Incidental Mutation 'IGL02904:Efr3b'
| ID |
363756 |
| 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 # |
IGL02904
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
4012554-4088915 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 4034583 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 196
(I196L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106809
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111178]
[ENSMUST00000218166]
|
| AlphaFold |
Q6ZQ18 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111178
AA Change: I196L
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000106809
Gene: ENSMUSG00000020658
AA Change: I196L
| 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: I80L
PolyPhen 2
Score 0.391 (Sensitivity: 0.90; 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4833420G17Rik |
T |
C |
13: 119,620,990 (GRCm39) |
S564P |
probably damaging |
Het |
| A1cf |
A |
C |
19: 31,912,206 (GRCm39) |
K432N |
probably damaging |
Het |
| Acp7 |
A |
T |
7: 28,307,428 (GRCm39) |
D476E |
probably benign |
Het |
| Aqp9 |
T |
A |
9: 71,045,430 (GRCm39) |
I60F |
probably damaging |
Het |
| B2m |
A |
C |
2: 121,981,642 (GRCm39) |
|
probably benign |
Het |
| B3galt1 |
T |
A |
2: 67,949,089 (GRCm39) |
V268E |
probably damaging |
Het |
| Cacna1a |
T |
C |
8: 85,306,149 (GRCm39) |
L1299P |
probably damaging |
Het |
| Cemip2 |
G |
A |
19: 21,801,207 (GRCm39) |
D775N |
possibly damaging |
Het |
| Ces2e |
C |
T |
8: 105,657,970 (GRCm39) |
P356L |
probably benign |
Het |
| Crmp1 |
A |
T |
5: 37,446,262 (GRCm39) |
K639N |
possibly damaging |
Het |
| Ddx17 |
G |
A |
15: 79,414,638 (GRCm39) |
R510* |
probably null |
Het |
| Dner |
C |
T |
1: 84,512,665 (GRCm39) |
V301M |
probably damaging |
Het |
| Fat1 |
T |
C |
8: 45,493,719 (GRCm39) |
V3955A |
probably damaging |
Het |
| Gid4 |
T |
C |
11: 60,308,561 (GRCm39) |
I27T |
probably benign |
Het |
| Glis3 |
A |
G |
19: 28,335,352 (GRCm39) |
F571L |
possibly damaging |
Het |
| Gm4950 |
T |
C |
18: 51,998,803 (GRCm39) |
I51V |
probably benign |
Het |
| Gm5592 |
T |
C |
7: 40,937,810 (GRCm39) |
L364P |
probably damaging |
Het |
| Gucy2d |
G |
A |
7: 98,111,396 (GRCm39) |
|
probably null |
Het |
| Kpna6 |
A |
G |
4: 129,544,480 (GRCm39) |
I411T |
probably benign |
Het |
| Lcn11 |
A |
G |
2: 25,669,278 (GRCm39) |
D145G |
probably null |
Het |
| Lrrc37 |
A |
C |
11: 103,507,187 (GRCm39) |
|
probably benign |
Het |
| Med12 |
A |
G |
X: 100,337,784 (GRCm39) |
|
probably null |
Het |
| Mtor |
A |
G |
4: 148,536,851 (GRCm39) |
K42E |
possibly damaging |
Het |
| Mtor |
A |
G |
4: 148,576,069 (GRCm39) |
|
probably benign |
Het |
| Mybpc2 |
T |
C |
7: 44,171,765 (GRCm39) |
D55G |
probably benign |
Het |
| Myo1f |
T |
A |
17: 33,804,632 (GRCm39) |
C445* |
probably null |
Het |
| Naca |
C |
T |
10: 127,879,159 (GRCm39) |
|
probably benign |
Het |
| Nlgn2 |
T |
C |
11: 69,716,666 (GRCm39) |
Y625C |
possibly damaging |
Het |
| Nlrp9c |
A |
T |
7: 26,074,715 (GRCm39) |
C827S |
probably damaging |
Het |
| Nudt12 |
T |
A |
17: 59,317,347 (GRCm39) |
N100I |
probably benign |
Het |
| Or2t43 |
T |
A |
11: 58,457,623 (GRCm39) |
T183S |
possibly damaging |
Het |
| Or5g9 |
T |
C |
2: 85,552,099 (GRCm39) |
S117P |
probably damaging |
Het |
| Or7d10 |
A |
T |
9: 19,832,393 (GRCm39) |
D296V |
probably damaging |
Het |
| Or8s5 |
A |
T |
15: 98,238,729 (GRCm39) |
L31Q |
probably null |
Het |
| Picalm |
G |
A |
7: 89,825,619 (GRCm39) |
|
probably benign |
Het |
| Pkd1l1 |
A |
G |
11: 8,818,450 (GRCm39) |
|
probably benign |
Het |
| Scube3 |
T |
C |
17: 28,386,574 (GRCm39) |
V831A |
probably benign |
Het |
| Slco5a1 |
A |
G |
1: 12,991,321 (GRCm39) |
I456T |
probably damaging |
Het |
| Snx3 |
A |
G |
10: 42,410,690 (GRCm39) |
H110R |
probably damaging |
Het |
| Spef2 |
T |
C |
15: 9,679,432 (GRCm39) |
D635G |
probably damaging |
Het |
| St3gal5 |
A |
T |
6: 72,124,108 (GRCm39) |
I212L |
possibly damaging |
Het |
| Syvn1 |
T |
A |
19: 6,099,845 (GRCm39) |
Y192* |
probably null |
Het |
| Tmtc1 |
A |
G |
6: 148,150,980 (GRCm39) |
|
probably benign |
Het |
| Trappc14 |
C |
T |
5: 138,258,864 (GRCm39) |
V232I |
probably benign |
Het |
| Trip11 |
T |
G |
12: 101,853,097 (GRCm39) |
E499D |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,562,375 (GRCm39) |
N28823K |
probably damaging |
Het |
| Unc13c |
C |
A |
9: 73,388,349 (GRCm39) |
G2146* |
probably null |
Het |
| Ush2a |
G |
T |
1: 188,638,703 (GRCm39) |
V4038L |
probably benign |
Het |
| Zc3h7a |
T |
G |
16: 10,968,530 (GRCm39) |
D483A |
probably damaging |
Het |
| Zfyve19 |
T |
C |
2: 119,040,953 (GRCm39) |
|
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 |
|
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 |
|
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 |
2015-12-18 |
Incidental Mutation