Incidental Mutation 'IGL01366:Efr3a'
ID |
75951 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Efr3a
|
Ensembl Gene |
ENSMUSG00000015002 |
Gene Name |
EFR3 homolog A |
Synonyms |
C920006C10Rik, D030063F01Rik, A130089M23Rik |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.410)
|
Stock # |
IGL01366
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
65658883-65745665 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 65722999 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Lysine
at position 459
(I459K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148418
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015146]
[ENSMUST00000173858]
[ENSMUST00000211878]
|
AlphaFold |
Q8BG67 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000015146
AA Change: I432K
PolyPhen 2
Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000015146 Gene: ENSMUSG00000015002 AA Change: I432K
Domain | Start | End | E-Value | Type |
SCOP:d1gw5a_
|
226 |
584 |
5e-4 |
SMART |
low complexity region
|
709 |
720 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000173858
AA Change: I432K
PolyPhen 2
Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000134385 Gene: ENSMUSG00000015002 AA Change: I432K
Domain | Start | End | E-Value | Type |
SCOP:d1gw5a_
|
226 |
584 |
8e-4 |
SMART |
low complexity region
|
709 |
720 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173936
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174615
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000211878
AA Change: I459K
PolyPhen 2
Score 0.365 (Sensitivity: 0.90; Specificity: 0.89)
|
Predicted Effect |
unknown
Transcript: ENSMUST00000227340
AA Change: I10K
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is part of a complex that plays a role in maintaining an active pool of phosphatidylinositol 4-kinase (PI4K) at the plasma membrane. This protein is thought to be a peripheral membrane protein that associates with the plasma membrane through palmitoylation. Studies indicate that this gene product plays a role in controlling G protein-coupled receptor (GPCR) activity by affecting receptor phosphorylation. Whole exome sequencing studies have implicated mutations in this gene with autism spectrum disorders. [provided by RefSeq, Apr 2016]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310002L09Rik |
A |
T |
4: 73,868,937 (GRCm39) |
|
probably benign |
Het |
Adamts2 |
T |
C |
11: 50,687,295 (GRCm39) |
Y1041H |
probably damaging |
Het |
Adck5 |
A |
C |
15: 76,479,816 (GRCm39) |
*568C |
probably null |
Het |
AK157302 |
T |
A |
13: 21,679,471 (GRCm39) |
|
probably benign |
Het |
Bmpr2 |
G |
T |
1: 59,852,836 (GRCm39) |
G56W |
probably damaging |
Het |
Capn11 |
A |
C |
17: 45,964,126 (GRCm39) |
I146S |
probably damaging |
Het |
Ccdc162 |
A |
T |
10: 41,456,302 (GRCm39) |
D1613E |
possibly damaging |
Het |
Ccdc167 |
T |
C |
17: 29,924,286 (GRCm39) |
E50G |
probably damaging |
Het |
Col5a2 |
G |
T |
