Incidental Mutation 'IGL02532:Efr3b'
ID |
297351 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Efr3b
|
Ensembl Gene |
ENSMUSG00000020658 |
Gene Name |
EFR3 homolog B |
Synonyms |
C030014M07Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02532
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
4012554-4088915 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 4033391 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 139
(V139I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151788
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111178]
[ENSMUST00000218166]
|
AlphaFold |
Q6ZQ18 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000111178
AA Change: V255I
PolyPhen 2
Score 0.362 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000106809 Gene: ENSMUSG00000020658 AA Change: V255I
Domain | Start | End | E-Value | Type |
SCOP:d1qbkb_
|
55 |
306 |
1e-3 |
SMART |
low complexity region
|
591 |
602 |
N/A |
INTRINSIC |
low complexity region
|
736 |
749 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217677
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000218166
AA Change: V139I
PolyPhen 2
Score 0.402 (Sensitivity: 0.89; Specificity: 0.89)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219797
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220181
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2200002D01Rik |
T |
C |
7: 28,947,645 (GRCm39) |
K15E |
possibly damaging |
Het |
Abca2 |
A |
G |
2: 25,325,148 (GRCm39) |
T381A |
probably benign |
Het |
Adcy1 |
T |
A |
11: 7,094,737 (GRCm39) |
N554K |
probably benign |
Het |
Adcy5 |
A |
G |
16: 35,092,453 (GRCm39) |
I605V |
possibly damaging |
Het |
Arhgap11a |
G |
T |
2: 113,664,021 (GRCm39) |
S754* |
probably null |
Het |
Arhgef28 |
T |
A |
13: 98,166,391 (GRCm39) |
D319V |
probably damaging |
Het |
Brca2 |
A |
G |
5: 150,474,327 (GRCm39) |
D2410G |
probably damaging |
Het |
Carmil2 |
T |
A |
8: 106,419,063 (GRCm39) |
|
probably null |
Het |
Catip |
A |
G |
1: 74,403,775 (GRCm39) |
N189S |
probably damaging |
Het |
Cd177 |
T |
C |
7: 24,444,674 (GRCm39) |
K636E |
probably benign |
Het |
Cep290 |
A |
G |
10: 100,380,927 (GRCm39) |
T145A |
probably benign |
Het |
Cthrc1 |
T |
C |
15: 38,940,560 (GRCm39) |
|
probably benign |
Het |
Fas |
C |
A |
19: 34,293,999 (GRCm39) |
T118N |
probably damaging |
Het |
Fgd3 |
G |
A |
13: 49,439,237 (GRCm39) |
A253V |
probably damaging |
Het |
Fig4 |
A |
G |
10: 41,161,277 (GRCm39) |
|
probably benign |
Het |
Fubp3 |
T |
C |
2: 31,490,571 (GRCm39) |
|
probably benign |
Het |
Gria2 |
T |
A |
3: 80,614,306 (GRCm39) |
E578V |
probably damaging |
Het |
Gtpbp1 |
T |
A |
15: 79,604,278 (GRCm39) |
V662E |
probably benign |
Het |
Hbb-bt |
T |
C |
7: 103,463,081 (GRCm39) |
|
probably benign |
Het |
Ighv6-5 |
T |
A |
12: 114,380,424 (GRCm39) |
D50V |
probably benign |
Het |
Inpp5k |
T |
C |
11: 75,524,010 (GRCm39) |
|
probably benign |
