Incidental Mutation 'R1290:Efl1'
| ID |
150758 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Efl1
|
| Ensembl Gene |
ENSMUSG00000038563 |
| Gene Name |
elongation factor like GPTase 1 |
| Synonyms |
6030468D11Rik, 4932434J20Rik, D7Ertd791e, Eftud1 |
| MMRRC Submission |
039356-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.843)
|
| Stock # |
R1290 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
82648614-82777852 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 82671728 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 123
(V123A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137061
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039881]
[ENSMUST00000141726]
[ENSMUST00000179489]
|
| AlphaFold |
Q8C0D5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000039881
AA Change: V123A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000046046
Gene: ENSMUSG00000038563
AA Change: V123A
| 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 damaging
Transcript: ENSMUST00000141726
AA Change: V123A
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000121909
Gene: ENSMUSG00000038563
AA Change: V123A
| 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: ENSMUST00000153265
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000179489
AA Change: V123A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000137061
Gene: ENSMUSG00000038563
AA Change: V123A
| 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: 97.0%
- 20x: 94.8%
|
| 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: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arfrp1 |
C |
T |
2: 181,364,604 |
|
probably null |
Het |
| Borcs5 |
A |
G |
6: 134,644,368 |
D34G |
possibly damaging |
Het |
| Dync1h1 |
G |
A |
12: 110,636,509 |
E2195K |
probably benign |
Het |
| Exd2 |
T |
A |
12: 80,484,326 |
L99Q |
probably benign |
Het |
| Fnip2 |
T |
C |
3: 79,465,693 |
D1026G |
probably damaging |
Het |
| Gprin3 |
A |
G |
6: 59,354,464 |
F286S |
possibly damaging |
Het |
| Gramd1b |
A |
G |
9: 40,316,821 |
|
probably null |
Het |
| Ints1 |
A |
T |
5: 139,771,410 |
L417* |
probably null |
Het |
| Iqgap2 |
A |
T |
13: 95,668,513 |
V845E |
probably damaging |
Het |
| Kcnh3 |
G |
A |
15: 99,227,120 |
|
probably null |
Het |
| Mbd1 |
T |
C |
18: 74,269,486 |
S20P |
possibly damaging |
Het |
| Mef2c |
A |
T |
13: 83,662,359 |
T375S |
probably benign |
Het |
| Mmp16 |
A |
T |
4: 18,051,725 |
N238I |
probably damaging |
Het |
| Neurod2 |
A |
T |
11: 98,327,288 |
V350E |
possibly damaging |
Het |
| P3h2 |
C |
T |
16: 25,987,203 |
E297K |
probably damaging |
Het |
| Pcdhb1 |
A |
G |
18: 37,265,230 |
H78R |
possibly damaging |
Het |
| Slc22a14 |
A |
C |
9: 119,178,452 |
L297R |
probably damaging |
Het |
| Slc22a8 |
G |
A |
19: 8,609,911 |
G445D |
probably damaging |
Het |
| Spink5 |
A |
G |
18: 44,007,711 |
D659G |
probably damaging |
Het |
| St6gal1 |
A |
G |
16: 23,321,661 |
Q194R |
probably benign |
Het |
| Tas2r104 |
A |
T |
6: 131,684,845 |
C300* |
probably null |
Het |
| Ttc6 |
G |
A |
12: 57,660,413 |
S702N |
probably benign |
Het |
| Wnk4 |
C |
G |
11: 101,276,340 |
|
probably benign |
Het |
| Zfyve28 |
A |
T |
5: 34,198,801 |
D785E |
probably benign |
Het |
|
| Other mutations in Efl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00541:Efl1
|
APN |
7 |
82658111 |
missense |
probably damaging |
1.00 |
|
IGL00696:Efl1
|
APN |
7 |
82651872 |
splice site |
probably benign |
|
|
IGL01344:Efl1
|
APN |
7 |
82681480 |
splice site |
probably benign |
|
|
IGL01871:Efl1
|
APN |
7 |
82763319 |
missense |
possibly damaging |
0.64 |
|
IGL01941:Efl1
|
APN |
7 |
82697976 |
missense |
probably benign |
0.17 |
|
IGL02104:Efl1
|
APN |
7 |
82658055 |
critical splice acceptor site |
probably null |
|
|
IGL02150:Efl1
|
APN |
7 |