1: 45,431,048 (GRCm39) |
P864Q |
possibly damaging |
Het |
Col7a1 |
C |
T |
9: 108,806,187 (GRCm39) |
|
probably benign |
Het |
Crebbp |
T |
A |
16: 3,944,370 (GRCm39) |
H556L |
probably damaging |
Het |
Dcpp1 |
T |
A |
17: 24,101,710 (GRCm39) |
I153N |
possibly damaging |
Het |
Dgke |
C |
T |
11: 88,946,212 (GRCm39) |
R196H |
probably benign |
Het |
Espl1 |
T |
A |
15: 102,228,271 (GRCm39) |
C1682S |
probably benign |
Het |
Exosc3 |
C |
T |
4: 45,317,747 (GRCm39) |
R185H |
probably damaging |
Het |
Fgd6 |
T |
C |
10: 93,879,338 (GRCm39) |
V64A |
possibly damaging |
Het |
Fhip2b |
G |
A |
14: 70,822,813 (GRCm39) |
R688C |
probably damaging |
Het |
Gata3 |
A |
G |
2: 9,882,276 (GRCm39) |
L42P |
probably damaging |
Het |
Ggta1 |
C |
A |
2: 35,292,462 (GRCm39) |
E282* |
probably null |
Het |
Ghr |
T |
C |
15: 3,349,669 (GRCm39) |
D503G |
probably damaging |
Het |
Gls |
C |
T |
1: 52,207,558 (GRCm39) |
G602D |
probably damaging |
Het |
Gm2058 |
A |
G |
7: 39,238,658 (GRCm39) |
|
noncoding transcript |
Het |
Grb7 |
T |
C |
11: 98,343,100 (GRCm39) |
|
probably benign |
Het |
Ifngr1 |
A |
T |
10: 19,485,348 (GRCm39) |
H449L |
probably damaging |
Het |
Ighg2b |
T |
G |
12: 113,270,656 (GRCm39) |
D158A |
possibly damaging |
Het |
Nphs2 |
T |
C |
1: 156,138,605 (GRCm39) |
V83A |
probably benign |
Het |
Parp6 |
T |
A |
9: 59,543,996 (GRCm39) |
M390K |
possibly damaging |
Het |
Pask |
T |
C |
1: 93,238,574 (GRCm39) |
K1304E |
probably benign |
Het |
Scai |
A |
G |
2: 38,996,973 (GRCm39) |
S274P |
probably benign |
Het |
Sik2 |
A |
G |
9: 50,818,763 (GRCm39) |
S404P |
probably damaging |
Het |
Slc7a8 |
A |
T |
14: 55,018,645 (GRCm39) |
I47N |
probably damaging |
Het |
Tas2r113 |
A |
T |
6: 132,870,760 (GRCm39) |
I263F |
probably benign |
Het |
Tdrd1 |
T |
A |
19: 56,843,734 (GRCm39) |
D737E |
probably benign |
Het |
Trio |
T |
C |
15: 27,732,954 (GRCm39) |
T2976A |
possibly damaging |
Het |
Ttc28 |
T |
C |
5: 111,233,037 (GRCm39) |
|
probably null |
Het |
Vmn1r21 |
A |
G |
6: 57,820,799 (GRCm39) |
I215T |
probably benign |
Het |
|
Other mutations in Efr3a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00642:Efr3a
|
APN |
15 |
65,727,266 (GRCm39) |
missense |
possibly damaging |
0.66 |
IGL01070:Efr3a
|
APN |
15 |
65,724,927 (GRCm39) |
missense |
probably benign |
|
IGL01754:Efr3a
|
APN |
15 |
65,726,569 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL02121:Efr3a
|
APN |
15 |
65,742,999 (GRCm39) |
splice site |
probably benign |
|
BB007:Efr3a
|
UTSW |
15 |
65,733,589 (GRCm39) |
missense |
probably benign |
|
BB017:Efr3a
|
UTSW |
15 |
65,733,589 (GRCm39) |
missense |
probably benign |
|
R0096:Efr3a
|
UTSW |
15 |
65,727,290 (GRCm39) |
missense |
probably damaging |
1.00 |
R0096:Efr3a
|
UTSW |
15 |
65,727,290 (GRCm39) |
missense |
probably damaging |
1.00 |
R0139:Efr3a
|
UTSW |
15 |
65,717,830 (GRCm39) |
missense |
possibly damaging |
0.58 |
R0449:Efr3a
|
UTSW |
15 |
65,714,553 (GRCm39) |
missense |