Het |
Kalrn |
T |
C |
16: 34,181,216 (GRCm39) |
N141D |
probably damaging |
Het |
Kbtbd8 |
A |
G |
6: 95,103,517 (GRCm39) |
T389A |
probably benign |
Het |
Klhl6 |
C |
A |
16: 19,775,832 (GRCm39) |
R242L |
possibly damaging |
Het |
Kmt2b |
T |
C |
7: 30,286,314 (GRCm39) |
|
probably benign |
Het |
Krt13 |
A |
T |
11: 100,010,195 (GRCm39) |
L262Q |
probably damaging |
Het |
Lingo2 |
T |
C |
4: 35,709,171 (GRCm39) |
K270E |
possibly damaging |
Het |
Mroh7 |
A |
G |
4: 106,577,788 (GRCm39) |
S297P |
probably benign |
Het |
Ndufs1 |
G |
A |
1: 63,209,298 (GRCm39) |
R22C |
probably damaging |
Het |
Nlrp5 |
T |
A |
7: 23,109,398 (GRCm39) |
S115T |
possibly damaging |
Het |
Nup50l |
A |
C |
6: 96,141,771 (GRCm39) |
S424R |
probably damaging |
Het |
Pfpl |
A |
T |
19: 12,406,209 (GRCm39) |
R153S |
probably damaging |
Het |
Pkhd1 |
T |
A |
1: 20,187,944 (GRCm39) |
I3455F |
probably damaging |
Het |
Psme1 |
T |
A |
14: 55,818,595 (GRCm39) |
Y223* |
probably null |
Het |
R3hdm1 |
T |
C |
1: 128,124,836 (GRCm39) |
|
probably null |
Het |
Rnf103 |
A |
G |
6: 71,486,809 (GRCm39) |
D480G |
probably benign |
Het |
Rnf103 |
T |
G |
6: 71,486,636 (GRCm39) |
S422R |
probably damaging |
Het |
Rps6ka2 |
T |
C |
17: 7,523,365 (GRCm39) |
V213A |
probably damaging |
Het |
Sort1 |
G |
T |
3: 108,233,036 (GRCm39) |
K203N |
probably benign |
Het |
Sugp1 |
A |
T |
8: 70,512,469 (GRCm39) |
K239N |
possibly damaging |
Het |
Sult2a8 |
C |
T |
7: 14,150,183 (GRCm39) |
R176K |
probably benign |
Het |
Usp34 |
T |
A |
11: 23,320,291 (GRCm39) |
N888K |
probably damaging |
Het |
Vmn1r4 |
A |
C |
6: 56,934,135 (GRCm39) |
H213P |
possibly damaging |
Het |
Wdr45b |
G |
T |
11: 121,219,639 (GRCm39) |
T303K |
probably benign |
Het |
|
Other mutations in Efr3b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00990:Efr3b
|
APN |
12 |
4,025,411 (GRCm39) |
nonsense |
probably null |
|
IGL01288:Efr3b
|
APN |
12 |
4,032,865 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01467:Efr3b
|
APN |
12 |
4,019,597 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01964:Efr3b
|
APN |
12 |
4,032,928 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02253:Efr3b
|
APN |
12 |
4,033,391 (GRCm39) |
missense |
probably benign |
0.40 |
IGL02329:Efr3b
|
APN |
12 |
4,042,923 (GRCm39) |
splice site |
probably null |
|
IGL02365:Efr3b
|
APN |
12 |
4,033,391 (GRCm39) |
missense |
probably benign |
0.40 |
IGL02373:Efr3b
|
APN |
12 |
4,033,391 (GRCm39) |
missense |
probably benign |
0.40 |
IGL02390:Efr3b
|
APN |
12 |
4,033,391 (GRCm39) |
missense |
probably benign |
0.40 |
IGL02392:Efr3b
|
APN |
12 |
4,033,391 (GRCm39) |
missense |
probably benign |
0.40 |
IGL02494:Efr3b
|
APN |
12 |
4,033,391 (GRCm39) |
missense |
probably benign |
0.40 |
IGL02496:Efr3b
|
APN |
12 |
4,033,391 (GRCm39) |
missense |
probably benign |
0.40 |
IGL02501:Efr3b
|
APN |
12 |
4,033,391 (GRCm39) |
missense |
probably benign |
0.40 |
