Incidental Mutation 'R2290:Efl1'
| ID |
244268 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Efl1
|
| Ensembl Gene |
ENSMUSG00000038563 |
| Gene Name |
elongation factor like GTPase 1 |
| Synonyms |
D7Ertd791e, 6030468D11Rik, 4932434J20Rik, Eftud1 |
| MMRRC Submission |
040289-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.878)
|
| Stock # |
R2290 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
82297822-82427060 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 82426878 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 1125
(K1125N)
|
| 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: K1125N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000046046
Gene: ENSMUSG00000038563
AA Change: K1125N
| 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: K1125N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000137061
Gene: ENSMUSG00000038563
AA Change: K1125N
| 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 |
0.0723 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
100% (73/73) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh1l2 |
T |
C |
10: 83,363,177 (GRCm39) |
D62G |
probably damaging |
Het |
| Ambp |
T |
C |
4: 63,061,924 (GRCm39) |
Y335C |
probably damaging |
Het |
| Arid4a |
G |
T |
12: 71,108,315 (GRCm39) |
G40V |
probably damaging |
Het |
| Asb13 |
G |
A |
13: 3,699,418 (GRCm39) |
G206D |
probably damaging |
Het |
| Ccdc7b |
A |
G |
8: 129,857,587 (GRCm39) |
|
probably benign |
Het |
| Cdh15 |
A |
T |
8: 123,586,056 (GRCm39) |
N145I |
probably damaging |
Het |
| Celsr3 |
T |
C |
9: 108,720,423 (GRCm39) |
I2565T |
probably damaging |
Het |
| Cfap43 |
A |
T |
19: 47,761,574 (GRCm39) |
M840K |
probably damaging |
Het |
| Clip4 |
T |
C |
17: 72,117,948 (GRCm39) |
V331A |
possibly damaging |
Het |
| Cnnm1 |
A |
G |
19: 43,479,941 (GRCm39) |
T829A |
probably benign |
Het |
| Col24a1 |
G |
A |
3: 145,218,950 (GRCm39) |
G1457E |
probably damaging |
Het |
| D6Ertd527e |
A |
G |
6: 87,088,527 (GRCm39) |
N230S |
unknown |
Het |
| Dll1 |
T |
C |
17: 15,595,010 (GRCm39) |
D89G |
probably benign |
Het |
| Dst |
T |
A |
1: 34,268,281 (GRCm39) |
V2901E |
probably damaging |
Het |
| Dvl1 |
G |
A |
4: 155,932,273 (GRCm39) |
V28I |
possibly damaging |
Het |
| Efr3a |
T |
A |
15: 65,721,688 (GRCm39) |
F437L |
probably benign |
Het |
| Eqtn |
GTTCTTCTTC |
GTTCTTC |
4: 94,815,179 (GRCm39) |
|
probably benign |
Het |
| Ermp1 |
T |
C |
19: 29,601,178 (GRCm39) |
D523G |
probably damaging |
Het |
| Gm38999 |
A |
G |
7: 43,077,123 (GRCm39) |
E5G |
probably benign |
Het |
| Gm5828 |
C |
T |
1: 16,838,568 (GRCm39) |
|
noncoding transcript |
Het |
| Gnas |
T |
C |
2: 174,141,803 (GRCm39) |
F717L |
probably benign |
Het |
| H6pd |
T |
A |
4: 150,066,338 (GRCm39) |
S683C |
probably damaging |
Het |
| Il23r |
G |
A |
6: 67,400,845 (GRCm39) |
T495I |
probably benign |
Het |
| Itpr2 |
T |
C |
6: 146,324,326 (GRCm39) |
N135D |
probably damaging |
Het |
| Kcns2 |
T |
A |
15: 34,838,655 (GRCm39) |
L6Q |
possibly damaging |
Het |
| Khdrbs3 |
C |
T |
15: 68,901,610 (GRCm39) |
R132C |
probably damaging |
Het |
| Kif2b |
A |
G |
11: 91,466,522 (GRCm39) |
V587A |
probably benign |
Het |
| Kng1 |
A |
T |
16: 22,897,875 (GRCm39) |
H425L |
possibly damaging |
Het |
| Letm1 |
A |
AG |
5: 33,926,859 (GRCm39) |
|
probably null |
Het |
| Lrrc8e |
T |
C |
8: 4,281,770 (GRCm39) |
M35T |
probably damaging |
Het |
| Med12l |
A |
G |
