7 |
A |
C |
11: 96,951,283 (GRCm39) |
I657L |
possibly damaging |
Het |
Pdgfrb |
T |
C |
18: 61,205,730 (GRCm39) |
V572A |
probably damaging |
Het |
Pik3c3 |
T |
C |
18: 30,445,624 (GRCm39) |
V537A |
probably benign |
Het |
Pou2f2 |
T |
C |
7: 24,815,489 (GRCm39) |
M93V |
probably benign |
Het |
Ppip5k2 |
T |
C |
1: 97,668,207 (GRCm39) |
T640A |
probably benign |
Het |
Ptar1 |
C |
T |
19: 23,686,158 (GRCm39) |
P157S |
probably benign |
Het |
Rapgef2 |
T |
A |
3: 78,973,933 (GRCm39) |
D1471V |
possibly damaging |
Het |
Rgs7 |
A |
T |
1: 174,977,216 (GRCm39) |
|
probably null |
Het |
Rhag |
A |
G |
17: 41,142,536 (GRCm39) |
Y247C |
probably benign |
Het |
Sardh |
A |
G |
2: 27,129,383 (GRCm39) |
I305T |
probably damaging |
Het |
Scn11a |
A |
G |
9: 119,633,617 (GRCm39) |
I372T |
probably benign |
Het |
Scn3a |
G |
T |
2: 65,366,859 (GRCm39) |
D54E |
probably damaging |
Het |
Senp2 |
A |
G |
16: 21,832,981 (GRCm39) |
T90A |
probably benign |
Het |
Serpinh1 |
C |
T |
7: 98,998,495 (GRCm39) |
R45H |
probably benign |
Het |
Siglecg |
T |
C |
7: 43,058,703 (GRCm39) |
V152A |
probably benign |
Het |
Sipa1l2 |
T |
A |
8: 126,174,337 (GRCm39) |
M1314L |
probably benign |
Het |
Slc23a1 |
A |
G |
18: 35,759,002 (GRCm39) |
F63S |
possibly damaging |
Het |
Slc25a40 |
T |
A |
5: 8,492,509 (GRCm39) |
L133Q |
probably damaging |
Het |
Slc6a16 |
A |
G |
7: 44,908,771 (GRCm39) |
E117G |
probably damaging |
Het |
Thoc2l |
T |
C |
5: 104,669,212 (GRCm39) |
S1245P |
possibly damaging |
Het |
Tmem235 |
G |
A |
11: 117,755,033 (GRCm39) |
V162M |
probably benign |
Het |
Trank1 |
A |
G |
9: 111,221,584 (GRCm39) |
T2774A |
probably benign |
Het |
Trav10n |
A |
T |
14: 53,359,587 (GRCm39) |
H6L |
probably benign |
Het |
Trav13d-3 |
G |
A |
14: 53,270,704 (GRCm39) |
W55* |
probably null |
Het |
Zfp654 |
G |
T |
16: 64,672,011 (GRCm39) |
A2E |
probably damaging |
Het |
Zkscan5 |
A |
C |
5: 145,157,676 (GRCm39) |
H726P |
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 |
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 |
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'- AATCCTTCCTGGCTGAGGTG -3'
(R):5'- TCTCACAAGAGACCATCTGGAG -3'
Sequencing Primer
(F):5'- CCTGGCTGAGGTGTAAATGAGC -3'
(R):5'- AGACCATCTGGAGAGGCC -3'
|
Posted On |
2019-12-20 |