Incidental Mutation 'IGL02390:Efr3b'
ID |
294225 |
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 # |
IGL02390
|
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca5 |
T |
C |
11: 110,187,377 (GRCm39) |
K894R |
probably benign |
Het |
Ampd1 |
C |
T |
3: 102,986,357 (GRCm39) |
A12V |
probably benign |
Het |
Ano4 |
T |
A |
10: 88,860,843 (GRCm39) |
D345V |
possibly damaging |
Het |
Arl6 |
A |
G |
16: 59,441,580 (GRCm39) |
|
probably null |
Het |
Atp2a3 |
C |
A |
11: 72,866,165 (GRCm39) |
H262N |
probably benign |
Het |
Atrn |
C |
T |
2: 130,862,897 (GRCm39) |
P1326S |
possibly damaging |
Het |
Btbd9 |
A |
G |
17: 30,743,788 (GRCm39) |
V238A |
probably benign |
Het |
Cdh16 |
T |
C |
8: 105,348,606 (GRCm39) |
T141A |
probably damaging |
Het |
Cetn4 |
T |
C |
3: 37,363,305 (GRCm39) |
D102G |
probably damaging |
Het |
Col5a3 |
T |
A |
9: 20,688,292 (GRCm39) |
N1256I |
unknown |
Het |
Cyfip2 |
A |
G |
11: 46,112,225 (GRCm39) |
F993L |
possibly damaging |
Het |
Dcaf6 |
T |
A |
1: 165,250,490 (GRCm39) |
I125F |
possibly damaging |
Het |
Dclk2 |
A |
C |
3: 86,731,990 (GRCm39) |
S336A |
probably damaging |
Het |
Dnah8 |
G |
A |
17: 31,049,819 (GRCm39) |
V4327I |
probably benign |
Het |
Ebna1bp2 |
T |
C |
4: 118,478,694 (GRCm39) |
V59A |
possibly damaging |
Het |
F2 |
A |
T |
2: 91,463,332 (GRCm39) |
V184D |
possibly damaging |
Het |
Fbxo38 |
C |
T |
18: 62,666,660 (GRCm39) |
R171H |
probably damaging |
Het |
Fhod3 |
A |
C |
18: 25,199,332 (GRCm39) |
S668R |
probably benign |
Het |
Fkbp10 |
T |
A |
11: 100,306,843 (GRCm39) |
F78L |
probably damaging |
Het |
Garre1 |
T |
C |
7: 33,947,643 (GRCm39) |
D455G |
probably damaging |
Het |
Hyi |
C |
T |
4: 118,219,810 (GRCm39) |
R254C |
probably benign |
Het |
Igfl3 |
A |
T |
7: 17,915,659 (GRCm39) |
|
probably benign |
Het |
Lgals9 |
T |
A |
11: 78,854,361 (GRCm39) |
I308F |
probably damaging |
Het |
Lrrc8a |
C |
A |
2: 30,146,713 (GRCm39) |
P509Q |
probably damaging |
Het |
Mapkap1 |
T |
A |
2: 34,322,101 (GRCm39) |
N6K |
probably damaging |
Het |
Mdh1b |
T |
A |
1: 63,760,716 (GRCm39) |
H115L |
probably benign |
Het |
Med17 |
G |
A |
9: 15,188,963 (GRCm39) |
R101* |
probably null |
Het |
Mrpl15 |
T |
C |
1: 4,855,837 (GRCm39) |
S22G |
probably benign |
Het |
Nf1 |
T |
C |
11: 79,456,761 (GRCm39) |
Y616H |
possibly damaging |
Het |
Nf1 |
T |
A |
11: 79,302,502 (GRCm39) |
|
probably benign |
Het |
Olig1 |
C |
A |
16: 91,067,041 (GRCm39) |
Q93K |
probably damaging |
Het |
Or13d1 |
T |
A |
4: 52,971,263 (GRCm39) |
I214N |
probably damaging |
Het |
Or1o1 |
A |
T |
17: 37,716,986 (GRCm39) |
L182F |
probably benign |
Het |
Or4f59 |
A |
T |
2: 111,873,056 (GRCm39) |
V107E |
possibly damaging |
Het |
Otoa |
C |
A |
7: 120,730,590 (GRCm39) |
L597M |
possibly damaging |
Het |
Parp16 |
C |
T |
9: 65,141,051 (GRCm39) |
P207L |
possibly damaging |
Het |
Pbrm1 |
T |
A |
14: 30,754,467 (GRCm39) |
D162E |
probably benign |
Het |
Pramel21 |
T |
A |
4: 143,341,895 (GRCm39) |
M108K |
probably benign |
Het |
Prdm10 |
A |
G |
9: 31,264,685 (GRCm39) |
I658V |
possibly damaging |
Het |
Psg21 |
A |
T |
7: 18,386,556 (GRCm39) |
H143Q |
probably benign |
Het |
Rfx4 |
C |
T |
10: 84,676,014 (GRCm39) |
R28W |
probably damaging |
Het |
Sart1 |
T |
G |
19: 5,430,489 (GRCm39) |
M753L |
possibly damaging |
Het |
Smcr8 |
T |
A |
11: 60,670,548 (GRCm39) |
D565E |
probably benign |
Het |
Smyd4 |
T |
A |
11: 75,278,332 (GRCm39) |
|
probably null |
Het |
Sned1 |
T |
C |
1: 93,189,386 (GRCm39) |
V274A |
probably benign |
Het |
Tbc1d13 |
T |
C |
2: 30,027,399 (GRCm39) |
|
probably benign |
Het |
Tox |
A |
T |
4: 6,697,534 (GRCm39) |
I423N |
possibly damaging |
Het |
Tsc2 |
A |
T |
17: 24,819,427 (GRCm39) |
V1232D |
probably damaging |
Het |
Uckl1 |
C |
T |
2: 181,216,212 (GRCm39) |
V178I |
possibly damaging |
Het |
Usp13 |
T |
A |
3: 32,985,865 (GRCm39) |
Y175* |
probably null |
Het |
Vwde |
A |
G |
6: 13,190,684 (GRCm39) |
V469A |
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 |
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 |
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 |