Incidental Mutation 'R5956:Efl1'
ID |
471188 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Efl1
|
Ensembl Gene |
ENSMUSG00000038563 |
Gene Name |
elongation factor like GTPase 1 |
Synonyms |
D7Ertd791e, 6030468D11Rik, 4932434J20Rik, Eftud1 |
MMRRC Submission |
044144-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.878)
|
Stock # |
R5956 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
82297822-82427060 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 82301107 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 37
(D37G)
|
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: D37G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000046046 Gene: ENSMUSG00000038563 AA Change: D37G
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: D37G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000121909 Gene: ENSMUSG00000038563 AA Change: D37G
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: D37G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000137061 Gene: ENSMUSG00000038563 AA Change: D37G
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: D37G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000207693
|
Meta Mutation Damage Score |
0.9378 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.5%
|
Validation Efficiency |
98% (63/64) |
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
T |
A |
12: 71,203,893 (GRCm39) |
I398K |
possibly damaging |
Het |
Acad9 |
A |
G |
3: 36,129,323 (GRCm39) |
|
probably benign |
Het |
Acsm2 |
T |
C |
7: 119,153,704 (GRCm39) |
S5P |
unknown |
Het |
Akp3 |
T |
C |
1: 87,054,667 (GRCm39) |
I334T |
probably damaging |
Het |
Amy1 |
C |
T |
3: 113,357,311 (GRCm39) |
R176H |
probably benign |
Het |
Ank2 |
A |
T |
3: 126,736,337 (GRCm39) |
|
probably benign |
Het |
Cav1 |
C |
A |
6: 17,307,918 (GRCm39) |
N23K |
probably damaging |
Het |
Cep126 |
A |
G |
9: 8,112,120 (GRCm39) |
V151A |
probably benign |
Het |
Cnot1 |
A |
G |
8: 96,481,606 (GRCm39) |
|
probably null |
Het |
Crim1 |
T |
A |
17: 78,623,146 (GRCm39) |
V448E |
probably damaging |
Het |
Csmd3 |
T |
C |
15: 48,655,278 (GRCm39) |
E8G |
possibly damaging |
Het |
Ddx31 |
A |
T |
2: 28,764,185 (GRCm39) |
I464F |
probably damaging |
Het |
Ddx54 |
A |
G |
5: 120,764,432 (GRCm39) |
|
probably benign |
Het |
Dhx16 |
A |
G |
17: 36,193,762 (GRCm39) |
E319G |
probably damaging |
Het |
Epha5 |
T |
C |
5: 84,298,228 (GRCm39) |
R444G |
probably damaging |
Het |
Exoc2 |
C |
A |
13: 31,004,606 (GRCm39) |
C859F |
probably benign |
Het |
Gbx2 |
T |
C |
1: 89,860,908 (GRCm39) |
|
probably benign |
Het |
Gm12258 |
G |
A |
11: 58,750,285 (GRCm39) |
A9T |
probably benign |
Het |
Gpr141b |
T |
G |
13: 19,913,300 (GRCm39) |
|
noncoding transcript |
Het |
Grm4 |
A |
G |
17: 27,654,129 (GRCm39) |
V607A |
probably benign |
Het |
Gvin3 |
T |
C |
7: 106,200,677 (GRCm39) |
|
noncoding transcript |
Het |
Ighv1-74 |
C |
A |
12: 115,766,455 (GRCm39) |