IGL02529:Efr3b
|
APN |
12 |
4,033,391 (GRCm39) |
missense |
probably benign |
0.40 |
IGL02530:Efr3b
|
APN |
12 |
4,033,391 (GRCm39) |
missense |
probably benign |
0.40 |
IGL02699:Efr3b
|
APN |
12 |
4,033,391 (GRCm39) |
missense |
probably benign |
0.40 |
IGL02716:Efr3b
|
APN |
12 |
4,034,627 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02904:Efr3b
|
APN |
12 |
4,034,583 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02986:Efr3b
|
APN |
12 |
4,016,495 (GRCm39) |
missense |
probably benign |
0.13 |
IGL03171:Efr3b
|
APN |
12 |
4,018,622 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03346:Efr3b
|
APN |
12 |
4,034,648 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4418001:Efr3b
|
UTSW |
12 |
4,030,490 (GRCm39) |
missense |
possibly damaging |
0.64 |
R0017:Efr3b
|
UTSW |
12 |
4,043,003 (GRCm39) |
missense |
probably damaging |
0.98 |
R0189:Efr3b
|
UTSW |
12 |
4,032,925 (GRCm39) |
missense |
probably damaging |
1.00 |
R0361:Efr3b
|
UTSW |
12 |
4,027,923 (GRCm39) |
missense |
probably benign |
0.00 |
R0469:Efr3b
|
UTSW |
12 |
4,032,058 (GRCm39) |
missense |
probably benign |
0.02 |
R0510:Efr3b
|
UTSW |
12 |
4,032,058 (GRCm39) |
missense |
probably benign |
0.02 |
R0782:Efr3b
|
UTSW |
12 |
4,034,686 (GRCm39) |
splice site |
probably benign |
|
R2042:Efr3b
|
UTSW |
12 |
4,034,627 (GRCm39) |
missense |
probably damaging |
1.00 |
R2359:Efr3b
|
UTSW |
12 |
4,030,136 (GRCm39) |
unclassified |
probably benign |
|
R3691:Efr3b
|
UTSW |
12 |
4,032,059 (GRCm39) |
missense |
possibly damaging |
0.84 |
R3849:Efr3b
|
UTSW |
12 |
4,033,414 (GRCm39) |
missense |
probably benign |
0.40 |
R5384:Efr3b
|
UTSW |
12 |
4,033,419 (GRCm39) |
missense |
probably benign |
0.04 |
R5819:Efr3b
|
UTSW |
12 |
4,042,965 (GRCm39) |
missense |
probably benign |
0.21 |
R5970:Efr3b
|
UTSW |
12 |
4,018,590 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6031:Efr3b
|
UTSW |
12 |
4,017,106 (GRCm39) |
missense |
possibly damaging |
0.90 |
R6031:Efr3b
|
UTSW |
12 |
4,017,106 (GRCm39) |
missense |
possibly damaging |
0.90 |
R6759:Efr3b
|
UTSW |
12 |
4,034,613 (GRCm39) |
missense |
probably damaging |
1.00 |
R6969:Efr3b
|
UTSW |
12 |
4,018,624 (GRCm39) |
missense |
probably benign |
0.08 |
R7392:Efr3b
|
UTSW |
12 |
4,019,588 (GRCm39) |
missense |
probably benign |
|
R7717:Efr3b
|
UTSW |
12 |
4,034,574 (GRCm39) |
missense |
probably damaging |
1.00 |
R8071:Efr3b
|
UTSW |
12 |
4,032,898 (GRCm39) |
missense |
probably benign |
0.02 |
R8686:Efr3b
|
UTSW |
12 |
4,050,886 (GRCm39) |
missense |
probably damaging |
1.00 |
R8737:Efr3b
|
UTSW |
12 |
4,049,594 (GRCm39) |
missense |
probably damaging |
1.00 |
R8942:Efr3b
|
UTSW |
12 |
4,032,091 (GRCm39) |
missense |
possibly damaging |
0.74 |
R9105:Efr3b
|
UTSW |
12 |
4,031,782 (GRCm39) |
missense |
probably damaging |
1.00 |
R9345:Efr3b
|
UTSW |
12 |
4,033,409 (GRCm39) |
nonsense |
probably null |
|
|
Posted On |
2015-04-16 |