3: 59,152,359 (GRCm39) |
N1048S |
probably damaging |
Het |
| Mex3c |
A |
C |
18: 73,723,764 (GRCm39) |
N619T |
probably damaging |
Het |
| Mfsd4b1 |
G |
A |
10: 39,879,327 (GRCm39) |
T190I |
probably damaging |
Het |
| Ncam1 |
A |
G |
9: 49,434,951 (GRCm39) |
|
probably benign |
Het |
| Nlrp6 |
G |
A |
7: 140,502,076 (GRCm39) |
G133S |
probably damaging |
Het |
| Oplah |
A |
G |
15: 76,186,925 (GRCm39) |
V630A |
probably benign |
Het |
| Or1e26 |
G |
T |
11: 73,479,745 (GRCm39) |
A273D |
probably benign |
Het |
| Or2y1 |
A |
G |
11: 49,385,857 (GRCm39) |
M166V |
probably benign |
Het |
| Or5ak24 |
C |
T |
2: 85,260,544 (GRCm39) |
V210M |
possibly damaging |
Het |
| Or8g36 |
A |
G |
9: 39,422,974 (GRCm39) |
L14P |
possibly damaging |
Het |
| Pcnx2 |
A |
T |
8: 126,604,334 (GRCm39) |
|
probably benign |
Het |
| Pkhd1l1 |
A |
T |
15: 44,391,646 (GRCm39) |
T1571S |
probably benign |
Het |
| Pramel13 |
T |
A |
4: 144,121,269 (GRCm39) |
T252S |
probably benign |
Het |
| Pramel13 |
G |
T |
4: 144,121,692 (GRCm39) |
H111N |
probably benign |
Het |
| Prr22 |
T |
G |
17: 57,078,884 (GRCm39) |
F346V |
probably benign |
Het |
| Prr30 |
T |
C |
14: 101,436,211 (GRCm39) |
N117S |
possibly damaging |
Het |
| Ptgfrn |
A |
G |
3: 100,984,677 (GRCm39) |
S172P |
possibly damaging |
Het |
| Ptprc |
C |
T |
1: 138,038,926 (GRCm39) |
V364I |
probably benign |
Het |
| Ptprz1 |
T |
C |
6: 23,000,990 (GRCm39) |
S1027P |
probably damaging |
Het |
| Rinl |
T |
C |
7: 28,491,696 (GRCm39) |
V83A |
probably benign |
Het |
| Ros1 |
A |
T |
10: 51,994,477 (GRCm39) |
S1268T |
probably damaging |
Het |
| Scly |
T |
C |
1: 91,226,172 (GRCm39) |
|
probably null |
Het |
| Slc25a1 |
C |
T |
16: 17,743,712 (GRCm39) |
V186M |
possibly damaging |
Het |
| Stk36 |
T |
G |
1: 74,665,303 (GRCm39) |
|
probably benign |
Het |
| Syn2 |
A |
G |
6: 115,251,190 (GRCm39) |
T449A |
possibly damaging |
Het |
| Tecpr1 |
T |
C |
5: 144,150,881 (GRCm39) |
D309G |
probably damaging |
Het |
| Tent4b |
T |
C |
8: 88,978,603 (GRCm39) |
S435P |
probably damaging |
Het |
| Tns2 |
T |
A |
15: 102,020,458 (GRCm39) |
Y775N |
probably damaging |
Het |
| Tril |
G |
T |
6: 53,795,012 (GRCm39) |
R737S |
probably damaging |
Het |
| Ttl |
G |
A |
2: 128,923,190 (GRCm39) |
G177D |
possibly damaging |
Het |
| Twf1 |
A |
G |
15: 94,484,400 (GRCm39) |
S41P |
probably damaging |
Het |
| Unc79 |
C |
T |
12: 103,112,625 (GRCm39) |
T2174M |
probably damaging |
Het |
| Vangl2 |
T |
A |
1: 171,836,113 (GRCm39) |
K340* |
probably null |
Het |
| Vmn2r72 |
T |
A |
7: 85,387,549 (GRCm39) |
T672S |
probably damaging |
Het |
| Vwa7 |
A |
G |
17: 35,236,187 (GRCm39) |
D47G |
probably damaging |
Het |
| Zc3h12d |
A |
G |
10: 7,743,223 (GRCm39) |
H331R |
probably benign |
Het |
| Zfa-ps |
T |
C |
10: 52,421,112 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp141 |
A |
T |
7: 42,124,649 (GRCm39) |
C608S |
probably damaging |
Het |
| Zfp422 |
A |
G |
6: 116,603,603 (GRCm39) |
I132T |
possibly damaging |
Het |
| Zfp652 |
A |
G |
11: 95,640,849 (GRCm39) |
Y258C |
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 |
|
|
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 |
|
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'- TACAAGGTCATTCCCAGCG -3'
(R):5'- GTGATCAACTCCGTGAAACAG -3'
Sequencing Primer
(F):5'- TCATTCCCAGCGACCCG -3'
(R):5'- CAAACGGTTTGGAAGTTATGTTCTC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation