Incidental Mutation 'R0638:Efl1'
| ID |
56814 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Efl1
|
| Ensembl Gene |
ENSMUSG00000038563 |
| Gene Name |
elongation factor like GTPase 1 |
| Synonyms |
D7Ertd791e, 6030468D11Rik, 4932434J20Rik, Eftud1 |
| MMRRC Submission |
038827-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.870)
|
| Stock # |
R0638 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
82297822-82427060 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 82301095 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 33
(T33I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146350
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039881]
[ENSMUST00000056728]
[ENSMUST00000126478]
[ENSMUST00000141726]
[ENSMUST00000179489]
[ENSMUST00000207868]
[ENSMUST00000207693]
|
| AlphaFold |
Q8C0D5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000039881
AA Change: T33I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000046046
Gene: ENSMUSG00000038563
AA Change: T33I
| 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: ENSMUST00000056728
|
| SMART Domains |
Protein: ENSMUSP00000057993
Gene: ENSMUSG00000038570
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:STOP
|
4 |
201 |
3.6e-42 |
PFAM |
|
Pfam:STOP
|
237 |
390 |
4.3e-13 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125245
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126478
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000141726
AA Change: T33I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000121909
Gene: ENSMUSG00000038563
AA Change: T33I
| 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 |
noncoding transcript
Transcript: ENSMUST00000151632
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156720
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000179489
AA Change: T33I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000137061
Gene: ENSMUSG00000038563
AA Change: T33I
| 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: T33I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207693
|
| Meta Mutation Damage Score |
0.7694 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.1%
- 20x: 93.5%
|
| Validation Efficiency |
99% (76/77) |
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932414N04Rik |
C |
A |
2: 68,547,572 (GRCm39) |
Q161K |
probably benign |
Het |
| Aatk |
A |
T |
11: 119,900,748 (GRCm39) |
L1216Q |
probably damaging |
Het |
| Aifm3 |
T |
C |
16: 17,321,535 (GRCm39) |
F463L |
possibly damaging |
Het |
| Antxr2 |
C |
T |
5: 98,108,496 (GRCm39) |
W338* |
probably null |
Het |
| Apc2 |
T |
C |
10: 80,140,801 (GRCm39) |
S219P |
probably damaging |
Het |
| Arfgap3 |
A |
T |
15: 83,192,389 (GRCm39) |
|
probably null |
Het |
| Arrdc5 |
A |
G |
17: 56,607,020 (GRCm39) |
V75A |
possibly damaging |
Het |
| Atg16l2 |
A |
T |
7: 100,949,317 (GRCm39) |
|
probably null |
Het |
| Cacna1i |
A |
G |
15: 80,265,281 (GRCm39) |
N1511S |
possibly damaging |
Het |
| Cad |
T |
C |
5: 31,235,032 (GRCm39) |
Y2095H |
probably damaging |
Het |
| Chia1 |
T |
C |
3: 106,035,753 (GRCm39) |
|
probably benign |
Het |
| Crybg2 |
A |
G |
4: 133,801,765 (GRCm39) |
D975G |
probably damaging |
Het |
| Dagla |
T |
C |
19: 10,232,247 (GRCm39) |
I480V |
probably damaging |
Het |
| Esp36 |
A |
G |
17: 38,728,060 (GRCm39) |
F74L |
probably benign |
Het |
| Faim |
T |
C |
9: 98,874,149 (GRCm39) |
|
probably benign |
Het |
| Fam83h |
G |
T |
15: 75,875,776 (GRCm39) |
H520Q |
probably benign |
Het |
| Fbn2 |
A |
T |
18: 58,178,446 (GRCm39) |
C1931S |
probably damaging |
Het |
| Frs3 |
A |
G |
17: 48,012,581 (GRCm39) |
D96G |
probably benign |
Het |
| Gbp4 |
A |
G |
5: 105,269,706 (GRCm39) |
M374T |
probably damaging |
Het |
| Gimap1 |
C |
T |
6: 48,718,359 (GRCm39) |
|
probably benign |
Het |
| Gm10010 |
A |
G |
6: 128,177,576 (GRCm39) |
|
noncoding transcript |
Het |
| Gm10355 |
T |
C |
