Incidental Mutation 'R0096:Efr3a'
| ID |
17945 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Efr3a
|
| Ensembl Gene |
ENSMUSG00000015002 |
| Gene Name |
EFR3 homolog A |
| Synonyms |
C920006C10Rik, D030063F01Rik, A130089M23Rik |
| MMRRC Submission |
038382-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.410)
|
| Stock # |
R0096 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
65658883-65745665 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 65727290 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 613
(N613S)
|
| 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: N586S
PolyPhen 2
Score 0.439 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000015146
Gene: ENSMUSG00000015002
AA Change: N586S
| 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: N586S
PolyPhen 2
Score 0.439 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000134385
Gene: ENSMUSG00000015002
AA Change: N586S
| 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: ENSMUST00000174002
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174615
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174749
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000211878
AA Change: N613S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227340
|
| Meta Mutation Damage Score |
0.1545 |
| Coding Region Coverage |
- 1x: 90.0%
- 3x: 87.5%
- 10x: 81.4%
- 20x: 72.0%
|
| Validation Efficiency |
89% (76/85) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933405L10Rik |
A |
T |
8: 106,435,563 (GRCm39) |
|
probably null |
Het |
| Adamts3 |
G |
A |
5: 89,849,576 (GRCm39) |
Q615* |
probably null |
Het |
| Adamtsl3 |
T |
A |
7: 82,114,907 (GRCm39) |
|
probably benign |
Het |
| Anks1b |
T |
C |
10: 89,909,924 (GRCm39) |
S48P |
possibly damaging |
Het |
| Aoc1l2 |
A |
C |
6: 48,908,122 (GRCm39) |
Q374P |
probably damaging |
Het |
| Arhgap42 |
G |
T |
9: 9,009,314 (GRCm39) |
N524K |
probably damaging |
Het |
| Arhgef28 |
T |
G |
13: 98,067,762 (GRCm39) |
T1388P |
probably damaging |
Het |
| Arid4b |
T |
C |
13: 14,303,779 (GRCm39) |
V68A |
probably benign |
Het |
| Bard1 |
A |
T |
1: 71,092,889 (GRCm39) |
|
probably benign |
Het |
| BC005537 |
T |
C |
13: 24,989,923 (GRCm39) |
F129L |
probably damaging |
Het |
| Capn3 |
A |
T |
2: 120,333,010 (GRCm39) |
H592L |
possibly damaging |
Het |
| Cilp |
A |
G |
9: 65,180,952 (GRCm39) |
T256A |
possibly damaging |
Het |
| Cpne8 |
T |
A |
15: 90,384,118 (GRCm39) |
I481L |
probably benign |
Het |
| Dglucy |
A |
T |
12: 100,804,910 (GRCm39) |
I134F |
possibly damaging |
Het |
| Dnai2 |
A |
C |
11: 114,645,158 (GRCm39) |
D531A |
probably benign |
Het |
| Dthd1 |
A |
T |
5: 63,000,383 (GRCm39) |
R568S |
possibly damaging |
Het |
| Ermp1 |
A |
G |
19: 29,608,788 (GRCm39) |
Y164H |
possibly damaging |
Het |
| Fbrs |
C |
T |
7: 127,088,659 (GRCm39) |
A145V |
probably damaging |
Het |
| Gm9873 |
A |
T |
2: 168,863,029 (GRCm39) |
|
noncoding transcript |
Het |
| Grik1 |
T |
C |
16: 87,831,114 (GRCm39) |
M219V |
possibly damaging |
Het |
| Gucy1a2 |
A |
T |
9: 3,758,928 (GRCm39) |
|
probably benign |
Het |
| Itih5 |
G |
A |
2: 10,256,189 (GRCm39) |
R885Q |
probably benign |
Het |
| Kat2a |
A |
T |
11: 100,597,297 (GRCm39) |
V625E |
probably damaging |
Het |
| Kdm4c |
A |
G |
4: 74,275,580 (GRCm39) |
E752G |
probably damaging |
Het |
| Ksr1 |
A |
G |
11: 78,929,073 (GRCm39) |
|
probably benign |
Het |
| Lama1 |
T |
A |
17: 68,112,408 (GRCm39) |
F2283I |
probably benign |
Het |
| Luc7l3 |
A |
G |
11: 94,192,320 (GRCm39) |
|
probably benign |
Het |
| Map1a |
A |
G |
2: 121,131,986 (GRCm39) |
E696G |
probably damaging |
Het |
| Mrps34 |
A |
G |
17: 25,114,643 (GRCm39) |
D110G |
probably damaging |
Het |
| Myh11 |
T |
A |
16: 14,022,231 (GRCm39) |
K1710M |
possibly damaging |
Het |
| Myo1d |
A |
G |
11: 80,375,158 (GRCm39) |
L972P |
probably damaging |
Het |
| Nol4 |
T |
G |
18: 23,054,915 (GRCm39) |
T58P |
possibly damaging |
Het |
| Nos1ap |
T |
C |
1: 170,156,816 (GRCm39) |
D214G |
probably damaging |
Het |
| Or4c119 |
A |
T |
2: 88,986,640 (GRCm39) |
M293K |
probably benign |
Het |
| Pde4dip |
A |
C |
3: 97,674,783 (GRCm39) |
D44E |
probably damaging |
Het |
| Pip4k2a |
G |
A |
2: 18,893,850 (GRCm39) |
|
probably benign |
Het |
| Prmt8 |
T |
A |
6: 127,709,590 (GRCm39) |
|
probably benign |
Het |
| Pygl |
A |
T |
12: 70,237,940 (GRCm39) |
|
probably benign |
Het |
| Ralgapa1 |
T |
C |
12: 55,786,290 (GRCm39) |
D643G |
probably damaging |
Het |
| Sdk2 |
A |
G |
11: 113,793,970 (GRCm39) |
|
probably benign |
Het |
| Skint5 |
A |
T |
4: 113,454,965 (GRCm39) |
|
probably benign |
Het |
| Slc27a6 |
T |
C |
18: 58,731,829 (GRCm39) |
|
probably benign |
Het |
| Spata46 |
C |
T |
1: 170,139,603 (GRCm39) |
Q201* |
probably null |
Het |
| Sptbn1 |
A |
T |
11: 30,064,739 (GRCm39) |
V1920E |
probably damaging |
Het |
| Sycp2 |
G |
T |
2: 178,045,528 (GRCm39) |
Q31K |
probably damaging |
Het |
| Taf6l |
A |
G |
19: 8,755,881 (GRCm39) |
F256L |
probably benign |
Het |
| Tektl1 |
T |
A |
10: 78,584,539 (GRCm39) |
I328L |
probably benign |
Het |
| Trf |
A |
G |
9: 103,099,358 (GRCm39) |
F300L |
probably damaging |
Het |
| Vmn2r105 |
A |
G |
17: 20,447,741 (GRCm39) |
F361S |
possibly damaging |
Het |
| Vmn2r79 |
A |
G |
7: 86,686,527 (GRCm39) |
Y636C |
probably damaging |
Het |
| Wdr59 |
T |
C |
8: 112,231,005 (GRCm39) |
N68D |
probably damaging |
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 |
|
|
IGL01366:Efr3a
|
APN |
15 |
65,722,999 (GRCm39) |
missense |
probably benign |
0.37 |
|
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 |
|
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 |
2013-03-25 |
Incidental Mutation