probably damaging |
1.00 |
R0786:Efr3a
|
UTSW |
15 |
65,725,400 (GRCm39) |
missense |
possibly damaging |
0.47 |
R0827:Efr3a
|
UTSW |
15 |
65,725,400 (GRCm39) |
missense |
possibly damaging |
0.70 |
R0843:Efr3a
|
UTSW |
15 |
65,709,272 (GRCm39) |
splice site |
probably benign |
|
R1433:Efr3a
|
UTSW |
15 |
65,740,906 (GRCm39) |
intron |
probably benign |
|
R1572:Efr3a
|
UTSW |
15 |
65,726,641 (GRCm39) |
critical splice donor site |
probably null |
|
R2290:Efr3a
|
UTSW |
15 |
65,721,688 (GRCm39) |
missense |
probably benign |
0.00 |
R2764:Efr3a
|
UTSW |
15 |
65,721,619 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4170:Efr3a
|
UTSW |
15 |
65,717,831 (GRCm39) |
missense |
probably damaging |
0.98 |
R4368:Efr3a
|
UTSW |
15 |
65,738,629 (GRCm39) |
missense |
possibly damaging |
0.82 |
R4683:Efr3a
|
UTSW |
15 |
65,691,650 (GRCm39) |
missense |
probably damaging |
1.00 |
R4797:Efr3a
|
UTSW |
15 |
65,729,437 (GRCm39) |
missense |
probably damaging |
1.00 |
R5495:Efr3a
|
UTSW |
15 |
65,687,258 (GRCm39) |
missense |
possibly damaging |
0.73 |
R6262:Efr3a
|
UTSW |
15 |
65,729,323 (GRCm39) |
missense |
possibly damaging |
0.90 |
R6552:Efr3a
|
UTSW |
15 |
65,729,339 (GRCm39) |
missense |
possibly damaging |
0.52 |
R6825:Efr3a
|
UTSW |
15 |
65,701,679 (GRCm39) |
missense |
probably benign |
0.18 |
R6833:Efr3a
|
UTSW |
15 |
65,714,535 (GRCm39) |
missense |
probably damaging |
1.00 |
R6852:Efr3a
|
UTSW |
15 |
65,701,679 (GRCm39) |
missense |
probably benign |
0.18 |
R6853:Efr3a
|
UTSW |
15 |
65,701,679 (GRCm39) |
missense |
probably benign |
0.18 |
R6996:Efr3a
|
UTSW |
15 |
65,720,030 (GRCm39) |
nonsense |
probably null |
|
R7327:Efr3a
|
UTSW |
15 |
65,691,627 (GRCm39) |
missense |
probably damaging |
0.98 |
R7467:Efr3a
|
UTSW |
15 |
65,729,360 (GRCm39) |
missense |
possibly damaging |
0.65 |
R7549:Efr3a
|
UTSW |
15 |
65,687,262 (GRCm39) |
critical splice donor site |
probably null |
|
R7671:Efr3a
|
UTSW |
15 |
65,709,283 (GRCm39) |
critical splice acceptor site |
probably null |
|
R7810:Efr3a
|
UTSW |
15 |
65,659,022 (GRCm39) |
start gained |
probably benign |
|
R7830:Efr3a
|
UTSW |
15 |
65,701,679 (GRCm39) |
missense |
probably benign |
0.18 |
R7832:Efr3a
|
UTSW |
15 |
65,701,679 (GRCm39) |
missense |
probably benign |
0.18 |
R7900:Efr3a
|
UTSW |
15 |
65,719,984 (GRCm39) |
splice site |
probably null |
|
R7904:Efr3a
|
UTSW |
15 |
65,696,527 (GRCm39) |
missense |
probably damaging |
1.00 |
R7930:Efr3a
|
UTSW |
15 |
65,733,589 (GRCm39) |
missense |
probably benign |
|
R8115:Efr3a
|
UTSW |
15 |
65,738,644 (GRCm39) |
missense |
probably damaging |
1.00 |
R8244:Efr3a
|
UTSW |
15 |
65,687,217 (GRCm39) |
missense |
probably damaging |
1.00 |
R8388:Efr3a
|
UTSW |
15 |
65,738,671 (GRCm39) |
missense |
probably benign |
0.42 |
R8859:Efr3a
|
UTSW |
15 |
65,726,614 (GRCm39) |
missense |
probably damaging |
1.00 |
R9732:Efr3a
|
UTSW |
15 |
65,720,139 (GRCm39) |
missense |
probably benign |
0.39 |
|
Posted On |
2013-10-07 |