Incidental Mutation 'IGL03171:Efr3b'
| ID |
411823 |
| 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 # |
IGL03171
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
4012554-4088915 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 4018622 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 575
(A575T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151788
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111178]
[ENSMUST00000218166]
[ENSMUST00000219331]
|
| AlphaFold |
Q6ZQ18 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111178
AA Change: A735T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000106809
Gene: ENSMUSG00000020658
AA Change: A735T
| 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 |
probably benign
Transcript: ENSMUST00000218166
AA Change: A575T
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219331
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700003E16Rik |
T |
A |
6: 83,139,377 (GRCm39) |
F434Y |
possibly damaging |
Het |
| Adam19 |
G |
T |
11: 46,029,681 (GRCm39) |
A709S |
probably damaging |
Het |
| Adgrf3 |
A |
T |
5: 30,401,292 (GRCm39) |
L42Q |
probably damaging |
Het |
| D430041D05Rik |
T |
C |
2: 104,071,508 (GRCm39) |
N1264S |
possibly damaging |
Het |
| Dnah9 |
T |
G |
11: 65,872,067 (GRCm39) |
K2721T |
probably benign |
Het |
| Esco1 |
T |
C |
18: 10,594,263 (GRCm39) |
E341G |
probably damaging |
Het |
| Ezh2 |
G |
A |
6: 47,517,715 (GRCm39) |
R574* |
probably null |
Het |
| Fam169a |
G |
T |
13: 97,246,522 (GRCm39) |
|
probably benign |
Het |
| Fry |
T |
C |
5: 150,304,274 (GRCm39) |
Y555H |
probably damaging |
Het |
| Gm17175 |
A |
C |
14: 51,809,065 (GRCm39) |
S100R |
probably damaging |
Het |
| Gm527 |
T |
C |
12: 64,967,931 (GRCm39) |
Y118H |
probably damaging |
Het |
| H2-M10.4 |
G |
T |
17: 36,772,142 (GRCm39) |
T202N |
probably damaging |
Het |
| Ift70a1 |
C |
T |
2: 75,810,851 (GRCm39) |
A411T |
probably benign |
Het |
| Igf1 |
A |
T |
10: 87,700,683 (GRCm39) |
T36S |
probably damaging |
Het |
| Ints8 |
C |
T |
4: 11,231,702 (GRCm39) |
V428I |
probably benign |
Het |
| Itga6 |
G |
A |
2: 71,671,673 (GRCm39) |
|
probably null |
Het |
| Jmjd1c |
A |
G |
10: 67,061,277 (GRCm39) |
E1210G |
possibly damaging |
Het |
| Kdm2a |
A |
T |
19: 4,406,792 (GRCm39) |
V134E |
probably damaging |
Het |
| Limch1 |
C |
A |
5: 67,191,537 (GRCm39) |
N947K |
possibly damaging |
Het |
| Met |
T |
C |
6: 17,562,272 (GRCm39) |
|
probably benign |
Het |
| Neb |
A |
G |
2: 52,106,376 (GRCm39) |
|
probably benign |
Het |
| Ogg1 |
A |
G |
6: 113,310,375 (GRCm39) |
I274V |
possibly damaging |
Het |
| Ola1 |
A |
T |
2: 72,987,197 (GRCm39) |
I145K |
probably benign |
Het |
| Or2r11 |
G |
A |
6: 42,437,464 (GRCm39) |
T163I |
possibly damaging |
Het |
| Pacrg |
A |
G |
17: 10,795,462 (GRCm39) |
V166A |
possibly damaging |
Het |
| Pira2 |
T |
A |
7: 3,845,604 (GRCm39) |
E260V |
probably damaging |
Het |
| Prickle3 |
T |
C |
X: 7,531,526 (GRCm39) |
C277R |
probably damaging |
Het |
| Psen1 |
A |
G |
12: 83,761,638 (GRCm39) |
T147A |
probably damaging |
Het |
| Pxk |
C |
T |
14: 8,151,014 (GRCm38) |
|
probably benign |
Het |
| Scn11a |
G |
A |
9: 119,648,913 (GRCm39) |
P50L |
probably benign |
Het |
| Scn4a |
C |
A |
11: 106,236,418 (GRCm39) |
V281L |
probably benign |
Het |
| Shcbp1 |
A |
G |
8: 4,789,166 (GRCm39) |
I551T |
probably benign |
Het |
| Snx13 |
T |
A |
12: 35,150,539 (GRCm39) |
I281N |
probably benign |
Het |
| Spata31e4 |
T |
A |
13: 50,856,388 (GRCm39) |
S675R |
probably benign |
Het |
| Spopfm1 |
C |
A |
3: 94,173,762 (GRCm39) |
H257N |
probably benign |
Het |
| Tdo2 |
T |
C |
3: 81,874,336 (GRCm39) |
K209E |
probably benign |
Het |
| Trip6 |
C |
T |
5: 137,311,146 (GRCm39) |
R190Q |
probably benign |
Het |
| Ubqln1 |
T |
A |
13: 58,328,672 (GRCm39) |
E426D |
probably damaging |
Het |
| Zfp607b |
C |
A |
7: 27,393,020 (GRCm39) |
N49K |
possibly 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 |
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation