Incidental Mutation 'R6759:Efr3b'
ID |
531154 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Efr3b
|
Ensembl Gene |
ENSMUSG00000020658 |
Gene Name |
EFR3 homolog B |
Synonyms |
C030014M07Rik |
MMRRC Submission |
044875-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6759 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
4012554-4088915 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 4034613 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Tyrosine
at position 186
(N186Y)
|
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: N186Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000106809 Gene: ENSMUSG00000020658 AA Change: N186Y
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 damaging
Transcript: ENSMUST00000218166
AA Change: N70Y
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219797
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220181
|
Meta Mutation Damage Score |
0.3061 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.9%
|
Validation Efficiency |
98% (49/50) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2900026A02Rik |
T |
C |
5: 113,331,692 (GRCm39) |
S841G |
probably benign |
Het |
4933427I04Rik |
G |
T |
4: 123,753,879 (GRCm39) |
|
probably benign |
Het |
Aak1 |
A |
G |
6: 86,921,399 (GRCm39) |
T199A |
probably damaging |
Het |
Acnat2 |
C |
A |
4: 49,380,254 (GRCm39) |
V375L |
probably benign |
Het |
Aldh1a7 |
T |
C |
19: 20,677,320 (GRCm39) |
T434A |
possibly damaging |
Het |
Aldh3a2 |
T |
C |
11: 61,156,088 (GRCm39) |
T63A |
probably benign |
Het |
Anxa2 |
T |
C |
9: 69,391,103 (GRCm39) |
S97P |
probably damaging |
Het |
Apip |
T |
C |
2: 102,922,191 (GRCm39) |
S186P |
probably benign |
Het |
Apob |
A |
G |
12: 8,061,049 (GRCm39) |
K3177R |
probably benign |
Het |
Atm |
C |
T |
9: 53,429,859 (GRCm39) |
W392* |
probably null |
Het |
Atp8b1 |
T |
A |
18: 64,679,161 (GRCm39) |
R773S |
probably benign |
Het |
Bicdl2 |
T |
A |
17: 23,885,718 (GRCm39) |
|
probably null |
Het |
Bltp1 |
C |
T |
3: 37,042,234 (GRCm39) |
T2740I |
possibly damaging |
Het |
Cacng3 |
G |
A |
7: 122,361,547 (GRCm39) |
|
probably null |
Het |
Clca3a1 |
G |
T |
3: 144,455,450 (GRCm39) |
L448M |
probably damaging |
Het |
Clk4 |
A |
G |
11: 51,166,401 (GRCm39) |
I94M |
possibly damaging |
Het |
Cnot3 |
G |
T |
7: 3,654,918 (GRCm39) |
V124F |
probably damaging |
Het |
Cyp4a30b |
C |
T |
4: 115,318,571 (GRCm39) |
A426V |
probably benign |
Het |
Dact1 |
T |
A |
12: 71,364,911 (GRCm39) |
L564* |
probably null |
Het |
Dnah8 |
T |
A |
17: 30,882,266 (GRCm39) |
|
probably null |
Het |
Dock5 |
T |
A |
14: 68,033,445 (GRCm39) |
T975S |
probably benign |
Het |
Dock8 |
C |
A |
19: 25,104,848 (GRCm39) |
H739Q |
probably damaging |
Het |
Enam |
G |
A |
5: 88,649,550 (GRCm39) |
G278D |
probably damaging |
Het |
Fgl2 |
A |
G |
5: 21,578,256 (GRCm39) |
D181G |
probably benign |
Het |
Gfra3 |
G |
T |
18: 34,828,926 (GRCm39) |
S156* |
probably null |
Het |
Jam3 |
G |
C |
9: 27,013,276 (GRCm39) |
T98S |
probably benign |
Het |
Ltbp2 |
A |
T |
12: 84,834,184 (GRCm39) |
I1435N |
probably damaging |
Het |
Man2a1 |
G |
A |
17: 64,932,383 (GRCm39) |
A157T |
probably benign |
Het |
Mcm3ap |
T |
A |
10: 76,337,148 (GRCm39) |
V1361E |
probably benign |
Het |
Nobox |
A |
T |
6: 43,284,538 (GRCm39) |
L36Q |
possibly damaging |
Het |
Or2ag12 |
T |
A |
7: 106,277,100 (GRCm39) |
M198L |
probably benign |
Het |
Or51a10 |
A |
G |
7: 103,699,334 (GRCm39) |
S76P |
probably damaging |
Het |
Parp4 |
G |
A |
14: 56,857,947 (GRCm39) |
V860I |
probably benign |
Het |
Pim3 |
T |
A |
15: 88,747,296 (GRCm39) |
|
probably null |
Het |
Ptpn13 |
A |
T |
5: 103,713,121 (GRCm39) |
N1748I |
possibly damaging |
Het |
Rad51ap2 |
A |
G |
12: 11,507,145 (GRCm39) |
T356A |
possibly damaging |
Het |
Ranbp2 |
C |
T |
10: 58,293,559 (GRCm39) |
R310* |
probably null |
Het |
Rassf5 |
C |
T |
1: 131,109,988 (GRCm39) |
V190I |
probably benign |
Het |
Rgl1 |
T |
G |
1: 152,409,281 (GRCm39) |
Q481P |
probably damaging |
Het |
Rrp1b |
A |
G |
17: 32,276,063 (GRCm39) |
T537A |
probably benign |
Het |
Smok3c |
T |
A |
5: 138,063,699 (GRCm39) |
S395R |
probably benign |
Het |
St3gal1 |
A |
G |
15: 66,983,195 (GRCm39) |
V187A |
possibly damaging |
Het |
Strn4 |
A |
T |
7: 16,556,978 (GRCm39) |
E145V |
probably damaging |
Het |
Tex21 |
T |
A |
12: 76,251,086 (GRCm39) |
|
probably null |
Het |
Usp37 |
G |
A |
1: 74,534,908 (GRCm39) |
R13* |
probably null |
Het |
Uty |
G |
T |
Y: 1,174,735 (GRCm39) |
L222I |
probably damaging |
Homo |
Wwp2 |
A |
G |
8: 108,267,314 (GRCm39) |
T309A |
probably damaging |
Het |
Zfp40 |
C |
T |
17: 23,395,510 (GRCm39) |
R359H |
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 |
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 |
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'- ATTCCTGGCCTTGTAGCTGC -3'
(R):5'- ATGGATCTCATAGCTCGCCTC -3'
Sequencing Primer
(F):5'- GGCCTTGTAGCTGCCTTTAC -3'
(R):5'- GCCCACTAGGTACACAAGGG -3'
|
Posted On |
2018-08-01 |