Incidental Mutation 'R3849:Efr3b'
| ID |
275828 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Efr3b
|
| Ensembl Gene |
ENSMUSG00000020658 |
| Gene Name |
EFR3 homolog B |
| Synonyms |
C030014M07Rik |
| MMRRC Submission |
040897-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3849 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
4012554-4088915 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 4033414 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 131
(N131S)
|
| 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: N247S
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000106809
Gene: ENSMUSG00000020658
AA Change: N247S
| 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: N131S
PolyPhen 2
Score 0.402 (Sensitivity: 0.89; Specificity: 0.89)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219797
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220181
|
| Meta Mutation Damage Score |
0.1062 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.7%
- 20x: 96.1%
|
| Validation Efficiency |
100% (52/52) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9430038I01Rik |
A |
T |
7: 136,978,069 (GRCm39) |
N102K |
possibly damaging |
Het |
| Abca1 |
C |
T |
4: 53,061,481 (GRCm39) |
|
probably benign |
Het |
| Adamts17 |
T |
A |
7: 66,490,215 (GRCm39) |
L99Q |
possibly damaging |
Het |
| Adamtsl1 |
A |
T |
4: 86,336,783 (GRCm39) |
Q1564L |
probably damaging |
Het |
| Aspm |
T |
A |
1: 139,386,024 (GRCm39) |
V556E |
probably benign |
Het |
| Axin1 |
T |
A |
17: 26,406,771 (GRCm39) |
Y455N |
probably benign |
Het |
| Cacna2d3 |
A |
G |
14: 29,069,077 (GRCm39) |
|
probably null |
Het |
| Car8 |
T |
A |
4: 8,189,353 (GRCm39) |
I154F |
probably benign |
Het |
| Ccl27a |
T |
A |
4: 41,773,232 (GRCm39) |
T76S |
probably benign |
Het |
| Cep170 |
G |
A |
1: 176,583,409 (GRCm39) |
A990V |
probably benign |
Het |
| Chd1 |
A |
T |
17: 15,952,133 (GRCm39) |
T291S |
probably damaging |
Het |
| Col3a1 |
C |
A |
1: 45,361,150 (GRCm39) |
P112T |
unknown |
Het |
| Cpa4 |
T |
C |
6: 30,590,872 (GRCm39) |
F390S |
probably damaging |
Het |
| Cul5 |
T |
G |
9: 53,529,286 (GRCm39) |
M800L |
probably benign |
Het |
| Dst |
C |
T |
1: 34,251,400 (GRCm39) |
S4165F |
probably damaging |
Het |
| Dusp8 |
T |
C |
7: 141,643,802 (GRCm39) |
E37G |
probably damaging |
Het |
| Fan1 |
T |
C |
7: 64,022,119 (GRCm39) |
Y378C |
probably damaging |
Het |
| Fcgr2b |
T |
C |
1: 170,795,704 (GRCm39) |
N75S |
possibly damaging |
Het |
| Foxp4 |
A |
G |
17: 48,186,453 (GRCm39) |
I442T |
unknown |
Het |
| Gp9 |
A |
G |
6: 87,756,133 (GRCm39) |
I49M |
probably benign |
Het |
| Grip1 |
G |
A |
10: 119,765,863 (GRCm39) |
G65D |
probably damaging |
Het |
| Hoxc10 |
T |
C |
15: 102,875,879 (GRCm39) |
V196A |