3: 101,214,214 (GRCm39) |
|
noncoding transcript |
Het |
| Gmip |
C |
T |
8: 70,264,095 (GRCm39) |
|
probably benign |
Het |
| Gpc2 |
A |
T |
5: 138,276,796 (GRCm39) |
F110Y |
possibly damaging |
Het |
| Ifi44l |
C |
T |
3: 151,468,396 (GRCm39) |
V45M |
probably benign |
Het |
| Il15 |
T |
C |
8: 83,069,890 (GRCm39) |
E58G |
probably damaging |
Het |
| Kat2b |
T |
C |
17: 53,951,771 (GRCm39) |
|
probably benign |
Het |
| Kcnh7 |
C |
A |
2: 62,607,854 (GRCm39) |
V576L |
probably benign |
Het |
| Lrrc66 |
T |
A |
5: 73,772,816 (GRCm39) |
|
probably benign |
Het |
| Mical1 |
A |
G |
10: 41,358,235 (GRCm39) |
E416G |
probably benign |
Het |
| Mroh3 |
A |
G |
1: 136,118,740 (GRCm39) |
Y526H |
probably damaging |
Het |
| Mtx2 |
T |
C |
2: 74,699,634 (GRCm39) |
|
probably benign |
Het |
| Naip6 |
A |
T |
13: 100,437,036 (GRCm39) |
Y496N |
probably benign |
Het |
| Nfyc |
A |
G |
4: 120,626,081 (GRCm39) |
S73P |
probably benign |
Het |
| Or10v9 |
C |
T |
19: 11,832,487 (GRCm39) |
V277M |
probably damaging |
Het |
| Or10v9 |
A |
C |
19: 11,832,732 (GRCm39) |
V195G |
probably damaging |
Het |
| Or1e23 |
T |
A |
11: 73,407,750 (GRCm39) |
I92F |
probably damaging |
Het |
| Or5ak25 |
A |
G |
2: 85,268,845 (GRCm39) |
I219T |
probably benign |
Het |
| Or6c69b |
T |
A |
10: 129,627,101 (GRCm39) |
D119V |
probably damaging |
Het |
| P2ry14 |
A |
G |
3: 59,022,869 (GRCm39) |
V206A |
probably benign |
Het |
| Polg |
G |
A |
7: 79,109,896 (GRCm39) |
|
probably benign |
Het |
| Potefam1 |
T |
C |
2: 111,030,763 (GRCm39) |
E382G |
probably damaging |
Het |
| Ptgs1 |
G |
A |
2: 36,130,868 (GRCm39) |
|
probably benign |
Het |
| Pus7l |
A |
G |
15: 94,421,298 (GRCm39) |
S671P |
probably benign |
Het |
| Ralgapa2 |
T |
C |
2: 146,184,112 (GRCm39) |
T1547A |
probably benign |
Het |
| Rif1 |
T |
C |
2: 52,001,600 (GRCm39) |
S1685P |
probably benign |
Het |
| Rnf213 |
T |
C |
11: 119,361,036 (GRCm39) |
Y4452H |
probably damaging |
Het |
| Samd7 |
A |
G |
3: 30,810,670 (GRCm39) |
D229G |
probably benign |
Het |
| Serpina3j |
T |
C |
12: 104,281,078 (GRCm39) |
S84P |
possibly damaging |
Het |
| Slc35d1 |
A |
G |
4: 103,070,441 (GRCm39) |
|
probably benign |
Het |
| Sorbs2 |
A |
G |
8: 46,249,347 (GRCm39) |
D847G |
probably damaging |
Het |
| Sp110 |
A |
C |
1: 85,505,050 (GRCm39) |
F434C |
probably benign |
Het |
| Steap4 |
T |
C |
5: 8,027,030 (GRCm39) |
|
probably benign |
Het |
| Tg |
A |
C |
15: 66,589,057 (GRCm39) |
T13P |
probably damaging |
Het |
| Timeless |
T |
A |
10: 128,080,542 (GRCm39) |
Y474* |
probably null |
Het |
| Tmem94 |
T |
C |
11: 115,682,886 (GRCm39) |
|
probably null |
Het |
| Trdmt1 |
G |
A |
2: 13,521,459 (GRCm39) |
|
probably benign |
Het |
| Trim23 |
T |
C |
13: 104,337,817 (GRCm39) |
Y522H |
probably benign |
Het |
| Ttc13 |
A |
T |
8: 125,401,105 (GRCm39) |
S624T |
probably damaging |
Het |
| Txnl1 |
A |
G |
18: 63,825,135 (GRCm39) |
|
probably benign |
Het |
| Unkl |
T |
C |
17: 25,427,057 (GRCm39) |
|
probably benign |
Het |
| Usp54 |
T |
A |
14: 20,639,437 (GRCm39) |
|
probably benign |
Het |
| Vcam1 |
T |
C |
3: 115,910,908 (GRCm39) |
K497E |
possibly damaging |
Het |
| Vmn1r49 |
C |
A |
6: 90,049,648 (GRCm39) |
S118I |
possibly damaging |
Het |
| Vmn2r118 |
T |
C |
17: 55,915,466 (GRCm39) |
K495E |
probably benign |
Het |
| Wrnip1 |
G |
A |
13: 33,005,073 (GRCm39) |
C560Y |
possibly damaging |
Het |
| Xkr5 |
T |
C |
8: 18,983,563 (GRCm39) |
R660G |
probably benign |
Het |
| Zfp280c |
A |
G |
X: 47,637,580 (GRCm39) |
|
probably benign |
Het |
| Zfp707 |
G |
A |
15: 75,846,978 (GRCm39) |
A291T |
possibly 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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AATGTCAGCCAGGGTCACACAC -3'
(R):5'- TGAAGACTTGCGATCATGGAACAGC -3'
Sequencing Primer
(F):5'- TGATGGTTTACCCAGAATGCC -3'
(R):5'- CGCAATATGGAAGTGAGCTTTTCTC -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation