Incidental Mutation 'IGL02253:Efr3b'
| ID |
286513 |
| 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 # |
IGL02253
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
A |
G |
7: 119,807,182 (GRCm39) |
E76G |
probably benign |
Het |
| Adamtsl2 |
A |
T |
2: 26,988,709 (GRCm39) |
T587S |
possibly damaging |
Het |
| Adgre4 |
T |
A |
17: 56,067,573 (GRCm39) |
M9K |
probably benign |
Het |
| Aff2 |
T |
A |
X: 68,874,397 (GRCm39) |
V447E |
probably benign |
Het |
| Arhgef10l |
G |
T |
4: 140,271,595 (GRCm39) |
S425* |
probably null |
Het |
| Cabcoco1 |
T |
C |
10: 68,272,107 (GRCm39) |
|
probably null |
Het |
| Calcr |
T |
A |
6: 3,707,523 (GRCm39) |
H259L |
probably benign |
Het |
| Cdc42bpa |
T |
A |
1: 179,859,161 (GRCm39) |
|
probably benign |
Het |
| Cntnap5b |
C |
T |
1: 100,091,936 (GRCm39) |
H540Y |
possibly damaging |
Het |
| Cyp2a22 |
A |
T |
7: 26,637,662 (GRCm39) |
|
probably benign |
Het |
| Ddx3x |
T |
C |
X: 13,151,207 (GRCm39) |
|
probably benign |
Het |
| Dnajc11 |
T |
A |
4: 152,034,976 (GRCm39) |
Y28* |
probably null |
Het |
| Dock11 |
T |
C |
X: 35,304,781 (GRCm39) |
F1472S |
probably damaging |
Het |
| Dusp18 |
T |
C |
11: 3,847,576 (GRCm39) |
*189Q |
probably null |
Het |
| Dzip3 |
A |
T |
16: 48,765,287 (GRCm39) |
Y476N |
probably benign |
Het |
| Evc2 |
T |
A |
5: 37,535,771 (GRCm39) |
|
probably benign |
Het |
| Fam151b |
A |
T |
13: 92,614,435 (GRCm39) |
Y18N |
probably damaging |
Het |
| Gk5 |
T |
C |
9: 96,019,824 (GRCm39) |
F120S |
probably damaging |
Het |
| Itprid2 |
A |
G |
2: 79,490,788 (GRCm39) |
T969A |
probably damaging |
Het |
| Kcna3 |
T |
C |
3: 106,944,727 (GRCm39) |
L330P |
probably damaging |
Het |
| Kctd20 |
A |
G |
17: 29,180,460 (GRCm39) |
N7S |
probably benign |
Het |
| Kmt2b |
G |
T |
7: 30,281,152 (GRCm39) |
R1276S |
probably damaging |
Het |
| Kmt2d |
C |
T |
15: 98,756,056 (GRCm39) |
|
probably benign |
Het |
| L2hgdh |
G |
A |
12: 69,752,534 (GRCm39) |
|
probably benign |
Het |
| Lifr |
T |
G |
15: 7,220,085 (GRCm39) |
V905G |
probably damaging |
Het |
| Mcm3ap |
T |
A |
10: 76,305,899 (GRCm39) |
V4E |
probably benign |
Het |
| Nrip3 |
A |
C |
7: 109,360,951 (GRCm39) |
|
probably null |
Het |
| Nsun2 |
T |
G |
13: 69,767,658 (GRCm39) |
V204G |
possibly damaging |
Het |
| Nup54 |
A |
G |
5: 92,565,310 (GRCm39) |
|
probably null |
Het |
| Or5p69 |
T |
A |
7: 107,967,261 (GRCm39) |
V188E |
possibly damaging |
Het |
| Or8c16 |
T |
A |
9: 38,131,031 (GRCm39) |
M304K |
probably benign |
Het |
| Pdcl3 |
A |
G |
1: 39,034,011 (GRCm39) |
D51G |
probably benign |
Het |
| Pdlim1 |
T |
C |
19: 40,218,974 (GRCm39) |
E219G |
probably damaging |
Het |
| Pld4 |
A |
C |
12: 112,733,141 (GRCm39) |
K239T |
probably damaging |
Het |
| Rgsl1 |
T |
C |
1: 153,669,513 (GRCm39) |
Y291C |
probably damaging |
Het |
| Rnf213 |
C |
A |
11: 119,331,476 (GRCm39) |
H2228Q |
probably benign |
Het |
| Rnf222 |
T |
A |
11: 68,783,862 (GRCm39) |
I143N |
probably damaging |
Het |
| Sirt7 |
A |
G |
11: 120,511,693 (GRCm39) |
I13T |
probably benign |
Het |
| Slfn10-ps |
A |
G |
11: 82,919,890 (GRCm39) |
|
noncoding transcript |
Het |
| Slx4ip |
T |
C |
2: 136,842,195 (GRCm39) |
|
probably null |
Het |
| Spata18 |
G |
T |
5: 73,825,939 (GRCm39) |
S164I |
possibly damaging |
Het |
| Spmip2 |
C |
A |
3: 79,356,741 (GRCm39) |
|
probably benign |
Het |
| Spmip2 |
C |
A |
3: 79,356,742 (GRCm39) |
|
probably benign |
Het |
| Stk26 |
T |
C |
X: 49,975,565 (GRCm39) |
L212P |
probably damaging |
Het |
| Tmsb15a |
T |
C |
X: 134,620,451 (GRCm39) |
I56V |
probably benign |
Het |
| Tnrc6b |
T |
A |
15: 80,760,742 (GRCm39) |
S150T |
probably damaging |
Het |
| Tubb3 |
T |
C |
8: 124,147,559 (GRCm39) |
M164T |
probably benign |
Het |
| Zfp516 |
A |
G |
18: 83,012,622 (GRCm39) |
D1125G |
probably benign |
Het |
| Zyg11a |
A |
C |
4: 108,040,892 (GRCm39) |
V685G |
probably null |
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 |
|
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 |
|
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