Incidental Mutation 'IGL02392:Efr3b'
ID |
294269 |
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 # |
IGL02392
|
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atp2a3 |
C |
A |
11: 72,866,165 (GRCm39) |
H262N |
probably benign |
Het |
C2cd6 |
T |
C |
1: 59,133,997 (GRCm39) |
N8S |
probably benign |
Het |
Cdh8 |
G |
A |
8: 99,757,387 (GRCm39) |
T737M |
probably damaging |
Het |
Celsr3 |
T |
C |
9: 108,711,920 (GRCm39) |
|
probably benign |
Het |
Cenph |
T |
A |
13: 100,909,269 (GRCm39) |
Q46L |
probably benign |
Het |
Dlg5 |
A |
G |
14: 24,200,277 (GRCm39) |
C1395R |
probably damaging |
Het |
Dnah8 |
C |
T |
17: 31,037,025 (GRCm39) |
|
probably benign |
Het |
Dolk |
T |
C |
2: 30,175,740 (GRCm39) |
N102D |
probably benign |
Het |
Farp2 |
G |
A |
1: 93,505,372 (GRCm39) |
R368Q |
probably damaging |
Het |
Fermt3 |
A |
T |
19: 6,996,183 (GRCm39) |
M4K |
probably benign |
Het |
Fndc8 |
A |
C |
11: 82,789,429 (GRCm39) |
T196P |
probably damaging |
Het |
Galc |
G |
A |
12: 98,173,672 (GRCm39) |
T630I |
probably damaging |
Het |
Gm21970 |
T |
G |
16: 91,211,545 (GRCm39) |
S128A |
possibly damaging |
Het |
Gpr146 |
T |
C |
5: 139,378,533 (GRCm39) |
S112P |
probably damaging |
Het |
Grip2 |
A |
G |
6: 91,764,276 (GRCm39) |
S51P |
probably damaging |
Het |
Htra2 |
G |
T |
6: 83,031,280 (GRCm39) |
T43N |
possibly damaging |
Het |
Lnpep |
T |
C |
17: 17,799,445 (GRCm39) |
Y70C |
possibly damaging |
Het |
Med17 |
G |
A |
9: 15,188,963 (GRCm39) |
R101* |
probably null |
Het |
Mtdh |
A |
T |
15: 34,099,723 (GRCm39) |
N158Y |
probably damaging |
Het |
Neo1 |
A |
T |
9: 58,833,094 (GRCm39) |
H550Q |
possibly damaging |
Het |
Or2h1b |
C |
T |
17: 37,461,979 (GRCm39) |
V295I |
probably benign |
Het |
Or5p57 |
A |
C |
7: 107,665,710 (GRCm39) |
F68L |
probably benign |
Het |
Pex1 |
C |
T |
5: 3,655,952 (GRCm39) |
Q260* |
probably null |
Het |
Pex6 |
T |
C |
17: 47,034,425 (GRCm39) |
V758A |
probably damaging |
Het |
Qsox1 |
T |
C |
1: 155,688,346 (GRCm39) |
E67G |
probably damaging |
Het |
Rimbp2 |
C |
T |
5: 128,848,861 (GRCm39) |
S895N |
probably benign |
Het |
Rnls |
A |
G |
19: 33,180,012 (GRCm39) |
V28A |
possibly damaging |
Het |
Spidr |
T |
C |
16: 15,707,494 (GRCm39) |
*934W |
probably null |
Het |
Spta1 |
A |
T |
1: 174,046,380 (GRCm39) |
M1654L |
probably damaging |
Het |
Srbd1 |
C |
A |
17: 86,295,801 (GRCm39) |
V870F |
probably benign |
Het |
Suco |
A |
T |
1: 161,662,136 (GRCm39) |
M765K |
probably benign |
Het |
Taok1 |
A |
G |
11: 77,440,178 (GRCm39) |
Y610H |
probably benign |
Het |
Thbs1 |
A |
G |
2: 117,945,141 (GRCm39) |
N238S |
probably benign |
Het |
Them7 |
T |
A |
2: 105,209,220 (GRCm39) |
L180* |
probably null |
Het |
Trim45 |
A |
G |
3: 100,832,621 (GRCm39) |
I285V |
probably benign |
Het |
Trim66 |
T |
C |
7: 109,059,481 (GRCm39) |
K921R |
probably benign |
Het |
Ttn |
A |
G |
2: 76,601,887 (GRCm39) |
S10265P |
probably damaging |
Het |
Vgll3 |
A |
T |
16: 65,612,556 (GRCm39) |
Y13F |
probably damaging |
Het |
Ylpm1 |
T |
A |
12: 85,061,731 (GRCm39) |
M544K |
unknown |
Het |
Ypel1 |
T |
C |
16: 16,906,702 (GRCm39) |
T500A |
probably benign |
Het |
Zmym1 |
T |
A |
4: 126,942,256 (GRCm39) |
S711C |
probably damaging |
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 |
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 |
IGL02532: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 |