W55L |
probably damaging |
Het |
Irx4 |
C |
A |
13: 73,415,626 (GRCm39) |
Y138* |
probably null |
Het |
Itpr1 |
C |
A |
6: 108,482,988 (GRCm39) |
T2352K |
probably benign |
Het |
Kcnk3 |
T |
G |
5: 30,745,854 (GRCm39) |
V65G |
probably damaging |
Het |
Mctp2 |
T |
C |
7: 71,908,923 (GRCm39) |
E130G |
probably benign |
Het |
Mgat5 |
C |
A |
1: 127,310,676 (GRCm39) |
R197S |
probably benign |
Het |
Mpg |
T |
C |
11: 32,177,951 (GRCm39) |
|
probably null |
Het |
Muc5b |
T |
C |
7: 141,417,910 (GRCm39) |
C3619R |
probably damaging |
Het |
Myo15b |
G |
A |
11: 115,764,583 (GRCm39) |
V1321I |
probably benign |
Het |
Myo1b |
T |
C |
1: 51,815,391 (GRCm39) |
T658A |
probably damaging |
Het |
Nomo1 |
T |
C |
7: 45,692,037 (GRCm39) |
S154P |
possibly damaging |
Het |
Nsd1 |
T |
A |
13: 55,411,217 (GRCm39) |
F1423I |
probably damaging |
Het |
Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
Or9g3 |
A |
G |
2: 85,584,183 (GRCm39) |
|
probably benign |
Het |
Osbpl6 |
A |
G |
2: 76,379,856 (GRCm39) |
R149G |
probably damaging |
Het |
Pacc1 |
A |
G |
1: 191,080,568 (GRCm39) |
S263G |
probably damaging |
Het |
Papola |
T |
A |
12: 105,777,300 (GRCm39) |
W281R |
probably damaging |
Het |
Pole |
C |
T |
5: 110,485,153 (GRCm39) |
|
probably benign |
Het |
Rptn |
A |
G |
3: 93,305,334 (GRCm39) |
N889S |
possibly damaging |
Het |
Scn10a |
A |
G |
9: 119,460,626 (GRCm39) |
S1084P |
probably damaging |
Het |
Scnm1 |
T |
C |
3: 95,037,596 (GRCm39) |
I157V |
probably benign |
Het |
Sertad2 |
G |
A |
11: 20,597,884 (GRCm39) |
G27S |
probably benign |
Het |
Siglece |
T |
C |
7: 43,308,760 (GRCm39) |
T198A |
probably damaging |
Het |
Sptb |
T |
A |
12: 76,650,942 (GRCm39) |
M1678L |
probably benign |
Het |
Taf8 |
A |
T |
17: 47,809,467 (GRCm39) |
M98K |
probably damaging |
Het |
Tead2 |
T |
A |
7: 44,870,138 (GRCm39) |
|
probably benign |
Het |
Trrap |
C |
T |
5: 144,744,201 (GRCm39) |
|
silent |
Het |
Ttn |
G |
T |
2: 76,775,914 (GRCm39) |
N1709K |
probably damaging |
Het |
Ube3a |
T |
C |
7: 58,926,768 (GRCm39) |
|
probably benign |
Het |
Ube3c |
T |
C |
5: 29,804,054 (GRCm39) |
|
probably benign |
Het |
Unc80 |
T |
C |
1: 66,567,123 (GRCm39) |
S910P |
probably damaging |
Het |
Usp30 |
G |
A |
5: 114,257,682 (GRCm39) |
R280Q |
possibly damaging |
Het |
Vsx1 |
T |
C |
2: 150,530,457 (GRCm39) |
S142G |
possibly damaging |
Het |
Wdr95 |
T |
G |
5: 149,517,947 (GRCm39) |
C360G |
probably benign |
Het |
Zbtb4 |
A |
G |
11: 69,669,040 (GRCm39) |
I588V |
probably benign |
Het |
Zdhhc4 |
A |
T |
5: 143,310,604 (GRCm39) |
|
probably benign |
Het |
Zfp568 |
C |
A |
7: 29,697,288 (GRCm39) |
N69K |
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 |
|
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'- ACTCTGTAAAGTCTGTCCCATC -3'
(R):5'- TGCAACAGAACGCAATATGG -3'
Sequencing Primer
(F):5'- TCTGTAAAGTCTGTCCCATCTTAAG -3'
(R):5'- AACTTAATGGGTTGTCAGTCCC -3'
|
Posted On |
2017-03-31 |