Incidental Mutation 'IGL02494:Efr3b'
| ID |
295788 |
| 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 # |
IGL02494
|
| 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 |
|---|
| Aldob |
C |
T |
4: 49,541,138 (GRCm39) |
C178Y |
possibly damaging |
Het |
| Arg2 |
A |
G |
12: 79,198,697 (GRCm39) |
R242G |
probably benign |
Het |
| Ash1l |
T |
A |
3: 88,973,525 (GRCm39) |
L2528* |
probably null |
Het |
| Astn2 |
T |
A |
4: 65,910,585 (GRCm39) |
M468L |
probably benign |
Het |
| Bglap2 |
A |
T |
3: 88,285,243 (GRCm39) |
C74* |
probably null |
Het |
| Cand1 |
A |
G |
10: 119,049,522 (GRCm39) |
V408A |
probably benign |
Het |
| Ccdc14 |
A |
G |
16: 34,543,784 (GRCm39) |
Y714C |
probably damaging |
Het |
| Ccdc88c |
C |
T |
12: 100,911,734 (GRCm39) |
G707D |
probably benign |
Het |
| Cdk13 |
G |
A |
13: 17,913,710 (GRCm39) |
R890* |
probably null |
Het |
| Cep192 |
A |
G |
18: 67,937,453 (GRCm39) |
E61G |
probably benign |
Het |
| Ctdspl |
T |
C |
9: 118,866,484 (GRCm39) |
L181P |
probably damaging |
Het |
| Dock7 |
C |
T |
4: 98,877,471 (GRCm39) |
V442M |
probably benign |
Het |
| Dop1a |
T |
C |
9: 86,408,871 (GRCm39) |
V1860A |
probably damaging |
Het |
| Fscn2 |
G |
A |
11: 120,253,228 (GRCm39) |
V232M |
probably benign |
Het |
| Gemin5 |
A |
T |
11: 58,012,583 (GRCm39) |
C1458S |
probably benign |
Het |
| Glrb |
A |
G |
3: 80,752,539 (GRCm39) |
V408A |
probably benign |
Het |
| Gtse1 |
C |
T |
15: 85,751,704 (GRCm39) |
P299L |
probably damaging |
Het |
| Hcfc1r1 |
T |
A |
17: 23,893,559 (GRCm39) |
M46K |
probably damaging |
Het |
| Hdc |
A |
G |
2: 126,436,041 (GRCm39) |
F610S |
probably benign |
Het |
| Hip1 |
A |
T |
5: 135,473,645 (GRCm39) |
C224* |
probably null |
Het |
| Hsd17b10 |
G |
T |
X: 150,787,230 (GRCm39) |
A241S |
probably benign |
Het |
| Igsf10 |
G |
T |
3: 59,235,427 (GRCm39) |
Q1585K |
probably damaging |
Het |
| Kat2b |
T |
C |
17: 53,960,233 (GRCm39) |
Y514H |
probably damaging |
Het |
| Krt78 |
T |
C |
15: 101,862,486 (GRCm39) |
I58M |
probably benign |
Het |
| Lcat |
C |
A |
8: 106,668,571 (GRCm39) |
|
probably benign |
Het |
| Naca |
G |
A |
10: 127,877,179 (GRCm39) |
|
probably benign |
Het |
| Nbea |
T |
C |
3: 55,712,772 (GRCm39) |
K2102E |
probably benign |
Het |
| Ocrl |
G |
A |
X: 47,022,315 (GRCm39) |
D262N |
probably benign |
Het |
| Or1e35 |
A |
C |
11: 73,797,550 (GRCm39) |
I256S |
possibly damaging |
Het |
| Or4b1b |
G |
A |
2: 90,112,295 (GRCm39) |
S208F |
probably benign |
Het |
| Or4n4 |
A |
T |
14: 50,519,683 (GRCm39) |
V9D |
probably damaging |
Het |
| Or7c19 |
C |
A |
8: 85,957,312 (GRCm39) |
L63I |
possibly damaging |
Het |
| Patj |
T |
A |
4: 98,592,224 (GRCm39) |
|
probably benign |
Het |
| Pcdhb17 |
G |
A |
18: 37,618,347 (GRCm39) |
A46T |
possibly damaging |
Het |
| Phf8 |
T |
C |
X: 150,408,227 (GRCm39) |
V859A |
probably benign |
Het |
| Plec |
T |
A |
15: 76,060,979 (GRCm39) |
E3054V |
probably damaging |
Het |
| Prr12 |
C |
A |
7: 44,678,270 (GRCm39) |
K1958N |
unknown |
Het |
| Psmf1 |
A |
G |
2: 151,582,929 (GRCm39) |
|
probably null |
Het |
| Rsu1 |
T |
C |
2: 13,222,002 (GRCm39) |
|
probably null |
Het |
| Samm50 |
T |
C |
15: 84,080,015 (GRCm39) |
V31A |
probably benign |
Het |
| St14 |
A |
G |
9: 31,019,941 (GRCm39) |
V56A |
possibly damaging |
Het |
| Trpc1 |
T |
C |
9: 95,590,360 (GRCm39) |
N699S |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,574,144 (GRCm39) |
M25583K |
probably damaging |
Het |
| Utrn |
A |
G |
10: 12,585,798 (GRCm39) |
V993A |
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 |
|
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 |
Incidental Mutation