probably benign |
Het |
| Hpx |
A |
G |
7: 105,245,498 (GRCm39) |
C92R |
probably damaging |
Het |
| Ighv1-22 |
A |
G |
12: 114,710,301 (GRCm39) |
F9S |
possibly damaging |
Het |
| Kif24 |
C |
T |
4: 41,404,734 (GRCm39) |
R422H |
probably damaging |
Het |
| Klk1b1 |
T |
C |
7: 43,618,751 (GRCm39) |
Y43H |
probably damaging |
Het |
| Lmo7 |
A |
G |
14: 102,159,531 (GRCm39) |
|
probably null |
Het |
| Lrguk |
A |
G |
6: 34,050,703 (GRCm39) |
D387G |
probably damaging |
Het |
| Lysmd1 |
G |
A |
3: 95,045,772 (GRCm39) |
G203D |
probably damaging |
Het |
| Mpnd |
T |
C |
17: 56,318,692 (GRCm39) |
S150P |
probably damaging |
Het |
| Mrc2 |
T |
C |
11: 105,183,729 (GRCm39) |
|
probably null |
Het |
| Mtr |
A |
G |
13: 12,262,251 (GRCm39) |
S152P |
probably benign |
Het |
| Naip2 |
A |
T |
13: 100,315,940 (GRCm39) |
L280Q |
probably damaging |
Het |
| Naip2 |
G |
C |
13: 100,315,941 (GRCm39) |
L280V |
probably damaging |
Het |
| Ndufa13 |
T |
C |
8: 70,354,260 (GRCm39) |
D9G |
probably damaging |
Het |
| Nek1 |
T |
A |
8: 61,525,349 (GRCm39) |
F596I |
probably damaging |
Het |
| Nsd1 |
A |
G |
13: 55,394,504 (GRCm39) |
T702A |
probably benign |
Het |
| Or7d10 |
A |
T |
9: 19,832,105 (GRCm39) |
Y200F |
probably damaging |
Het |
| Pam |
T |
A |
1: 97,782,481 (GRCm39) |
|
probably benign |
Het |
| Plxna1 |
C |
A |
6: 89,333,501 (GRCm39) |
R376L |
probably damaging |
Het |
| Plxnc1 |
A |
G |
10: 94,630,294 (GRCm39) |
V1535A |
probably benign |
Het |
| Prdx5 |
A |
G |
19: 6,884,218 (GRCm39) |
L166P |
probably damaging |
Het |
| Prol1 |
A |
T |
5: 88,476,476 (GRCm39) |
I289F |
unknown |
Het |
| Prss23 |
T |
C |
7: 89,158,959 (GRCm39) |
Y370C |
probably damaging |
Het |
| Rimbp3 |
A |
T |
16: 17,028,163 (GRCm39) |
H529L |
probably benign |
Het |
| Rnase2b |
T |
A |
14: 51,400,205 (GRCm39) |
H95Q |
probably damaging |
Het |
| Rnf103 |
C |
G |
6: 71,485,859 (GRCm39) |
C163W |
probably damaging |
Het |
| Rnf17 |
T |
C |
14: 56,749,753 (GRCm39) |
V1433A |
probably damaging |
Het |
| Rusf1 |
C |
T |
7: 127,884,380 (GRCm39) |
V201I |
probably damaging |
Het |
| Syne2 |
C |
T |
12: 76,092,839 (GRCm39) |
Q5150* |
probably null |
Het |
| Tas2r110 |
T |
A |
6: 132,845,638 (GRCm39) |
I223N |
probably damaging |
Het |
| Tead2 |
T |
A |
7: 44,881,752 (GRCm39) |
|
probably null |
Het |
| Vwa3a |
A |
T |
7: 120,361,687 (GRCm39) |
K133* |
probably null |
Het |
| Vwce |
T |
C |
19: 10,624,269 (GRCm39) |
S387P |
probably damaging |
Het |
| Zbtb41 |
T |
A |
1: 139,351,734 (GRCm39) |
H282Q |
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CGTGGTAGTCTAGCTGTATGAAC -3'
(R):5'- TCTGAGCAGAAACCTAGGGC -3'
Sequencing Primer
(F):5'- ATTGACTTGGCCGTAGCAAGTC -3'
(R):5'- TCTGAGCAGAAACCTAGGGCTATAC -3'
|
| Posted On |
2015-04-06 |
Incidental Mutation