82686691 |
missense |
probably benign |
|
|
IGL02484:Efl1
|
APN |
7 |
82683039 |
missense |
probably damaging |
0.98 |
|
IGL03140:Efl1
|
APN |
7 |
82692881 |
missense |
probably benign |
0.00 |
|
IGL03188:Efl1
|
APN |
7 |
82671701 |
missense |
probably damaging |
1.00 |
|
IGL03014:Efl1
|
UTSW |
7 |
82651886 |
missense |
probably damaging |
1.00 |
|
PIT4469001:Efl1
|
UTSW |
7 |
82658165 |
missense |
probably benign |
0.14 |
|
R0148:Efl1
|
UTSW |
7 |
82671670 |
missense |
probably damaging |
1.00 |
|
R0226:Efl1
|
UTSW |
7 |
82693011 |
splice site |
probably benign |
|
|
R0638:Efl1
|
UTSW |
7 |
82651887 |
missense |
probably damaging |
1.00 |
|
R0684:Efl1
|
UTSW |
7 |
82651886 |
missense |
probably damaging |
1.00 |
|
R1018:Efl1
|
UTSW |
7 |
82763013 |
missense |
possibly damaging |
0.94 |
|
R1720:Efl1
|
UTSW |
7 |
82683721 |
missense |
possibly damaging |
0.50 |
|
R1933:Efl1
|
UTSW |
7 |
82763117 |
nonsense |
probably null |
|
|
R1973:Efl1
|
UTSW |
7 |
82762877 |
missense |
probably damaging |
1.00 |
|
R2016:Efl1
|
UTSW |
7 |
82753709 |
missense |
probably damaging |
1.00 |
|
R2124:Efl1
|
UTSW |
7 |
82692913 |
missense |
probably damaging |
1.00 |
|
R2290:Efl1
|
UTSW |
7 |
82777670 |
missense |
probably damaging |
1.00 |
|
R2415:Efl1
|
UTSW |
7 |
82697967 |
missense |
probably damaging |
1.00 |
|
R3545:Efl1
|
UTSW |
7 |
82762810 |
missense |
probably benign |
0.00 |
|
R3688:Efl1
|
UTSW |
7 |
82762970 |
missense |
probably benign |
0.00 |
|
R4092:Efl1
|
UTSW |
7 |
82762827 |
missense |
probably benign |
0.00 |
|
R4207:Efl1
|
UTSW |
7 |
82750816 |
missense |
probably damaging |
0.98 |
|
R4347:Efl1
|
UTSW |
7 |
82697966 |
missense |
probably damaging |
1.00 |
|
R4425:Efl1
|
UTSW |
7 |
82763283 |
missense |
probably damaging |
0.99 |
|
R4816:Efl1
|
UTSW |
7 |
82671719 |
missense |
probably damaging |
1.00 |
|
R4858:Efl1
|
UTSW |
7 |
82671627 |
missense |
probably damaging |
1.00 |
|
R5077:Efl1
|
UTSW |
7 |
82658087 |
missense |
probably damaging |
1.00 |
|
R5185:Efl1
|
UTSW |
7 |
82772499 |
missense |
probably damaging |
1.00 |
|
R5319:Efl1
|
UTSW |
7 |
82674506 |
missense |
probably damaging |
1.00 |
|
R5771:Efl1
|
UTSW |
7 |
82692524 |
missense |
probably benign |
0.26 |
|
R5857:Efl1
|
UTSW |
7 |
82763189 |
missense |
probably benign |
|
|
R5956:Efl1
|
UTSW |
7 |
82651899 |
missense |
probably damaging |
1.00 |
|
R6433:Efl1
|
UTSW |
7 |
82674568 |
missense |
probably damaging |
1.00 |
|
R7131:Efl1
|
UTSW |
7 |
82658064 |
missense |
probably damaging |
1.00 |
|
R7143:Efl1
|
UTSW |
7 |
82762680 |
missense |
probably damaging |
1.00 |
|
R7312:Efl1
|
UTSW |
7 |
82681444 |
missense |
probably benign |
0.10 |
|
R7409:Efl1
|
UTSW |
7 |
82697913 |
missense |
probably damaging |
0.98 |
|
R7422:Efl1
|
UTSW |
7 |
82681379 |
missense |
probably damaging |
1.00 |
|
R7453:Efl1
|
UTSW |
7 |
82681467 |
missense |
possibly damaging |
0.76 |
|
R7504:Efl1
|
UTSW |
7 |
82683049 |
missense |
probably damaging |
1.00 |
|
R7884:Efl1
|
UTSW |
7 |
82658099 |
missense |
probably damaging |
1.00 |
|
R7969:Efl1
|
UTSW |
7 |
82692970 |
missense |
probably benign |
0.03 |
|
R8394:Efl1
|
UTSW |
7 |
82762778 |
missense |
probably benign |
0.00 |
|
R8702:Efl1
|
UTSW |
7 |
82750790 |
critical splice acceptor site |
probably null |
|
|
R8924:Efl1
|
UTSW |
7 |
82762953 |
missense |
probably benign |
0.03 |
|
R9463:Efl1
|
UTSW |
7 |
82777525 |
missense |
probably damaging |
1.00 |
|
R9762:Efl1
|
UTSW |
7 |
82763388 |
missense |
probably benign |
0.09 |
|
Z1088:Efl1
|
UTSW |
7 |
82692850 |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTCTGCCCAGCTATAAATGTGTCTTC -3'
(R):5'- CCGGCCTTAATGGAAAATTCTTCCAAC -3'
Sequencing Primer
(F):5'- AACAGCGGTTCGCATTTG -3'
(R):5'- CTTTTGTGAGACTAGAAACACTGGG -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation